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Sample records for renal syndrome hfrs

  1. Hemorrhagic Fever with Renal Syndrome (HFRS)

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    ... this page: About CDC.gov . Share Compartir Hemorrhagic Fever with Renal Syndrome (HFRS) On this Page What ... is HFRS prevented? Suggested Reading What is hemorrhagic fever with renal syndrome? Hemorrhagic fever with renal syndrome ( ...

  2. STUDY ON AEROSOL TRANSMISSION ROUTES OF HEMORRHAGIC FEVER WITH RENAL SYNDROME (HFRS)

    Institute of Scientific and Technical Information of China (English)

    Fengxiang Che; Lingying Meng; Jianchun Lu; Jinsong Li; Junbao Li; Minxia Liu

    2003-01-01

    The present paper reviews our studies on transmission routes and prophylactic measures of Hemorrhagic Fever with Renal Syndrome (HFRS), including aerosol inhalation, skin injury/mucosa, insect vectors, peroral infection and vertical transmission. The results show that HFRS is transmitted by Hantaan virus via multi-routes. One of them, the aerosol transmission, is perhaps the main route transmitting HFRS from mouse to human beings. The injury and mucosa is the main transmission route from mouse to mouse and also an important agent from mouse to human beings.The peroral infection may occur in very serious pollution of foods. The insect vectors may play an important role in the focus of HFRS and in the transmission of HFRS from mouse to human. The epidemiological significance of vertical transmission is yet uncertain. According to the results, four proposals should be emphasized including killing insects and mice, long lasting and combined prophylactics, intensive studies on prophylactic measures on viral aerosols and the blocking of transmission of HFRS from mouse to human via aerosols.

  3. Korean Hemorrhagic Fever (Hemorrhagic Fever with Renal Syndrome (HFRS)).

    Science.gov (United States)

    1983-08-01

    occurring mainly in Korea, China, Mongolia and Russia, and other diseases similar HFRS occurring in Europe had been called by other names. In 1976...76-21-3 4,096 1,024 S a p r MS - 1 , 2 4 , 0 96. . . . Sapporo MS-H 1,024 1,024 Siaroa-H 4,096 4,096 Niigata-JH3 1,024 4,096 Kyoto MS-K2 1,024 4,096

  4. Spatio-Temporal Pattern and Influencing Factors of Hemorrhagic Fever with Renal Syndrome (HFRS) in Hubei Province (China) between 2005 and 2014

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    Ge, Liang; Zhao, Youlin; Zhou, Kui; Mu, Xiangming; Yu, Haibo; Wang, Yongfeng; Wang, Ning; Fan, Hong; Guo, Liqiang; Huo, XiXiang

    2016-01-01

    Hemorrhagic Fever with Renal Syndrome (HFRS) is considered as a globally distributed infectious disease, which results in many deaths annually in Hubei Province, China. The outbreak of HFRS is usually characterized with spatio-temporal heterogeneity and is seasonally distributed. Further, it might also be impacted by the influencing factors such as socio-economic and geographical environment. To better understand and predict the outbreak of HFRS in the Hubei Province, the spatio-temporal pattern and influencing factors were investigated in this study. Moran’s I Index value was adopted in spatial global autocorrelation analysis to identify the overall spatio-temporal pattern of HFRS outbreak. Kulldorff scan statistical analysis was performed to further identify the changing trends of the clustering patterns of HFRS outbreak. Spearman's rank correlation analysis was used to explore the possible influencing factors on HFRS epidemics such as climate and geographic. The results demonstrated that HFRS outbreak in Hubei Province decreased from 2005 to 2012 in general while increasing slightly from 2012 to 2014. The spatial and temporal scan statistical analysis indicated that HFRS epidemic was temporally clustered in summer and autumn from 2005 to 2014 except 2008 and 2011. The seasonal epidemic pattern of HFRS in Hubei Province was characterized by a bimodal pattern (March to May and September to November) while peaks often occurring in the spring time. SEOV-type HFRS was presumed to influence more on the total number of HFRS incidence than HTNV-type HFRS do. The average humidity and human population density were the main influencing factors during these years. HFRS outbreaks were more in plains than in other areas of Hubei Province. We did not find that whether the terrain of the wetland (water system) plays a significant role in the outbreak of HFRS incidence. With a better understanding of rodent infection rate, socio-economic status and ecological environment

  5. A novel Sin Nombre virus DNA vaccine and its inclusion in a candidate pan-hantavirus vaccine against hantavirus pulmonary syndrome (HPS) and hemorrhagic fever with renal syndrome (HFRS).

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    Hooper, Jay W; Josleyn, Matthew; Ballantyne, John; Brocato, Rebecca

    2013-09-13

    Sin Nombre virus (SNV; family Bunyaviridae, genus Hantavirus) causes a hemorrhagic fever known as hantavirus pulmonary syndrome (HPS) in North America. There have been approximately 200 fatal cases of HPS in the United States since 1993, predominantly in healthy working-age males (case fatality rate 35%). There are no FDA-approved vaccines or drugs to prevent or treat HPS. Previously, we reported that hantavirus vaccines based on the full-length M gene segment of Andes virus (ANDV) for HPS in South America, and Hantaan virus (HTNV) and Puumala virus (PUUV) for hemorrhagic fever with renal syndrome (HFRS) in Eurasia, all elicited high-titer neutralizing antibodies in animal models. HFRS is more prevalent than HPS (>20,000 cases per year) but less pathogenic (case fatality rate 1-15%). Here, we report the construction and testing of a SNV full-length M gene-based DNA vaccine to prevent HPS. Rabbits vaccinated with the SNV DNA vaccine by muscle electroporation (mEP) developed high titers of neutralizing antibodies. Furthermore, hamsters vaccinated three times with the SNV DNA vaccine using a gene gun were completely protected against SNV infection. This is the first vaccine of any kind that specifically elicits high-titer neutralizing antibodies against SNV. To test the possibility of producing a pan-hantavirus vaccine, rabbits were vaccinated by mEP with an HPS mix (ANDV and SNV plasmids), or HFRS mix (HTNV and PUUV plasmids), or HPS/HFRS mix (all four plasmids). The HPS mix and HFRS mix elicited neutralizing antibodies predominantly against ANDV/SNV and HTNV/PUUV, respectively. Furthermore, the HPS/HFRS mix elicited neutralizing antibodies against all four viruses. These findings demonstrate a pan-hantavirus vaccine using a mixed-plasmid DNA vaccine approach is feasible and warrants further development. Copyright © 2013 The Authors. Published by Elsevier Ltd.. All rights reserved.

  6. A novel Sin Nombre virus DNA vaccine and its inclusion in a candidate pan-hantavirus vaccine against hantavirus pulmonary syndrome (HPS) and hemorrhagic fever with renal syndrome (HFRS)☆

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    Hooper, Jay W.; Josleyn, Matthew; Ballantyne, John; Brocato, Rebecca

    2014-01-01

    Sin Nombre virus (SNV; family Bunyaviridae, genus Hantavirus) causes a hemorrhagic fever known as hantavirus pulmonary syndrome (HPS) in North America. There have been approximately 200 fatal cases of HPS in the United States since 1993, predominantly in healthy working-age males (case fatality rate 35%). There are no FDA-approved vaccines or drugs to prevent or treat HPS. Previously, we reported that hantavirus vaccines based on the full-length M gene segment of Andes virus (ANDV) for HPS in South America, and Hantaan virus (HTNV) and Puumala virus (PUUV) for hemorrhagic fever with renal syndrome (HFRS) in Eurasia, all elicited high-titer neutralizing antibodies in animal models. HFRS is more prevalent than HPS (>20,000 cases per year) but less pathogenic (case fatality rate 1–15%). Here, we report the construction and testing of a SNV full-length M gene-based DNA vaccine to prevent HPS. Rabbits vaccinated with the SNV DNA vaccine by muscle electroporation (mEP) developed high titers of neutralizing antibodies. Furthermore, hamsters vaccinated three times with the SNV DNA vaccine using a gene gun were completely protected against SNV infection. This is the first vaccine of any kind that specifically elicits high-titer neutralizing antibodies against SNV. To test the possibility of producing a pan-hantavirus vaccine, rabbits were vaccinated by mEP with an HPS mix (ANDV and SNV plasmids), or HFRS mix (HTNV and PUUV plasmids), or HPS/HFRS mix (all four plasmids). The HPS mix and HFRS mix elicited neutralizing antibodies predominantly against ANDV/SNV and HTNV/PUUV, respectively. Furthermore, the HPS/HFRS mix elicited neutralizing antibodies against all four viruses. These findings demonstrate a pan-hantavirus vaccine using a mixed-plasmid DNA vaccine approach is feasible and warrants further development. PMID:23892100

  7. HFRS with Severe Heart Liver and Renal Failure:a Case Report

    Institute of Scientific and Technical Information of China (English)

    Qing; Zhou; Meng-Hou; Lu; Lei; Fu; De-Ming; Tan

    2012-01-01

    Hemorrhagic fever with renal syndrome(HFRS) is caused by hantavirus infection,which was characterized by abrupt high fever,systemic hemorrhage,hypotension and renal damage.Although multiple system organ damage was not uncommon,but multiple organ system failure were rare.Hereafter we report one case with simultaneous renal,heart and liver failure.In this case,we received some experience and lessons.

  8. Hemorrhagic fever with renal syndrome and coexisting hantavirus pulmonary syndrome

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    Young Min Hong

    2012-06-01

    Full Text Available Hemorrhagic fever with renal syndrome (HFRS is an acute viral disease with fever, hemorrhage and renal failure caused by hantavirus infection. Hantavirus induces HFRS or hantavirus pulmonary syndrome (HPS. HPS progression to a life-threatening pulmonary disease is found primarily in the USA and very rarely in South Korea. Here, we report a case of HFRS and coexisting HPS.

  9. Climate Variability and Hemorrhagic Fever with Renal Syndrome Transmission in Northeastern China

    OpenAIRE

    Zhang, Wen-yi; Guo, Wei-Dong; Fang, Li-Qun; Li, Chang-Ping; Bi, Peng; Gregory E Glass; Jiang, Jia-Fu; Sun, Shan-Hua; Qian, Quan; Liu, Wei; Yan, Lei; Yang, Hong; Tong, Shi-Lu; Cao, Wu-Chun

    2010-01-01

    Background The transmission of hemorrhagic fever with renal syndrome (HFRS) is influenced by climatic variables. However, few studies have examined the quantitative relationship between climate variation and HFRS transmission. Objective We examined the potential impact of climate variability on HFRS transmission and developed climate-based forecasting models for HFRS in northeastern China. Methods We obtained data on monthly counts of reported HFRS cases in Elunchun and Molidawahaner counties...

  10. Hemorrhagic Fever with Renal Syndrome Complicated by Orchitis

    Institute of Scientific and Technical Information of China (English)

    Edmond Puca; Arben Pilaca; Pellumb Pipero; Silva Bino; Majlinda Kote; Elton Rogozi; Entela Puca; Dhimiter Kraja

    2011-01-01

    Hemorrhagic fever with renal syndrome (HFRS) is a disease caused by viruses of the family Bunyaviridae,genus Hantavirus.HFRS from Dobrava virus (DOBV) is a seldom reported disease in Albania.Clinically HFRS is manifested as mild,moderate,or severe.Therefore,the number of cases of Hantavirus'infection may be underestimated,and should be included in the differential diagnosis of many acute infections,hematologic diseases,acute abdominal diseases and renal diseases complicated by acute renal failure.We report here an atypical presentation of HFRS from Dobrava virus complicated by orchitis with a positive outcome.

  11. Renal Artery Embolization of Perirenal Hematoma in Hemorrhagic Fever with Renal Syndrome: A Case Report

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    Choi, Hee Seok; Lee, Yong Seok; Lim, Ji Hyon; Kim, Kyung Soo; Yoon, Yup [Dongguk University College of Medicine, Goyang (Korea, Republic of); Hwang, Jae Cheol [Ulsan University Hospital, University of Ulsan College of Medicine, Ulsan (Korea, Republic of)

    2007-08-15

    Hemorrhagic fever with renal syndrome (HFRS) is an acute viral disease characterized by fever, hemorrhage and renal failure. Among the various hemorrhagic complications of HFRS, spontaneous rupture of the kidney and perirenal hematoma are very rare findings. We report here on a case of HFRS complicated by massive perirenal hematoma, and this was treated with transcatheter arterial embolization. Hemorrhagic fever with renal syndrome (HFRS) is an acute infectious disease caused by hantavirus. HFRS is clinically characterized by fever, renal failure and hemorrhage in organs such as lung, kidney, spleen and the pituitary gland. Renal medullary hemorrhage is a well-known complication in the kidney, but spontaneous rupture of the kidney and perirenal hematoma in HFRS is rare, and patients showing continuous bleeding and massive perirenal hematoma have often been surgically treated. We report here on a case of HFRS complicated by massive perirenal hematoma, and the patient was treated with transcatheter arterial embolization. In summary, spontaneous rupture of the kidney and perirenal hematoma is a rare complication of HFRS. We report here on a case of HFRS that caused massive perirenal hematoma, and this was treated with superselective renal artery embolization.

  12. Hemorrhagic Fever with Renal Syndrome: Pathogenesis and Clinical Picture

    OpenAIRE

    2016-01-01

    Hantaan virus (HTNV) causes hemorrhagic fever with renal syndrome (HFRS), which is a zoonosis endemic in eastern Asia, especially in China. The reservoir host of HTNV is field mouse (Apodemus agraricus). The main manifestation of HFRS, including acute kidney injury, increases vascular permeability, and coagulation abnormalities. In this paper, we review the current knowledge of the pathogenesis of HFRS including virus factor, immunity factor and host genetic factors. Furthermore, the treatmen...

  13. Hemorrhagic fever with renal syndrome complicated with pregnancy: a case report.

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    Kim, Baek-Nam; Choi, Byung-Don

    2006-06-01

    Hantaviruses cause two forms of human disease: hemorrhagic fever with renal syndrome (HFRS) and hantavirus pulmonary syndrome. Hantavirus infection can occur in pregnant women and it can have an influence on the maternal and fetal outcomes, although this is a rare finding even in endemic areas. We describe here a recent case of HFRS complicating pregnancy.

  14. Hemorrhagic Fever with Renal Syndrome Complicated with Pregnancy: A Case Report

    OpenAIRE

    2006-01-01

    Hantaviruses cause two forms of human disease: hemorrhagic fever with renal syndrome (HFRS) and hantavirus pulmonary syndrome. Hantavirus infection can occur in pregnant women and it can have an influence on the maternal and fetal outcomes, although this is a rare finding even in endemic areas. We describe here a recent case of HFRS complicating pregnancy.

  15. Climate variability and hemorrhagic fever with renal syndrome transmission in Northeastern China.

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    Zhang, Wen-Yi; Guo, Wei-Dong; Fang, Li-Qun; Li, Chang-Ping; Bi, Peng; Glass, Gregory E; Jiang, Jia-Fu; Sun, Shan-Hua; Qian, Quan; Liu, Wei; Yan, Lei; Yang, Hong; Tong, Shi-Lu; Cao, Wu-Chun

    2010-07-01

    The transmission of hemorrhagic fever with renal syndrome (HFRS) is influenced by climatic variables. However, few studies have examined the quantitative relationship between climate variation and HFRS transmission. We examined the potential impact of climate variability on HFRS transmission and developed climate-based forecasting models for HFRS in northeastern China. We obtained data on monthly counts of reported HFRS cases in Elunchun and Molidawahaner counties for 1997-2007 from the Inner Mongolia Center for Disease Control and Prevention and climate data from the Chinese Bureau of Meteorology. Cross-correlations assessed crude associations between climate variables, including rainfall, land surface temperature (LST), relative humidity (RH), and the multivariate El Niño Southern Oscillation (ENSO) index (MEI) and monthly HFRS cases over a range of lags. We used time-series Poisson regression models to examine the independent contribution of climatic variables to HFRS transmission. Cross-correlation analyses showed that rainfall, LST, RH, and MEI were significantly associated with monthly HFRS cases with lags of 3-5 months in both study areas. The results of Poisson regression indicated that after controlling for the autocorrelation, seasonality, and long-term trend, rainfall, LST, RH, and MEI with lags of 3-5 months were associated with HFRS in both study areas. The final model had good accuracy in forecasting the occurrence of HFRS. Climate variability plays a significant role in HFRS transmission in northeastern China. The model developed in this study has implications for HFRS control and prevention.

  16. Spatial analysis of hemorrhagic fever with renal syndrome in China

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    Yang Hong

    2006-04-01

    Full Text Available Abstract Background Hemorrhagic fever with renal syndrome (HFRS is endemic in many provinces with high incidence in mainland China, although integrated intervention measures including rodent control, environment management and vaccination have been implemented for over ten years. In this study, we conducted a geographic information system (GIS-based spatial analysis on distribution of HFRS cases for the whole country with an objective to inform priority areas for public health planning and resource allocation. Methods Annualized average incidence at a county level was calculated using HFRS cases reported during 1994–1998 in mainland China. GIS-based spatial analyses were conducted to detect spatial autocorrelation and clusters of HFRS incidence at the county level throughout the country. Results Spatial distribution of HFRS cases in mainland China from 1994 to 1998 was mapped at county level in the aspects of crude incidence, excess hazard and spatial smoothed incidence. The spatial distribution of HFRS cases was nonrandom and clustered with a Moran's I = 0.5044 (p = 0.001. Spatial cluster analyses suggested that 26 and 39 areas were at increased risks of HFRS (p Conclusion The application of GIS, together with spatial statistical techniques, provide a means to quantify explicit HFRS risks and to further identify environmental factors responsible for the increasing disease risks. We demonstrate a new perspective of integrating such spatial analysis tools into the epidemiologic study and risk assessment of HFRS.

  17. Hemorrhagic Fever with renal syndrome and its history in Iran.

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    Ardalan, Mohammadreza; Chinikar, Sadegh; Mohajel Shoja, Mohammadali

    2014-11-01

    Hemorrhagic fever with renal syndrome (HFRS) is a serious human disease of zoonotic viral origin. A group of different viruses that belong to the family of hemorrhagic fever could represent with HFRS. The basic pathophysiologic feature is virus-induced leaky microcirculation. There is no effective antiviral treatment against them. Because of rapid environmental changes, global warming, and increased global traveling, different hemorrhagic fever syndromes could be found anywhere in the world and beyond their old endemic borders. This review is a brief overview of HFRS in Iran during the early and mid-twentieth century.

  18. Spatio-temporal Evolution on Geographic Boundaries of HFRS Endemic Areas in Shandong Province, China

    Institute of Scientific and Technical Information of China (English)

    LIU Yan Xun; WANG Zhi Qiang; GUO Jing; TANG Fang; SUN Xiu Bin; XUE Fu Zhong; KANG Dian Min

    2013-01-01

    Objective To take effective strategies and measures for the prevention and control of hemorrhagic fever with renal syndrome (HFRS) endemic areas by investigating its dynamic geographical boundaries in Shandong Province, China. Methods The incidence of HFRS from 1982 to 2008 in Shandong Prvince, China, was detected with inverse distance weighting (IDW) interpolation based on geographical information system (GIS). Dynamic geographical boundaries of HFRS endemic areas in Shandong Province, China, were analyzed by geographical boundary analysis. Results The HTN-type endemic areas of HFRS were located in Linyi City in phase 1 (1982-1986), the SEO-type endemic areas of HFRS were located in Jining City in phase 2 (1987-2003), and the endemic areas of HFRS in Jining City gradually disappeared and the endemic areas of HFRS with mixed-types of reservoir rodents were located in Linyi City in phase 3 (2004-2008). Meanwhile, new endemic areas emerged in the northwestern Shandong province, China. Conclusion The SEO-type endemic areas of HFRS are located in western Shandong Province, China, and the HTN-type endemic areas of HFRS are located eastern Shandong Province, Chin, indicating that the endemic areas of HFRS should be vaccinated and rodents should be controlled.

  19. Hemorrhagic Fever with Renal Syndrome Associated with Acute Pancreatitis

    Institute of Scientific and Technical Information of China (English)

    Edmond Puca; Arben Pilaca; Pellumb Pipero; Dhimiter Kraja; Entela Y Puca

    2012-01-01

    Hemorrhagic fever with renal syndrome (HFRS) is a systemic infectious disease caused by Hantaviruses and characterized by fevers,bleeding tendencies,gastrointestinal symptoms and renal failure.It encompasses a broad spectrum of clinical presentations,ranging from unapparent or mild illnesses to fulminant hemorrhagic processes.Among the various complications of HFRS,acute pancreatitis is a rare find.In this report,based on clinical data,laboratory and radiologic examination findings,we describe a clinical case,with HFRS from Dobrava virus,associated with acute pancreatitis.The patient was successfully treated by supportive management.Clinicians should be alert to the possibility of HFRS when examining patients with epidemiological data and symptoms of acute pancreatitis.

  20. The epidemic characteristics and changing trend of hemorrhagic fever with renal syndrome in Hubei Province, China.

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    Yi-Hui Zhang

    Full Text Available BACKGROUND: Hemorrhagic fever with renal syndrome (HFRS is caused by different hantaviruses within the Bunyaviridae family. HFRS is a fulminant, infectious disease that occurs worldwide and is endemic in all 31 provinces of China. Since the first HFRS case in Hubei Province was reported in 1957, the disease has spread across the province and Hubei has become one of the seriously affected areas in China with the greatest number of reported HFRS cases in the 1980's. However, the epidemic characteristics of HFRS in Hubei are still not entirely clear and long-term, systematic investigations of this epidemic area have been very limited. METHODS: The spatiotemporal distribution of HFRS was investigated using data spanning the years 1980 to 2009. The annual HFRS incidence, fatality rate and seasonal incidence between 1980 and 2009 were calculated and plotted. GIS-based spatial analyses were conducted to detect the spatial distribution and seasonal pattern of HFRS. A spatial statistical analysis, using Kulldorff's spatial scan statistic, was performed to identify clustering of HFRS. RESULTS: A total of 104,467 HFRS cases were reported in Hubei Province between 1980 and 2009. Incidence of and mortality due to HFRS declined after the outbreak in 1980s and HFRS cases have been sporadic in recent years. The locations and scale of disease clusters have changed during the three decades. The seasonal epidemic pattern of HFRS was characterized by the shift from the unimodal type (autumn/winter peak to the bimodal type. CONCLUSIONS: Socioeconomic development has great influence on the transmission of hantaviruses to humans and new epidemic characteristics have emerged in Hubei Province. It is necessary to reinforce preventative measures against HFRS according to the newly-presented seasonal variation and to intensify these efforts especially in the urban areas of Hubei Province.

  1. The impact of the vaccination program for hemorrhagic fever with renal syndrome in Hu County, China.

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    Xiao, Dan; Wu, Kejian; Tan, Xin; Yan, Tiecheng; Li, Haitao; Yan, Yongping

    2014-02-03

    The incidence of hemorrhagic fever with renal syndrome (HFRS) in Hu County ranked third of all counties in China in 2010. Although this county has provided a HFRS vaccination program freely since 1994, the impact of HFRS remains quite substantial. In order to continue the vaccination program effectively and control HFRS, a detailed understanding of the effect of the vaccination program should be undertaken. The Cochran-Armitage trend test was employed to examine the temporal trends of HFRS incidences, mortality rate and vaccination compliance. Temporal cluster analysis was performed to detect time periods of high HFRS risk. Cross correlation analysis was conducted to detect the correlation between HFRS incidence and vaccination compliance. Wavelet analysis was employed to detect the shift of the periodicity of HFRS. Between 1971 and 2011, the HFRS incidence and mortality rate ranged from 9.53/100,000 to 300.57/100,000 and 0 to 24.91/100,000, respectively, with a fluctuating but distinctly declining trend (incidence: Z=-34.38, P1994. In conclusion, the increase in vaccination compliance may play an important role in HFRS control and prevention in Hu County, China.

  2. Effects of Climate and Rodent Factors on Hemorrhagic Fever with Renal Syndrome in Chongqing, China, 1997-2008.

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    Bai, Yuntao; Xu, Zhiguang; Lu, Bo; Sun, Qinghua; Tang, Wenge; Liu, Xiaobo; Yang, Weizhong; Xu, Xinyi; Liu, Qiyong

    2015-01-01

    China has the highest global incidence of hemorrhagic fever with renal syndrome (HFRS), constituting 90% of the cases in the world. Chongqing, located in the Three Gorges Reservoir Region, has been experiencing differences in the occurrence of HFRS from 1997 to 2008. The current study was designed to explore the effects of climate and rodent factors on the transmission of HFRS in Chongqing. Data on monthly HFRS cases, rodent strains, and climatic factors were collected from 1997 to 2008. Spatio-temporal analysis indicated that most HFRS cases were clustered in central Chongqing and that the incidence of HFRS decreased from 1997 to 2008. Poisson regression models showed that temperature (with lagged months of 0 and 5) and rainfall (with 2 lagged months) were key climatic factors contributing to the transmission of HFRS. A zero-inflated negative binomial model revealed that rodent density was also significantly associated with the occurrence of HFRS in the Changshou district. The monthly trend in HFRS incidence was positively associated with rodent density and rainfall and negatively associated with temperature. Possible mechanisms are proposed through which construction of the dam influenced the incidence of HFRS in Chongqing. The findings of this study may contribute to the development of early warning systems for the control and prevention of HFRS in the Three Gorges Reservoir Region.

  3. Hemorrhagic Fever with Renal Syndrome: Diagnostic Problems with a Known Disease

    OpenAIRE

    Wichmann, Dominic; Slenczka, Werner; Alter, Peter; Boehm, Stephan; Feldmann, Heinz

    2001-01-01

    Hemorrhagic fever with renal syndrome (HFRS), caused by different hantaviruses, is a distinct clinical syndrome endemic in several parts of Asia and Europe. However, the clinical picture can sometimes be indistinguishable from that of other infectious or noninfectious diseases. In this report we describe a clinical case, which is a rare occurrence but is a prime example of the difficulties in the diagnosis of HFRS in areas with a low prevalence of the disease.

  4. Atmospheric moisture variability and transmission of hemorrhagic fever with renal syndrome in Changsha City, Mainland China, 1991-2010.

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    Hong Xiao

    Full Text Available BACKGROUND: The transmission of hemorrhagic fever with renal syndrome (HFRS is influenced by environmental determinants. This study aimed to explore the association between atmospheric moisture variability and the transmission of hemorrhagic fever with renal syndrome (HFRS for the period of 1991-2010 in Changsha, China. METHODS AND FINDINGS: Wavelet analyses were performed by using monthly reported time series data of HFRS cases to detect and quantify the periodicity of HFRS. A generalized linear model with a Poisson distribution and a log link model were used to quantify the relationship between climate and HFRS cases, highlighting the importance of moisture conditions. There was a continuous annual oscillation mode and multi-annual cycle around 3-4 years from 1994 to 1999. There was a significant association of HFRS incidence with moisture conditions and the Multivariate El Niño-Southern Oscillation Index (MEI. Particularly, atmospheric moisture has a significant effect on the propagation of HFRS; annual incidence of HFRS was positively correlated with annual precipitation and annual mean absolute humidity. CONCLUSIONS: The final model had good accuracy in forecasting the occurrence of HFRS and moisture condition can be used in disease surveillance and risk management to provide early warning of potential epidemics of this disease.

  5. Temporal trend and climate factors of hemorrhagic fever with renal syndrome epidemic in Shenyang City, China

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    Liu Xiaodong

    2011-12-01

    Full Text Available Abstract Background Hemorrhagic fever with renal syndrome (HFRS is an important infectious disease caused by different species of hantaviruses. As a rodent-borne disease with a seasonal distribution, external environmental factors including climate factors may play a significant role in its transmission. The city of Shenyang is one of the most seriously endemic areas for HFRS. Here, we characterized the dynamic temporal trend of HFRS, and identified climate-related risk factors and their roles in HFRS transmission in Shenyang, China. Methods The annual and monthly cumulative numbers of HFRS cases from 2004 to 2009 were calculated and plotted to show the annual and seasonal fluctuation in Shenyang. Cross-correlation and autocorrelation analyses were performed to detect the lagged effect of climate factors on HFRS transmission and the autocorrelation of monthly HFRS cases. Principal component analysis was constructed by using climate data from 2004 to 2009 to extract principal components of climate factors to reduce co-linearity. The extracted principal components and autocorrelation terms of monthly HFRS cases were added into a multiple regression model called principal components regression model (PCR to quantify the relationship between climate factors, autocorrelation terms and transmission of HFRS. The PCR model was compared to a general multiple regression model conducted only with climate factors as independent variables. Results A distinctly declining temporal trend of annual HFRS incidence was identified. HFRS cases were reported every month, and the two peak periods occurred in spring (March to May and winter (November to January, during which, nearly 75% of the HFRS cases were reported. Three principal components were extracted with a cumulative contribution rate of 86.06%. Component 1 represented MinRH0, MT1, RH1, and MWV1; component 2 represented RH2, MaxT3, and MAP3; and component 3 represented MaxT2, MAP2, and MWV2. The PCR model

  6. Hemorrhagic fever with renal syndrome in Montenegro.

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    Gledovic, Z B; Jeknic, A S; Grgurevic, A D; Rakocevic, B B; Bozovic, B R; Mugosa, B V

    2008-09-01

    The objective of the study was to analyze the epidemiological features of hemorrhagic fever with renal syndrome (HFRS) in Montenegro. The study included 169 cases of HFRS diagnosed in the period between 1995 and 2005 according to the clinical symptoms and serological confirmation. For the analysis of the demographic characteristics of the cases, as well as of the chronological and topographical features of the disease, a descriptive epidemiological method was employed. The average incidence rate in the observed period was 2.6 per 100,000. In the observed period, 8 people died; the average case fatality rate was 4.8% (range: 0.1-15%). Among the diseased persons, 116 were males and 53 were females; most of the cases were adults. The greatest number of HFRS cases occurred during the summer months. The highest incidence rates were registered in the northeastern, rural part of the country. The most frequent type of hantaviruses in Montenegro were Dobrava-Belgrade and Hantaan, carried by rodent species, i.e., the yellow-neck mouse and the striped-field mouse. It is likely that HFRS in Montenegro will become more common in the near future, unless public health control measures are taken.

  7. Spatiotemporal transmission dynamics of hemorrhagic fever with renal syndrome in China, 2005-2012.

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    Wen-Yi Zhang

    2014-11-01

    Full Text Available Hemorrhagic fever with renal syndrome (HFRS is a rodent-borne disease caused by many serotypes of hantaviruses. In China, HFRS has been recognized as a severe public health problem with 90% of the total reported cases in the world. This study describes the spatiotemporal dynamics of HFRS cases in China and identifies the regions, time, and populations at highest risk, which could help the planning and implementation of key preventative measures.Data on all reported HFRS cases at the county level from January 2005 to December 2012 were collected from Chinese Center for Disease Control and Prevention. Geographic Information System-based spatiotemporal analyses including Local Indicators of Spatial Association and Kulldorff's space-time scan statistic were performed to detect local high-risk space-time clusters of HFRS in China. In addition, cases from high-risk and low-risk counties were compared to identify significant demographic differences.A total of 100,868 cases were reported during 2005-2012 in mainland China. There were significant variations in the spatiotemporal dynamics of HFRS. HFRS cases occurred most frequently in June, November, and December. There was a significant positive spatial autocorrelation of HFRS incidence during the study periods, with Moran's I values ranging from 0.46 to 0.56 (P<0.05. Several distinct HFRS cluster areas were identified, mainly concentrated in northeastern, central, and eastern of China. Compared with cases from low-risk areas, a higher proportion of cases were younger, non-farmer, and floating residents in high-risk counties.This study identified significant space-time clusters of HFRS in China during 2005-2012 indicating that preventative strategies for HFRS should be particularly focused on the northeastern, central, and eastern of China to achieve the most cost-effective outcomes.

  8. Spatiotemporal heterogeneity analysis of hemorrhagic fever with renal syndrome in China using geographically weighted regression models.

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    Li, Shujuan; Ren, Hongyan; Hu, Wensheng; Lu, Liang; Xu, Xinliang; Zhuang, Dafang; Liu, Qiyong

    2014-11-25

    Hemorrhagic fever with renal syndrome (HFRS) is an important public health problem in China. The identification of the spatiotemporal pattern of HFRS will provide a foundation for the effective control of the disease. Based on the incidence of HFRS, as well as environmental factors, and social-economic factors of China from 2005-2012, this paper identified the spatiotemporal characteristics of HFRS distribution and the factors that impact this distribution. The results indicate that the spatial distribution of HFRS had a significant, positive spatial correlation. The spatiotemporal heterogeneity was affected by the temperature, precipitation, humidity, NDVI of January, NDVI of August for the previous year, land use, and elevation in 2005-2009. However, these factors did not explain the spatiotemporal heterogeneity of HFRS incidences in 2010-2012. Spatiotemporal heterogeneity of provincial HFRS incidences and its relation to environmental factors would provide valuable information for hygiene authorities to design and implement effective measures for the prevention and control of HFRS in China.

  9. Spatiotemporal Heterogeneity Analysis of Hemorrhagic Fever with Renal Syndrome in China Using Geographically Weighted Regression Models

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    Shujuan Li

    2014-11-01

    Full Text Available Hemorrhagic fever with renal syndrome (HFRS is an important public health problem in China. The identification of the spatiotemporal pattern of HFRS will provide a foundation for the effective control of the disease. Based on the incidence of HFRS, as well as environmental factors, and social-economic factors of China from 2005–2012, this paper identified the spatiotemporal characteristics of HFRS distribution and the factors that impact this distribution. The results indicate that the spatial distribution of HFRS had a significant, positive spatial correlation. The spatiotemporal heterogeneity was affected by the temperature, precipitation, humidity, NDVI of January, NDVI of August for the previous year, land use, and elevation in 2005–2009. However, these factors did not explain the spatiotemporal heterogeneity of HFRS incidences in 2010–2012. Spatiotemporal heterogeneity of provincial HFRS incidences and its relation to environmental factors would provide valuable information for hygiene authorities to design and implement effective measures for the prevention and control of HFRS in China.

  10. IgM AUTOANTIBODIES TO DNA IN BLOOD SERUM OF THE PATIENTS WITH HEMORRHAGIC FEVER WITH RENAL SYNDROME

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    D. G. Ishmukhametova

    2010-01-01

    Full Text Available Levels of IgM autoantibodies (AAbs to native (double-stranded and denaturated (single-stranded DNA were studied in blood serum of sixty patients with hemorrhagic fever with renal syndrome (HFRS and twenty-five healthy persons, using an ELISA technique. The median levels of IgM AAbs to double-stranded DNA in blood serum of healthy persons and HFRS patients corresponded to 0.41 and 0.53 arbitrary units, respectively. Thus, the difference between the samples from HFRS and healthy persons proved to be non-significant. The median level of IgM AAbs to single-stranded DNA in blood sera of HFRS patients (0.71 arbitrary units did significantly exceed serum values of healthy persons (0.57 arbitrary units. A probable involvement of IgM AAbs into regulation of IgG AAbs' production during virus-induced activation of autoimmune events in HFRS patients is discussed.

  11. Analysis of incidence and related factors of hemorrhagic fever with renal syndrome in Hebei Province, China.

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    Qi Li

    Full Text Available BACKGROUND: Hemorrhagic fever with renal syndrome (HFRS is an important infectious disease in Hebei province, China. The average annual incidence is 3.10/100000. Although the incidence of HFRS is stable with a general decline in trend since 2004, an increase in the trend was observed in 2011. Few studies have been conducted to investigate the underlying risk factors for this disease. METHODS: The epidemiological data of HFRS and the population data, meteorology, and remote sensing aspects of cities in Hebei province from 1999 to 2011 were collected. The epidemiological data included the population density in the region, seasonal data and rat density and rat's virus carriage rate. The data were analyzed by descriptive study, correlation analysis and multivariate linear analysis. RESULTS: There were 26837 cases of HFRS was reported from 1999 to 2011. The infection occurred mainly in males, aged 20∼49 years, who were farmers. Rattus norvegicus was the main host animal. The incidence of HFRS was related to NDVI value, rat density and rat's virus carriage rate by multiple linear regression (F = 25.936, P<0.01. The pseudo- R2value for the model was 0.644. CONCLUSION: The incidence of HFRS was related to NDVI value, rat density and rat's virus carriage rate. Control of these factors should be used to prevent HFRS in Hebei province.

  12. Analysis of hemorrhagic fever with renal syndrome and its pathogenic gene sequence based on geographic information system.

    Science.gov (United States)

    Tang, Z; Xu, X J; He, X J; Liang, Z S; Liang, W B; Li, Y; Gao, K

    2017-01-01

    This study analyzed the temporal-spatial distribution characteristics, epidemiological characteristics and gene sequences of hemorrhagic fever with renal syndrome (HFRS) in Guangxi, with the intention of providing a theoretical and technical support for the prevention of HFRS. A map of the incidence of HFRS of different cities in Guangxi was drawn up using the Geographic Information System (GIS) to investigate the epidemiological characteristics and infection source of HFRS between 2013 and 2016. Guangxi has a low incidence of HFRS, and autumn and winter are the main high-incidence seasons. Cases of HFRS were reported in all regions in Guangxi except Laibin city between 2013 and 2016. The distribution of cases in the four years suggested that Guilin, Nanning, Hechi and Wuzhou were the main infected regions, especially the local areas in the north of Guilin. The nucleotide and amino acid of S fragment and M fragment of Hantaviruses (HV) detected were highly homologous, and no obvious variation was found. Through analyzing the space-time characteristics, epidemiological characteristics and gene sequence of HFRS in Guangxi, it was found that areas rich in water, grass and moisture, such as paddy fields, are the main active areas for the host of HFRS.

  13. Epidemiologic characteristics of haemorrhagic fever with renal syndrome in Mainland China from 2006 to 2010

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    Shiwen Wang

    2012-02-01

    Full Text Available Objective: To design effective prevention and control strategies for haemorrhagic fever with renal syndrome (HFRS in Mainland China, we evaluated the epidemiologic characteristics and trends of HFRS cases reported between 2006 and 2010.Methods: HFRS data from 1970 to 2010 were obtained from the China Notifiable Disease Reporting System (CNDRS. The cases analysed included clinical cases and laboratory-confirmed cases. Data was extracted for statistical analysis by time, region and profession; the incidence rate was obtained directly from CNDRS. In this study, we analysed the morbidity and mortality data of HFRS from 2006 to 2010.Results: HFRS cases trended downward from 2006 (15 098 to 2009 (8745, but exhibited a slight increase in 2010 (9526. Twenty-nine of 31 provinces reported HFRS cases between 2006 and 2010. Five provinces, namely, Heilongjiang, Jilin and Liaoning in the North-east, Shandong in the east, and Shaanxi in the central part of China, were characterized as high-endemic areas. Seasonal case distribution was bimodal, with peaks of cases in spring and winter. Young male farmers were the most susceptible population to HFRS. Early- to middle-aged adults (20–50 years old represented the largest groups of HFRS cases.Conclusion: The overall number of cases of HFRS in China has trended downward possibly due to national vaccine and rodent vector control programmes implemented in the past 25 years. However, this trend slowed down in the last five years. High-endemic regions and at-risk population groups still exist and will benefit from further targeted prevention strategies.

  14. Spatial analysis of hemorrhagic fever with renal syndrome in Zibo City, China, 2009-2012.

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    Feng Cui

    Full Text Available BACKGROUND: Hemorrhagic fever with renal syndrome (HFRS is highly endemic in mainland China, where human cases account for 90% of the total global cases. Zibo City is one of the most serious affected areas in Shandong Province China with the HFRS incidence increasing sharply from 2009 to 2012. However, the hotspots of HFRS in Zibo remained unclear. Thus, a spatial analysis was conducted with the aim to explore the spatial, spatial-temporal and seasonal patterns of HFRS in Zibo from 2009 to 2012, and to provide guidance for formulating regional prevention and control strategies. METHODS: The study was based on the reported cases of HFRS from the National Notifiable Disease Surveillance System. Annualized incidence maps and seasonal incidence maps were produced to analyze the spatial and seasonal distribution of HFRS in Zibo City. Then spatial scan statistics and space-time scan statistics were conducted to identify clusters of HFRS. RESULTS: There were 200 cases reported in Zibo City during the 4-year study period. One most likely cluster and one secondary cluster for high incidence of HFRS were identified by the space-time analysis. And the most likely cluster was found to exist at Yiyuan County in October to December 2012. The human infections in the fall and winter reflected a seasonal characteristic pattern of Hantaan virus (HTNV transmission. The secondary cluster was detected at the center of Zibo in May to June 2009, presenting a seasonal characteristic of Seoul virus (SEOV transmission. CONCLUSION: To control and prevent HFRS in Zibo city, the comprehensive preventive strategy should be implemented in the southern areas of Zibo in autumn and in the northern areas of Zibo in spring.

  15. Changes in rodent abundance and weather conditions potentially drive hemorrhagic fever with renal syndrome outbreaks in Xi'an, China, 2005-2012.

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    Huai-Yu Tian

    2015-03-01

    Full Text Available Increased risks for hemorrhagic fever with renal syndrome (HFRS caused by Hantaan virus have been observed since 2005, in Xi'an, China. Despite increased vigilance and preparedness, HFRS outbreaks in 2010, 2011, and 2012 were larger than ever, with a total of 3,938 confirmed HFRS cases and 88 deaths in 2010 and 2011.Data on HFRS cases and weather were collected monthly from 2005 to 2012, along with active rodent monitoring. Wavelet analyses were performed to assess the temporal relationship between HFRS incidence, rodent density and climatic factors over the study period. Results showed that HFRS cases correlated to rodent density, rainfall, and temperature with 2, 3 and 4-month lags, respectively. Using a Bayesian time-series Poisson adjusted model, we fitted the HFRS outbreaks among humans for risk assessment in Xi'an. The best models included seasonality, autocorrelation, rodent density 2 months previously, and rainfall 2 to 3 months previously. Our models well reflected the epidemic characteristics by one step ahead prediction, out-of-sample.In addition to a strong seasonal pattern, HFRS incidence was correlated with rodent density and rainfall, indicating that they potentially drive the HFRS outbreaks. Future work should aim to determine the mechanism underlying the seasonal pattern and autocorrelation. However, this model can be useful in risk management to provide early warning of potential outbreaks of this disease.

  16. Anterior pituitary lobe atrophy as late complication of hemorrhagic fever with renal syndrome

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    Jovanović Dragan

    2009-01-01

    Full Text Available Introduction. Hemorrhagic fever with renal syndrome (HFRS is acute infective multisystemic disease followed by febrility, hemorrhages and acute renal insufficiency. Bleeding in the anterior pituitary lobe leading to tissue necrosis occurs in acute stage of severe clinical forms of HFRS, while atrophy of the anterior pituitary lobe with diminution of the gland function occurs after recovery stage. Case report. We presented a patient with the development of chronic renal insufficiency and hypopituitarism as complication that had been diagnosed six years after Hantavirus infection. Magnetic resonance of the pituitary gland revealed atrophy and empty sella turcica. Conclusion. Regarding frequency of this viral infection and its endemic character in some parts of our country partial and/or complete loss of pituitary function should be considered during the late stage of HFRS.

  17. Experience With Intravenous Ribavirin in the Treatment of Hemorrhagic Fever With Renal Syndrome in Korea

    Science.gov (United States)

    2009-01-01

    baseline pregnancy test was obtained in women. Baseline and daily laboratory tests included complete blood count, serum electrolytes, renal and liver...used to confirmHFRS diagnosis . Sero- logical tests were obtained at baseline and the subsequent 2 days. Tests were performed at the 121st General...J.C.,Moussinga, N., 1992. Bloc auriculo-ventriculaire chez deux patients atteints de fievre hemorragique avec syndrome renal ( Nephropathies a Hantaan

  18. Hemorrhagic fever with renal syndrome:pathogenesis and clinical picture

    OpenAIRE

    2016-01-01

    Hantaan virus (HTNV) causes hemorrhagic fever with renal syndrome (HFRS), which is a zoonosis endemic in eastern Asia, especially in China. The reservoir host of HTNV is field mouse (Apodemus agraricus). The main manifestation of HFRS, including acute kidney injury, increases vascular permeability and coagulation abnormalities. In this paper, we review the current knowledge of the pathogenesis of HFRS including virus factor, immunity factor and host genetic factors. Furthermore, the treatmen...

  19. Clinical study of critical patients with hemorrhagic fever with renal syndrome complicated by acute respiratory distress syndrome.

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    Hong Du

    Full Text Available OBJECTIVES: The aim of this study was to investigate the clinical characteristics and outcomes of critical patients with hemorrhagic fever with renal syndrome (HFRS complicated by acute respiratory distress syndrome (ARDS. MATERIALS AND METHODS: To observe the demographic, epidemiological and clinical characteristics, and to explore the predictive effects for prognosis in laboratory findings, we conducted a detailed retrospective analysis of clinical records for critical patients with HFRS complicated by ARDS, treated at the center for infectious diseases, Tangdu Hospital, between January 2008 and December 2012. RESULTS: A total of 48 critical patients with laboratory confirmed HFRS accompanied by ARDS were enrolled in the study, including 27 survivors and 21 non-survivors, with a fatality rate of 43.75%. Thirty-one individuals (64.6% contracted HFRS between the months of September and December. The non-survivors tended to have lower incidence of overlapping phase (P = 0.025. There were no obvious differences in the needs for mechanical ventilation (MV and renal replacement therapy (RRT, except for the need for vasoactive drugs between the survivors and non-survivors (P = 0.001. The non-survivors were found to have higher frequencies of encephalopathy, refractory shock and multiple organ dysfunction syndrome (MODS, lower incidences of acute renal failure (ARF and secondary hypertension (P<0.05. The non-survivors tended to have lower levels of serum creatinine (Scr (P<0.001 and fibrinogen (Fib (P = 0.003, higher incidences of prolonged prothrombin time (PT (P = 0.006 and activated partial thromboplastin time (APTT (P = 0.020 and higher levels of aspartate aminotransferase (AST (P = 0.015, and the laboratory parameters mentioned above reached statistical significance for predicting prognosis (P<0.05. CONCLUSION: The high mortality rate of critical patients with HFRS complicated by ARDS emphasizes the importance of

  20. The spatial analysis on hemorrhagic fever with renal syndrome in Jiangsu province, China based on geographic information system.

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    Changjun Bao

    Full Text Available Hemorrhagic fever with renal syndrome (HFRS is endemic in mainland China, accounting for 90% of total reported cases worldwide, and Jiangsu is one of the most severely affected provinces. In this study, the authors conducted GIS-based spatial analyses in order to determine the spatial distribution of the HFRS cases, identify key areas and explore risk factors for public health planning and resource allocation.Interpolation maps by inverse distance weighting were produced to detect the spatial distribution of HFRS cases in Jiangsu from 2001 to 2011. Spatio-temporal clustering was applied to identify clusters at the county level. Spatial correlation analysis was conducted to detect influencing factors of HFRS in Jiangsu.HFRS cases in Jiangsu from 2001 to 2011 were mapped and the results suggested that cases in Jiangsu were not distributed randomly. Cases were mainly distributed in northeastern and southwestern Jiangsu, especially in Dafeng and Sihong counties. It was notable that prior to this study, Sihong county had rarely been reported as a high-risk area of HFRS. With the maximum spatial size of 50% of the total population and the maximum temporal size of 50% of the total population, spatio-temporal clustering showed that there was one most likely cluster (LLR = 624.52, P<0.0001, RR = 8.19 and one second-most likely cluster (LLR = 553.97, P<0.0001, RR = 8.25, and both of these clusters appeared from 2001 to 2004. Spatial correlation analysis showed that the incidence of HFRS in Jiangsu was influenced by distances to highways, railways, rivers and lakes.The application of GIS together with spatial interpolation, spatio-temporal clustering and spatial correlation analysis can effectively identify high-risk areas and factors influencing HFRS incidence to lay a foundation for researching its pathogenesis.

  1. Elevated soluble CD163 plasma levels are associated with disease severity in patients with hemorrhagic fever with renal syndrome.

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    Junning Wang

    Full Text Available Hantaan virus is a major zoonotic pathogen that causesing hemorrhagic fever with renal syndrome (HFRS. Although HFRS pathogenesis has not been entirely elucidated, the importance of host-related immune responses in HFRS pathogenesis has been widely recognized. CD163, a monocyte and macrophage-specific scavenger receptor that plays a vital function in the hosts can reduce inflammation, is shed during activation as soluble CD163 (sCD163. The aim of this study was to investigate the pathological significance of sCD163 in patients with HFRS.Blood samples were collected from 81 hospitalized patients in Tangdu Hospital from October 2011 to January 2014 and from 15 healthy controls. The sCD163 plasma levels were measured using a sandwich ELISA, and the relationship between sCD163 and disease severity was analyzed. Furthermore, CD163 expression in 3 monocytes subset was analyzed by flow cytometry.The results demonstrated that sCD163 plasma levels during the HFRS acute phase were significantly higher in patients than during the convalescent stage and the levels in the healthy controls (P<0.0001. The sCD163 plasma levels in the severe/critical group were higher than those in the mild/moderate group during the acute (P<0.0001. A Spearman correlation analysis indicated that the sCD163 levels were positively correlated with white blood cell, serum creatine, blood urea nitrogen levels, while they were negatively correlated with blood platelet levels in the HFRS patients. The monocyte subsets were significantly altered during the acute stage. Though the CD163 expression levels within the monocyte subsets were increased during the acute stage, the highest CD163 expression level was observed in the CD14++CD16+ monocytes when compared with the other monocyte subsets.sCD163 may be correlated with disease severity and the disease progression in HFRS patients; however, the underlying mechanisms should be explored further.

  2. Modeling and predicting hemorrhagic fever with renal syndrome trends based on meteorological factors in Hu County, China.

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    Dan Xiao

    Full Text Available Hu County is a serious hemorrhagic fever with renal syndrome (HFRS epidemic area, with notable fluctuation of the HFRS epidemic in recent years. This study aimed to explore the optimal model for HFRS epidemic prediction in Hu.Three models were constructed and compared, including a generalized linear model (GLM, a generalized additive model (GAM, and a principal components regression model (PCRM. The fitting and predictive adjusted R2 of each model were calculated. Ljung-Box Q tests for fitted and predicted residuals of each model were conducted. The study period was stratified into before (1971-1993 and after (1994-2012 vaccine implementation epochs to avoid the confounding factor of vaccination.The autocorrelation of fitted and predicted residuals of the GAM in the two epochs were not significant (Ljung-Box Q test, P>.05. The adjusted R2 for the predictive abilities of the GLM, GAM, and PCRM were 0.752, 0.799, and 0.665 in the early epoch, and 0.669, 0.756, and 0.574 in the recent epoch. The adjusted R2 values of the three models were lower in the early epoch than in the recent epoch.GAM is superior to GLM and PCRM for monthly HFRS case number prediction in Hu County. A shift in model reliability coincident with vaccination implementation demonstrates the importance of vaccination in HFRS control and prevention.

  3. Investigating the effects of food available and climatic variables on the animal host density of hemorrhagic Fever with renal syndrome in changsha, china.

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    Hong Xiao

    Full Text Available BACKGROUND: The transmission of hemorrhagic fever with renal syndrome (HFRS is influenced by population dynamics of its main host, rodents. It is therefore important to better understand rodents' characteristic in epidemic areas. METHODOLOGY/PRINCIPAL FINDINGS: We examined the potential impact of food available and climatic variability on HFRS rodent host and developed forecasting models. Monthly rodent density of HFRS host and climate data in Changsha from January 2004 to December 2011 were obtained. Monthly normalized difference vegetation index (NDVI and temperature vegetation dryness index (TVDI for rice paddies were extracted from MODIS data. Cross-correlation analysis were carried out to explore correlation between climatic variables and food available with monthly rodent data. We used auto-regressive integrated moving average model with explanatory variables to examine the independent contribution of climatic variables and food supply to rodent density. The results indicated that relative rodent density of HFRS host was significantly correlated with monthly mean temperatures, monthly accumulative precipitation, TVDI and NDVI with lags of 1-6 months. CONCLUSIONS/SIGNIFICANCE: Food available plays a significant role in population fluctuations of HFRS host in Changsha. The model developed in this study has implications for HFRS control and prevention.

  4. Investigating the effects of food available and climatic variables on the animal host density of hemorrhagic Fever with renal syndrome in changsha, china.

    Science.gov (United States)

    Xiao, Hong; Liu, Hai-Ning; Gao, Li-Dong; Huang, Cun-Rui; Li, Zhou; Lin, Xiao-Ling; Chen, Bi-Yun; Tian, Huai-Yu

    2013-01-01

    The transmission of hemorrhagic fever with renal syndrome (HFRS) is influenced by population dynamics of its main host, rodents. It is therefore important to better understand rodents' characteristic in epidemic areas. We examined the potential impact of food available and climatic variability on HFRS rodent host and developed forecasting models. Monthly rodent density of HFRS host and climate data in Changsha from January 2004 to December 2011 were obtained. Monthly normalized difference vegetation index (NDVI) and temperature vegetation dryness index (TVDI) for rice paddies were extracted from MODIS data. Cross-correlation analysis were carried out to explore correlation between climatic variables and food available with monthly rodent data. We used auto-regressive integrated moving average model with explanatory variables to examine the independent contribution of climatic variables and food supply to rodent density. The results indicated that relative rodent density of HFRS host was significantly correlated with monthly mean temperatures, monthly accumulative precipitation, TVDI and NDVI with lags of 1-6 months. Food available plays a significant role in population fluctuations of HFRS host in Changsha. The model developed in this study has implications for HFRS control and prevention.

  5. Determination of CD30 Expression on Peripheral Blood T Lymphocyte Subsets in Patients with Hemorrhagic Fever with Renal Syndrome by FCM

    Institute of Scientific and Technical Information of China (English)

    XIONG; Lijuan; LUO; Duande; ZENG; Linglan; LI; Shuli

    2001-01-01

    To determine the CD30 expression on peripheral blood T lymphocyte subsets in patients with hemorrhagic fever with renal syndrome (HFRS) and its clinical implications, double immunofluorescence technique and flow cytometry were used. There was no significant difference among the severe group, mild-moderate group and normal control group in the CD4+CD30- T lymphocyte subset.While the CD4+CD30+ T cells of HFRS patients were increased and the difference between severe group and mild-moderate group or normal control group were very significant (P<0. 01) and the difference between the mild-moderate group and normal control group was also significant (P<0. 05). The CD8+CD30-T cells were increased while the CD8+CD30+ T cells decreased obviously in HFRS patients,and the differences among three groups in both subsets were very significant (P<0. 01). The results showed that the humoral immunity and cellular immunity are overactive in HFRS patients during acute phase. The loss of balance between T lymphocyte subsets may play an important role in the pathophysiology of HFRS and is closely correlated with the severity of the HFRS.

  6. Collective immunity of the population from endemic zones of hemorrhagic fever with renal syndrome in Kosovo.

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    Muçaj, Sefedin; Kabashi, Serbeze; Ahmeti, Salih; Dedushaj, Isuf; Ramadani, Naser; Avsic-Zupanc, Tatjana

    2009-01-01

    Hemorrhagic fever with renal syndrome (HFRS), also known as mice fever is an acute viral zoonosis and it appears in the natural focus after the human contact with Hantaan virus infected mice. The objective (purpose) of this study was to investigate the prevalence of specific antibodies in HFRS, in convalescent persons (collective immunity in endemic hearths). In this project we applied the epidemiological method of studying with retrospective-perspective, the serological method for determination and detecting antibodies from the persons of epidemical focus and statistical methods. The disease diagnosis is based on the epidemiological, clinical and serological records. The collected samples have been sent to referral laboratory in Medical Faculty-Institute of Microbiology Ljubljana for laboratory confirmation. From the results we came to conclusion that in the territory of Republic of Kosovo, the HFRS is still a serious health, economic and biological problem. The lethality rate from HFRS in 1986 was 15.4%, 1986-89 10.8%, from 1995-2006 8.70%. The lowest rates of morbidity, mortality and lethality of HFRS compared with the previous periods of time, prove collective immunity growth in Dukagjini valley. For collective immunity research and to conduct the persistence of antibodies for viral corresponding (relative) antigen, after the disease, the samples were collected in the time period of May-June 2008, with 203 persons that were tested with serological method IIF (Indirect immune fluorescence) from which 187 cases (92.1%) resulted sero-negative and 16 cases (7.9%) resulted sero-positive with HFRS. This proves the collective immunity increase for HFRS. From 13 recovered patients previously diagnosed with HFRS (1986-1989-1995), levels of antibodies were screened in 2008 with IIF. Out of 13 persons, positive antibodies were found in 10 cases, while 3 cases were negative for antibodies (HTN, PUU, and DOB). After 13, 19 and 22 years HTN, PUU and DOB antibodies persisted

  7. Immunization effect of purified bivalent vaccine to haemorrhagic fever with renal syndrome manufactured from primary cultured hamster kidney cells

    Institute of Scientific and Technical Information of China (English)

    DONG Guan-mu; HAN Liang; AN Qi; LIU Wen-xue; KONG Yan; YANG Li-hong

    2005-01-01

    @@ Haemorrhagic fever with renal syndrome (HFRS) is a worldwide epidemic plaguing over thirty nations. This disease has spread across 26 provinces, cities and autonomous regions of China with an annual onsets number of more than a hundred thousand and a mortality rate of 5% to 15%, accounting for over 80% of cases in the world, and threatening the safety and health of Chinese people.1 Analysis of serum samples over recent years indicates that the plagued areas are expanding.

  8. Branchio-oto-renal syndrome.

    Science.gov (United States)

    Jalil, Jawad; Basheer, Faisal; Shafique, Mobeen

    2014-05-01

    The association of branchial arch anomalies (branchial cysts, branchial fistulas), hearing loss and renal anomalies constitutes the branchio-oto-renal (BOR) syndrome also known as Melnick Fraser syndrome. We present a case of this rare disorder in a girl child who presented with profound deafness, preauricular pits, branchial sinuses and renal hypoplasia.

  9. OCULO-CEREBRO-RENAL SYNDROME (LOWE'S SYNDROME)

    Institute of Scientific and Technical Information of China (English)

    1991-01-01

    Oculo-cerebro-renal syndrome (Lowe's syndrome) is characterized by mental and motor retardation, cataract, glaucoma and renal abnormalities. It is an X-linked recessive metabolic disease. Two brothers suffering from Lowe's syndrome are reported. Their mother with lenticular opacities and peculiar facial appearance is in concordance with the obligate carrier. The ocular changes and heridity are discussed.

  10. [Pulmonary-renal syndrome].

    Science.gov (United States)

    Risso, Jorge A; Mazzocchi, Octavio; De All, Jorge; Gnocchi, César A

    2009-01-01

    The pulmonary-renal syndrome is defined as a combination of diffuse alveolar hemorrhage and glomerulonephritis. The coexistence of these two clinical conditions is due to diseases with different pathogenic mechanisms. Primary systemic vasculitis and Goodpasture syndrome are the most frequent etiologies. Systemic lupus erythematosus, connective tissue diseases, negative anti neutrophil cytoplasmic antibody vasculitis and those secondary to drugs are far less common causes. An early diagnosis based on clinical, radiologic, laboratory and histologic criteria enables early treatment, thus diminishing its high morbidity-mortality rate. Therapy is based on high doses of corticosteroids, immunosuppressants, tumor necrosis factor inhibitors and plasmapheresis.

  11. Serum TNF-α, sTNFR1, IL-6, IL-8 and IL-10 levels in hemorrhagic fever with renal syndrome.

    Science.gov (United States)

    Kyriakidis, Ioannis; Papa, Anna

    2013-07-01

    It is generally accepted that the pathogenesis of hantavirus infections is the result of virus-mediated host immune response. Hantaviruses, and mainly Dobrava-Belgrade virus, are present in Greece, and cause to humans hemorrhagic fever with renal syndrome (HFRS). Serum IL-6, IL-8, IL-10, TNF-α and sTNFR1 levels were measured in 29 HFRS Greek patients. Significant higher sTNFR1, IL-6, IL-8 and IL-10 levels were observed in severe than in mild/moderate cases, while TNF-α did not seem to be associated with disease severity. Correlations between cytokine levels and their fluctuation over time after onset of the illness, along with comparisons from previously published data on the field, led in building an immune response pattern for HFRS.

  12. Study on comprehensive monitoring of mouse and effect of hemorrhagic fever with renal syndrome vaccine in high prevalence areas of natural focus infectious disease of Zhejiang province in 1994-2010

    Institute of Scientific and Technical Information of China (English)

    龚震宇

    2012-01-01

    Objective To study the comprehensive monitoring mechanism of mouse and the effect of hemorrhagic fever with renal syndrome(HFRS) vaccine in the high prevalence areas of natural focus infectious disease of Zhejiang province in 1994-2010. Methods The night trapping method was used to monitor the population proportion, density

  13. Dobrava virus carried by the yellow-necked field mouse Apodemus flavicollis, causing hemorrhagic fever with renal syndrome in Romania.

    Science.gov (United States)

    Panculescu-Gatej, Raluca Ioana; Sirbu, Anca; Dinu, Sorin; Waldstrom, Maria; Heyman, Paul; Murariu, Dimitru; Petrescu, Angela; Szmal, Camelia; Oprisan, Gabriela; Lundkvist, Ake; Ceianu, Cornelia S

    2014-05-01

    Hemorrhagic fever with renal syndrome (HFRS) has been confirmed by serological methods during recent years in Romania. In the present study, focus-reduction neutralization tests (FRNT) confirmed Dobrava hantavirus (DOBV) as the causative agent in some HFRS cases, but could not distinguish between DOBV and Saaremaa virus (SAAV) infections in other cases. DOBV was detected by a DOBV-specific TaqMan assay in sera of nine patients out of 22 tested. Partial sequences of the M genomic segment of DOBV were obtained from sera of three patients and revealed the circulation of two DOBV lineages in Romania. Investigation of rodents trapped in Romania found three DOBV-positive Apodemus flavicollis out of 83 rodents tested. Two different DOBV lineages were also detected in A. flavicollis as determined from partial sequences of the M and S genomic segments. Sequences of DOBV in A. flavicollis were either identical or closely related to the sequences obtained from the HFRS patients. The DOBV strains circulating in Romania clustered in two monophyletic groups, together with strains from Slovenia and the north of Greece. This is the first evidence for the circulation of DOBV in wild rodents and for a DOBV etiology of HFRS in Romania.

  14. Molecular-genetic risk assessement of determining angiotensin-converting enzyme hyperactivity in hemorrhagic fever with renal syndrome

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    Ildar R. Minniakhmetov

    2012-09-01

    Full Text Available The present study was designed to investigate changes in angiotensin-converting enzyme (ACE blood activity and angiotensin II type 1 receptor gene polymorphism as a possible disease predictor in hemorrhagic fever with renal syndrome (HFRS. Four hundred and nine patients (346 males and 63 females with HFRS serologic confirmation were enrolled in the study. Their age ranged from 15 to 65 years. ACE blood activity was assessed kinetically using the Bühlmann (Switzerland kit. Peripheral blood genomic DNA was isolated by a phenol-chloroform extraction. The genotyping of DNA loci was done using a polymerase chain reaction of DNA synthesis. Statistically, ACE blood activity was significantly higher throughout the entire HFRS course with diverse severity apart from the feverish phase of moderate-to-severe uncomplicated disease forms. *A1166 and *C1166 alleles, *A1166/*A1166 and *C1166/*C1166 genotypes of angiotensin II type 1 receptor gene were not associated with HFRS severity. The results of this study indicate that high ACE activity has not adaptive characteristics due to abnormalities in angiotensin II reception. It is an adequate metabolic response of the body to endotheliotropic virus activity.

  15. Meteorological factors are associated with hemorrhagic fever with renal syndrome in Jiaonan County, China, 2006-2011

    Science.gov (United States)

    Lin, Hualiang; Zhang, Zhentang; Lu, Liang; Li, Xiujun; Liu, Qiyong

    2014-08-01

    This study examined the effect of meteorological factors on the occurrence of hemorrhagic fever with renal syndrome (HFRS) using a generalized additive model with penalized smoothing splines in Jiaonan, China, from 2006 to 2011. The dose-response relationship was first examined, and then the association between daily meteorological variables and HFRS occurrence was investigated according to the dose-response curves. There were two linear segments in the temperature-HFRS relationship curve. When daily temperature was lower than 17 °C, a positive association was found [with excessive risk (ER) for 1 °C increase on the current day being 2.56 %, 95 % confidence interval (CI): 0.36 % to 4.80 %]. An inverse association was found when daily temperature was higher than 17 °C [ER for 1 °C increase on the current day was -12.82 % (95 % CI: -17.51 % to -7.85 %)]. Inverse associations were observed for relative humidity [ER for 1 % increase on lag day 4 was -1.21 % (95 % CI: -1.63 % to -0.79 %)] and rainfall [ER for 1 mm increase on lag day 1 was -2.20 % (95 % CI: -3.56 % to -0.82 %)]. Meteorological factors might be important predictor of HFRS epidemics in Jiaonan County.

  16. Hemorrhagic Fever with Renal Syndrome in the New, and Hantavirus Pulmonary Syndrome in the Old World: paradi(se)gm lost or regained?

    Science.gov (United States)

    Clement, Jan; Maes, Piet; Van Ranst, Marc

    2014-07-17

    Since the first clinical description in 1994 of the so-called "Hantavirus Pulmonary Syndrome" (HPS) as a "newly recognized disease", hantavirus infections have always been characterized as presenting in two distinct syndromes, the so-called "Hemorrhagic Fever with Renal Syndrome" (HFRS) in the Old World, with the kidney as main target organ, in contrast to HPS in the New World, with the lung as main target organ. However, European literature mentions already since 1934 a mostly milder local HFRS form, aptly named "nephropathia epidemica" (NE), and caused by the prototype European hantavirus species Puumala virus (PUUV). Several NE reports dating from the 1980s and early 1990s described already non-cardiogenic HPS-like lung involvement, prior to any kidney involvement, and increasing evidence is now mounting that a considerable clinical overlap exists between HPS and HFRS. Moreover, growing immunologic insights point to common pathologic mechanisms, leading to capillary hyperpermeability, the cardinal feature of all hantavirus infections, both of the New and Old World. It is now perhaps time to reconsider the paradigm of two "different" syndromes caused by viruses of the same Hantavirus genus in the same Bunyaviridae family, and to agree on a common, more logical disease denomination, such as simply and briefly "Hantavirus fever".

  17. Detection of Hantavirus gene from peripheral blood of patients with HFRS in Heilongjiang province and the epidemiological significance

    Institute of Scientific and Technical Information of China (English)

    HUAN YONG CHEN; LING LAN ZENG; XIN ZHANG; HONG QI JIANG; FENG JUAN SHAO; QING GANG LI; BAO LING LU; LIN LI

    2006-01-01

    The aim of this study is to further understand the genotype of Hantavirus (HV) from peripheral blood of patients with hemorrhagic fever with renal syndrome (HFRS) and the epidemiological significance of this disease in Heilongjiang province in recent years. Thirty-one serum samples of clinically diagnosed patients with HFRS were examined by RT-PCR to decide the genetic subtype. On the basis of infection season, the serum samples were divided into two groups: winter (Nov, 2003-Feb, 2004), spring and summer (April, 2004-Sep, 2004). Further analysis was performed in combination with clinical symptoms. It was found that among the total 31 samples, 22 were sero-positive. Among 14 serum samples in winter, 8 were sero-positive, of which 5 cases were of type Ⅰ (Hantaan virus, HTNV) and 3 of type Ⅱ (Seoul virus, SEOV). Among 17 samples in spring and summer, 14 were sero-positive, of which 5cases were of type Ⅰ and 9 of type Ⅱ. So it concludes that both of the two types of Hantavirus exist in Heilongjiang. The type Ⅰ is the main pathogen of HFRS in winter, and type Ⅱ is the main in spring and summer.

  18. Renal involvement in antiphospholipid syndrome.

    Science.gov (United States)

    Pons-Estel, Guillermo J; Cervera, Ricard

    2014-02-01

    Renal involvement can be a serious problem for patients with antiphospholipid syndrome (APS). However, this complication has been poorly recognized and studied. It can be present in patients who have either primary or systemic lupus erythematosus-associated APS. Clinical and laboratory features of renal involvement in APS include hypertension, hematuria, acute renal failure, and progressive chronic renal insufficiency with mild levels of proteinuria that can progress to nephrotic-range proteinuria. The main lesions are renal artery stenosis, venous renal thrombosis, and glomerular lesions (APS nephropathy) that may be acute (thrombotic microangiopathy) and/or chronic (arteriosclerosis, arterial fibrous intimal hyperplasia, tubular thyroidization, arteriolar occlusions, and focal cortical atrophy). APS can also cause end-stage renal disease and allograft vascular thrombosis. This article reviews the range of renal abnormalities associated with APS, and their diagnosis and treatment options.

  19. 126例小儿肾综合征出血热临床分析%Clinical analysis of 126 children with hemorrhagic fever with renal syndrome

    Institute of Scientific and Technical Information of China (English)

    吴翠萍; 李汝勇; 郄良毅; 夏德全

    2003-01-01

    @@ 我院自1991年1月~2001年12月共收治肾综合征出血热(Hemorrhagic Fever with Renal Syndrome, HFRS)患者2 536例,其中14岁以下患儿126例,我们对其临床资料进行回顾性分析,以探讨小儿HFRS临床特点,供临床医师借鉴.

  20. DETERMINATION OF URINE TUMOR NECROSIS FACTOR, IL-6, IL-8 AND SERUM IL-6 IN PATIENTS WITH HEMORRHAGIC FEVERS WITH RENAL SYNDROME

    Institute of Scientific and Technical Information of China (English)

    Fan Wanhu; Chen Ruilin; Yue Jinsheng; Liu Zhengwen; Zhang Shulin

    2006-01-01

    Objective To explore the roles of cytokines in the pathogenesis of hemorrhagic fever with renal syndrome(HFRS). Methods Double-antibody sandwich ELISA was used to determine serum interleukin (IL)-6, urine tumor necrosis factor (TNF), IL-6 and IL-8 levels in 56 patients with HFRS. Results Serum IL-6, urine TNF, IL-6 and IL-8 concentrations in HFRS patients were significantly higher than those in control group, respectively (P<0.001). The concentrations increased at fever stage, then continued to increase during hypotension stage and peaked at oliguria stage. The concentrations of serum IL-6, urine TNF, IL-6 and IL-8 increased in accord with the severity of the disease and differed greatly among different types of the disease. Serum IL-6 had remarkable relationships with serum specific antibodies. It was positively related to serum β2-microglobulin (β2-MG), blood ureanitrogen (BUN) and creatinine (Cr). Significant positive relationships were also found both between urine IL-6 and TNF, and between IL-6 and IL-8 (r=0.5768, P<0.05; r=0.3760, P<0.01). Conclusion TNF, IL-6 and IL-8 activated during the course of the disease. IL-6 is associated with the immunopathological lesions caused by the hyperfunction of humoral immune response. IL-6, IL-8 and TNF are involved in the renal immune impairment. Determining them might, in certain extent, be used in predicting the prognosis and outcome of patients with HFRS.

  1. Strengthening of the control and prevention of hemorrhagic fever with renal sydrome(HFRS)%加强肾综合征出血热的预防控制

    Institute of Scientific and Technical Information of China (English)

    李德新

    2008-01-01

    流行性出血热(Epidemic Hemorrhagic Fever,EHF)与流行性肾病(Nephropathia Epidemica,NE)等统称肾综合征出血热(Hemorrhagic Fever with Renal Syndrome,HFRS),是由汉坦病毒引起的一种自然疫源性疾病,为《中华人民共和国传染病防治法》规定的乙类传染病,鼠类为其自然宿主和主要传染源。

  2. Enamel renal syndrome: A rare case report

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    S V Kala Vani

    2012-01-01

    Full Text Available Enamel renal syndrome is a very rare disorder associating amelogenesis imperfecta with nephrocalcinosis. It is known by various synonyms such as amelogenesis imperfecta nephrocalcinosis syndrome, MacGibbon syndrome, Lubinsky syndrome, and Lubinsky-MacGibbon syndrome. It is characterized by enamel agenesis and medullary nephrocalcinosis. This paper describes enamel renal syndrome in a female patient born in a consanguineous family.

  3. Clinical and immunological characteristics of hemorrhagic fever with renal syndrome in women of different age groups

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    Kutdusova A.M.

    2012-09-01

    Full Text Available Objective: To evaluate the clinical and immunological features of the hemorrhagic fever with renal syndrome in women of different age groups. Materials and methods: Clinical and laboratory characteristics of hemorrhagic fever with renal syndrome in 148 women aged 17 to 65 years old have been investigated. Patients have been divided into two groups: group I included 101 patients with normal menstrual rhythm, group II included 47 female patients with menopause. In 57 women (36 from group I, 21 — from group II the content of CD3+, CD4+, CD8+, CD16+, CD19+ — sub-populations of peripheral blood lymphocytes has been determined. Results: In compared groups significant differences in structure and frequency of complications of the disease have been revealed. Unidirectional tendency to increase significantly reduced absolute rates of investigated lymphocyte subpopulations in dynamics of the disease has been identified. It also has been stated that by the time of early convalescence in case of severe form of HFRS the indices did not reach the standard level. In an older group of women deeper damage and long-term recovery of immune system have been marked. Conclusion: According to the results of clinical and immunological studies the research work has revealed that in young women the response of the immune system to HFRS has developed faster and stronger than that in patients during the menopause period.

  4. Scimitar syndrome with renal agenesis

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    Hasan Kahraman

    2012-01-01

    Full Text Available Partial pulmonary venous connection anomaly is relatively uncommon form of congenital heart diseases. The quite rare combination of this anomaly with hypoplasia of the right lung and dextroposition of the heart is designated as scimitar syndrome. Most cases are presented in infantile period and adult presentation is exceedingly rare. Our patient, a 38-year-old man, was admitted to a doctor with flu-like complaint and because of abnormalities on chest X-ray he was sent to our clinic. He did not have any chronic complaints such as shortness of breath and fatigue. After investigation, scimitar syndrome was diagnosed. Left renal agenesis was determined with abdominal examination. Best of our knowledge in literature we did not detect any case both with Scimitar syndrome and renal agenesis, and we wanted to report the asymptomatic adult Scimitar syndrome case with left renal agenesis.

  5. Sustained High Levels of Both Total and High Molecular Weight Adiponectin in Plasma during the Convalescent Phase of Haemorrhagic Fever with Renal Syndrome Are Associated with Disease Severity

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    Kang Tang

    2017-01-01

    Full Text Available Haemorrhagic fever with renal syndrome (HFRS is characterised by an uncontrolled immune response that causes vascular leakage. Adiponectin (APN is an adipocytokine involved in prorevascularisation and immunomodulation. To investigate the possible effects of APN in the pathogenesis of HFRS, total and high molecular weight (HMW APN levels in the plasma of patients with HFRS were quantified using enzyme-linked immunosorbent assay (ELISA. Compared with those in healthy controls, the plasma total and HMW APN levels in patients were elevated to different degrees from the fever onset and remained high at the convalescent phase. Consistent with these results, western blot analysis additionally showed that low molecular weight (LMW, middle molecular weight (MMW, and HMW APN levels were all elevated and contributed to the elevation of the total APN level. Importantly, sustained high levels of total and HMW APN at the convalescent phase were significantly higher in patients with critical disease than those in patients with mild or moderate disease. Moreover, total and HMW APN levels negatively correlated with white blood cell count and positively correlated with platelet count and serum albumin level. These results may provide insights into understanding the roles of total and HMW APN in the pathogenesis of HFRS.

  6. Observation on the Efficiency of the Mongolian Gerbil Kidney Tissue Culture Inactivated Bivalent Vaccine for Hemorrhagic Fever with Renal Syndrome

    Institute of Scientific and Technical Information of China (English)

    董关木; 朱智勇; 安祺; 朱凤才; 刘文雪; 孔艳; 杨立宏; 俞永新

    2004-01-01

    The Z10 and Z37 strains of hemorrhagic fever with renal syndrome (HFRS) virus and the Mongolian gerbil (Merions unguiculatus ) kidney cells were used to prepare the inactivated bivalent vaccine. A phase Ⅱ clinical trial use of this vaccine was made in 750 Chinese volunteers. The results showed that the side reaction rate was 2.5% and the sero-conversion rate of neutralizing antibodies against Hantaan and Seoul viruses in the inoculated volunteers were 87.6% and 96.3% respectively.

  7. Role Of Adhesion Molecules Vcam-1 And Ve-Cadherin In Endothelium Dysfunction Development At Hemorrhagic Fever With Renal Syndrome

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    А.А. Baygildina

    2009-12-01

    Full Text Available The research goal is to determine the changes in concentration of both sVCAM-1 and VE-cadherin in blood serum of patients suffered from hemorrhagic fever with renal syndrome (HFRS. 87 patients aged 15-65 were examined. Concentrations of both sVCAM-1 and VE- cadherin in blood serum by means of "Bender MedSystems" (Austria ELISA test were determined. It was shown that in both medium severe and severe forms of HFRS statistically the significant rise of sVCAM-1 concentration in blood with high indices in oliguric period took place. Complicated form was characterized by high indices of sVCAM-1 level in fever period, extremely decreasing in concentration in oliguric period and tendency to normalizing in clinical convalescence period. VE-cadherin level in blood was predominantly lower than control in all the observed groups with the exception of fever period in group with medium severe disease form. Negative correlation of normal intensity between adhesion molecules levels in blood was revealed. In conclusion it is necessary to point out that high VCAM-1 expression by endotheliocytes evidences the development of an adhesion form of endothelial dysfunction, low VE-cadherin production in a base for development of angiogenic form of endothelial dysfunction and changes in expression of these adhesion molecules that have adaptive metabolic response to macroorganism of HFRS pathogenic action

  8. Evidence of disseminated intravascular coagulation in a hemorrhagic fever with renal syndrome-scoring models and severe illness.

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    Erik Sundberg

    Full Text Available BACKGROUND: Viral hemorrhagic fevers (VHF are considered to be a serious threat to public health worldwide with up to 100 million cases annually. The general hypothesis is that disseminated intravascular coagulation (DIC is an important part of the pathogenesis. The study objectives were to study the variability of DIC in consecutive patients with acute hemorrhagic fever with renal syndrome (HFRS, and to evaluate if different established DIC-scores can be used as a prognostic marker for a more severe illness. METHOD AND FINDINGS: In a prospective study 2006-2008, data from 106 patients with confirmed HFRS were analyzed and scored for the presence of DIC according to six different templates based on criteria from the International Society on Thrombosis and Haemostasis (ISTH. The DIC-scoring templates with a fibrinogen/CRP-ratio were most predictive, with predictions for moderate/severe illness (p<0.01 and bleeding of moderate/major importance (p<0.05. With these templates, 18.9-28.3% of the patients were diagnosed with DIC. CONCLUSIONS: DIC was found in about one fourth of the patients and correlated with a more severe disease. This supports that DIC is an important part of the pathogenesis in HFRS. ISTH-scores including fibrinogen/CRP-ratio outperform models without. The high negative predictive value could be a valuable tool for the clinician. We also believe that our findings could be relevant for other VHFs.

  9. Renal involvement in antiphospholipid syndrome.

    Science.gov (United States)

    Sciascia, Savino; Cuadrado, Maria José; Khamashta, Munther; Roccatello, Dario

    2014-05-01

    Antiphospholipid syndrome (APS) is an autoimmune disease defined by the presence of arterial or venous thrombotic events and/or pregnancy morbidity in patients who test positive for antiphospholipid antibodies (aPLs). APS can be isolated (known as primary APS) or associated with other autoimmune diseases, such as systemic lupus erythematosus (SLE; known as secondary APS). The kidney is a major target organ in APS and renal thrombosis can occur at any level within the vasculature of the kidney (renal arteries, intrarenal arteries, glomerular capillaries and renal veins); events reflect the site and size of the involved vessels. Histological findings vary widely, including ischaemic glomeruli and thrombotic lesions without glomerular or arterial immune deposits on immunofluorescence. Renal prognosis is affected by the presence of aPLs in patients with lupus nephritis and can be poor. In patients with SLE and aPLs, biopsy should be performed because inflammatory and thrombotic lesions require different therapeutic approaches. Renal involvement in patients with definite APS is treated by anticoagulation with long-term warfarin. The range of renal manifestations associated with APS is broadening and, therefore, aPLs have increasing relevance in end-stage renal disease, transplantation and pregnancy.

  10. Study on the Cytotoxic T Lymphocytes Clone Specific for the Nucleocapsid Protein of Hantaan Virus from Peripheral Blood in Patients with Hemorrhagic Fever with Renal Syndrome

    Institute of Scientific and Technical Information of China (English)

    潘蕾; 白雪帆; 黄长形; 李光玉

    2003-01-01

    In order to elucidate the molecular and immunological mechanisms as well as the pathogenesis of hemorrhagic fever with renal syndrome (HFRS), the CD8+ cytotoxic T lymphecytes (CTL) clone was established directly from peripheral blood mononuclear cells (PBMC) of patients with HFRS. The activities of CTL were detected as usual with EBV-transformed lymphoblastoid cell line (BLCL) as target cells. The results showed that the CTL clone could recognized and killed the targetcells with specificity of nucleocapsid protein of Hantaan virus (HTNVNP) with the cytotoxicity percentages of 50.2%,25.4% and 39.0% respectively. These results demonstrated that the antigenic epitopes of HTNVNP mainly located on the C-temainal of the viral nucleocapsid protein.

  11. Hemorrhagic fever with renal syndrome during pregnancy: Case report

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    Todorović Zoran

    2010-01-01

    Full Text Available Introduction Hemorrhagic fever with renal syndrome (HFWRS is an acute infectious disease with abrupt onset, high fever, renal failure and frequent hemorrhages. HFWRS during the pregnancy has relatively low occurrence, with only few described cases mostly in the region of the former Soviet Union. Although, according to the data from the literature, the disease is less severe during the pregnancy, the eclampsy, stillbirth and fetal infection were also described. Material and methods During the summer period, June-September 2002 in the area of nort-heast Montenegro, and mainly among people whose job was connected with rural areas, the HFRS was observed more frequently. In that area during the stated period , 12 patients underwent treatment whose disease was confirmed by the I I F method at the Torlak Institute of Virology in Belgrade. Among the patients there were two pregnant women aged 23 and 29 (both in their second pregnancies, in the 23rd and 26th gestational week, respectively. The aim of this study is to present 2 case studies and to show the disease impact on fetal development. Results The patients aged 23 and 29 yrs, were previously healthy women in their second pregnancies (23rd and 26th gestational week, respectively. The disease had typical beginning. The predictions made according to the laboratory abnormalities and the level of oliguria were that the disease would have a less severe course. Hemorrhagic syndrome was less prominent, and the laboratory analyses were normalized after 15 to 18 days. The monitoring of pregnancy during the disease period and after recovering showed no fetal suffering. The patients had PV delivery, in 39-th an 40-th, respectively. The newborns blood testing on Hantan viruses was done by ELISA method in Torlak Institute, Belgrade. Only the IgG antibodies (1/ 512, were detected, the IgM antibodies were not found. Two years later the tests were repeated, and showed negative results.

  12. RENAL FUNCTION DERANGEMENT IN HELLP SYNDROME

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    Anusha Harihara Gopalan

    2017-04-01

    Full Text Available BACKGROUND HELLP is the acronym for haemolysis, elevated liver enzymes and low platelet count. HELLP syndrome is a form of severe preeclampsia with an incidence of 0.2-0.6% of all pregnancies. The aim of our study is to evaluate the trend of renal dysfunction in HELLP syndrome patients. MATERIALS AND METHODS This is a cross-sectional observational study conducted in Department of Obstetrics and Gynaecology, Institute of Maternal and Child Health, Government Medical College, Kozhikode, during the period of 12 months from January 2013 to December 2013. All patients with HELLP syndrome were included in the study and their renal function tests monitored. RESULTS Results were renal dysfunction prevalence in HELLP syndrome patients is 77%. The renal impairment recovered by 6 days on an average. All had normal renal function tests at the time of discharge. Patients with renal function derangement had a mean duration of hospital stay and transfusion requirements more than the patients without renal function derangement, which was statistically significant (p value 0.036. Haemodialysis required for one out of 60 patients. One maternal mortality due to acute renal failure. CONCLUSION As the prevalence of renal dysfunction is high, some amount of renal impairment maybe a part of the HELLP syndrome disease spectrum itself. Though the incidence of progression to acute renal failure and dialysis is less, this is the important cause of morbidity and mortality in HELLP syndrome patients.

  13. Interferon-Induced Transmembrane Protein 3 Inhibits Hantaan Virus Infection, and Its Single Nucleotide Polymorphism rs12252 Influences the Severity of Hemorrhagic Fever with Renal Syndrome

    Science.gov (United States)

    Xu-yang, Zheng; Pei-yu, Bian; Chuan-tao, Ye; Wei, Ye; Hong-wei, Ma; Kang, Tang; Chun-mei, Zhang; Ying-feng, Lei; Xin, Wei; Ping-zhong, Wang; Chang-xing, Huang; Xue-fan, Bai; Ying, Zhang; Zhan-sheng, Jia

    2017-01-01

    Hantaan virus (HTNV) causes hemorrhagic fever with renal syndrome (HFRS). Previous studies have identified interferon-induced transmembrane proteins (IFITMs) as an interferon-stimulated gene family. However, the role of IFITMs in HTNV infection is unclear. In this study, we observed that IFITM3 single nucleotide polymorphisms (SNP) rs12252 C allele and CC genotype associated with the disease severity and HTNV load in the plasma of HFRS patients. In vitro experiments showed that the truncated protein produced by the rs12252 C allele exhibited an impaired anti-HTNV activity. We also proved that IFITM3 was able to inhibit HTNV infection in both HUVEC and A549 cells by overexpression and RNAi assays, likely via a mechanism of inhibiting virus entry demonstrated by binding and entry assay. Localization of IFITM3 in late endosomes was also observed. In addition, we demonstrated that the transcription of IFITM3 is negatively regulated by an lncRNA negative regulator of interferon response (NRIR). Taken together, we conclude that IFITM3, negatively regulated by NRIR, inhibits HTNV infection, and its SNP rs12252 correlates with the plasma HTNV load and the disease severity of patients with HFRS. PMID:28096800

  14. Investigation of Leptotrombidium scutellare-hemorrhagic fever with renal syndrome vector%对肾综合征出血热传播媒介小盾纤恙螨的研究

    Institute of Scientific and Technical Information of China (English)

    钱俊英; 邓小昭; 张云

    2009-01-01

    Objective Explore the role of chigger mite in the transmission of hemorrhagic fever with renal syndrome (HFRS). Methods Chigger mites were collected from rata caught in the plague loci. HV was detected by Vero-E6 culture and IFA. HV-RNA from mites was teated by RT-PCR, and HV was located by hybridization histochemistry. Results The infection rate of HV was 66.7% in chigger mites collected from rats which antigens were positive, however it was only 25.0% in mites from rats which antigens were negative. The result showed that chigger mite could transmit HFRS by stinging and vertical transmission.Conclusion It indicates that chigger mite is one of HFRS vectors, which roles in HFRS transmission can not be neglected.%目的 探索小盾纤恙螨在肾综合征出血热(HFRS)传播中的作用及传播疾病的关系.方法 在疫区捕获野鼠,采集小盾纤恙螨,用Vero-E6细胞组织培养及间接免疫荧光法(IFA)检测汉坦病毒(HV)感染情况,并用RT-PCR检测螨体内HV-RNA,观察螨体内HV增殖,原位RT-PCR分子杂交法进行螨体内HV定位.结果 IFA检测HV抗原阳性鼠寄生小盾纤恙螨HV自然感染率为66.7%,IFA检测阴性鼠寄生螨HV自然感染率为25.0%;该螨通过叮刺和经卵传播HV.结论 小盾纤恙螨为野鼠型HFRS主要传播媒介之一,在传播HFRS中的作用不容忽视.

  15. [Hereditary cerebro-oculo-renal syndromes].

    Science.gov (United States)

    Sessa, Galina; Hjortshøj, Tina Duelund; Egfjord, Martin

    2014-02-17

    Although many congenital diseases present disturbances of the central nervous system, eyes and renal function, only few of these have a defined genetic basis. The first clinical features of cerebro-oculo-renal diseases usually develop in early childhood and deterioration of kidney function and even end-stage kidney disease may occur in a young age. The syndromes should be considered in patients with retarded growth and development, central nervous system abnormalities, impaired vision or blindness and progressive renal failure.

  16. Dynamics of hormonal status in women of different age groups in hemorrhagic fever with renal syndrome

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    Murzabaeva R.Т.

    2012-06-01

    Full Text Available Objective: To study the hormonal parameters in women of different age groups in hemorrhagic fever with renal syndrome. Materials and methods: We have studied the content of cortisol, thyrotropic hormone (TTH, triiodothyro-nine (T3, free thyroxin (FT4, luteinizing hormone (LH, follicle-stimulating hormone (FSH, testosterone, estradiol, progesterone, prolactin in blood serum of 62 women with moderate (33 and severe (29 HFRS forms age (17-62. They were divided into 2 groups: the first group (33 patients women with the normal menstrual cycle, the second group (29 women consisted of patients in climacteric period. Results: TTH secretion increase, T3 and FT4 — decrease with their normalization to the recovery period were registered in the thyroid system of the compared groups. Blood cortisol level was high during the illness. Gonadotropic hypophysis function study demonstrated that LH and blood prolactin concentrations were increased since oliguria period; FSH was authentic reduced. The indices of these hormones were restored to the normal level by the reconvalescence period. LH and FSH contents were authentic higher in women of the second group in comparison with the first group. The hyperprolactinemia was observed in both women groups during the whole period of disease. The increased progesterone and testosterone concentrations have been manifested in blood serum. The estradiol concentration had different direction tendencies. Conclusion: Thus, the complex study of hypophysic- thyreoid and gonadotropic hormone state of adrenal system and the sexual hormone levels in women of different age groups in HFRS revealed the hormone status indces changes due to the period and severity of the disease, connected with the virus action, intoxication, the general inflammation reactions and their age.

  17. Renal involvement in primary antiphospholipid syndrome.

    Science.gov (United States)

    Marcantoni, Carmelita; Emmanuele, Carmela; Scolari, Francesco

    2016-08-01

    Antiphospholipid syndrome is an autoimmune disorder characterized by recurrent venous or arterial thrombosis and/or pregnancy-related problems associated with persistently elevated levels of antiphospholipid antibodies. The kidney is a major target organ in both primary and secondary antiphospholipid syndrome. This review describes several aspects of the renal involvement in the primary form of the syndrome, in particular the histological pattern of the so-called antiphospholipid syndrome nephropathy (APSN). APSN is a vascular nephropathy characterized by small vessel vaso-occlusive lesions associated with fibrous intimal hyperplasia of interlobular arteries, recanalizing thrombi in arteries and arterioles, and focal atrophy, a constellation of morphological lesions suggestive of primary antiphospholipid syndrome.

  18. Acute renal failure in neuroleptic malignant syndrome.

    Science.gov (United States)

    Nishioka, Yoshiaki; Miyazaki, Masanobu; Kubo, Susumu; Ozono, Yoshiyuki; Harada, Takashi; Kohno, Shigeru

    2002-07-01

    We report a patient with neuroleptic malignant syndrome (NMS) who developed acute renal failure and was successfully treated by hemodialysis. A 60-year-old man with a 26-year history of schizophrenia had been treated with thioridazine and sulpiride. He was admitted to our hospital for muscular rigidity and oliguria. After the diagnosis of NMS with acute renal failure was established, thioridazine and sulpiride were discontinued and hemodialysis was instituted. Renal function gradually improved and hemodialysis was discontinued after 17th treatment. We also reviewed 57 cases of NMS with acute renal failure reported in the literature. To our knowledge, 26 years is the longest latency between initiation of neuroleptic drug treatment and onset of NMS. Our review of reported NMS cases with acute renal failure identified those risks for poor prognosis as high level of BUN, age and female gender.

  19. Metabolic Syndrome and Outcomes after Renal Intervention

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    Daynene Vykoukal

    2011-01-01

    Full Text Available Metabolic syndrome significantly increases the risk for cardiovascular disease and chronic kidney disease. The increased risk for cardiovascular diseases can partly be caused by a prothrombotic state that exists because of abdominal obesity. Multiple observational studies have consistently shown that increased body mass index as well as insulin resistance and increased fasting insulin levels is associated with chronic kidney disease, even after adjustment for related disorders. Metabolic syndrome appears to be a risk factor for chronic kidney disease, likely due to the combination of dysglycemia and high blood pressure. Metabolic syndrome is associated with markedly reduced renal clinical benefit and increased progression to hemodialysis following endovascular intervention for atherosclerotic renal artery stenosis. Metabolic syndrome is associated with inferior early outcomes for dialysis access procedures.

  20. Metabolic syndrome and outcomes after renal intervention.

    Science.gov (United States)

    Vykoukal, Daynene; Davies, Mark G

    2010-12-27

    Metabolic syndrome significantly increases the risk for cardiovascular disease and chronic kidney disease. The increased risk for cardiovascular diseases can partly be caused by a prothrombotic state that exists because of abdominal obesity. Multiple observational studies have consistently shown that increased body mass index as well as insulin resistance and increased fasting insulin levels is associated with chronic kidney disease, even after adjustment for related disorders. Metabolic syndrome appears to be a risk factor for chronic kidney disease, likely due to the combination of dysglycemia and high blood pressure. Metabolic syndrome is associated with markedly reduced renal clinical benefit and increased progression to hemodialysis following endovascular intervention for atherosclerotic renal artery stenosis. Metabolic syndrome is associated with inferior early outcomes for dialysis access procedures.

  1. Saethre-Chotzen syndrome presenting with incomplete renal Fanconi syndrome.

    Science.gov (United States)

    Oktenli, Cagatay; Saglam, Mutlu; Zafer, Emre; Gül, Davut

    2002-10-01

    Here we report on a patient with findings of acrocephaly, craniosynostosis, low frontal hairline, ptosis of eyelids, deviated nasal septum, broad great toes, moderate hallux valgus, bilateral symmetrical complete soft tissue syndactyly of toes 2 and 3, and partial soft tissue syndactyly of toes 4 and 5 consistent with the diagnosis of Saethre-Chotzen syndrome. Additionally, the patient had some unusual findings as part of generalized dysfunction of the renal tubules including hypophosphatemia with renal phosphate wasting, normocalcemic hypercalciuria, hypomagnesemia with renal magnesium wasting, low-molecular-weight proteinuria, decreased serum PTH levels, osteopenia, and nephrolithiasis. In the light of these findings, the diagnosis of incomplete renal Fanconi syndrome was made. In conclusion, on the basis of the present findings, it is difficult to say whether renal tubular dysfunction are somehow connected to the Saethre-Chotzen syndrome or not. Therefore, we consider that this is probably just a coincident. However, further studies may show the connection between renal tubular dysfunction and Saethre-Chotzen syndrome.

  2. Renal abnormalities in patients with Kallmann syndrome.

    Science.gov (United States)

    Zenteno, J C; Méndez, J P; Maya-Núñez, G; Ulloa-Aguirre, A; Kofman-Alfaro, S

    1999-03-01

    To report experience in patients with Kallmann syndrome (KS) in whom urography was used to establish the type and frequency of renal anomalies associated with the disorder. Of 19 patients with KS, 15 had the X-linked recessive form of the disease, whereas the remaining four were sporadic. Each patient underwent intravenous pyelography (IVP) using a non-ionic, low osmolarity contrast medium. Of the 19 patients with KS, 10 had kidney abnormalities; four presented with unilateral renal agenesis and six had less severe forms of renal abnormality (renal malrotation in four and bilateral dilatation of the calyces and pelves in two). One of the patients with unilateral renal agenesis carried a deletion in KAL, the gene responsible for the X-linked type of KS. Three of the four patients with renal malrotation had a confirmed X-linked recessive form and one carried a point mutation in KAL. These results suggest that kidney abnormalities are more frequent and diverse in patients with KS than previously reported. They also indicate that defects in the KAL gene may contribute to abnormal renal development. However, a review of the literature revealed no close correlation between KAL mutations and kidney anomalies in the X-linked type of disease. Taken together, these data suggest that KAL mutations are not invariably associated with failure of renal development and that additional factors (epigenetic or local) may compensate for defects in the KAL protein.

  3. Nutcracker Syndrome Complicated by Left Renal Vein Thrombosis

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    Faouzi Mallat

    2013-01-01

    Full Text Available Isolated renal vein thrombosis is a rare entity. We present a patient whose complaint of flank pain led to the diagnosis of a renal vein thrombosis. In this case, abdominal computed tomography angiography was helpful in diagnosing the nutcracker syndrome complicated by the renal vein thrombosis. Anticoagulation was started and three weeks later, CTA showed complete disappearance of the renal vein thrombosis. To treat the Nutcracker syndrome, we proposed left renal vein transposition that the patient consented to.

  4. Nutcracker syndrome complicated by left renal vein thrombosis.

    Science.gov (United States)

    Mallat, Faouzi; Hmida, Wissem; Jaidane, Mehdi; Mama, Nadia; Mosbah, Faouzi

    2013-01-01

    Isolated renal vein thrombosis is a rare entity. We present a patient whose complaint of flank pain led to the diagnosis of a renal vein thrombosis. In this case, abdominal computed tomography angiography was helpful in diagnosing the nutcracker syndrome complicated by the renal vein thrombosis. Anticoagulation was started and three weeks later, CTA showed complete disappearance of the renal vein thrombosis. To treat the Nutcracker syndrome, we proposed left renal vein transposition that the patient consented to.

  5. The cardio-renal anemia syndrome

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    Dimković Siniša

    2007-01-01

    Full Text Available Introduction. The problem of anemia in congestive heart failure and chronic kidney disease was thought to be insignificant for a long period of time. Recent investigations pointed out that the problem of anemia should be defined in the context of the cardio-renal anemia syndrome. A positive feedback mechanism indicates that cardio-renal anemia syndrome is due to an interaction between congestive heart failure, chronic renal failure and anemia. The aim of the study was to present the possible pathophysiological mechanisms of this syndrome, epidemiological characteristics and therapeutic results of the former investigations. Results. The results of the retrospective and prospective controlled trails have shown that management of anemia with subcutaneous administration of recombinant human erythropoietin together with intravenous iron infusion for at least 3-6 months lead to: relief of symptoms (improved NYHA functional class; increased left ventricular ejection fraction; reduced cardiovascular morbidity and mortality; reduced number of rehospitalizations; reduced requirements for usual therapeutic agents (especially diuretics; and improved renal function. Conclusion. In patients with heart and kidney disease anemia should be routinely identified and appropriately treated. Subcutaneous recombinant erythropoietin and intravenous iron may significantly improve overall survival and quality of life of these patients. .

  6. 肾综合征出血热和汉坦病毒肺综合征研究进展%Hantavirus pulmonary syndrome and hemorrhagic fever with renal syndrome

    Institute of Scientific and Technical Information of China (English)

    白雪帆; 王平忠

    2011-01-01

    肾综合征出血热(hemorrhagic fever with renal syndrome,HFRS)和汉坦病毒肺综合征(hantavirus pulmonary syndrome,HPS)均是由汉坦病毒属病毒(hantaviruses)引起的急性传染病.HFRS的病原体——汉滩病毒(Hantaan virus,HTNV)、汉城病毒(SEOV)、普马拉病毒(PUUV)和多布拉伐病毒(DOBV)等主要分布于有着几千年文明历史的欧亚大陆,国际上称为旧世界汉坦病毒(hantavirus in old world);

  7. Investigation of Crimean-Congo Hemorrhagic Fever and Hemorrhagic Fever with Renal Syndrome in Greece

    Science.gov (United States)

    1988-10-12

    nasal bleeding, hematuria and gross gastrointestinal bleeding. K-- F -6- Up todate 41 HFRS cases have been serologically diagnosed in Greece. The...CCHF in Greece up until April 1987, was discussed and the conclusions drawn are reported. 4 pA. : -3- B. HORAGIC FEVER WITH RENAL SYNDROKE (HilS) B1...level. Two house rats (Rattus rattus) captured in a slaughter house in Thessaloniki were found to be seropositive (Table 2). _ _ I -9-. Todate

  8. [Acute renal failure in neuroleptic malignant syndrome].

    Science.gov (United States)

    Wagner, G; Rónai, L

    1995-10-01

    The neuroleptic malignant syndrome is characterized by hyperpyrexia, muscle rigidity, extrapyramidal motion disorder, vegetative symptoms and mental disorientation. This group of symptoms develops abruptly and may lead to serious complications. One of these complications is the acute renal failure. Permanent muscle rigidity causes the damage of muscle cells which result in myoglobinaemia, myoglobinuria and elevations in muscle related creatine phosphokinase. The authors report the case of a young man who underwent neuroleptic medication because of hebephrenia. During the medication the following symptoms were developed: extrapyramidal symptoms, restlessness, muscle rigidity, high fever. These symptoms eventually lead to acute renal failure caused by rhabdomyolysis (characteristic urine finding, significant elevations in serum creatine phosphokinase). With regards to the neuroleptic malignant syndrome dantrolenum and bromocriptin treatment were applied with the discontinuation of neuroleptic medication. As a part of the complex therapy a massive volumen-supplementing and alkalizing treatment was used but haemodialysis had also become necessary. During the above mentioned treatment symptoms referring to the neuroleptic malignant syndrome resolved and the acute renal failure was cured. The case report calls attention to a specific group of symptoms and the possibilities for prevention and treatment. The above case report is the first observation in Hungary.

  9. Epidemiological analysis of hemorrhagic fever with renal syndrome in Chaoyang from 1999 to 2009%1999-2009年朝阳市肾综合征出血热流行因素分析

    Institute of Scientific and Technical Information of China (English)

    陈秋岚; 付也平; 邓卓; 皮振谦

    2011-01-01

    目的 对朝阳市1999-2009年肾综合征出血热(HFRS)发病趋势与流行因素进行分析,探讨其是否存在因果关系,为进一步掌握朝阳市HFRS的流行规律、指导防制提供可供借鉴的依据.方法 将1999-2009年朝阳市HFRS发病资料分别按年龄、性别、职业、季节、年降雨量、朝阳市主要农产品高粱、玉米、谷子的年产量进行归类和运用统计软件进行相关分析.结果 朝阳市10年来HFRS流行特点,年龄分布男性占发病总数的75.48%(782/1036),20~50岁年龄组人群占发病总数的79.92%(828/1036),农民发病构成比为71.72%(743/1036),揭示出朝阳市HFRS发病以男性、20~50岁年龄组、农民为高发人群;春季为高发季节;生境因素中年降雨量的变化对HFRS疫情的波动影响不大(r=0.182,P=0.593);生物因素中HFRS发病趋势与谷子年产量相关(r=0.694,P=0.018),与高梁(r=0.475,P=0.140)、玉米(r=0.481,P=0.134)年产量不相关.结论 朝阳市HFRS疫情的三间分布符合家鼠型HFRS的流行病学特征;谷子年产量与HFRS疫情波动呈正相关,与高粱、玉米年产量不相关;为做好HFRS的防控工作提供启示.%Objective To analyze prevalence trends and epidemiological factors of hemorrhagic fever with renal syndrome (HFRS) in Chaoyang city from 1999 to 2009, in order to clarify causal correlations, better understand the epidemiology of the disease and improve prevention and control measures. Methods Statistical analyses were performed based on the HFRS data stratified by age, sex, occupation, season, annual rainfall amount, and annual output of major agricultural products (sorghum, corn and millet) in Chaoyang from 1999 to 2009. Results During the past decade, male patients accounted for 75.48% (782/1036) of the total number of HFRS patients; patients aged 20 to 50 years accounted for 79.92% (828/1036) and farmers accounted for 71.72% (743/1036). These results indicate that males, aged 20 to 50 years old

  10. Branchio-oto-renal syndrome with obstructive sleep apnoea.

    Science.gov (United States)

    Chavan, Arjun; Shastri, Aravind R T; Ross-Russell, Robert I

    2012-08-13

    Branchio-oto-renal (BOR) syndrome is a rare autosomal dominant disorder characterised by branchial arch anomalies, otological and renal abnormalities. To the best of our knowledge, upper airway obstruction has not been hitherto reported in BOR. The authors report a 19-month-old girl with BOR syndrome with features of severe airway obstruction needing tracheostomy.

  11. A Challenging Twist in Pulmonary Renal Syndrome

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    Rajaie Namas

    2014-01-01

    Full Text Available Case. We report a rare case of hydralazine-induced anti-neutrophil cytoplasmic antibody-associated vasculitis. A 75-year-old African American woman with history of high blood pressure on hydralazine for 3 years presented with acute onset of shortness of breath and hemoptysis. Lab workup revealed a severe normocytic anemia and a serum creatinine of 5.09 mg/dL (baseline 0.9. Bronchoscopy demonstrated active pulmonary hemorrhage. A urine sample revealed red cell casts and a renal biopsy demonstrated pauci-immune, focally necrotizing glomerulonephritis with small crescents consistent with possible anti-neutrophil cytoplasmic antibody-positive renal vasculitis. Serologies showed high-titer MPO-ANCA and high-titer anti-histone antibodies. She was treated with intravenous steroids and subsequently with immunosuppression after cessation of hydralazine. The patient was subsequently discharged from hospital after a rapid clinical improvement. Conclusion. Hydralazine-induced anti-neutrophil cytoplasmic antibody-positive renal vasculitis is a rare adverse effect and can present as a severe vasculitic syndrome with multiple organ involvement. Features of this association include the presence of high titer of anti-myeloperoxidase anti-neutrophil cytoplasmic antibody with multiantigenicity, positive anti-histone antibodies, and the lack of immunoglobulin and complement deposition. Prompt cessation of hydralazine may be sufficient to reverse disease activity but immunosuppression may be needed.

  12. Pulmonary Renal Syndrome After Streptococcal Pharyngitis

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    Gopi Mara-Koosham PhD

    2016-04-01

    Full Text Available Pulmonary renal syndrome is a class of small vessel vasculitides that are characterized by the dual presentation of diffuse alveolar hemorrhage (DAH and glomerulonephritis. Pulmonary renal syndrome has multiple etiologies, but its development has been rarely reported following infection with group A streptococcus. We present the case of a 36-year-old Native American male who was transferred to our facility due to refractory hypoxic respiratory failure. He had been diagnosed with streptococcal pharyngitis 2 weeks prior to admission. Given the presence of hemoptysis, bronchoscopy was performed and was consistent with DAH. Urinalysis demonstrated hematuria and proteinuria, in the setting of elevated creatinine and blood urea nitrogen. Additionally, antistreptolysin O titer was positive. Given the constellation of laboratory findings and history of streptococcal pharyngitis, the patient was diagnosed with PRS secondary to streptococcal infection. High-dose methylprednisolone was initiated with concomitant plasmapheresis. He was extubated successfully after his respiratory status improved and was eventually discharged home after making a full recovery within 2 weeks after admission. This case illustrates the importance of clinically relevant sequelae of streptococcal infection as well as the appropriate treatment of PRS secondary to streptococcal pharyngitis with plasmapheresis and intravenous corticosteroids.

  13. [Treatment of renal vein thrombosis associated with nephrotic syndrome].

    Science.gov (United States)

    Funami, M; Takaba, T; Tanaka, H; Murakami, A; Kadokura, M; Hori, G; Ishii, J

    1988-06-01

    Renal vein thrombosis is a rare entity in which true incidence is unknown. The disease occurs most frequently in patients with nephrotic syndrome, but it also can occur in the presence of other hypercoagulable state. Two cases of renal vein thrombosis with nephrotic syndrome which were treated by thrombectomy are reported here. One patient was successfully treated by renal vein and inferior vena cava thrombectomy before developing severe pulmonary embolism. The other was treated by renal vein thrombectomy by which fatal shock was able to be prevented. In those cases, immediate operation was indicated, primarily to prevent additional, possibly fatal, pulmonary embolism and also to improve perfusion of the kidney. In the hope of salvaging the kidney, thrombectomy may be the treatment of choice for acute renal vein thrombosis, complication of pulmonary embolism and inferior vena cava thrombosis, right renal vein thrombosis without collateral flow and acute renal vein thrombosis with shock.

  14. Effect of Renal Transplantation in Restless Legs Syndrome.

    Science.gov (United States)

    Kahvecioglu, Serdar; Yildiz, Demet; Buyukkoyuncu, Nilufer; Celik, Huseyin; Tufan, Fatih; Kılıç, Ahmet Kasım; Gul, Bulent; Yildiz, Abdulmecid

    2016-02-01

    Restless legs syndrome is a disorder in which patients have irresistible urge to move legs during rest. Restless legs syndrome seems to be common in end-stage renal disease. After a successful renal transplant, symptoms ameliorate with renal function improvement and restless legs syndrome is seen less in this population. Here, we aimed to investigate restless legs syndrome frequency and associated factors in renal transplant patients. In a cross-sectional study with 193 patients (116 hemodialysis patients, 45 transplant patients, and 32 controls), the presence of restless legs syndrome was assessed using the Restless Legs Syndrome Questionnaire. Medical history, demographic, and laboratory data were collected from the patients' medical records. Patients were questioned about the presence of restless legs syndrome using the Restless Legs Syndrome Questionnaire. Patients were evaluated with Beck Depression Scale for depression and Pittsburgh tests for sleep disturbances. While the rate of restless legs syndrome was similar between transplants and controls, it was significantly greater in hemodialysis patients. Hemodialysis patients and controls had similar depression scores that were higher compared with transplant patients. Pittsburgh score was similar in transplant patients and controls and significantly increased in the hemodialysis patients. The rate of insomnia was significantly higher in the hemodialysis patients compared with the other 2 groups. Logistic regression analysis revealed independent correlates of restless legs syndrome as insomnia, Beck depression score, and being on hemodialysis. Linear regression analysis showed that independent correlates of higher Pittsburgh score were higher depression score, higher age, and presence of restless legs syndrome. The prevalence of restless legs syndrome is significantly lower in transplant patients than it is in patients on maintenance dialysis. In renal transplant patients, restless legs syndrome frequency was

  15. A Retrospective Study of Continuous Renal Therapy and Anticoagulation in Patients with Hemorrhagic Fever with Renal Syndrome

    Institute of Scientific and Technical Information of China (English)

    2014-01-01

    Objective To observe the application of continuous renal replacement therapy(CRRT) and heparin anticoagulation in patients with HFRS, and to explore a more suitable anticoagulant strategy. MethodsEighty-five severe-type patients (severe group) and 71 critical-type patients (critical group) were enrolled in this study. The frequency of CRRT was compared between the two groups; the frequency of CRRT treated with and without heparin anticoagulation and the frequency of hemorrhage and channel blood clotting induced by the two anticoagulant strategies were observed. ResultsThe frequency of CRRT in the critical group was higher than thatin the severe group (P<0.001). The frequency of CRRT initiated during the overlapping phases in the critical group was signiifcantly higher than that of the severe group (P=0.032). The total times of CRRT was 103, and 70 of them were treated with heparin anticoagulation. The frequencies of hemorrhage induced by heparin anticoagulation and no heparinization were 16 and 0, respectively, and the frequencies of channel blood clotting were 2 and 4, respectively. Conclusions CRRT has been used extensively in the critical-type patients with HFRS. The heparin anticoagulation and no anticoagulant strategies should be used more rationally in patients treated with CRRT, according to the clinical characteristics of the disease.

  16. 肾综合征出血热发病机制的研究现状%Development in Pathogenesis of Hemorrhagic Fever with Renal Syndrome

    Institute of Scientific and Technical Information of China (English)

    邹默; 邓璐; 张赫男

    2011-01-01

    汉坦病毒主要引起两种疾病--肾综合征出血热和汉坦病毒肺综合征.前者在我国流行广泛.肾综合征出血热的主要特征是发热、出血、肾脏损伤,但它的发病机制尚不完全清楚,目前也没有对肾综合征出血热的特异性的治疗药物.了解汉坦病毒干扰正常细胞功能、激活固有免疫和适应性免疫反应的机制有助于今后特异性治疗方法和疫苗的研发.%Pathogenic hantaviruses replicate within human endothelial cells and cause two diseases, hemorrhagic fever with renal syndrome( HFRS ) and hantavirus puhnonary syndrome, and the former is prevalent in China. However,the mechanism by which hantaviruses cause the symtoms of fever, hemorrhage and renal damage are only partially understood. A better understanding of how hantaviruses interfere with normal cell functions and activation of innate and adaptive immune responses might provide clues to future development of specific treatment and vaccines against hantavirus infection.

  17. Hyponatremic Hypertensive Syndrome in an Obese Man with Renal Ischemia

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    Saeed Khawer

    2006-01-01

    Full Text Available Renovascular hypertension occasionally manifests as an electrolyte disorder. The combination of hyponatremia and renovascular hypertension is known as hyponatremic-hypertensive syndrome. This syndrome was initially reported in children. Here, we describe a 45 year-old Saudi man who was admitted to the hospital with generalized body weakness and inability to walk. He was confused and was noted to have severe hypertension and very low serum sodium and potassium. The patient was recently started on captopril for blood pressure control, which was discontinued because of deterioration of renal function. Color Doppler renal ultrasound, and magnetic resonance angiography confirmed the diagnosis of renal artery stenosis.

  18. Gastrointestinal and renal abnormalities in cardio-facio-cutaneous syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Herman, Thomas E.; McAlister, William H. [Washington University School of Medicine, St. Louis Children' s Hospital, Mallinckrodt Institute of Radiology, St. Louis, MO (United States)

    2005-02-01

    Cardio-facio-cutaneous syndrome (CFC) is an uncommon autosomal recessive condition recently distinguished from Noonan syndrome but with more marked growth failure and ectodermal dysplasia. Abdominal symptoms are frequently described but anatomic lesions in CFC have rarely been described. We have found significant anatomic abnormalities in CFC patients including antral foveolar hyperplasia, severe constipation with fecal impaction, nephrocalcinosis and renal cysts. (orig.)

  19. 肾综合征出血热新型疫苗研究进展%Progress in HFRS vaccine research

    Institute of Scientific and Technical Information of China (English)

    程林峰; 张芳琳; 余志凯

    2011-01-01

    肾综合征出血热(hemorrhagic fever with renal syndrome,HFRS)是由汉坦病毒(hantavirus)引起,由鼠类传播的一种急性病毒性传染病,临床上以发热、出血、急性肾功能损害和免疫功能紊乱为主要特征.HFRS流行于世界上近40个国家和地区,我国是世界上HFRS疫情最严重的国家,表现在流行范围广,发病人数多,病死率较高[1].HFRS的传染源和宿主动物广泛,传播途径多样,主要危害青壮年,临床上尚无特异有效的治疗药物,因此在我国HFRS的防治任务十分艰巨.

  20. Klinefelter's syndrome with renal tubular acidosis: impact on height.

    Science.gov (United States)

    Jebasingh, F; Paul, T V; Spurgeon, R; Abraham, S; Jacob, J J

    2010-02-01

    A 19-year-old Indian man presented with a history of proximal muscle weakness, knock knees and gynaecomastia. On examination he had features of rickets and bilateral small testes. Karyotyping revealed a chromosomal pattern of 47,XXX, confirming the diagnosis of Klinefelter's syndrome. He was also found to have hyperchloraemic metabolic acidosis with hypokalaemia, hypophosphataemia, phosphaturia and glycosuria, which favoured a diagnosis of proximal renal tubular acidosis. Patients with Klinefelter's syndrome typically have a tall stature due to androgen deficiency, resulting in unfused epiphyses and an additional X chromosome. However, this patient had a short stature due to associated proximal renal tubular acidosis. To the best of our knowledge, this is the second case of Klinefelter's syndrome with short stature due to associated renal tubular acidosis reported in the literature. This report highlights the need to consider other causes when patients with Klinefelter's syndrome present with a short stature.

  1. Comparison of two ELISA kits for the detection of the IgG antibodies against hemorrhagic fever with renal syndrome%2种检测人肾综合征出血热IgG抗体ELISA试剂盒的比较

    Institute of Scientific and Technical Information of China (English)

    李卓; 曾汉玉; 马樱; 刘媛; 张戎; 刘美宁; 陈丽华

    2015-01-01

    Objective To investigate the performance differences in detecting hemorrhagic fever with renal syndrome (HFRS) IgG Antibodies between domestic and imported ELISA kits. Methods Domestic and imported ELISA kits were used to detect HFRS IgG antibodies of the serum samples from 50 HFRS vaccinators, and the consistency, sensitivity, precision and methodology of the two ELISA kits were analyzed. Results Precision test showed that both the domestic and the imported ELISA kits had good precision, with the batch coefficient of variation of less than 5%. The positive consistency rate of the two ELISA kits was 100%, the negative consis-tency rate was 20%, and the similarity rate was 60%. The sensitivity of the domestic ELISA kits was 5 times higher than that of the imported ELISA kits, and the difference was significant between the two ELISA kits (P<0.05). Conclusions The sensitivity of the do-mestic ELISA kits is higher than that of the imported ELISA kits, the specificity of the imported ELISA kits is higher than that of the domestic ELISA kits, and both the domestic ELISA kits and the imported ELISA kits have good precision for the detection of HFRS IgG antibodies. The selection and application of the domestic or the imported ELISA kits depend on specific requirements.%目的 探讨国产与进口人肾综合征出血热(hemorrhagic fever with renal syndrome, HFRS)IgG抗体ELISA检测试剂盒的性能差异. 方法 采用国产和进口ELISA试剂盒分别检测50例HFRS疫苗接种者血清样本中抗人HFRS IgG抗体含量,分析比较2种ELISA试剂盒的一致性、灵敏性、精密度以及方法学等的差异. 结果 2种ELISA试剂盒的精密度良好,批内变异系数均<5%;2种试剂阳性一致率为100%,阴性一致率为20%,相似率为60%;灵敏性检测结果显示,2种ELISA试剂盒的灵敏性差异较大(P<0.05),国产ELISA试剂盒的灵敏度约是进口ELISA试剂盒的5倍. 结论 国产人HFRS IgG抗体ELISA检测试剂盒灵敏性好,进

  2. Vaccine Evaluation for the Hemorrhagic Fever with Renal Syndrome in One City%某市肾综合征出血热疫苗免疫效果评价

    Institute of Scientific and Technical Information of China (English)

    蔡正华; 于立芬; 李倩; 李琴丽; 王戬

    2011-01-01

    Objective To evaluate the effect of the vaccine for hemorrhagic fever with renal syndrome ( HFRS) , and to develop appropriate immunization methods. Method Selecting high incidence counties in Xi an to take HFRS vaccine and to calculate vaccination coverage; A retrospective study was carried out for epidemiological investigation; serum IgG antibody was tested to calculate seroconversion rate after vaccination; comparison of clinical symptoms and types between hemorrhagic fever patients with and without a history of vaccination. Result The cumulative vaccine coverage was 46. 61 % in high incidence counties. There had significantly difference for incidence between vaccine and non - vaccinated group (P<0.0001) from 2005 to 2010, total protection rate after vaccination was 94.67%. The infection rate of recessive hemorrhagic fever was 3. 28% , seroconversion rate was 54. 84%. The clinical symptoms and types had significant difference between HFRS patients with and without a history of vaccination. Conclusion vaccination can prevent HFRS, it is recommended to promote HFRS vaccination to block it at the age of 16 years in Xi'an.%目的 评价肾综合征出血热(HFRS)疫苗的预防效果,为制定适宜的免疫接种方法提供依据.方法 (1)选择西安市HFRS高发区县开展疫苗接种,计算疫苗接种率;(2)采用回顾性研究,对每位出血热患者进行流行病学调查;(3)检测血清IgG抗体,了解疫苗接种后抗体阳转率;(4)比较出血热患者中有、无疫苗接种史的发病的症状和临床分型差别.结果 (1)高发区县疫苗累计接种率为46.61%;(2)2005 ~2010年接种疫苗与未接种疫苗组发病率有明显差异(P <0.000 1),疫苗接种总保护率为94.67%;(3)出血热隐性感染率为3.28%,抗体阳转率为54.84%;(4) HFRS患者有、无疫苗接种史组的发病症状和临床分型有明显差异.结论 接种疫苗可以预防肾综合征出血热,建议以16岁为阻断年龄段在我市大力推广HFRS疫苗接种.

  3. Pulmonary-Renal Syndrome with a Focus on Anti-GBM Disease

    NARCIS (Netherlands)

    Sanders, Jan-Stephan F.; Rutgers, Abraham; Stegeman, Coen A; Kallenberg, Cees G.M.

    Pulmonary-renal syndrome is a potentially life-threatening combination of pulmonary hemorrhage and acute renal failure. Several pathological entities can cause this syndrome. This review discusses the diagnostic strategy required to initiate appropriate therapy. Rapid serological testing and

  4. Cardio-renal-anemia syndrome: A report of three cases

    Directory of Open Access Journals (Sweden)

    U H Okafor

    2012-01-01

    Full Text Available Patients with chronic kidney diseases (CKDs and cardiovascular diseases (CVDs present with various degree of anemia. Anemia has been associated with poor outcome in patients with CKD and CVD. CVD is the commonest cause of morbidity and mortality in patients with CKD. CKD causes anemia and CVD, and this rapidly deteriorates when anemia is not corrected. This triad of CVD, CKD, and anemia has been termed cardio-renal-anemia syndrome. The objec-tive of this study is to highlight the importance of cardio-renal-anemia syndrome, their relation-ship, and management. Three patients with various stages of CKD who presented with anemia and cardiovascular abnormalities are reported. The patients responded well to various interventional measures, with improvement in their clinical and laboratory parameters. Cardio-renal-anemia syndrome is an entity that should be identified. Early and appropriate intervention leads to better outcome.

  5. The Demand Flexibility Theory Applied to Study the Price of Vaccination Against Hemorrhagic Fever with Renal Syndrome%利用需求弹性理论探讨肾综合征出血热灭活疫苗接种价格

    Institute of Scientific and Technical Information of China (English)

    阮玉华; 郭欣; 傅继华; 康殿民; 张遵宝; 王昕宇; 张兴录; 王克安

    2001-01-01

    This paper studied the price reducing possibility of vaccination against hemorrhagic fever with renal syndrome (HFRS) with the demand flexibility theory, and its affecting factors. Investigation of willingness to pay for vaccination against HFRS in 821 individuals was carried out in high endemic area of HFRS. Price flexibility coefficient of demand and total gains were calculated and studied with thedata surveyed. The results revealed that the immunization coverage rate would be increased from 14.62% to 30.69% and price flexibility coefficient of demand was 0.98, when the price of vaccination was reduced from 30 yuan to 20 yuan; the total gains of vaccination would be greater than or be close to that of 30 yuan, if the vaccination costs were 10 yuan or 11 yuan. So the immunization coverage rate would be improved if the price of vaccination reduced, but such price depends on how to reduce and control the vaccination costs. Also, the demand of vaccination against HFRS in population can be roused through mass media education and behavior intervention to enhance their knowledge and attitude twoard HFRS prevention.%利用需求弹性理论探讨肾综合征出血热(HFRS)灭活疫苗接种价格降低的可行性及其影响因素。在HFRS高发区调查了821人HFRS灭活疫苗接种价格的支付意愿,分析和计算了需求的价格弹性系数和总收益。结果表明:当HFRS灭活疫苗接种价格从30元降为20元,接种率可从14.62%上升为30.69%,其弹性系数为0.98;当接种成本设定为10元和11元,其接种总收益要分别大于和接近接种价格为30元的情况。提高HFRS灭活疫苗人群接种率必需降低接种价格,接种价格降低的前提是能否降低或控制接种成本,其次需采用媒体知识宣传来提高人群HFRS灭活疫苗接种的卫生服备需求。

  6. Renal histology of mucocutaneous lymph node syndrome (Kawasaki disease).

    Science.gov (United States)

    Salcedo, J R; Greenberg, L; Kapur, S

    1988-01-01

    Renal involvement is well described in patients with mucocutaneous lymph node syndrome (MCLNS), or Kawasaki disease and is manifested by mild azotemia, hematuria, pyuria or cylinduria, and more often, proteinuria. Renal morphology during the acute stages of the illness has never been reported. In this paper we describe the renal histopathologic changes in a child with MCLNS. The glomerular histopathologic findings suggest immune complex damage to the kidney as a possible mechanism of nephrotoxicity in MCLNS. Presence of kidney lesions, which speak in favor of the injurious role of immune complexes in MLCNS may be relevant to the understanding of the pathogenesis of the vascular lesions that are characteristic of this disease.

  7. Campylobacter-Associated Hemolytic Uremic Syndrome Associated with Pulmonary-Renal Syndrome.

    Science.gov (United States)

    Bowen, Emily Elizabeth; Hangartner, Robert; Macdougall, Iain

    2016-03-01

    Common causes of pulmonary-renal syndrome include anti-glomerular basement membrane (anti-GBM) disease anti-neutrophil cytoplasmic antibody (ANCA) positive vasculitis, and systemic lupus erythematosus. We describe a case of life-threatening pulmonary hemorrhage associated with Campylobacter hemolytic uremic syndrome (HUS), which we believe is a new disease entity. We hypothesize that the cause of this pulmonary-renal syndrome was an immunological reaction to Campylobacter; and that the initiation of high-dose steroids was responsible for the rapid reversal of the patient's pulmonary and renal impairment. The aim of this article is to raise awareness of this unusual cause of a pulmonary-renal syndrome, guiding physicians to recognize it as a potential complication, and to consider high-dose steroids in managing the condition.

  8. Canine renal failure syndrome in three dogs.

    Science.gov (United States)

    Jeong, Won Il; Do, Sun Hee; Jeong, Da Hee; Chung, Jae Yong; Yang, Hai Jie; Yuan, Dong Wei; Hong, Il Hwa; Park, Jin Kyu; Goo, Moon Jung; Jeong, Kyu Shik

    2006-09-01

    Three dead dogs were brought to the College of Veterinary Medicine, Kyungpook National University for study. Clinically, all the dogs showed emaciation, anorexia, depression, hemorrhagic vomiting and diarrhea for 7-10 days before death. All the clinical signs were first noted for about one month after feeding the dogs with commercial diets. At necropsy, all 3 dogs had severe renal damage with the same green-yellowish colored nephroliths in the renal pelvis. They also showed systemic hemorrhage and calcification of several organs, which might have been induced by uremia. Microscopically, necrosis, calcification and calculi were detected in the renal tubules, and especially in the proximal convoluted tubules and collecting ducts of the kidney. These findings were supportive of a mycotoxic effect, and especially on their kidneys. However, the precise cause of the toxic effect in these cases of canine renal failure could not be determined.

  9. Clinical characteristics of 3090 caes of hemorrhagic fever with renal syndrome and risk factor analysis%3090例肾综合征出血热患者临床特征及发病危险因素分析

    Institute of Scientific and Technical Information of China (English)

    邢远; 蔡正华; 侯铁军; 张宏彦

    2013-01-01

    Objective In this paper we analyzed the major risk factors of hemorrhagic fever with renal syndrome(HFRS) as well as its clinical manifestation,so as to provide a basis for clinical diagnosis and effective control of HFRS in Xi'an.Methods The method of retrospective study was used to collect clinical data of hospitalized patients with HFRS between 2005 and 2010 in the Hospitals for Infectious Diseases in Xi'an city,Zhouzhi and Huxian counties and then clinical manifestations of the patients with HFRS were analyzed and classified according to the national standards for clinical symptoms and test indicators of HFRS.HFRS patients matched by the ratio of 1 ∶ 2 healthy human controls were retrospectively investigated in order to obtain risk factors relevant to HFRS incidence using casecontrol study.Odds ratio(OR) method was used for single factor study.While for the multifactor study,we took the conditional Logistic regression approach.We also built models for both studies.Factor with OR > 1 and P < 0.05 was judged to be a risk factor.Results A total of 3090 cases information of patients with HFRS and 6018 healthy controls were collected.Of the 3090 cases of HFRS patients,sixty vaccinated patients showed atypical clinical manifestations and they were mild or moderate cases and no deaths.A total of 3030 nonvaccinated patients had obvious clinical symptoms.Severe or critical cases accounted for 39.07%(1184/3030)and 60 patients died and the fatality rate was 1.98% (60/3030).The results of single factor Logistic regression analysis showed that of the 16 factors analyzed,the difference of 11 risk factors between the case group and the control group was statistically significant.Multivariate Logistic regression analysis showed that of the 11 factors,the difference of six factors between the case group and the control group was statistically significant.The main risk factors of suffering HFRS in the order were:exposure to rat pollutants,living in the affected areas

  10. Pregnancy in a patient with Goodpasture syndrome and renal transplantation.

    Science.gov (United States)

    Wells, S R; Kuller, J A; Thorp, J M

    1996-02-01

    Patients with Goodpasture syndrome have classically had decreased fertility and associated pregnancy wastage. Renal transplantation can increase the likelihood of successful pregnancy. We describe a patient who carried a pregnancy into the third trimester and had a good neonatal outcome. However, she developed superimposed preeclampsia with subsequent graft rejection.

  11. Nephrotic Syndrome and Acute Renal Failure Apparently Induced by Sunitinib

    Directory of Open Access Journals (Sweden)

    Ying-Shou Chen

    2009-10-01

    Full Text Available We report a case of nephrotic syndrome and acute renal failure apparently induced by sunitinib. A 67-year-old man with a history of metastatic renal cell carcinoma presented with progressive kidney dysfunction with proteinuria, general edema, and body weight gain of 21 kg after undergoing 3 weeks of sunitinib therapy. The patient had taken no other over-the-counter medications, and all other possible causes of nephrotic syndrome were excluded. The Naranjo Adverse Drug Reaction Probability Scale score for this event was 6, indicating a high probability that the observed presentations were associated with use of the drug. However, despite the discontinuation of sunitinib, his condition deteriorated, and hemodialysis was initiated for respiratory distress. A renal biopsy was performed, which revealed ischemic acute tubular necrosis with minimal change nephropathy. In conclusion, nephrologists and oncologists should be aware that nephrotic syndrome with ischemic acute tubular necrosis is a possible adverse effect of sunitinib. For early diagnosis of this condition and to avoid renal damage, we recommend differential diagnosis of serum creatinine and proteinuria in patients undergoing sunitinib therapy.

  12. Renal fibroblast-like cells in Goodpasture syndrome rats.

    Science.gov (United States)

    Okada, H; Inoue, T; Kanno, Y; Kobayashi, T; Ban, S; Kalluri, R; Suzuki, H

    2001-08-01

    The extent of renal fibrosis is the best predictor for functional outcomes in a variety of progressive renal diseases. Interstitial fibroblast-like cells (FbLCs) are presumably involved in the fibrotic process. However, such FbLCs have never been well characterized in the kidney. We characterized renal FbLCs in the nephritic kidney (in which the number of FbLCs and extracellular matrix accumulation were significantly increased) with regards to their expression of phenotypic and functional markers using day 49 Goodpasture syndrome (GPS) rats. Within the renal cortical interstitium, there were a number of alpha-smooth muscle actin(+) (alpha-SMA(+)) FbLCs, negative for vimentin (VIM) and transforming growth factor-beta 1, and not equipped with well-developed rough endoplasmic reticulum and actin-stress fibers. All of these findings were incompatible with the typical features of granulation tissue alpha-SMA(+) myofibroblasts. On the other hand, FbLCs negative for alpha-SMA and VIM produced alpha1(I) procollagen in the nephritic kidney. A number of FbLC populations reside within the cortical interstitium of the kidney in GPS rats, each of which is likely to have developed independently in response to the local conditions of the nephritic kidney, contributing to renal fibrogenesis. Further studies are needed to clarify the key type of FbLC that orchestrates other members to produce renal fibrosis.

  13. 重组N蛋白在HFRS/HPS诊断及分型中的研究进展

    Institute of Scientific and Technical Information of China (English)

    吴守丽; 严延生

    2005-01-01

    肾综合征出血热(hemorrhagic fever with renal syndrome,HFRS)是世界上分布广泛、发病数量多、危害大的一种疾病。疫区分布于亚、欧、非和美洲32个国家和地区,主要集中在亚欧一些国家,疫源地分布更广。HFRS是一组以发热、出血和肾脏损害为主要临床表现的急性传染病,它的病原体是汉坦病毒(Hantaviruses,HV)。本文将就国内外HV的核衣壳蛋白(NP)的有关研究进展进行综述。

  14. Amelogenesis imperfecta with distal renal tubular acidosis: A novel syndrome?

    Directory of Open Access Journals (Sweden)

    R A Misgar

    2017-01-01

    Full Text Available Amelogenesis imperfecta (AI is a heterogeneous group of inherited dental enamel defects. It has rarely been reported in association with multiorgan syndromes and metabolic disorders. The metabolic disorders that have been reported in association with AI include hypocalciuria, impaired urinary concentrating ability, and Bartter-like syndrome. In literature, only three cases of AI and distal renal tubular acidosis (dRTA have been described: two cases in adults and a solitary case in the pediatric age group. Here, we report a child with AI presenting with dRTA; to the best of our knowledge, our reported case is the only second such case in pediatric age group. Our case highlights the importance of recognizing the possibility of renal abnormalities in patients with AI as it will affect the long-term prognosis.

  15. Meckel-Gruber Syndrome with unilateral renal agenesis.

    Science.gov (United States)

    Uysal, Fatma; Uysal, Ahmet

    2015-04-01

    Meckel-Gruber Syndrome (MKS) is an autosomal recessive disorder, characterized by a combination of central nervous system malformation (occipital encephalocele), post-axial polydactyly, and enlarged polycystic kidney dysplasia. With a recurrence risk of 25% this lethal syndrome can be detected in early screening by ultrasound. However, to the authors' knowledge, association of MKS with unilateral renal agenesis was reported only once until now. Here, we describe a case of 26-year primigravida with 23 weeks pregnancy whose detailed sonographical examination of the fetus revealed large encephalocele through the posterior fontanelle microcephaly, anhydramnios, unilateral left enlarged polycystic kidney and right sided renal agenesis. The pregnancy was wilfully terminated on medical grounds. Risk for subsequent pregnancies was explained to the parents.

  16. Mucormycosis with Orbital Apex Syndrome in a Renal Transplant Recipient

    Directory of Open Access Journals (Sweden)

    Ebru Kursun

    2015-06-01

    Full Text Available Mucormycosis is a rarely encountered invasive fungal infection with high mortality.Solid organ transplantation is one of the risk factors for mucormycosis. Mucormycosis can be classified in six different groups according to the anatomical localization; rhinocerebral, pulmonary, cutaneous, gastrointestinal, disseminated, and other less common involvements. This paper presented a mucormycosis case with rhinoorbitocerebral involvementin a renal transplantation receiver, which manifested with orbital apex syndrome. [Cukurova Med J 2015; 40(2.000: 384-389

  17. Behcet's syndrome and renal involvement: a histological and immunofluorescent study of eleven renal biopsies.

    Science.gov (United States)

    Herreman, G; Beaufils, H; Godeau, P; Cassou, B; Wechsler, B; Boujeau, J; Chomette, G

    1982-01-01

    The finding of focal glomerulonephritis in a patient with Behcet's syndrome led us to perform systematic renal biopsies in ten other patients with the disease. None of the patients had symptoms of renal disease. Proteinuria was found in five, two of whom had associated leukocyturia. By light microscopy mesangial and extramembranous glomerular deposits were observed in eight patients. Arterioles in ten patients showed subendothelial and medial hyaline deposits. A granular pattern of fluorescent staining identified the presence of the third component of complement in these deposits. Circulating immune deposits were sought and found in six out of seven patients. The finding of circulating immune complexes and deposition of complement in glomerular and arteriolar tissues supports an immune complex mediated nephropathy and is consistent with the hypothesis of an immunological pathogenesis in Behcet's syndrome.

  18. An update on renal involvement in hemophagocytic syndrome (macrophage activation syndrome).

    Science.gov (United States)

    Esmaili, Haydarali; Mostafidi, Elmira; Mehramuz, Bahareh; Ardalan, Mohammadreza; Mohajel-Shoja, Mohammadali

    2016-01-01

    Hemophagocytic syndrome (HPS) is mainly characterized by massive infiltration of bone marrow by activated macrophages and often presents with pancytopenia. Thrombotic microangiopathy (TMA) is also present with thrombocytopenia and renal involvement. Both conditions could coexist with each other and complicate the condition. Directory of Open Access Journals (DOAJ), EMBASE, Google Scholar, PubMed, EBSCO, and Web of Science with keywords relevant to; Hemophagocytic syndrome, macrophage activation syndrome, interferon-gamma and thrombotic microangiopathy, have been searched. Viral infection, rheumatologic disease and malignancies are the main underlying causes for secondary HPS. calcineurin inhibitors and viral infections are also the main underlying causes of TMA in transplant recipients. In this review, we discussed a 39-year-old male who presented with pancytopenia and renal allograft dysfunction. With the diagnosis of HPS induced TMA his renal condition and pancytopenia improved after receiving intravenous immunoglobulin (IVIG) and plasmapheresis therapy. HPS is an increasingly recognized disorder in the realm of different medical specialties. Renal involvement complicates the clinical picture of the disease, and this condition even is more complex in renal transplant recipients. We should consider the possibility of HPS in any renal transplant recipient with pancytopenia and allograft dysfunction. The combination of HPS with TMA future increases the complexity of the situation.

  19. [The acute renal and cerebral toxicity of lithium: a cerebro-renal syndrome? A case report].

    Science.gov (United States)

    Prencipe, M; Cicchella, A; Del Giudice, A; Di Giorgio, A; Scarlatella, A; Vergura, M; Aucella, F

    2013-01-01

    This descriptive report describes the case of a 50 year-old woman with bipolar disorder, whose maintenance therapy comprised risperidone, sodium valproato and lithium carbonate without any past occurrence of toxicity. Her past medical history was significant for hypertension, cardiopathy and obesity. She presented with a 1-week history of fever, increasing confusion and slurred speech. At presentation, the patient was somnolent. Laboratory investigations revealed a serum creatinine of 3,6 mg/dl, BUN 45 mg/dl serum lithium 3,0 mEq/L with polyuria defined as more than 3 litres a day. EEG and ECG were abnormal. CT brain scanning and lumbar puncture were negative for brain haemorrage or infection. Lithium toxicity causes impairment of renal concentration and encephalopathy due to lithium recirculation, a mechanism responsible for the so-called cerebro-renal syndrome, where dialysis plays an important role in treatment.The patient was treated with continous veno-venous haemodiafiltration (CVVHDF) over 35 hours with gradual improvement of her general condition and efficacy of renal concentration. Our case highlights a few important points. Lithium nefrotoxicity and neurotoxicity can cause a cerebro-renal syndrome even when serum lithium levels are not particularly raised (2,5-3,5 mEq/L). Haemodialysis is the treatment of choice to reduce the molecular mechanisms of lithium-related changes in urinary concentration and reinstate dopaminergic activity in the brain.

  20. INTERMEDIATE SYNDROME: A TYPICAL PATTERN OF PRE-RENAL ACUTE RENAL FAILURE IN THE ELDERLY

    Directory of Open Access Journals (Sweden)

    Greloni G

    2004-01-01

    Full Text Available Acute renal failure is a frequent entity in the elderly. This is due on one hand to the structural and physiological changes of the aged kidney, and on the other hand to the exposure of this population to polypharmacy and their reduced capability to metabolize drugs. In the present report we present a case of a seventy year-old woman who developed acute renal failure secondary to severe dehydration with a clinical and laboratory pattern of intermediate syndrome: laboratory results compatible with parenchymal renal insufficiency (elevated urinary sodium, plasma urea and creatinine, but with a positive response to hydration. The main characteristics of the aged kidney that predispose to the development of an intermediate syndrome are: the vascular dysautonomy and reduced capability of sodium and water reabsorption. The intermediate syndrome is a typical pattern of pre-renal insufficiency in the elderly. RESUMEN: La insuficiencia renal aguda es frecuente en el anciano. Esto se debe por un lado a los cambios estructurales y funcionales propios del riñón senil, y por otro a la gran exposición que esta población tiene a la polifarmacia, y su reducida capacidad para metabolizar los medicamentos. En este reporte presentamos el caso de una mujer de 70 años que desarrolló una insuficiencia renal aguda secundaria a severa deshidratación, mostrando un patrón clínico y de laboratorio propio de un sindrome intermedio: laboratorios compatibles con una insuficiencia renal parenquimatosa (sodio urinario, uremia y creatininemia elevadas, pero con una respuesta favorable a la hidratación. Las principales características del riñón senil que predisponen al desarrollo del sindrome intermedio: son la disautonomía vascular y la reducida capacidad en la recuperación de sodio y agua El sindrome intermedio es un patrón típico de insuficiencia prerrenal en el anciano.

  1. Altered renal distal tubule structure and renal Na(+) and Ca(2+) handling in a mouse model for Gitelman's syndrome.

    NARCIS (Netherlands)

    Loffing, J.; Vallon, V.; Loffing-Cueni, D.; Aregger, F.; Richter, K.H.; Pietri, L.; Bloch-Faure, M.; Hoenderop, J.G.J.; Shull, G.E.; Meneton, P.; Kaissling, B.

    2004-01-01

    Gitelman's syndrome, an autosomal recessive renal tubulopathy caused by loss-of-function mutations in the thiazide-sensitive NaCl co-transporter (NCC) of the distal convoluted tubule (DCT), is characterized by mild renal Na(+) wasting, hypocalciuria, hypomagnesemia, and hypokalemic alkalosis. For ga

  2. Novel EYA1 variants causing Branchio-oto-renal syndrome.

    Science.gov (United States)

    Klingbeil, Kyle D; Greenland, Christopher M; Arslan, Selcuk; Llamos Paneque, Arianne; Gurkan, Hakan; Demir Ulusal, Selma; Maroofian, Reza; Carrera-Gonzalez, Andrea; Montufar-Armendariz, Stefany; Paredes, Rosario; Elcioglu, Nursel; Menendez, Ibis; Behnam, Mahdiyeh; Foster, Joseph; Guo, Shengru; Escarfuller, Sebastian; Cengiz, Filiz Basak; Duman, Duygu; Bademci, Guney; Tekin, Mustafa

    2017-07-01

    Branchio-oto-renal (BOR) syndrome is an autosomal dominant genetic disorder characterized by second branchial arch anomalies, hearing impairment, and renal malformations. Pathogenic mutations have been discovered in several genes such as EYA1, SIX5, and SIX1. However, nearly half of those affected reveal no pathogenic variant by traditional genetic testing. Whole Exome sequencing and/or Sanger sequencing performed in 10 unrelated families from Turkey, Iran, Ecuador, and USA with BOR syndrome in this study. We identified causative DNA variants in six families including novel c.525delT, c.979T > C, and c.1768delG and a previously reported c.1779A > T variants in EYA1. Two large heterozygous deletions involving EYA1 were detected in additional two families. Whole exome sequencing did not reveal a causative variant in the remaining four families. A variety of DNA changes including large deletions underlie BOR syndrome in different populations, which can be detected with comprehensive genetic testing. Copyright © 2017 Elsevier B.V. All rights reserved.

  3. 肾综合征出血热IMMS-ELISA检测方法建立%IMMS-ELISA :a test method for hemorrhagic fever with renal syndrome

    Institute of Scientific and Technical Information of China (English)

    苏旭; 赵凤玲; 吕莉琨; 李力; 杨东靖; 陈锦英

    2012-01-01

    目的 建立一种用于检测肾综合征出血热(HFRS)特异性抗体IgG的ELISA方法一免疫磁性微球(IMMS)ELISA.方法 利用重组菌株E.coli BL21( DE3) /pET32a-L99S诱导表达SEO型汉坦病毒(HV)重组核蛋白(rNP),并进行镍亲和层析纯化,以纯化rNP为抗原,分别建立检测HFRS特异性抗体IgG的3种ELISA法:间接ELISA、捕获ELISA和IMMS -ELISA,并进行方法学比较.结果 新建立的3种ELISA的检测灵敏度和特异度为≥90%,总符合率≥95%.其中间接ELISA的灵敏度达100%,而假阳性率为10%;捕获ELISA特异度达100%,灵敏度较低(92.5%),且假阴性率为7.5%;IMMS-ELISA的灵敏度和特异度均达到100%.结论 IMMS-ELISA较其他2种ELISA检测方法更为简单、安全和准确,易于在基层公共卫生和临床医疗机构推广使用.%Objective To establish a novel enzyme-linked immunosorbent assay(ELISA) method, namely immu-nomagnetic microspheres( IMMS) -ELISA, to detect specific IgG in hemorrhagic fever patients with renal syndrom( HFRS). Methods The recombinant nucleocapsid protein(rNP) of SEO hantavirus was expressed by the recombinant strain,E. Coli BL21(DE3)/pET32a-L99S. Purified rNP was used as an antigen to establish three ELISA methods, including indirect ELISA,capture ELISA and IMMS-ELISA,for the detection of specific IgG in HFRS patients. The results of the three methods were compared with each other. Results The sensitivity and specificity of the three ELISA methods were all higher than 90% and their coincidence rates were all higher than 95%. The sensitivity of indirect ELISA was 100% ,but its false positive rate was 10%. The specificity of capture ELISA was 100% ,but its sensitivity was lower(92. 5% ) than that of other two methods. The sensitivity and specificity of IMMS-ELISA were all 100%. Conclusion IMMS-ELISA is a simpler, safer,and more accurate than indirect and capture ELISA method, and easy to use in grassroots public health and clinical medical

  4. Living donor renal transplantation in patients with antiphospholipid syndrome

    Science.gov (United States)

    Choi, Ji Yoon; Jung, Joo Hee; Shin, Sung; Kim, Young Hoon; Han, Duck Jong

    2016-01-01

    Abstract Introduction: Antiphospholipid syndrome (APS), autoantibodies directed against phospholipid-binding proteins are associated with cause vascular thrombosis. Patients with APS requiring renal transplantation are at risk of early graft loss due to arterial or venous thrombosis, or thrombotic microangiopathy (TMA). Here, we report 3 cases of successful renal transplantation in patients with APS. Clinical Findings: A 53-year-old man with end-stage renal disease (ESRD) had experienced bilateral deep venous thrombosis (DVT) in the lower extremities 16 years ago and was administered warfarin. However, he frequently experienced recurrent DVT despite of anticoagulation therapy. Before the surgery, APS was confirmed based on positive results lupus anticoagulant in serological tests. A 40-year-old man with polycystic kidney disease and a history recurrent DVT tested positive for lupus anticoagulant and anticardiolipin antibodies. Lastly, a 42-year-old woman with ESRD was diagnosed with APS 7 years ago. She also developed DVT and tested positive for lupus anticoagulant and anti-B2-glycoprotein 1. The anticoagulation protocol was as follows in all cases: Warfarin was stopped 5 days before living donor renal transplantation and intravenous heparin therapy was started. During surgery, bolus heparin injections (3000 U) were administered to prevent arterial or venous thrombosis. Heparin was substituted with warfarin on postoperative day 4. The third patient (42/F) developed clinical rejection indicated by increased serum creatinine levels and donor-specific antibodies (DSA) and received steroid pulse therapy, plasmapheresis, and rituximab. This treatment restored graft function to within the normal range. The latest graft function in all patients was maintained at normal levels in the outpatient clinic. Conclusions: Living donor renal transplantation may be successful in patients with APS following perioperative anticoagulation therapy. However, because of the high risk of

  5. Pulmonary-Renal Syndrome with a Focus on Anti-GBM Disease

    NARCIS (Netherlands)

    Sanders, Jan-Stephan F.; Rutgers, Abraham; Stegeman, Coen A; Kallenberg, Cees G.M.

    2011-01-01

    Pulmonary-renal syndrome is a potentially life-threatening combination of pulmonary hemorrhage and acute renal failure. Several pathological entities can cause this syndrome. This review discusses the diagnostic strategy required to initiate appropriate therapy. Rapid serological testing and appropr

  6. Outcomes of male patients with Alport syndrome undergoing renal replacement therapy

    DEFF Research Database (Denmark)

    Temme, Johanna; Kramer, Anneke; Jager, Kitty J;

    2012-01-01

    Patients with the hereditary disease Alport syndrome commonly require renal replacement therapy (RRT) in the second or third decade of life. This study compared age at onset of RRT, renal allograft, and patient survival in men with Alport syndrome receiving various forms of RRT (peritoneal dialys...

  7. Ectopic germinal center and megalin defect in primary Sjogren syndrome with renal Fanconi syndrome.

    Science.gov (United States)

    Wang, Jing; Wen, Yubing; Zhou, Mengyu; Shi, Xiaoxiao; Jiang, Lanping; Li, Mingxi; Yu, Yang; Li, Xuemei; Li, Xuewang; Zhang, Wen; Lundquist, Andrew L; Chen, Limeng

    2017-06-02

    This study reports the clinical and pathological features of 12 cases of primary Sjogren syndrome (pSS) with renal involvement presenting with proximal tubular dysfunction in a single center, and investigates the possible correlation of ectopic germinal center formation and megalin/cubilin down-expression. Clinical and pathological records were reviewed. Immunohistochemistry was carried out to detect megalin, cubilin, CD21 and IL-17 expression. Patients presented with different degrees of proximal renal tubule lesion and decreased estimated glomerular filtration rate (eGFR). Renal biopsy revealed tubulointerstitial nephritis, with tubular epithelial cell degeneration, tubular atrophy, interstitial inflammation and focal fibrosis. Immunohistochemistry revealed decreased expression of megalin and cubilin, two important multiligand protein receptors on the brush border of proximal tubular epithelial cells. IL-17 secreted by Th17 subtype effector T cells was diffusely detected in the renal proximal tubule, with a negative correlation of IL-17 and megalin expression. In addition, ectopic germinal centers characterized by CD21(+) follicular dendritic cells were present in the renal interstitium. In patients with a decreased eGFR, treatment with 4 weeks of glucocorticoid therapy resulted in an improved eGFR in 75% of patients. We report 12 cases of pSS characterized by Fanconi syndrome. The decreased megalin and cubilin expression may contribute to the proximal tubular reabsorption defect, possibly secondary to Th17 infiltration and formation of ectopic germinal centers.

  8. Atypical Hemolytic Uremic Syndrome Recurrence after Renal Transplantation

    Science.gov (United States)

    Bouatou, Yassine; Bacchi, Véronique Frémeaux; Villard, Jean; Moll, Solange; Martin, Pierre-Yves; Hadaya, Karine

    2015-01-01

    Abstract Risk for atypical hemolytic uremic syndrome (aHUS) recurrence after renal transplantation is low with an isolated membrane cofactor protein mutation (MCP). We report the case of a 32-year-old woman with a MCP who underwent kidney transplantation with a good evolution at 12 months. At 15 and 35 months, 2 episodes of thrombotic microangiopathy (TMA), after a miscarriage and a preeclampsia, were misinterpreted as triggered by tacrolimus. After each episode however serum creatinine returned to baseline. Five years after transplantation, she had a self-limited rhinosinusitis followed 3 weeks later by an oliguric renal failure. Her complement profile was normal. Graft biopsy showed C3 glomerulonephritis with no “humps” on electron microscopy. No significant renal function improvement followed methylprednisolone pulsing. A second biopsy showed severe acute TMA lesions with C3 glomerular deposits. Despite weekly eculizumab for 1 month, dialysis was resumed. A new workup identified the “at-risk” complement factor H haplotype. Thus, aHUS recurrence should be ruled out in aHUS patients considered at low recurrence risk when a TMA is found in graft biopsy. Prompt eculizumab therapy should be considered to avoid graft loss as aHUS recurrence can first present as a C3 glomerulonephritis. PMID:27500215

  9. Renal salt-wasting syndrome in children with intracranial disorders.

    Science.gov (United States)

    Bettinelli, Alberto; Longoni, Laura; Tammaro, Fabiana; Faré, Pietro B; Garzoni, Luca; Bianchetti, Mario G

    2012-05-01

    Hypotonic hyponatremia, a serious and recognized complication of any intracranial disorder, results from extra-cellular fluid volume depletion, inappropriate anti-diuresis or renal salt-wasting. The putative mechanisms by which intracranial disorders might lead to renal salt-wasting are either a disrupted neural input to the kidney or the elaboration of a circulating natriuretic factor. The key to diagnosis of renal salt-wasting lies in the assessment of extra-cellular volume status: the central venous pressure is currently considered the yardstick for measuring fluid volume status in subjects with intracranial disorders and hyponatremia. Approximately 110 cases have been reported so far in subjects ≤18 years of age (male: 63%; female: 37%): intracranial surgery, meningo-encephalitis (most frequently tuberculous) or head injury were the most common underlying disorders. Volume and sodium repletion are the goals of treatment, and this can be performed using some combination of isotonic saline, hypertonic saline, and mineralocorticoids (fludrocortisone). It is worthy of a mention, however, that some authorities contend that cerebral salt wasting syndrome does not exist, since this diagnosis requires evidence of a reduced arterial blood volume, a concept but not a measurable variable.

  10. A case of Klippel-Feil syndrome with renal agenesis

    Directory of Open Access Journals (Sweden)

    Mehmet Karakoç

    2010-05-01

    Full Text Available Klippel-Feil syndrome (KFS is is a rare syndrome that characterized by fusion of at least two congenital vertebrae in the cervical region. The most common characteristics of KFS are short neck, low nuchal hair line and restricted joint mobility of the cervical region.Addititonal features are scoliosis, sipina bifida, cervical rib, Sprengel deformity and facial asymmetry, and renal and cardiac anomalies. In this report a 10 years old girl was admitted with complaints of short stature and abnormal neck curvature. Physical examination of the patient revealed short neck, low nuchal hair line, and Sprengel’s deformity, height hard palate, facial asymmetry and torticollis. Cervical paravertebral muscle spasm was found on the left as (+ / right (+ +. Muscle tone, muscle strength, reflexes and sensory examination were found to be normal. Radiological examination of the C4-5 and C6-7 cervical region revealed the loss of inteverebral disc spaces and block vertebra. Also there was hemivertebra anomaly and aplasia of odontoid process. Abdominal and pelvic ultrasound examination revelaed absence of right kidney. Echocardiographical examination gave no abnormality. The case was presented in order to draw attention to KFS with renal agenesia in the light of current literature.

  11. Osteomalacia complicating renal tubular acidosis in association with Sjogren's syndrome.

    Science.gov (United States)

    El Ati, Zohra; Fatma, Lilia Ben; Boulahya, Ghada; Rais, Lamia; Krid, Madiha; Smaoui, Wided; Maiz, Hedi Ben; Beji, Soumaya; Zouaghi, Karim; Moussa, Fatma Ben

    2014-09-01

    Renal involvement in Sjogren's syndrome (SS) is not uncommon and may precede other complaints. Tubulointerstitial nephritis is the most common renal disease in SS and may lead to renal tubular acidosis (RTA), which in turn may cause osteomalacia. Nevertheless, osteomalacia rarely occurs as the first manifestation of a renal tubule disorder due to SS. We herewith describe a 43-year-old woman who was admitted to our hospital for weakness, lumbago and inability to walk. X-ray of the long bones showed extensive demineralization of the bones. Laboratory investigations revealed chronic kidney disease with serum creatinine of 2.3 mg/dL and creatinine clearance of 40 mL/min, hypokalemia (3.2 mmol/L), hypophosphatemia (0.4 mmol/L), hypocalcemia (2.14 mmol/L) and hyperchloremic metabolic acidosis (chlorine: 114 mmol/L; alkaline reserve: 14 mmol/L). The serum alkaline phosphatase levels were elevated. The serum levels of 25-hydroxyvitamin D and 1,25-dihydroxy vitamin D were low and borderline low, respectively, and the parathyroid hormone level was 70 pg/L. Urinalysis showed inappropriate alkaline urine (urinary PH: 7), glycosuria with normal blood glucose, phosphaturia and uricosuria. These values indicated the presence of both distal and proximal RTA. Our patient reported dryness of the mouth and eyes and Schirmer's test showed xerophthalmia. An accessory salivary gland biopsy showed changes corresponding to stage IV of Chisholm and Masson score. Kidney biopsy showed diffuse and severe tubulo-interstitial nephritis with dense lymphoplasmocyte infiltrates. Sicca syndrome and renal interstitial infiltrates indicated SS as the underlying cause of the RTA and osteomalacia. The patient received alkalinization, vitamin D (Sterogyl ®), calcium supplements and steroids in an initial dose of 1 mg/kg/day, tapered to 10 mg daily. The prognosis was favorable and the serum creatinine level was 1.7 mg/dL, calcium was 2.2 mmol/L and serum phosphate was 0.9 mmol/L.

  12. Computed tomographic findings in a case of renal vein thrombosis with nephrotic syndrome.

    Science.gov (United States)

    Adler, J; Greweldinger, J; Hallac, R; Frier, S

    1981-01-01

    Renal vein thrombosis is a complication of the nephrotic syndrome presumably related to compression of renal veins by edematous parenchyma and a concomitant hypercoagulable state. The diagnosis has been made by demonstrating marked widening of the left renal vein as it crosses horizontally anterior to the aorta on computed tomography. Inferior venacavography confirmed the presence of thrombosis within the vessels. CT is suggested as a method for noninvasive imaging of the renal veins which might eliminate the need for venography.

  13. Renal anomalies in patients with turner syndrome: Is scintigraphy superior to ultrasound?

    Science.gov (United States)

    Hamza, Rasha T; Shalaby, Mennatallah H; Hamed, Laith S; Abdulla, Dunya B A; Elfekky, Sahar M; Sultan, Omar M

    2016-02-01

    Renal anomalies are present in up to 30% of patients with Turner syndrome (TS). Renal ultrasound (U/S) detects anatomical renal anomalies only while renal scintigraphy detects anomalies, detects early renal malfunction, and estimates glomerular filtration rate (GFR). Thus, we aimed to assess frequency of renal abnormalities detected by scintigraphy in comparison to renal U/S in TS patients. Ninety TS patients were subjected to auxological assessment, measurement of serum creatinine; and renal U/S and scintigraphy. Renal U/S detected renal anomalies in 22.22% of patients versus 17.78 % detected by scintigraphy (P = 0.035). Scintigraphy detected renal functional abnormalities in 44.44% of patients in the form of subnormal total GFR, abnormal renogram curve pattern, improper tracer handling and perfusion; and difference in split renal function >10% between both kidneys. Patients with a 45,X karyotype had more renal functional abnormalities (56%) than those with mosaic karyotype (33.33%), P = 0.04. In conclusion, renal scintigraphy is not superior to U/S in detection of renal anomalies but is a reliable method for early detection of renal malfunction in TS patients especially those with 45,X to ensure early management to offer a better quality of life.

  14. Cochlear implantation in branchio-oto-renal syndrome — A surgical challenge

    OpenAIRE

    Kameswaran, Mohan; Kumar, R. S. Anand; Murali, Sathiya; Raghunandhan, S.; Karthikeyan, K.

    2007-01-01

    Branchio-oto-renal syndrome (Melnick-Fraser Syndrome) is a rare Autosomal Dominant disorder characterized by the syndromic association of branchial cysts or fistulae along with external, middle & inner malformations and renal anomalies. Incomplete penetrance and variable expressivity are common with the phenotypic variation ranging from mild to severe forms & consisting of various eye, ear, oral and craniofacial abnormalities. Mutations in the EYA1 gene on chromosomal site 8q13.3 are identifi...

  15. Cochlear implantation in branchio-oto-renal syndrome — A surgical challenge

    OpenAIRE

    Kameswaran, Mohan; Kumar, R. S. Anand; Murali, Sathiya; Raghunandhan, S.; K.KARTHIKEYAN

    2007-01-01

    Branchio-oto-renal syndrome (Melnick-Fraser Syndrome) is a rare Autosomal Dominant disorder characterized by the syndromic association of branchial cysts or fistulae along with external, middle & inner malformations and renal anomalies. Incomplete penetrance and variable expressivity are common with the phenotypic variation ranging from mild to severe forms & consisting of various eye, ear, oral and craniofacial abnormalities. Mutations in the EYA1 gene on chromosomal site 8q13.3 are identifi...

  16. Forecasting Model of Gene Enzyme Polymorphism Detoxification in Patients Suffered from HFRS

    Directory of Open Access Journals (Sweden)

    G. M. Hasanova

    2016-01-01

    Full Text Available Aim: to study gene enzyme polymorphism of xenobiotic detoxification in patients suffered from HFRS influenced by disease severityProceedings : Molecular genetic checkup has been done in 292 patients suffered from HFRS and 426 seronegative donors.DNA samples isolated from lymphocytes of peripheral gene enzyme were used for molecular genetic checkup. Phenic-chloroform extraction method was applied to isolate DNA. The given DNA was used for polymerase chain reaction of DNA synthesis. Polymorphous CYP1A1 and GSTP1 gene locus analysis was performed on an automatic basis by polymerase chain reaction of DNA synthesis in a thermal cycle «Terzik» produced «DNK–techologiya» ( Moscow city with the use of locus specific and oligonucleotide primers.Outcomings: Glutathion-S-transferase class π with A313G locus of AG heterozygous genotype is typical for people of Bashkortostan due to underlying risk for HFRS. A combination of genotypes in the form of cytochrome P-450A1 with polymorphous locus A2455G and glutathione-S-transferase class π with A313G locus of AG can be found only in case of severe form of HFRS.

  17. [Rhabdomyolysis with acute renal failure and malignant neuroleptic syndrome].

    Science.gov (United States)

    Kleinknecht, D; Parent, A; Blot, P; Bochereau, G; Lallement, P Y; Pourriat, J L

    1982-01-01

    Seven episodes of rhabdomyolysis with acute renal failure (ARF) have been observed in 6 patients treated with various short-acting tranquilizers and antidepressants. Clinical features usually included severe hyperthermia, diffuse hypertonicity with or without coma, circulatory failure or unstable blood pressure, and often acute respiratory failure. Serum CPK were always elevated. The type of ARF was prerenal failure without oliguria in 5/7 episodes, and acute tubular necrosis in 2/7 episodes, requiring hemodialyses in one patient. Three patients died. In any case, the tranquilizers and antidepressants responsible for this syndrome were stopped, and electrolyte disorders and acidosis were corrected. Associated acute circulatory failure, septicemia and/or acute hepatic failure required prompt therapy, and artificial ventilation was required in 4 instances. The further use of phenothiazines, butyrophenones, sulpiride and their derivatives should be avoided in any patient having developed such an accident, whose pathophysiology is similar to that described in malignant hyperthermia of various origin.

  18. Exosomes: a potential key target in cardio-renal syndrome

    Directory of Open Access Journals (Sweden)

    Laura eGonzalez-Calero

    2014-10-01

    Full Text Available Exosomes have proven roles in regulating immune response, antigen presentation, RNA and protein transfer, and cell–cell (organ–organ interaction/signaling. These microvesicles can be considered a mechanism of non-classical secretion of proteins, and they represent a sub-proteome, thus assisting in the difficult task of biomarker discovery in a biological fluid as urine, plasma or serum. A potential role of exosomes in the cardio-renal syndrome is currently underexplored. Cardiovascular disease (CVD continues to be the leading cause of morbidity and mortality worldwide and, particularly, rates of cardiovascular events and death consistently increase as kidney function worsens. In other words, chronic kidney disease acts as a risk multiplier. Unfortunately, the relationship between markers of cardiovascular risk in kidney pathology often differs from that in the general population. Efforts in the search for novel action mechanisms simultaneously operating in both pathologies are thus of maximum interest.This article focuses to the role of exosomes in cardiovascular and renal diseases, in the search for novel key targets of interaction between heart and kidneys.

  19. Treatment of compartment syndrome of the thigh associated with acute renal failure after the Wenchuan earthquake.

    Science.gov (United States)

    Duan, Xin; Zhang, Kaiwei; Zhong, Gang; Cen, Shiqiang; Huang, Fuguo; Lv, Jingtong; Xiang, Zhou

    2012-04-01

    Compartment syndrome of the thigh is a rare emergency often treated operatively. The purpose of this study was to evaluate the effects of nonoperative treatment for compartment syndrome of the thigh associated with acute renal failure after the 2008 Wenchuan earthquake. Nonoperative treatment, which primarily involves continuous renal replacement therapy, was performed in 6 patients (3 men and 3 women) who presented with compartment syndrome of the thigh associated with acute renal failure. The mean mangled extremity severity score (MESS) and laboratory data regarding renal function were analyzed before and after treatment, and the clinical outcome was evaluated at 17-month follow-up. Laboratory data regarding renal function showed improvements. All 6 patients survived with the affected lower limbs intact after nonoperative treatment. Follow-up revealed active knee range of motion and increased muscle strength, as well as a recovery of sensation. A positive linear correlation was found between MESS and the time required to achieve a reduction in swelling, as well as the time required for the recovery of sensation and knee range of motion (r>0.8; P<.05). Satisfactory clinical outcomes were obtained in patients with compartment syndrome of the thigh associated with acute renal failure.Urine alkalization, electrolyte and water balance, and continuous renal replacement therapy have played an important role in saving lives and extremities. Nonoperative treatment should be considered in the treatment of compartment syndrome of the thigh associated with acute renal failure.

  20. Pulmonary renal syndrome in childhood: a report of twenty-one cases and a review of the literature.

    Science.gov (United States)

    von Vigier, R O; Trummler, S A; Laux-End, R; Sauvain, M J; Truttmann, A C; Bianchetti, M G

    2000-05-01

    In adults, the term specific pulmonary renal syndrome describes disorders with pulmonary and glomerular manifestations and includes Wegener's granulomatosis, Goodpasture disease, and systemic lupus erythematosus. Nonspecific pulmonary renal syndrome refers to either pulmonary disease complicating glomerular disease, or glomerular diseases following pulmonary disease. Since little is known regarding pulmonary renal syndrome in childhood, we reviewed the charts of 21 pediatric patients with pulmonary renal syndromes treated by the Department of Pediatrics, University of Bern between 1991 and 1998; we also reviewed the pediatric literature that deals with specific pulmonary renal syndromes. Specific pulmonary renal syndrome was noted in 3 children with systemic vasculitis (Wegener granulomatosis, N = 2; microscopic polyangiitis, N = 1) and 2 with systemic lupus erythematosus. Nonspecific pulmonary renal syndrome was observed in 12 patients with pulmonary edema (N = 9), pulmonary thromboembolism (N = 2), and pulmonary infection (N = 1) complicating the course of a glomerular disease, and in 4 children with a pulmonary disease followed by a glomerular disease. Review of the literature disclosed 52 cases of specific pulmonary renal syndrome other than systemic lupus erythematosus: Wegener granulomatosis (N = 28), Goodpasture disease (N = 13), and Henoch-Schönlein purpura (N = 11). In addition, hemolytic uremic syndrome complicated pneumococcal pneumonia in 32 cases. We conclude that pulmonary renal syndromes need to be looked for in childhood. Apart from Wegener granulomatosis, Goodpasture disease, and systemic lupus erythematosus, Henoch-Schönlein purpura and hemolytic-uremic syndrome occasionally have both pulmonary and renal features. Copyright 2000 Wiley-Liss, Inc.

  1. Enamel renal syndrome with associated amelogenesis imperfecta, nephrolithiasis, and hypocitraturia: A case report.

    Science.gov (United States)

    Bhesania, Dhvani; Arora, Ankit; Kapoor, Sonali

    2015-09-01

    Numerous cases of enamel renal syndrome have been previously reported. Various terms, such as enamel renal syndrome, amelogenesis imperfecta and gingival fibromatosis syndrome, and enamel-renal-gingival syndrome, have been used for patients presenting with the dental phenotype characteristic of this condition, nephrocalcinosis or nephrolithiasis, and gingival findings. This report describes a case of amelogenesis imperfecta of the enamel agenesis variety with nephrolithiasis in a 21-year-old male patient who complained of small teeth. The imaging modalities employed were conventional radiography, cone-beam computed tomography, and renal sonography. Such cases are first encountered by dentists, as other organ or metabolic diseases are generally hidden. Hence, cases of amelogenesis imperfecta should be subjected to advanced diagnostic modalities, incorporating both dental and medical criteria, in order to facilitate comprehensive long-term management.

  2. Enamel renal syndrome with associated amelogenesis imperfecta, nephrolithiasis, and hypocitraturia: A case report

    Energy Technology Data Exchange (ETDEWEB)

    Bhesania, Dhvani; Arora, Ankit; Kapoor, Sonali [Dept. of Conservative Dentistry and Endodontics, Manubhai Patel Dental College, Maharaja Krishnakumarsinhji Bhavnagar University, Vadodara (India)

    2015-09-15

    Numerous cases of enamel renal syndrome have been previously reported. Various terms, such as enamel renal syndrome, amelogenesis imperfecta and gingival fibromatosis syndrome, and enamel-renal-gingival syndrome, have been used for patients presenting with the dental phenotype characteristic of this condition, nephrocalcinosis or nephrolithiasis, and gingival findings. This report describes a case of amelogenesis imperfecta of the enamel agenesis variety with nephrolithiasis in a 21-year-old male patient who complained of small teeth. The imaging modalities employed were conventional radiography, cone-beam computed tomography, and renal sonography. Such cases are first encountered by dentists, as other organ or metabolic diseases are generally hidden. Hence, cases of amelogenesis imperfecta should be subjected to advanced diagnostic modalities, incorporating both dental and medical criteria, in order to facilitate comprehensive long-term management.

  3. The cardio-renal-anaemia syndrome predicts survival in peritoneally dialyzed patients

    National Research Council Canada - National Science Library

    Malyszko, Jolanta; Zbroch, Edyta; Malyszko, Jacek; Mysliwiec, Michal; Iaina, Adrian

    2010-01-01

    .... The correction of anaemia was effective in the amelioration of both cardiac and renal failure. We studied the relationship between the severity of CRA syndrome in peritoneally dialyzed patients and their survival probability...

  4. Branchio-oto-renal syndrome: comprehensive review based on nationwide surveillance in Japan.

    Science.gov (United States)

    Morisada, Naoya; Nozu, Kandai; Iijima, Kazumoto

    2014-06-01

    Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder characterized by branchiogenic malformation, hearing loss and renal anomalies. The prevalence of BOR syndrome is 1/40,000 in Western countries, and nationwide surveillance in 2009-2010 identified approximately 250 BOR patients in Japan. Three causative genes for BOR syndrome have been reported thus far: EYA1, SIX1, and SIX5, but the causative genes for approximately half of all BOR patients remain unknown. This review article discusses the epidemiology, clinical symptoms, genetic background and management of BOR syndrome. © 2014 Japan Pediatric Society.

  5. Tubulointerstitial Nephritis Complicated by Fanconi Syndrome and Renal Tubular Acidosis Associated with three autoimmune diseases

    OpenAIRE

    Io, Kumiko; Obata, Yoko; Nishino, Tomoya; Hirose, Misaki; Yamashita, Hiroshi; Uramatsu, Tadashi; Ichikawa, Tatsuki; Hayashi, Tomayoshi; Kawakami, Atsushi; Taguchi, Takashi; Kohno, Shigeru

    2013-01-01

    A 45-year-old woman experiencing back pain showed signs of metabolic acidosis and electrolyte imbalances. The results of blood and urine tests indicated Fanconi syndrome and renal tubular acidosis. An x-ray showed vertebral fractures, which were thought to responsible for the back pain. In addition, the patient had proteinuria and renal dysfunction; therefore, renal biopsy was performed, and tubulointerstitial nephritis (TIN) was diagnosed. While investigating TIN, primary biliary cirrhosis a...

  6. Branchio-oto-renal syndrome caused by partial EYA1 deletion due to LINE-1 insertion

    DEFF Research Database (Denmark)

    Morisada, Naoya; Rendtorff, Nanna Dahl; Nozu, Kandai

    2010-01-01

    A 7-year-old Japanese girl with conductive deafness and preauricular fistulae developed proteinuria. She had renal insufficiency, and ultrasound revealed bilateral small kidneys. These findings indicated that she had branchio-oto-renal (BOR) syndrome. In the present patient, we identified, by using...

  7. Post-partum bilateral renal cortical necrosis in antiphospholipid syndrome and systemic lupus erythematosus

    Directory of Open Access Journals (Sweden)

    Venkat Sainaresh Vellanki

    2013-01-01

    Full Text Available In the presence of systemic lupus erythematosus or related autoimmune disorders, antiphospholipid syndrome (APS is termed secondary APS. Pregnancy-related renal failure due to SAPS is rarely reported in the literature. We present the case of a young primgravida woman with bilateral renal cortical necrosis due to secondary APS in late pregnancy.

  8. Renal failure in a patient with postpolio syndrome and a normal creatinine level.

    Science.gov (United States)

    Leming, Melissa K; Breyer, Michael J

    2012-01-01

    Patients with renal failure who are taking trimethoprim have an increased risk of developing hyperkalemia, which can cause muscle weakness. In patients with postpolio syndrome, a normal creatinine level could be abnormally high, renal failure is possible because of lack of creatinine production, and the muscle weakness from resultant hyperkalemia could be more severe because of their underlying condition. This abnormally high creatinine level has been termed from this point relative renal failure. The objective of the study was to review a case in which relative renal failure and hyperkalemia caused muscle weakness that manifested as shortness of breath and confusion with electrocardiographic changes. A dehydrated patient with relative renal failure and postpolio syndrome had taken trimethoprim-sulfamethoxazole that caused symptomatic hyperkalemia. The patient presented with muscle weakness, shortness of breath, and confusion, with her postpolio syndrome compounding the situation and likely making the muscle weakness more severe. A patient on trimethoprim with renal failure is at an increased risk of developing hyperkalemia. Patients with postpolio syndrome could have severe muscle weakness from the hyperkalemia and could have renal failure even with a normal creatinine level. This case report will remind treating physicians to evaluate such patients for hyperkalemia if they present with muscle weakness, especially if the patient has renal failure and is on trimethoprim.

  9. 肾综合征出血热中枢神经系统损害168例回顾性分析%Retrospective analysis of 168 cases of patients with hemorrhagic fever and renal syndrome erupts simultaneously central nervous system damage

    Institute of Scientific and Technical Information of China (English)

    吕国良; 于渤; 包叔平; 周文兴

    2013-01-01

    目的 探讨肾综合征出血热患者并发中枢神经系统损害的临床特点.方法 回顾性分析1998 ~ 2010年间于辽宁医学院附属第一医院住院治疗,并发中枢神经系统损害的肾综合征出血热患者168例.结果 并发中枢神经系统损害的肾综合征出血热患者可出现意识障碍、癫痫发作、脑膜刺激征阳性、精神失常等多种临床表现.轻、中、重及危重型患者均可出现中枢神经系统损害,重型及危重型患者分别占42.9%和38.7%.此外,各年龄段均可出现中枢神经系统损害,其中60岁以上的老年人所占比例高达51.8%.虽经积极的内科综合治疗,其病死率仍高达31.0%.结论 合并中枢神经系统损害的肾综合征出血热患者病情重,病死率高,一旦出现,需引起足够重视.%Objective To study the clinical characteristics of patients and hemorrhagic fever and renal syndrome ( HFRS) eruptssimultaneously central nervous system damage. Methods Clinical data of 168 HFRS patients erupted simultaneously central nervous system damage and hospitalized in first affiliated hospital of Liaoning medical university from 1998 to 2010 were analyzed. Results Many clinical manifestations including disturbance of consciousness, seizures, positive signs of meningeal irritation and psychiatric disorders could be occurred. Central nervous system damage can occur in slight, medium, serious and clinical HFRS patients; in addition, serious and critical types occupied the main incidence, which were 42. 9% and 38. 7% respectively. All ages of HFRS patients have the risk of suffering central nervous system damage; Percentage of people older than 60 years was up to 51.8%. Mortality remained as high as 31.0% even after active internal medical treatment. Conclusion High mortality and critical condition always appeared in patients of HFRS erupts simultaneously central nervous system damage on which should be paid more attention in clinical work.

  10. 非线性自回归神经网络在肾综合征出血热流行趋势预测中的应用%Application of nonlinear autoregressive neural network in predicting incidence tendency of hemorrhagic fever with renal syndrome

    Institute of Scientific and Technical Information of China (English)

    吴伟; 安淑一; 郭军巧; 关鹏; 任仰武; 夏玲姿; 周宝森

    2015-01-01

    目的 探讨非线性自回归(NAR)神经网络拟合及预测我国HFRS流行趋势的应用.方法 使用2004-2013年全国HFRS月报告发病数序列建立ARIMA模型和NAR神经网络模型,预测2014年HFRS月发病数,并比较两模型的拟合和预测效果.结果 对于拟合集,ARIMA模型的平均绝对误差(MAE)、均方误差平方根(RMSE)和平均绝对误差百分比(MAPE)分别为148.058、272.077和12.678%,NAR神经网络分别为119.436、186.671和11.778%;对于预测集,ARIMA模型的MAE、RMSE和MAPE分别为189.088、221.133和21.296%,NAR神经网络分别为119.733、151.329和11.431%.结论 NAR神经网络对于全国HFRS流行趋势拟合及预测效果优于传统的ARIMA模型,具有良好推广应用价值.%Objective To explore the prospect of nonlinear autoregressive neural network in fitting and predicting the incidence tendency of hemorrhagic fever with renal syndrome (HFRS),in the mainland of China.Methods Monthly reported case series of HFRS in China from 2004 to 2013 were used to build both ARIMA and NAR neural network models,in order to predict the monthly incidence of HFRS in China in 2014.Fitness and prediction on the effects of these two models were compared.Results For the Fitting dataset,MAE,RMSE and MAPE of the ARIMA model were 148.058,272.077 and 12.678% respectively,while the MAE,RMSE and MAPE of NAR neural network appeared as 119.436,186.671 and 11.778% respectively.For the Predicting dataset,MAE,RMSE and MAPE of the ARIMA model appeared as 189.088,221.133 and 21.296%,while the MAE,RMSE and MAPE of the NAR neural network as 119.733,151.329 and 11.431% respectively.Conclusion The NAR neural network showed better effects in fitting and predicting the incidence tendency of HFRS than using the traditional ARIMA model,in China.NAR neural network seemed to have strong application value in the prevention and control of HFRS.

  11. Prenatal diagnosis and follow-up of a case of branchio-oto-renal syndrome displays renal growth impairment after the second trimester.

    Science.gov (United States)

    Bertucci, Emma; Mazza, Vincenzo; Lugli, Licia; Ferrari, Fabrizio; Stanghellini, Ilaria; Percesepe, Antonio

    2015-11-01

    Branchio-oto-renal syndrome combines branchial arch defects, hearing impairment and renal malformations or hypoplasia. Due to the high phenotypic variability, prenatal diagnosis has a limited prognostic value in mutation-positive cases. We report the first branchio-oto-renal syndrome molecular prenatal diagnosis and ultrasonographic follow-up, showing a normal renal growth until the 24th week of pregnancy, a growth deceleration during the third trimester and a renal volume recovery during the first months of life. © 2015 Japan Society of Obstetrics and Gynecology.

  12. Preventing acute renal failure is crucial during acute tumor lysis syndrome

    Directory of Open Access Journals (Sweden)

    Darmon Michael

    2007-01-01

    Full Text Available Tumour Lysis syndrome (TLS is characterized by the massive destruction of tumoral cells and the release in the extracellular space of their content. While TLS may occur spontaneously before treatment, it usually develops shortly after the initiation of cytotoxic chemotherapy. These metabolites can overwhelm the homeostatic mechanisms and cause hyperuricemia, hyperkalemia, hyperphosphatemia and hypocalcemia. Moreover, TLS may lead to an acute renal failure (ARF. In addition to the hospital mortality induced by the acute renal failure itself, development of an ARF may preclude optimal cancer treatment. Therefore, prevention of the acute renal failure during acute tumor lysis syndrome is mandatory. The objective of this review is to describe pathophysiological mechanisms leading to acute tumor lysis syndrome, clinical and biological consequences of this syndrome and to provide up-to-date guidelines to ensure prevention and prompt management of this syndrome.

  13. 河南省2010年肾综合征出血热时间和空间聚集性分析%Analysis of temporal and spatial clustering of hemorrhagic fever with renal syndrome cases in Henan Province in 2010

    Institute of Scientific and Technical Information of China (English)

    王海峰; 尤爱国

    2011-01-01

    目的 对河南省2010年肾综合征出血热病例时间和空间聚集性进行分析.方法 对河南省2010年肾综合征出血热病例日分布数和县区层面分布数据按发病数进行归类整理,利用Poisson分布与负二项分布原理对其进行拟合与检验.其中负二项分布聚集性参数k采用最大似然法估算.结果 时间分布与理论分布的拟合,Poisson分布x2 =51.251 9,P<0.05;负二项分布聚集性参数k=0.561 3,x2 =0.414 3,P>0.05;空间分布与理论分布的拟合,Poisson分布x2=67.1213,P<0.05;负二项分布聚集性参数k=0.845 5,x2=7.254 3,P>0.05.结论 河南省2010年肾综合征出血热病例时间和空间分布均服从负二项分布,具有时间和空间聚集性.%The purpose was to analyse the temporal and spatial clustering of hemorrhagic fever with renal syndrome (HFRS)cases in Henan Province in 2010. The HFRS data in day and county levels in Henan Province in 2010 was sorted and fitted by Poisson distribution and negative binomial distribution. The clustering parameter k was calculated by maximum likeli-hook method. In the fitting of temporal distribution and theoretical distribution, the x2 value of Poisson distribution was 51. 251 9 (P0. 05). In the fitting of spatial dis-tribution and theoretical distribution, the x2 value of Poisson distribution was 67. 121 3 (P0. 05). The temporal and spatial distribution of HFRS cases in day level and county level fitted negative binomial distribution and presented the temporal and spatial clustering in Henan Province in 2010.

  14. Pathophysiology of the cardio-renal syndromes types 1-5: An uptodate.

    Science.gov (United States)

    Di Lullo, L; Bellasi, A; Barbera, V; Russo, D; Russo, L; Di Iorio, B; Cozzolino, M; Ronco, C

    According to the recent definition proposed by the Consensus conference on Acute Dialysis Quality Initiative Group, the term cardio-renal syndrome (CRS) has been used to define different clinical conditions in which heart and kidney dysfunction overlap. Type 1 CRS (acute cardio- renal syndrome) is characterized by acute worsening of cardiac function leading to AKI (5, 6) in the setting of active cardiac disease such as ADHF, while type - 2 CRS occurs in a setting of chronic heart disease. Type 3 CRS is closely link to acute kidney injury (AKI), while type 4 represent cardiovascular involvement in chronic kidney disese (CKD) patients. Type 5 CRS represent cardiac and renal involvement in several diseases such as sepsis, hepato - renal syndrome and immune - mediated diseases. Copyright © 2017 Cardiological Society of India. Published by Elsevier B.V. All rights reserved.

  15. Analyis of changes in the serum concentration of cystatin c, creatinine and renal neutrophil gelatinase-associated lipocalin in patients with hemorrhagic fever with renal syndrome

    Directory of Open Access Journals (Sweden)

    E. M. Mingazova

    2015-01-01

    Full Text Available Introduction. Acute kidney injury is a frequent complication of hemorrhagic fever with renal syndrome. The objective evaluation of аcute kidney injury severity degree is significant in determining the amount of medical actions at hemorrhagic fever with renal syndrome.Objective. Тhe shifts of acute kidney injury biomarkers’ levels (urine neutrophil gelatinase-associated lipocalin, serum cystatin C and serum creatinine at different periods of hemorrhagic fever with renal syndrome were evaluated.Methods. Depending to hemorrhagic fever with renal syndrome severity the patients were divided into groups with severe (n=16 and moderate form of hemorrhagic fever with renal syndrome (n=10; the control group included 10 healthy individuals. The levels of biomarkers were measured by ELISA.Results. Тhe serum concentration of creatinine and cystatin C – markers of glomerular pathology – increased significantly in hemorrhagic fever with renal syndrome, peaking at oligouric period; while changes of cystatin C were more rapid. Urine neutrophil gelatinase-associated lipocalin level – marker of renal tubular damage – increased 30 to 96 times compared to the control group in fever period of hemorrhagic fever with renal syndrome and gradually decreased thereafter.Conclusion. Тhe use of modern biochemical markers of renal pathology (sCystatin C, urine neutrophil gelatinaseassociated lipocalin in hemorrhagic fever with renal syndrome, along with traditional indicators, allows a more differentiated approach to the assessment of renal pathology and gives additional evidence to highlight stage and severity of the disease.

  16. Anatomic and Quantitative Temporal Bone CT for Preoperative Assessment of Branchio-Oto-Renal Syndrome.

    Science.gov (United States)

    Ginat, D T; Ferro, L; Gluth, M B

    2016-12-01

    We describe the temporal bone computed tomography (CT) findings of an unusual case of branchio-oto-renal syndrome with ectopic ossicles that are partially located in the middle cranial fossa. We also describe quantitative temporal bone CT assessment pertaining to cochlear implantation in the setting of anomalous cochlear anatomy associated with this syndrome.

  17. Compartment syndrome, rhabdomyolysis and risk of acute renal failure as complications of the lithotomy position.

    NARCIS (Netherlands)

    Bocca, G.; Moorselaar, R.J.A. van; Feitz, W.F.J.; Staak, F.H.J.M. van der; Monnens, L.A.H.

    2002-01-01

    Compartment syndrome, rhabdomyolysis and the risk of acute renal failure are potential complications of the lithotomy position. A six-year-old girl is described who developed a compartment syndrome with rhabdomyolysis after prolonged surgery in the lithotomy position. This complication occurred thre

  18. Compartment syndrome, rhabdomyolysis and risk of acute renal failure as complications of the lithotomy position.

    NARCIS (Netherlands)

    Bocca, G.; Moorselaar, R.J.A. van; Feitz, W.F.J.; Staak, F.H.J.M. van der; Monnens, L.A.H.

    2002-01-01

    Compartment syndrome, rhabdomyolysis and the risk of acute renal failure are potential complications of the lithotomy position. A six-year-old girl is described who developed a compartment syndrome with rhabdomyolysis after prolonged surgery in the lithotomy position. This complication occurred

  19. Recurrence of hemolytic uremic syndrome after renal transplantation.

    Science.gov (United States)

    Seitz, B; Albano, L; Vocila, F; Mzoughi, S; Aoudia, R; Guitard, J; Ribes, D; Vachet-Copponat, H; Mourad, G; Bienaimé, F; Dahan, P; Frémeaux-Bacchi, V; Cassuto, E

    2007-10-01

    Non-Shiga toxin-associated hemolytic uremic syndrome (non-Stx-HUS) is a rare disease. The clinical outcome is often unfavorable: 50% of patients progress to end-stage renal failure. Several mutations in complement regulatory genes predispose to non-Stx-HUS. Transplantation outcomes are poor among patients with either mutation in the genes encoding complement H or I factors, with 80% graft loss due to HUS recurrence. In contrast, patients with mutation in the gene encoding MCP have no disease relapse after transplantation. There are no treatment guidelines for non-Stx-HUS recurrence. Herein we have presented 8 patients with non-Stx-HUS recurrence after transplantation during the last 10 years in the South of France. HUS recurrence, which occurred early after transplantation in all but 1 patient, was treated by plasma exchange (PE) with substitution by fresh frozen plasma (FFP). Three patients still treated with long-term plasma therapy have no recurrence at 15, 19, or 24 months. An international registry would help to define new guidelines.

  20. The syndrome of renal tubular acidosis with nerve deafness.

    Science.gov (United States)

    Donckerwolcke, R A; Van Biervliet, J P; Koorevaar, G; Kuijten, R H; Van Stekelenburg, G J

    1976-01-01

    Two brothers with renal tubular acidosis and nerve deafness are described. Studies of the physiopathological characteristics of the renal acidification defect show that the defect is limited to the distal tubule. Renal tubular acidosis with nerve deafness is a distinct nosologic entity that is determined by an autosomal recessive trait.

  1. Syndrome of inappropriate antidiuretic hormone secretion and cerebral/renal salt wasting syndrome: similarities and differences.

    Science.gov (United States)

    Oh, Ji Young; Shin, Jae Il

    2014-01-01

    Hyponatremia (sodium levels of cerebral edema and brain herniation; therefore, prompt diagnosis and proper treatment is important in preventing morbidity and mortality. Among various causes of hyponatremia, diagnosing syndrome of inappropriate antidiuretic hormone secretion (SIADH) and cerebral/renal salt wasting syndrome (C/RSW) is difficult due to many similarities. SIADH is caused by excess of renal water reabsorption through inappropriate antidiuretic hormone secretion, and fluid restriction is the treatment of choice. On the other hand, C/RSW is caused by natriuresis, which is followed by volume depletion and negative sodium balance and replacement of water and sodium is the mainstay of treatment. Determinating volume status in hyponatremic patients is the key point in differential between SIADH and C/RSW. However, in most situations, differential diagnosis of these two diseases is difficult because they overlap in many clinical and laboratory aspects, especially to assess differences in volume status of these patients. Although distinction between the SIADH and C/RSW is difficult, improvement of hypouricemia and an increased fractional excretion of uric acid after the correction of hyponatremia in SIADH, not in C/RSW, may be one of the helpful points in discriminating the two diseases. In this review, we compare these two diseases regarding the pathophysiologic mechanisms, diagnosis, and therapeutic point of view.

  2. DETERMINATION OF URINE TUMOR NECROSIS FACTOR, IL-6, IL-8 AND SERUM IL-6 IN PATIENTS WITH HEMORRHAGIC FEVERS WITH RENAL SYNDROME

    Institute of Scientific and Technical Information of China (English)

    2006-01-01

    Recent studies have shown that i mmunomodu-lation abnor mities have a significant role in hemor-rhagic fever withrenal syndrome(HFRS).The hy-perfunction of humoral i mmune response will causeexcessive generation of antigen-antibody complexes,leading to secondary i mmune reaction.It will alsocause hypofunction of sti muli,increase in CD8T+cells and cellular i mmunomodulation dysfunc-tion[1-3].Using ELISA,we detected the dynamicchange of the concentrations of seruminterleukin-6(IL-6),urine tumor necrosis fact...

  3. An adolescent with 48,xxyy syndrome with hypergonadotrophic hypogonadism, attention deficit hyperactive disorder and renal malformations

    Directory of Open Access Journals (Sweden)

    Prasad Katulanda

    2012-01-01

    Full Text Available 48,XXYY is a rare sex chromosome aneuploidy affecting 1 in 18,000 to 50,000 male births. They present with developmental delay, hypogonadism, gynecomastia, intention tremors, and a spectrum of neurodevelopmental and psychiatric disorders. At one time this condition was considered a variant of Klinefelter syndrome. In clinically suspected cases, 48,XXYY syndrome can be diagnosed by chromosome culture and karyotyping. This patient presented with hypergonadotrophic hypogonadism, attention deficit hyperactive disorder, and renal malformatons. Klinefelter syndrome was clinically suspected. The karyotype confirmed the diagnosis of 48,XXYY syndrome. This is the first reported case of 48,XXYY syndrome from Sri Lanka.

  4. An adolescent with 48,XXYY syndrome with hypergonadotrophic hypogonadism, attention deficit hyperactive disorder and renal malformations.

    Science.gov (United States)

    Katulanda, Prasad; Rajapakse, J Rasika D K; Kariyawasam, Jayani; Jayasekara, Rohan; Dissanayake, Vajira H W

    2012-09-01

    48,XXYY is a rare sex chromosome aneuploidy affecting 1 in 18,000 to 50,000 male births. They present with developmental delay, hypogonadism, gynecomastia, intention tremors, and a spectrum of neurodevelopmental and psychiatric disorders. At one time this condition was considered a variant of Klinefelter syndrome. In clinically suspected cases, 48,XXYY syndrome can be diagnosed by chromosome culture and karyotyping. This patient presented with hypergonadotrophic hypogonadism, attention deficit hyperactive disorder, and renal malformatons. Klinefelter syndrome was clinically suspected. The karyotype confirmed the diagnosis of 48,XXYY syndrome. This is the first reported case of 48,XXYY syndrome from Sri Lanka.

  5. A Case of Pulmonary-Renal Syndrome Leading to the Diagnosis of Legionnaires' Disease.

    Science.gov (United States)

    Sabani, Erasmia; Sarafidis, Pantelis A; Lazaridis, Antonios; Kouloukourgiotou, Theodora; Stylianou, Konstantinos; Pantzaki, Afroditi; Papagianni, Aikaterini; Efstratiadis, Georgios

    2016-01-01

    We report a case of a 51-year-old Caucasian man referred at our department due to acute renal failure (ARF) complicating respiratory failure during hospitalization in a regional hospital. The patient was previously started on steroids due to the suspicion of rapidly progressive glomerulonephritis (RPGN) in the context of Goodpasture syndrome. However, clinical and laboratory findings did not support this diagnosis; instead a careful evaluation limited differential diagnosis of the renal insult to acute tubular necrosis or acute interstitial nephritis (AIN) following respiratory infection. With lung function fully improved but renal function not recovering, a renal biopsy revealed AIN, a finding leading to further diagnostic testing and finally to the diagnosis of Legionnaires' disease as a cause of this patient's pulmonary-renal syndrome. The management consisted of progressive tapering of oral steroids associated with full recovery of the patient's renal function. This is a rare case of Legionnaires' disease causing immune-mediated AIN and highlights the possibility of Legionella infection as a cause of pulmonary-renal syndrome.

  6. A Case of Pulmonary-Renal Syndrome Leading to the Diagnosis of Legionnaires’ Disease

    Directory of Open Access Journals (Sweden)

    Erasmia Sabani

    2016-01-01

    Full Text Available We report a case of a 51-year-old Caucasian man referred at our department due to acute renal failure (ARF complicating respiratory failure during hospitalization in a regional hospital. The patient was previously started on steroids due to the suspicion of rapidly progressive glomerulonephritis (RPGN in the context of Goodpasture syndrome. However, clinical and laboratory findings did not support this diagnosis; instead a careful evaluation limited differential diagnosis of the renal insult to acute tubular necrosis or acute interstitial nephritis (AIN following respiratory infection. With lung function fully improved but renal function not recovering, a renal biopsy revealed AIN, a finding leading to further diagnostic testing and finally to the diagnosis of Legionnaires’ disease as a cause of this patient’s pulmonary-renal syndrome. The management consisted of progressive tapering of oral steroids associated with full recovery of the patient’s renal function. This is a rare case of Legionnaires’ disease causing immune-mediated AIN and highlights the possibility of Legionella infection as a cause of pulmonary-renal syndrome.

  7. Medullary nephrocalcinosis, distal renal tubular acidosis and polycythaemia in a patient with nephrotic syndrome

    Directory of Open Access Journals (Sweden)

    Karunarathne Suneth

    2012-07-01

    Full Text Available Abstract Background Medullary nephrocalcinosis and distal renal tubular acidosis are closely associated and each can lead to the other. These clinical entities are rare in patients with nephrotic syndrome and polycythaemia is an unusual finding in such patients. We describe the presence of medullary nephrocalcinosis, distal renal tubular acidosis and polycythaemia in a patient with nephrotic syndrome due to minimal change disease. Proposed mechanisms of polycythaemia in patients with nephrotic syndrome and distal renal tubular acidosis include, increased erythropoietin production and secretion of interleukin 8 which in turn stimulate erythropoiesis. Case presentation A 22 year old Sri Lankan Sinhala male with nephrotic syndrome due to minimal change disease was investigated for incidentally detected polycythaemia. Investigations revealed the presence of renal tubular acidosis type I and medullary nephrocalcinosis. Despite extensive investigation, a definite cause for polycythaemia was not found in this patient. Treatment with potassium and bicarbonate supplementation with potassium citrate led to correction of acidosis thereby avoiding the progression of nephrocalcinosis and harmful effects of chronic acidosis. Conclusion The constellation of clinical and biochemical findings in this patient is unique but the pathogenesis of erythrocytosis is not clearly explained. The proposed mechanisms for erythrocytosis in other patients with proteinuria include increased erythropoietin secretion due to renal hypoxia and increased secretion of interleukin 8 from the kidney. This case illustrates that there may exist hitherto unknown connections between tubular and glomerular dysfunction in patients with nephrotic syndrome.

  8. [The pulmonary-renal syndrome: a diagnostic and therapeutic emergency for the internist and the intensivist].

    Science.gov (United States)

    Hié, M; Costedoat-Chalumeau, N; Saadoun, D; Azoulay, E

    2013-11-01

    The pulmonary-renal syndrome is a rare and life-threatening condition. It is defined as the association of a diffuse alveolar hemorrhage and a rapidly progressive glomerulonephritis. The characteristic histological lesion common to all underlying diseases is a necrotizing and crescentic glomerulonephritis. The pulmonary-renal syndrome is a diagnostic and therapeutic emergency: any delay in its management will lead to death or serious functional damage as pulmonary and renal impairment. ANCA-associated vasculitis and Goodpasture's disease are the main disorders associated to pulmonary-renal syndrome. More rarely systemic lupus, cryoglobulinaemia, Henoch-Schonlein purpura or subacute endocarditis may induce a pulmonary-renal syndrome. Differential diagnosis can sometimes be difficult, highlighting some ambiguity in the definition of the syndrome. Initial treatment usually associates systemic corticosteroid, cyclophosphamide and plasma exchange. The role of biotherapy as first line therapy remains to be determined. Copyright © 2013 Société nationale française de médecine interne (SNFMI). Published by Elsevier SAS. All rights reserved.

  9. Severe Renal Hemorrhage in a Pregnant Woman Complicated with Antiphospholipid Syndrome: A Case Report

    Directory of Open Access Journals (Sweden)

    Shohei Kawaguchi

    2011-01-01

    Full Text Available Antiphospholipid syndrome is a systemic autoimmune disease with thrombotic tendency. Consensus guidelines for pregnancy with antiphospholipid syndrome recommend low-dose aspirin combined with unfractionated or low-molecular-weight heparin because antiphospholipid syndrome causes habitual abortion. We report a 36-year-old pregnant woman diagnosed with antiphospholipid syndrome receiving anticoagulation treatment. The patient developed left abdominal pain and gross hematuria at week 20 of pregnancy. An initial diagnosis of left ureteral calculus was made. Subsequently abdominal-pelvic computed tomography was required for diagnosis because of the appearance of severe contralateral pain. Computed tomography revealed serious renal hemorrhage, and ureteral stent placement and pain control by patient-controlled analgesia were required. After treatment, continuance of pregnancy was possible and vaginal delivery was performed safely. This is the first case report of serious renal hemorrhage in a pregnant woman with antiphospholipid syndrome receiving anticoagulation treatment and is an instructive case for urological and obstetrical practitioners.

  10. Developmental Abnormalities, Blood Pressure Variability and Renal Disease In Riley Day Syndrome

    OpenAIRE

    Norcliffe-Kaufmann, Lucy; Axelrod, Felicia B.; Kaufmann, Horacio

    2011-01-01

    Riley Day syndrome, commonly referred to as familial dysautonomia (FD), is a genetic disease with extremely labile blood pressure due to baroreflex deafferenation. Chronic renal disease is very frequent in these patients and was attributed to recurrent arterial hypotension and renal hypoperfusion. Aggressive treatment of hypotension, however, has not reduced its prevalence. We evaluated the frequency of kidney malformations as well as the impact of hypertension, hypotension and blood pressure...

  11. RENOVASCULAR HYPERTENSION DUE TO RENAL ARTERY STENOSIS IN KLIPPEL-FEIL SYNDROME

    OpenAIRE

    Foyaca-Sibat H. MD.; Ibañez-Valdés LdeF. MD,

    2003-01-01

    ABSTRACT We report one patient with Klippel-Feil (KFS) syndrome, other associated anomalies, uncontrolled arterial hypertension, and renal artery stenosis. Because this patient underwent for surgical revascularization with unsuccessful result, all proposed way of treatments are revised, and we have hypothesized that probably for patients with KFS and unilateral renal artery stenosis, medical treatment with ACE inhibitors can provide more benefits than surgical revascularization or percutan...

  12. Implications of Von Hippel-Lindau Syndrome and Renal Cell Carcinoma

    Science.gov (United States)

    Ashouri, Kenan; Mohseni, Sophia; Tourtelot, John; Sharma, Pranav

    2015-01-01

    Von Hippel-Lindau syndrome (VHLS) is a rare hereditary neoplastic disorder caused by mutations in the vhl gene leading to the development of tumors in several organs including the central nervous system, pancreas, kidneys, and reproductive organs. Manifestations of VHLS can present at different ages based on the affected organ and subclass of disease. In the subclasses of VHLS that cause renal disease, renal involvement typically begins closer to the end of the second decade of life and can present in different ways ranging from simple cystic lesions to solid tumors. Mutations in vhl are most often associated with clear cell renal carcinoma, the most common type of renal cancer, and also play a major role in sporadic cases of clear cell renal carcinoma. The recurrent, multifocal nature of this disease presents difficult challenges in the long-term management of patients with VHLS. Optimization of renal function warrants the use of several different approaches common to the management of renal carcinoma such as nephron sparing surgery, enucleation, ablation, and targeted therapies. In VHLS, renal lesions of 3 cm or bigger are considered to have metastatic potential and even small lesions often harbor malignancy. Many of the aspects of management revolve around optimizing both oncologic outcome and long-term renal function. As new surgical strategies and targeted therapies develop, the management of this complex disease evolves. This review will discuss the key aspects of the current management of VHLS.

  13. Implications of Von Hippel-Lindau Syndrome and Renal Cell Carcinoma

    Directory of Open Access Journals (Sweden)

    Kenan Ashouri

    2015-09-01

    Full Text Available Von Hippel-Lindau syndrome (VHLS is a rare hereditary neoplastic disorder caused by mutations in the vhl gene leading to the development of tumors in several organs including the central nervous system, pancreas, kidneys, and reproductive organs. Manifestations of VHLS can present at different ages based on the affected organ and subclass of disease. In the subclasses of VHLS that cause renal disease, renal involvement typically begins closer to the end of the second decade of life and can present in different ways ranging from simple cystic lesions to solid tumors. Mutations in vhl are most often associated with clear cell renal carcinoma, the most common type of renal cancer, and also play a major role in sporadic cases of clear cell renal carcinoma. The recurrent, multifocal nature of this disease presents difficult challenges in the long-term management of patients with VHLS. Optimization of renal function warrants the use of several different approaches common to the management of renal carcinoma such as nephron sparing surgery, enucleation, ablation, and targeted therapies. In VHLS, renal lesions of 3 cm or bigger are considered to have metastatic potential and even small lesions often harbor malignancy. Many of the aspects of management revolve around optimizing both oncologic outcome and long-term renal function. As new surgical strategies and targeted therapies develop, the management of this complex disease evolves.  This review will discuss the key aspects of the current management of VHLS.

  14. Renal manifestations of severe Rabson-Mendenhall syndrome: a case report

    Directory of Open Access Journals (Sweden)

    Chong Yih Harng

    2013-01-01

    Full Text Available Abstract Introduction Rabson-Mendenhall Syndrome (RMS is a rare form of severe insulin resistance due to a recessive mutation of the insulin receptor. Associated manifestations include facial dysmorphism, skin abnormalities, and renal anomalies. Case presentation We report a case of a 13 year old African female with RMS, severe insulin resistance, and a cluster of renal pathologies including nephromegaly, nephrolithiasis, hydronephrosis, and medullary sponge kidney. Conclusion This is the first case of severe insulin resistance associated with the collection of renal conditions described. We postulate that renal conditions present in RMS may be under recognised, and recommend screening for the above conditions. This case adds to the scarce body of literature of associated renal manifestations with RMS, including medullary sponge kidney, across the spectrum of insulin resistance.

  15. POEMS syndrome with vascular lesions and renal carcinoma - possible role of cytokines.

    Science.gov (United States)

    Pasqui, A L; Bova, G; Saletti, M; Bruni, F; Di Renzo, M; Auteri, A

    1998-06-17

    We describe here the case of a 60 years man with POEMS syndrome associated with renal tumor and vascular lesions. The patient had osteosclerotic myeloma IgA-lambda, polyneuropathy, endocrinopathy and skin changes. In addition, he developed renal clear cell carcinoma and gangrena of lower limbs. The humoral study showed thrombocytosis, high levels of IL-1beta and IL-6 and of some coagulative/fibrinolytic and endothelial factors (von Willebrand factor, plasmin-antiplasmine complexes, plasminogen activator). We suggest the hypothesis that these factors are capable of determining some manifestations of POEMS syndrome.

  16. [Renal cell carcinoma in patient with situs inversus and Kartagener syndrome].

    Science.gov (United States)

    Jiménez Verdejo, A; Martínez Torres, J L; Palao Yago, F; Tinaut Ranera, J; Arrabal Martín, M; Miján Ortiz, J L; Zuluaga Gómez, A

    2000-02-01

    A case of a adenocarcinoma renal in a patient with situs inversus complete to which was associated bronchiectasis and chronic sinusitis (kartagener's syndrome) is reported. It is the third case described in the international literature of a renal cells carcinoma in a patient with situs inversus totalis and the first in patient the one which has the triada classic of the kartagener's syndrome plus sterility. The tumor was discovered in a way incidental upon accomplishing a TAC toracoabdominal and was solved through nefrectomia for lumbotomy approach.

  17. Primary antiphospholipid syndrome presenting as renal vein thrombosis and membranous nephropathy.

    Science.gov (United States)

    Chaturvedi, Swasti; Brandao, Leonardo; Geary, Denis; Licht, Christoph

    2011-06-01

    Antiphospholipid syndrome is a multisystem auto-immune disorder characterized by thrombotic events and the presence of circulating antiphospholipid antibodies. Large vessel involvement in the form of thrombosis/stenosis and thrombotic microangiopathy is a commonly described renal finding. However, non-thrombotic glomerulopathies are increasingly being recognized in patients with antiphospholipid syndrome. We report a rare occurrence of both renal vein thrombosis and membranous nephropathy in a previously healthy adolescent male. Investigations revealed persistently positive antiphospholipid antibodies in the absence of an underlying systemic autoimmune disorder or malignancy. Our patient responded favourably to anti-proteinuric therapy and anticoagulation with complete resolution of proteinuria and a nearly occlusive thrombus.

  18. New Line of Investigation in Rehabilitation of Patients Suffered from Hemorrhagic Fever with Renal Syndrome

    Directory of Open Access Journals (Sweden)

    G. M. Khasanova

    2011-01-01

    Full Text Available A new educational program for patients suffered from hemorrhagic fever with renal syndrome was worked out and applied into practice for the first time. It was revealed that patient teaching increased patient complianceand improved rehabilitation results for sure. Asthenia symptoms, arterial hypertension and inflammatory processes in uringenital system were recorded more rarely with such patients for certain. The efficiency of this educational program in combined rehabilitation after cases of hemorrhagic fever with renal syndrome proves its advisability of wide application in medical and preventive treatment institutions.

  19. The current epidemic situation and surveillance regarding hemorrhagic fever with renal syndrome in China, 2010%2010年中国肾综合征出血热监测及疫情分析

    Institute of Scientific and Technical Information of China (English)

    黄立勇; 周航; 殷文武; 王芹; 孙辉; 丁凡; 满腾飞; 李群; 冯子健

    2012-01-01

    Objective To analyze the surveillance data on hemorrhagic fever with renal syndrome (HFRS) including the epidemiological characteristics and trend of the disease,in 2010.Methods Descriptive methods were conducted to analyze the surveillance data in 2010 which were collected from the internet-based National Notifiable Disease Reporting System and 40 HFRS sentinels in China.Results There were 9526 cases of HFRS reported in 2010 in the country with an annual morbidity of 0.71/105,which was higher than that reported in 2009.And the case fatality rate in 2010 was 1.24%.During the year 2010,most cases were reported in spring and autumn-winter season,with November as the peak month.The proportion of cases reported in autumn-winter season was higher than that in spring.The number of cases reported in males was higher than that in females among all the age groups,and similar pattern of mortality could be seen in most of the age groups.The percentage of cases over 60 years old had increased in recent years.Farmers were still under the highest risk.Density and the virus-carrying rate of animal hosts,as well as the infection rate were relatively stable and similar to the previous findings.As to the prevailing species,Apodemus agrarius and Rattus norvegicus were still the most common and leading animal hosts.However,the dominant species in sentinel of Yunnan were Rattus flavipectus and Eothenomys miletus respectively,and a new hantavirus called LUXV was found,namely Eothenomys miletus.Conclusion HFRS cases were widely distributed in most provinces of China,but cases mainly focus on certain areas and present the nature of aggregation.The risk of outbreak could not be ruled out for variety of factors.Population characteristics and seasonal fluctuation had been changing.%目的 分析2010年中国肾综合征出血热(HFRS)流行特征和趋势.方法 利用描述性流行病学对2010年中国HFRS病例资料及国家监测点监测资料进行统计分析.结果 2010

  20. [Goodpasture Syndrome: a Rare Cause of Acute Anuric Renal Failure].

    Science.gov (United States)

    Bareiss, Dirk; Hopfer, Helmut; Menter, Thomas; Jehle, Andreas; Burkhalter, Felix

    2016-06-08

    We report a case of a 68 year old male who presented with an acute onset of anuric renal failure. Investigations revealed a histologically confirmed “double-positive” anti-GBM disease with initially undetectably high antibody values. An induction therapy with plasma exchange, cyclophosphamide and initially high dose steroids and further maintenance therapy for three months was initiated. The patient remained dialysis-dependent despite partial recovering of renal function. Without pulmonary involvement there were no clues for Goodpasture’s disease. Renal prognosis is unfavourable.

  1. Genetic characteristics of hantavirus detected from HFRS patients in Shenzhen City%深圳市肾综合征出血热患者汉坦病毒基因特征研究

    Institute of Scientific and Technical Information of China (English)

    阳帆; 张仁利; 黄达娜; 吴春利; 李玥; 唐屹君

    2016-01-01

    目的 研究深圳市引起肾综合征出血热(HFRS)的汉坦病毒主要型别及分子特征,为该市汉坦病毒的防制提供依据.方法 收集各医院送检HFRS患者急性期血清标本,提取血清中病毒RNA作为模板,采用逆转录-套式PCR扩增汉坦病毒基因组M片段G2区基因并进行序列测定,对汉坦病毒进行基因分型和同源性分析.结果 深圳市HFRS病例男性多于女性,患者发病年龄主要集中在20-60岁,其中20-49岁病例数最多,共发病242例,占发病总数的85.82%.从282例标本中用HTN型特异性引物扩增阳性4例,占1.42%;用SEO型特异性引物扩增阳性50例,占17.73%;总阳性率为19.15%.序列比较分析发现,深圳地区流行的SEO型汉坦病毒核苷酸序列的差异相对较小,其基因的离散度为0%-4.9%.从种系发生树看这些病毒分布在一个分支上,均为S2亚型.HTN型汉坦病毒的变异率较高,其基因的离散度为6.7%-21.0%,二例为H7亚型,二例为H9亚型,均为深圳市首次报道.结论 不同年份引起深圳地区HFRS的汉坦病毒仍以SEO型为主,且病毒变异较小,稳定性较高.首次发现HTN型病例存在.结合流行病学调查资料,证实HTN病例均为输入性病例.%Objective To study the genotype and characteristic of hantavirus prevailing in Shenzhen and to provide theoretical basis for controlling hemorrhagic fever with renal syndrome (HFRS).Methods We collected serum specimens from patients at acute stage.Viral RNA was extracted from the sera.The G2 fragments of M segment from hantavirus was amplified with nested RT-PCR by using the Hantavirus genotype specific primers.The amplified genes were then sequenced,and subjected to genotyping and homology analysis with other known hantaviruses.Results In a total of 282 cases of epidemic hemorrhagic fever with renal syndrome in Shenzhen city from 2003 to 2014,the incidence rate in males was higher than that in females.Most of patients were 20-60 years

  2. Successful Salvage of a Renal Allograft after Acute Renal Vein Thrombosis due to May-Thurner Syndrome

    Directory of Open Access Journals (Sweden)

    Omkar U. Vaidya

    2012-01-01

    Full Text Available A 68-year-old Caucasian female with a past medical history of a deceased donor kidney transplant four months prior was admitted with a two-day history of anuria and acute kidney injury. A renal ultrasound demonstrated thrombus in the transplanted kidney's renal vein that extended into the left iliac vein as well as into the left femoral venous system. Catheter-guided tissue thrombolytics were infused directly into the clot. Within twelve hours of initiating thrombolytic infusion, there was brisk urine output. Interval venography demonstrated decreasing clot burden. At the time of discharge her creatinine was 0.78 mg/dL, similar to her baseline value prior to presentation. The patient was noted to have May-Thurner syndrome on intravascular ultrasound (IVUS. Angioplasty followed by stent placement was done. Unique to our case report was the timing of the presentation of renal vein thrombosis (four months after transplant and the predisposing anatomy consistent with May-Thurner syndrome, which was diagnosed with IVUS and successfully treated with local thrombolytics.

  3. Fatal outcome after renal transplant in a pediatric patient with Noonan syndrome.

    Science.gov (United States)

    Araz, Coskun; Kaval, Ebru; Torgay, Adnan; Moray, Gokhan; Haberal, Mehmet

    2015-04-01

    Noonan syndrome is a congenital, common, hereditary disorder. Facial dysmorphism, growth retardation, and various heart defects are typical clinical features. In patients with minor cardiac pathology, life expectancy is normal. We report a case of renal transplant in a pediatric patient with Noonan syndrome that ended with death of the patient. Our patient presented with unexpected and refractory postoperative neurological complications that were unresponsive to intensive therapy, and the patient died because of secondary complications.

  4. Acute renal failure in a patient with Sheehan syndrome and rhabdomyolysis.

    Science.gov (United States)

    Soltani, Parvin; Rezvanfar, Mohammad Reza; Pirasteh, Shadi

    2008-01-01

    We report a case of acute renal failure related to rhabdomyolysis in a patient with Sheehan syndrome, while other diseases that could cause rhabdomyolysis were excluded. The patient's kidney function completely recovered with 3 sessions of intermittent hemodialysis. After thyroxine replacement therapy, musculoskeletal symptoms disappeared and creatine kinase concentrations decreased. Steroid replacement therapy was also administered. The present case suggests that rhabdomyolysis could occur in a patient with Sheehan syndrome without other precipitating factors.

  5. Polycystic Ovary Syndrome: The Correlation Between Renal Doppler Ultrasound and Laboratory Parameters

    Directory of Open Access Journals (Sweden)

    Elif Karadeli

    2014-12-01

    Full Text Available Aim: To investigate whether there is alteration both right and left kidney lenght, parenchymal thickness, renal arterial,venous blood flow measurements in normotensive reproductive age women with polycystic ovary syndrome (PCOS. Material and Method: Forty women with PCOS according to Rotterdam criteria and thirty-six healthy volunteers women were included in our study. Hormonal, biochemical analysis, renal Doppler ultrasonography were performed and were investigated in terms of both left and right renal lenght, parenchymal thickness, peak systolic velocity (PSV, resistive index (RI, venous impedance index (VI, metabolic characteristics having insulin resistance, impaired glucose tolerance, serum lipid concentration. The student t test and pearson corelation test were used for statistical analysis.Results: The measurements for kidneys were not different between women with PCOS and healthy women. The peak systolic velocity of mean renal artery was lower in PCOS group. The mean renal venous impedance also was higher in PCOS group than control group. The mean renal resistive index was slightly higher in PCOS but not statistical significant. In bivariate corelation analyse including all patients, it was seen that BMI, WHR, level of serum fasting glucose, insulin, LDL, trigliserides were positively related with mean renal length and mean parenchymal thickness measurements. Discussion: We found that there was alterations kidney blood flow in normotensive reproductive age women with PCOS. This findings may indicate results of long term renal and cardiovascular complications of PCOS.

  6. Renal thrombotic microangiopathy and FIP1L1/PDGFRα-associated myeloproliferative variant of hypereosinophilic syndrome.

    Science.gov (United States)

    Langlois, Anne Lyse; Shehwaro, Nathalie; Rondet, Claire; Benbrik, Youssef; Maloum, Karim; Gueutin, Victor; Rouvier, Philippe; Izzedine, Hassane

    2013-08-01

    We report a case of renal thrombotic microangiopathy (TMA) in a myeloproliferative variant of hypereosinophilic syndrome (HES) in a 24-year-old man which resolved with imatinib therapy. This is one of a few cases in the literature to date describing TMA in HES, suggesting that the pathogenesis of thrombosis is at least in part related to damage from activated eosinophils.

  7. Renal dysfunction indicative of outcomes in hospitalized patients with takotsubo syndrome.

    Science.gov (United States)

    Ando, Kaoru; Sukekawa, Hiroyasu; Takahata, Aoi; Kobari, Yusuke; Tsuchiya, Hayato; Ishigaki, Daisuke; Tamabuchi, Toshiaki; Koyama, Yo

    2017-06-01

    Left ventricular dysfunction as part of takotsubo syndrome is reversible, and the long-term prognosis appears favorable. However, life-threatening complications are not uncommon during the acute phase, and it remains unclear whether renal dysfunction is a factor in complications suffered by hospitalized patients with takotsubo syndrome. The present study was conducted to investigate the implications of renal dysfunction in this setting. Data from 61 consecutive patients (male, 21; female, 40) diagnosed with takotsubo syndrome at our hospital between years 2010 and 2016 were evaluated retrospectively. In-hospital complications by definition were all-cause deaths and severe pump failure (Killip class ≥III). Overall, 30 patients (49%) developed renal dysfunction. In the 32 patients (52%) who suffered in-hospital complications (mortality, 10; severe pump failure, 22), estimated glomerular filtration rate (eGFR) was significantly lower by comparison (51.3±29.8 vs. 69.5±29.0; p=0.019). Low eGFR (60 ml/min per 1.73m(2)). Renal dysfunction is a simple but useful means of predicting complications in hospitalized patients with takotsubo syndrome, especially those with chronic kidney disease.

  8. Hemorrhagic Fever with Renal Syndrome in 4 US Soldiers, South Korea, 2005

    OpenAIRE

    Song, Jin-Won; Moon, Sung-Sil; Gu, Se Hun; Song, Ki-Joon; Baek, Luck Ju; Kim, Heung Chul; Kijek, Todd; O’Guinn, Monica L.; Lee, John S.; Turell, Michael J.; Klein, Terry A.

    2009-01-01

    Four US soldiers acquired hemorrhagic fever with renal syndrome while training near the Demilitarized Zone, South Korea, in 2005. Hantaan virus sequences were amplified by reverse transcription–PCR from patient serum samples and from lung tissues of striped field mice (Apodemus agrarius) captured at training sites. Epidemiologic investigations specified the ecology of possible sites of patient infection.

  9. The predictive value of mild renal insufficiency on the prognosis of patients with acute coronary syndrome

    Institute of Scientific and Technical Information of China (English)

    张建华

    2014-01-01

    Objective To investigate the predictive value of mild renal insufficiency on the endpoint events in patients with acute coronary syndrome(ACS).Methods A total of 552 patients with ACS were enrolled in the present study.According to the levels of estimated glomerular filtration rate(eGFR),patients were divided into two groups,normal

  10. Cardio-renal syndromes : report from the consensus conference of the Acute Dialysis Quality Initiative

    NARCIS (Netherlands)

    Ronco, Claudio; McCullough, Peter; Anker, Stefan D.; Anand, Inder; Aspromonte, Nadia; Bagshaw, Sean M.; Bellomo, Rinaldo; Berl, Tomas; Bobek, Ilona; Cruz, Dinna N.; Daliento, Luciano; Davenport, Andrew; Haapio, Mikko; Hillege, Hans; House, Andrew A.; Katz, Nevin; Maisel, Alan; Mankad, Sunil; Zanco, Pierluigi; Mebazaa, Alexandre; Palazzuoli, Alberto; Ronco, Federico; Shaw, Andrew; Sheinfeld, Geoff; Soni, Sachin; Vescovo, Giorgio; Zamperetti, Nereo; Ponikowski, Piotr

    2010-01-01

    A consensus conference on cardio-renal syndromes (CRS) was held in Venice Italy, in September 2008 under the auspices of the Acute Dialysis Quality Initiative (ADQI). The following topics were matter of discussion after a systematic literature review and the appraisal of the best available evidence:

  11. Progressive fluctuant hearing loss, enlarged vestibular aqueduct, and cochlear hypoplasia in branchio-oto-renal syndrome.

    NARCIS (Netherlands)

    Kemperman, M.H.; Stinckens, C.I.C.; Kumar, S.; Huygen, P.L.M.; Joosten, F.B.M.; Cremers, C.W.R.J.

    2001-01-01

    OBJECTIVE: To study the results of petrosal bone imaging and audiometric long-term follow-up of two patients with branchio-oto-renal (BOR) syndrome and relate them to the clinical features, including caloric responses. STUDY DESIGN: Longitudinal case study. SETTING: Tertiary referral center. PATIENT

  12. Hypokalemic periodic paralysis in Sjogren's syndrome secondary to distal renal tubular acidosis.

    Science.gov (United States)

    Yılmaz, Hakkı; Kaya, Mustafa; Özbek, Mustafa; ÜUreten, Kemal; Safa Yıldırım, İ

    2013-07-01

    We report a 53-year-old Turkish female presented with progressive weakness and mild dyspnea. Laboratory results demonstrated severe hypokalemia with hyperchloremic metabolic acidosis. The urinary anion gap was positive in the presence of acidemia, thus she was diagnosed with hypokalemic paralysis from a severe distal renal tubular acidosis (RTA). Immunologic work-up showed a strongly positive ANA of 1:3,200 and positive antibodies to SSA and SSB. Schirmer's test was abnormal. Autoimmune and other tests revealed Sjögren syndrome as the underlying cause of the distal renal tubular acidosis. Renal involvement in Sjogren's syndrome (SS) is not uncommon and may precede sicca complaints. The pathology in most cases is a tubulointerstitial nephritis causing among other things, distal RTA, and, rarely, hypokalemic paralysis. Treatment consists of potassium repletion, alkali therapy, and corticosteroids. Primary SS could be a differential in women with acute weakness and hypokalemia.

  13. Acute renal failure: A rare presentation of Sheehan's syndrome.

    Science.gov (United States)

    Bhat, Manzoor A; Laway, Bashir A; Allaqaband, Faheem A; Kotwal, Suman K; Wani, Imtiyaz A; Banday, Khursheed A

    2012-03-01

    Sheehan's syndrome occurs as a result of ischemic pituitary necrosis secondary to severe postpartum bleeding. It is one of the most common causes of hypopituitarism, characterized by variable clinical presentation. Acute kidney injury occurs rarely in Sheehan's syndrome and most of the cases have been found to be precipitated by rhabdomyolysis. We here present a case of Sheehan's syndrome with acute kidney injury where theprecipitating cause was chronic hypocortisolemia. We believe this is the first reported case of Sheehan's syndrome in which acute kidney injury was precipitated by adrenal insufficiency.

  14. Risk Factors for Severe Renal Disease in Bardet-Biedl Syndrome.

    Science.gov (United States)

    Forsythe, Elizabeth; Sparks, Kathryn; Best, Sunayna; Borrows, Sarah; Hoskins, Bethan; Sabir, Ataf; Barrett, Timothy; Williams, Denise; Mohammed, Shehla; Goldsmith, David; Milford, David V; Bockenhauer, Detlef; Foggensteiner, Lukas; Beales, Philip L

    2017-03-01

    Bardet-Biedl syndrome is a rare autosomal recessive, multisystem disease characterized by retinal dystrophy, renal malformation, obesity, intellectual disability, polydactyly, and hypogonadism. Nineteen disease-causing genes (BBS1-19) have been identified, of which mutations in BBS1 are most common in North America and Europe. A hallmark of the disease, renal malformation is heterogeneous and is a cause of morbidity and mortality through the development of CKD. We studied the prevalence and severity of CKD in 350 patients with Bardet-Biedl syndrome-related renal disease attending the United Kingdom national Bardet-Biedl syndrome clinics to further elucidate the phenotype and identify risk indicators of CKD. Overall, 31% of children and 42% of adults had CKD; 6% of children and 8% of adults had stage 4-5 CKD. In children, renal disease was often detected within the first year of life. Analysis of the most commonly mutated disease-associated genes revealed that, compared with two truncating mutations, two missense mutations associated with less severe CKD in adults. Moreover, compared with mutations in BBS10, mutations in BBS1 associated with less severe CKD or lack of CKD in adults. Finally, 51% of patients with available ultrasounds had structural renal abnormalities, and 35% of adults were hypertensive. The presence of structural abnormalities or antihypertensive medication also correlated statistically with stage 3b-5 CKD. This study describes the largest reported cohort of patients with renal disease in Bardet-Biedl syndrome and identifies risk factors to be considered in genetic counseling.

  15. Transient renal Fanconi syndrome in a Chihuahua exposed to Chinese chicken jerky treats.

    Science.gov (United States)

    Hooijberg, E H; Furman, E; Leidinger, J; Brandstetter, D; Hochleithner, C; Sewell, A C; Leidinger, E; Giger, U

    2015-01-01

    Transient Fanconi syndrome without azotemia was diagnosed in a dog and was associated with ingestion of Chinese chicken jerky treats. Fanconi syndrome is a proximal renal tubular defect and a diagnosis was made based upon severe glucosuria with normoglycemia, and severe generalized aminoaciduria. The clinical signs of polyuria and polydipsia as well as the massive urinary metabolic abnormalities resolved after jerky treat withdrawal. While frequently seen in North America and Australia, this is the first report of jerky treat induced Fanconi syndrome in continental Europe. Clinicians should be aware of this potential intoxication and be vigilant for a history of jerky treat consumption in a dog with glucosuria.

  16. A reversible bilateral renal artery stenosis in association with antiphospholipid syndrome.

    Science.gov (United States)

    Remondino, G I; Mysler, E; Pissano, M N; Furattini, M C; Basta, M C; Presas, J L; Allievi, A

    2000-01-01

    We describe a 26-year-old white female with a history of Raynaud phenomenon, erythema nodosum, polyarthralgias, migraine, vertigo, seizures, transient ischemic attacks, one fetal loss, and false positive VDRL, who developed milk hypertension without overt lupus nephritis. She had positive antinuclear antibodies (ANA) and double-stranded deoxyribonucleic acid (dsDNA) antibodies. The lupus anticoagulant test (LAC) and cardiolipins antibodies (aCL) were positive. She was diagnosed as having a Systemic Lupus Erythematosus-like illness (SLE-like) with 'secondary' antiphospholipid syndrome (APS). Renal spiral computed tomography (CT) with intravenous (IV) contrast showed bilateral renal artery stenosis. Anticoagulation with acenocumarol was started. She became normotensive without antihypertensive drugs five months later. A follow-up renal spiral CT showed complete recanalization of both renal arteries, making thrombosis the more likely culprit pathology in the stenosis. After two years follow up the patient is normotensive. She remains on acenocumarol.

  17. A case of neuroleptic malignant syndrome with acute renal failure after the discontinuation of sulpiride and maprotiline.

    Science.gov (United States)

    Kiyatake, I; Yamaji, K; Shirato, I; Kubota, M; Nakayama, S; Tomino, Y; Koide, H

    1991-01-01

    A 46-year-old man developed neuroleptic malignant syndrome with acute myoglobinuric renal failure after the discontinuation of sulpiride and maprotiline treatment. He showed the characteristic features of hyperpyrexia, altered consciousness, muscle rigidity, and autonomic dysfunction. Laboratory data showed lysis of skeletal muscle cells and renal impairment. Muscle biopsy revealed necrosis and regenerative changes in muscle fibers. Renal biopsy showed focal tubulitis and interstitial infiltration of small inflammatory cells. The combination of sulpiride and maprotiline has not previously been reported to be the cause of neuroleptic malignant syndrome and acute myoglobinuric renal failure.

  18. Renal involvement in MELAS syndrome - a series of 5 cases and review of the literature.

    Science.gov (United States)

    Seidowsky, Alexandre; Hoffmann, Maxime; Glowacki, François; Dhaenens, Claire-Marie; Devaux, Jean-Philippe; de Sainte Foy, Celia Lessore; Provot, François; Gheerbrant, Jean-Dominique; Hummel, Aurelie; Hazzan, Marc; Dracon, Michel; Dieux-Coeslier, Anne; Copin, Marie-Christine; Noël, Christian; Buob, David

    2013-12-01

    Renal dysfunction is increasingly recognized as a potential clinical feature of mitochondrial cytopathies such as mitochondrial encephalomyopathy, lacticacidosis and stroke-like episodes (MELAS) syndrome. Five cases of MELAS syndrome with renal involvement from 4 unrelated families are presented in this case series. Three of the 5 patients had a history of maternally-inherited diabetes and/or deafness. Focal and segmental glomerulosclerosis and arteriolar hyaline thickening were the most striking findings on renal biopsy. In addition to clinical presentation with the typical symptoms of MELAS syndrome, genetic testing in these patients identified the A3243G point mutation in the tRNALeu gene of the mitochondrial DNA (mtDNA). The diagnosis of MELAS syndrome was thus considered to be unequivocal. The incidence of kidney disease in MELAS syndrome may be underestimated although a study is required to investigate this hypothesis. As the A3243G mtDNA mutation leads to a progressive adult-onset form of focal segmental glomerulosclerosis (FSGS), screening for the MELAS A3243G mtDNA mutation should therefore be performed especially in patients with maternally-inherited diabetes or hearing loss presenting with FSGS.

  19. Molecular epidemiology analyze of a hemorrhagic fever with renal syndrome case%1例肾综合征出血热死亡病例分子流行病学分析

    Institute of Scientific and Technical Information of China (English)

    刘远; 蒋力云; 丁鹏; 王大虎; 肖新才

    2012-01-01

    目的 分析2011年广州市1例肾综合征出血热重症死亡病例的发病原因,并对其进行分子流行病学分析.方法 将患者血清以及居住地周围人群、老鼠标本进行抗体检测和PCR检测,将获得的序列与NCBI上的序列进行比对.结果 鼠血IgG抗体检测阳性率为33.33%,人群血清IgG抗体检测阳性率为5.66%,均高于检测的阳性率.患者血清中汉坦病毒基因不存在大的变异.结论 加强HFRS的日常监测,扩大监测范围和数量,认真做好防鼠灭鼠工作,减少传染源,切断传播途径,有利于HFRS的防治.%Objective To find out the cause of a hemorrhagic fever with renal syndrome case, and carry out molecular epidemiology analyze. Method The serum samples were developed antibody and PCR detection among the patient, surround people and rat Acquired sequence compare with the sequences in the Genbank. Results The positive rate of IgG in the sera of rats and people were 33. 33% and 5. 66% , respectively, they were higher than the positive rate we survey in these years. Hantavirus was not big mutation in the patient's serum. Conclusions We need to enhance the daily surveillance, expand the monitoring circumsciption and quantity, do well the deratization work, reduce the infection sources, cut down the transmission routes, those were profit for HFRS.

  20. New syndrome with ocular, skeletal and renal involvement

    Energy Technology Data Exchange (ETDEWEB)

    Cirillo Silengo, M.; Lopez Bell, G.; Biagioli, M.; Guala, A.; Franceschini, P.; Porcellini, G.

    1987-03-01

    A patient with retinitis pigmentosa, hypertension with interstitial nephropathy, short limb dwarfism with Madelung deformity of the forearms and an unclassified type of brachydactyly is described. Such bone dysplasia has never been reported to date either as a single entity or associated with renal and retinal diseases.

  1. [Urolithiasis due to renal tubular acidosis associated with Sjögren's syndrome].

    Science.gov (United States)

    Umekawa, T; Esa, A; Uemura, T; Kohri, K; Kurita, T; Ishikawa, Y; Iguchi, M; Kataoka, K

    1990-03-01

    We encountered 4 patients with urolithiasis due to renal tubular acidosis (RTA) associated with Sjögren's syndrome. Laboratory results about RTA in 4 patients with Sjögrenhs syndrome were not significantly different from those in patients who suffered from urolithiasis due to RTA without Sjögren's syndrome. The incidence of urolitiasis in these cases was suspected to be higher than that in RTA patients without Sjögren's syndrome, because all 4 patients in this study had urolithiasis. When we examine patients with bilateral and multiple urolithiasis, particularly in middle-aged women, we should bear in mind that RTA and Sjögren's syndrome may exist in the background.

  2. Application of Elman feedback neural network model to predict the incidence of hemorrhagic fever with renal syndrome%基于Elman反馈型神经网络的肾综合征出血热发病率预测模型

    Institute of Scientific and Technical Information of China (English)

    吴伟; 郭军巧; 安淑一; 关鹏; 周宝森

    2015-01-01

    Objective To describe the procedure of building Elman neural network model, and explore the value of potential application of the above model. Methods Monthly incidence of hemorrhagic fever with renal syndrome(HFRS) in China from 2004 to 2013 was used to build Elman neural network model and SARIMA model and forecasted the monthly incidence of HFRS in China from January 2014 to September 2014. The fitting and prediction effects of the two models were compared. Results For training sample, MAE, MAPE and RMSE of Elman neural network were 0.0088, 0.1191 and 0.0127 respectively; MAE, MAPE and RMSE of SARIMA model were 0.0111, 0.1268 and 0.0206 respectively. For predicting sample, MAE, RMSE and MAPE of Elman neural network were 0.0079, 0.1180 and 0.0096 respectively;MAE, RMSE and MAPE of SARIMA model were 0.0178, 0.2778 and 0.1861 respectively. Conclusion Elman neural network fits and forecasts the HFRS incidence trend in China well, and the fitting and prediction effect is superior to the SARIMA model, which is of great application value for the prevention and control of hemorrhagic fever with renal syndrome.%目的:阐述建立Elman神经网络模型预测肾综合征出血热(HFRS)发病率的方法和步骤,探讨其应用前景。方法使用全国2004-2013年HFRS的月发病率资料,建立Elman神经网络预测模型和SARIMA模型,对2014年1-9月HFRS的月发病率进行预测,比较2个模型的拟合和预测效果。结果对于训练样本,Elman神经网络的平均绝对误差(MAE)、平均绝对误差百分比(MAPE)以及均方误差平方根(RMSE)分别为0.0088、0.1191和0.0127;SARIMA模型的MAE、MAPE和RMSE分别为0.0111、0.1268和0.0206。对于预测样本,Elman神经网络的MAE、MAPE和RMSE分别为0.0079、0.1180和0.0096;SARIMA模型的MAE、MAPE和RMSE分别为0.0178、0.2778和0.1861。结论 Elman神经网络较好地拟合和预测了全国HFRS的发病趋势,并且其拟合和预测效果优

  3. Eculizumab prevents recurrent antiphospholipid antibody syndrome and enables successful renal transplantation.

    Science.gov (United States)

    Lonze, B E; Zachary, A A; Magro, C M; Desai, N M; Orandi, B J; Dagher, N N; Singer, A L; Carter-Monroe, N; Nazarian, S M; Segev, D L; Streiff, M B; Montgomery, R A

    2014-02-01

    Renal transplantation in patients with antiphospholipid antibodies has historically proven challenging due to increased risk for thrombosis and allograft failure. This is especially true for patients with antiphospholipid antibody syndrome (APS) and its rare subtype, the catastrophic antiphospholipid antibody syndrome (CAPS). Since a critical mechanism of thrombosis in APS/CAPS is one mediated by complement activation, we hypothesized that preemptive treatment with the terminal complement inhibitor, eculizumab, would reduce the extent of vascular injury and thrombosis, enabling renal transplantation for patients in whom it would otherwise be contraindicated. Three patients with APS, two with a history of CAPS, were treated with continuous systemic anticoagulation together with eculizumab prior to and following live donor renal transplantation. Two patients were also sensitized to human leukocyte antigens (HLA) and required plasmapheresis for reduction of donor-specific antibodies. After follow-up ranging from 4 months to 4 years, all patients have functioning renal allografts. No systemic thrombotic events or early graft losses were observed. While the appropriate duration of treatment remains to be determined, this case series suggests that complement inhibitors such as eculizumab may prove to be effective in preventing the recurrence of APS after renal transplantation.

  4. Epidemic characteristics and tendency prediction of hemorrhagic fever with renal syndrome from 2005 to 2014 in Xi'an%2005-2014年西安市肾综合征出血热流行特征分析

    Institute of Scientific and Technical Information of China (English)

    李琴丽; 蔡正华; 邢远; 李广帅; 祝睿

    2015-01-01

    Objective To analyze the epidemiologic characteristics and tendency of hemorrhagic fever with renal syndrome (HFRS) in Xi'an from 2005 to 2014,and to grasp the epidemic regularity and predict the trend of HFRS for establishing effective prevention and control measures.Methods The descriptive epidemiological method was used to analyze the epidemic situation of HFRS in Xi'an from 2005 to 2014.The autoregressive integrated moving average (ARIMA) model was applied to analyze,fit and predict the epidemic data of 2015.Results There were 8 500 HFRS patients in Xi'an from 2005 to 2014,the incidence rate was 10.60/100 000.The morbidity increased at first and then decreased from 2005 to 2014;the incidence rate was 9.06/100 000 in 2005 and up to 19.46/100 000 in 2010,then down to 3.43/100 000 in 2014.More cases were reported in spring (15.85%,1 347/8 500) and autumn-winter seasons (72.91%,6 197/8 500).The high-risk age group of HFRS was between 15 to 59 years,accounting for 77.71% (6 605/8 500) of the overall incidence rate;there were no significant differences in < 15 years,15 to 59 years and > 59 years groups (x2 =15.63,P > 0.05).The male to female ratio was 3.01 ∶ 1.00,male incidence was 15.57/100 000 and female incidence rate was 5.41/100 000,and the difference was statistically significant between gender (x2 =1 948.84,P < 0.05).The main occupation was farmers,accounting for 66.04% (5 613/8 500) of the overall incidence rate.The top 4 districts were Chang'an,Zhouzhi,Huxian and Lintong;the incidence rate was 31.07/100 000,22.74/100 000,21.09/100 000 and 11.06/100 000,respectively,and the 10 years cumulative incidence rate was higher than the total incidence.The monthly incidence was predicted with ARIMA (1,1,0) × (0,1,1)12 models in Xi'an from 2005 to 2014,and the predicted number of cases was 235 in 2015 (lower than 2014).Conclusions The overall trend of the epidemic has continued to fall but slowly.Positive and effective comprehensive measures should

  5. Endocytic receptor LRP2/megalin-of holoprosencephaly and renal Fanconi syndrome.

    Science.gov (United States)

    Willnow, Thomas E; Christ, Annabel

    2017-08-01

    Megalin (or LRP2) is an endocytic receptor that plays a central role in embryonic development and adult tissue homeostasis. Loss of this receptor in congenital or acquired diseases results in multiple organ dysfunctions, including forebrain malformation (holoprosencephaly) and renal reabsorption defects (renal Fanconi syndrome). Here, we describe current concepts of the mode of receptor action that include co-receptors and a repertoire of different ligands, and we discuss how these interactions govern functional integrity of the kidney and the brain, and cause disease when defective.

  6. Sorafenib-induced hand-foot syndrome in a patient of renal cell carcinoma

    Directory of Open Access Journals (Sweden)

    Amrita Sil

    2014-01-01

    Full Text Available Sorafenib, a multikinase inhibitor, is approved for treatment of renal cell cancer and hepatocellular cancer. Hand-foot syndrome (HFD is a condition where erythema, scaling, and bullous lesion affect the hand and feet. In this case, a post-nephrectomy renal carcinoma patient prescribed sorafenib developed HFD 1 week after the drug usage. All laboratory parameters were within normal limits. The dose of sorafenib was reduced and topical corticosteroids, antihistamines, and emollients were prescribed. The reaction reduced after 2 weeks of therapy, only to reappear again when the second cycle of sorafenib-targeted therapy was started. The case was diagnosed as sorafenib-induced HFD.

  7. Posterior reversible encephalopathy syndrome in a hypertensive patient with renal failure

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    T Aatif

    2016-01-01

    Full Text Available Posterior reversible encephalopathy syndrome (PRES is a clinical and neuroimaging entity characterized by headache, visual field deficits, changes in mentation and seizures, and by typical neuro-imaging features such as areas of sub-cortical edema, occasionally cortical, involving predominantly the occipital and parietal lobes of both hemispheres. Hypertension, uremia, immunosuppressive drugs neurotoxicity, preeclampsia or eclampsia, renal disease, and sepsis are the most common etiologies of PRES. Less common, it has been described in the setting of autoimmune disease. We report a case of PRES which was associated with hypertensive crisis in a patient with renal failure. Antihypertensive therapy and hemodialysis resulted in complete recovery.

  8. [Sjögren syndrome associated with renal tubular acidosis type I].

    Science.gov (United States)

    Górriz, L; Molino, R; Arjona, D; Estripeaut, D

    2000-01-01

    Primary Sjögren's Syndrome complicated with a renal tubular acidosis type 1 and hypocalcemic paralysis, as the principal clinical manifestation, is uncommon. Although the initial manifestations of the nephropathy are not well understood, it is believed that the invasion of mononuclear cells and the high level of circulating antibodies, play an important role in the pathogenesis of the disease. We present a patient with hypocalcemic paralysis as an initial manifestation of a latent Sjögren's disease. The glandular biopsy was normal, suggesting a mayor participation of an immunological humoral factor in the renal lesion.

  9. Anatomical Changes and Audiological Profile in Branchio-oto-renal Syndrome: A Literature Review

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    Lindau, Tâmara Andrade

    2014-01-01

    Full Text Available Introduction Branchio-oto-renal (BOR syndrome is an autosomal-dominant genetic condition with high penetrance and variable expressivity, with an estimated prevalence of 1 in 40,000. Approximately 40% of the patients with the syndrome have mutations in the gene EYA1, located at chromosomal region 8q13.3, and 5% have mutations in the gene SIX5 in chromosome region 19q13. The phenotype of this syndrome is characterized by preauricular fistulas; structural malformations of the external, middle, and inner ears; branchial fistulas; renal disorders; cleft palate; and variable type and degree of hearing loss. Aim Hearing loss is part of BOR syndrome phenotype. The aim of this study was to present a literature review on the anatomical aspects and audiological profile of BOR syndrome. Data Synthesis Thirty-four studies were selected for analysis. Some aspects when specifying the phenotype of BOR syndrome are controversial, especially those issues related to the audiological profile in which there was variability on auditory standard, hearing loss progression, and type and degree of the hearing loss. Mixed loss was the most common type of hearing loss among the studies; however, there was no consensus among studies regarding the degree of the hearing loss.

  10. Anatomical Changes and Audiological Profile in Branchio-oto-renal Syndrome: A Literature Review.

    Science.gov (United States)

    Lindau, Tâmara Andrade; Cardoso, Ana Cláudia Vieira; Rossi, Natalia Freitas; Giacheti, Célia Maria

    2014-01-01

    Introduction Branchio-oto-renal (BOR) syndrome is an autosomal-dominant genetic condition with high penetrance and variable expressivity, with an estimated prevalence of 1 in 40,000. Approximately 40% of the patients with the syndrome have mutations in the gene EYA1, located at chromosomal region 8q13.3, and 5% have mutations in the gene SIX5 in chromosome region 19q13. The phenotype of this syndrome is characterized by preauricular fistulas; structural malformations of the external, middle, and inner ears; branchial fistulas; renal disorders; cleft palate; and variable type and degree of hearing loss. Aim Hearing loss is part of BOR syndrome phenotype. The aim of this study was to present a literature review on the anatomical aspects and audiological profile of BOR syndrome. Data Synthesis Thirty-four studies were selected for analysis. Some aspects when specifying the phenotype of BOR syndrome are controversial, especially those issues related to the audiological profile in which there was variability on auditory standard, hearing loss progression, and type and degree of the hearing loss. Mixed loss was the most common type of hearing loss among the studies; however, there was no consensus among studies regarding the degree of the hearing loss.

  11. ADQI 7 : the clinical management of the Cardio-Renal syndromes: work group statements from the 7th ADQI consensus conference

    NARCIS (Netherlands)

    Davenport, A.; Anker, S. D.; Mebazaa, A.; Palazzuoli, A.; Vescovo, G.; Bellomo, R.; Ponikowski, P.; Anand, I.; Aspromonte, N.; Bagshaw, S.; Berl, T.; Bobek, I.; Cruz, D. N.; Daliento, L.; Haapio, M.; Hillege, H.; House, A.; Katz, N.; Maisel, A.; Mankad, S.; McCullough, P.; Ronco, F.; Shaw, A.; Sheinfeld, G.; Soni, S.; Zamperetti, N.; Zanco, P.; Ronco, C.

    2010-01-01

    Many patients with heart failure have underlying renal dysfunction, and similarly, patients with kidney failure are prone to cardiac failure. This has led to the concept of cardio-renal syndromes, which can be an acute or chronic cardio-renal syndrome, when cardiac failure causes deterioration in re

  12. Renal dysfunction and anemia in patients with heart failure — the cardio-renal anemia syndrome

    OpenAIRE

    Malić, Daniela; Matijević, Sanja; Bubić, Ivan; Rački, Sanjin; Zaputović, Luka

    2011-01-01

    Cardiovascular diseases are the leading cause of morbidity and mortality in patients with chronic kidney disease. The appearance of cardiovascular complications is strongly in positive correlation with the severity of kidney disease. About 40% of patients with moderate or severe kidney disease and even 60% of patients in the terminal phase have some degree of chronic heart failure. “The Cardio-Renal Syndrome” represents a variety of pathophysiological abnormalities of ...

  13. Hemorrhagic syndrome and Acute renal failure in a pregnant woman after contact with Lonomia caterpillars: a case report

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    FAN Hui Wen

    1998-01-01

    Full Text Available A case of a 37-week pregnant woman who developed a hemorrhagic syndrome and acute renal failure after contact with Lonomia caterpillars is reported. The accident also initiated labour and the patient gave birth to an alive child. Some pathophysiological aspects of the genital bleeding and of the acute renal failure are discussed.

  14. Identification of a novel EYA1 splice-site mutation in a Danish branchio-oto-renal syndrome family

    DEFF Research Database (Denmark)

    Henriksen, Ann Marie; Tümer, Zeynep; Tommerup, Niels

    2004-01-01

    Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder characterized by variable clinical manifestations including branchial fistulae, preauricular pits, ear malformations, hearing impairment, and renal anomalies. BOR is caused by mutations in the genes EYA1 and SIX1. A Danish BOR...

  15. Association between the glomerular filtration rate of renal dysfunction and metabolic syndrome: an age-stratified analysis

    Institute of Scientific and Technical Information of China (English)

    宋慧

    2014-01-01

    Objective To explore the relationship between the renal dysfunction rate and metabolic syndrome(MS),stratified by age.Methods People took part in physical check-up in a certain tertiary hospital from March 2010to September 2012,were enrolled in this study.Estimated glomerular filtration rate(e GFR),—a renal dysfunction indicator,was calculated by modified MDRD

  16. Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome Combined With Adrenocortical Carcinoma on 18F-FDG PET/CT.

    Science.gov (United States)

    Guo, Xiuyu; Chen, Haojun; Fu, Hao; Wu, Hua

    2017-09-01

    Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome is a recognized distinct phenotypic variant of multiple cutaneous and uterine leiomyomatosis. The present case reports an extremely rare case of HLRCC syndrome combined with adrenocortical carcinoma. The case suggests that HLRCC should be considered in any young patient with bulky uterine leiomyomas and renal cell cancer, and F-FDG PET/CT can help detect unexpected additional primary malignancy in a patient with known cancer.

  17. The Perlman syndrome: familial renal dysplasia with Wilms tumor, fetal gigantism and multiple congenital anomalies. 1984.

    Science.gov (United States)

    Neri, Giovanni; Martini-Neri, Maria Enrica; Katz, Ben E; Opitz, John M

    2013-11-01

    The ensuing paper by Professor Giovanni Neri and colleagues was originally published in 1984, American Journal of Medical Genetics 19:195–207. The original article described a new family with a condition that the authors designated as the Perlman syndrome. This disorder, while uncommon, is an important multiple congenital anomaly and dysplasia syndrome; the causative gene was recently identified. This paper is a seminal work and is graciously republished by Wiley-Blackwell in the Special Festschrift issue honoring Professor Neri. We describe a familial syndrome of renal dysplasia, Wilms tumor, hyperplasia of the endocrine pancreas, fetal gigantism, multiple congenital anomalies and mental retardation. This condition was previously described by Perlman et al. [1973, 1975] and we propose to call it the "Perlman syndrome." It appears to be transmitted as an autosomal recessive trait. The possible relationships between dysplasia, neoplasia and malformation are discussed. © 2013 Wiley Periodicals, Inc.

  18. Prevalance of anemia and its association with cardio-renal syndrome.

    Science.gov (United States)

    Silva, Ricardo P; Barbosa, Paulo H U; Kimura, Osamu S; Sobrinho, Carlos Roberto M R; Sousa Neto, João David; Silva, Frederico A L; Silva Júnior, Geraldo B; Mota, Rosa M S; Daher, Elizabeth F

    2007-08-21

    Anemia is common in cardio-renal syndrome and may contribute to increase mortality. To examine the prevalence of anemia and its relationship with cardio-renal syndrome, and to evaluate the risk factors for death. Retrospective study with all patients admitted with congestive heart failure (CHF). The parameters as age, gender, hemoglobin (Hb), estimated glomerular filtration rate (eGFR), New York Heart Association (NYHA) functional class, ejection fraction (EF%), hospital stay, hypertension, diabetes, smoking and CHF etiology were analyzed. Anemia was defined as Hbrenal failure was stratified according to K-DOQI classification. Statistical analysis was done by the programs EpiInfo and SPSS for windows. A total of 174 patients were studied. The average age was 63+/-16 years, 65.5% were males, and 18 of them (11%) were non-survivors. Anemia was observed in 45% of patients, and 82% presented some degree of renal failure. The majority of patients (87%) were classified as NYHA functional class III or IV. The average ejection fraction was 43.9+/-16.6%, and there was no difference between survivors and non-survivors (p>0.05). Mortality was not significantly higher among patients with anemia (12.4%) when comparing to those without anemia (8.3%, p=0.31). There was a progressive decrease in the level of hemoglobin as renal function decreased (pprevalence of anemia is high among patients with cardio-renal syndrome but was not associated with increased mortality. Increased serum creatinine and low EF% were variables associated with death.

  19. Acute forearm compressive myopathy syndrome secondary to upper limb entrapment: an unusual cause of renal failure.

    Science.gov (United States)

    Tachtsi, Maria D; Kalogirou, Thomas E; Atmatzidis, Stefanos K; Papadimitriou, Dimitrios K; Atmatzidis, Konstantinos S

    2011-05-01

    Compressive myopathy syndrome (SCM) is a syndrome characterized by the lesion of skeletal muscle resulting in subsequent release of intracellular contents (myoglobin, creatine phosphokinase, potassium, etc.) into the circulatory system, which can cause potentially lethal complications. There are numerous causes that can lead to SCM resulting to acute rhabdomyolysis, and many patients present with multiple causes. The most common potentially lethal complication is acute renal failure. The occurrence of acute rhabdomyolysis should be considered as a possibility in any patient who can remain stationary for long periods, or is in a coma, or is intoxicated in any form. We report the rare case of a 26-year-old patient who developed SCM caused by ischemia reperfusion, with subsequent acute rhabdomyolysis and acute renal failure after prolonged compression of the right upper extremity.

  20. Herlyn-Werner-Wunderlich Syndrome with Unilateral Hemivaginal Obstruction, Ipsilateral Renal Agenesis, and Contralateral Renal Thin GBM Disease: A Case Report with Radiological Follow Up

    Energy Technology Data Exchange (ETDEWEB)

    Park, Noh Hyuck; Park, Hee Jin; Park, Chan Sup [Myongji Hospital, Kwandong University, Koyang (Korea, Republic of); Park, Sung Il [Bucheon Hospital, Soonchunhyang University, Bucheon (Korea, Republic of)

    2010-08-15

    Herlyn-Werner-Wunderlich syndrome is a rare Mullerian ductal anomaly that is characterized by the presence of a hemivaginal septum, a didelphic uterus and ipsilateral renal agenesis. It is generally difficult to diagnose the uterine malformation before menarche owing to its small size. Therefore, a follow-up study is very important for confirming the uterine malformation in girls with renal agenesis. We report a patient with renal agenesis and microscopic hematuria, who showed symptoms before menarche. A follow-up study eventually revealed uterine didelphys with a hemivaginal obstruction. A biopsy proved that the microscopic hematuria was caused by thin glomerular basement membrane disease of the contralateral kidney

  1. Ocular, Ear and Renal Manifestations of Alport Syndrome in Three Iranian Families

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    Mohammad Hossein Davari

    2014-12-01

    Full Text Available Alport syndrome is a genetic disorder of basement membranes caused by mutations in type IV collagen network. It was first identified by Dr. Alport in 1927. Its major clinical manifestations are included: glomerulopathy, sensory hearing loss, anterior lenticonus, and the prevalence of Alports’ gene in general population is about 1 in 5000 and the disease prevalence is 1 in 10000 [1-3]. Here we report ocular, ear and renal manifestations of Alport syndrome in 3 families that living in the east city of Iran, Birjand, and we have followed all of this family for 6 years so far.

  2. A Case of Leser-Trélat Syndrome Associated with a Renal Cell Carcinoma

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    Dietrich Barth

    2015-09-01

    Full Text Available Seborrheic keratoses can often be found in elderly people. In general, they appear gradually. In cases of a sudden eruption with itching it might be paraneoplastic. Although some authors doubt the existence of the paraneoplastic Leser-Trélat syndrome, we present a case of sudden eruption of seborrheic keratoses connected with a newly diagnosed renal cell carcinoma. As far as we know, this is the first case report of a Leser-Trélat syndrome with a malignancy of the kidney.

  3. 西安市疫区人口肾综合征出血热疫苗覆盖率及接种策略研究%Vaccine inoculation rate of hemorrhagic fever with renal syndrome in rural population and vaccination strategy in the Xi'an epidemic area

    Institute of Scientific and Technical Information of China (English)

    邢远; 马超锋; 蔡正华; 李琴丽; 陈志军

    2016-01-01

    目的 了解西安市农村疫区人口肾综合征出血热(HFRS)疫苗接种率及人口流动特征,为接种策略的修订提供参考依据.方法 2013年采用横断面调查,从西安市HFRS传统疫区周至县、户县、长安区、临潼区中分别抽取3个村,每个村抽取20户,调查该户所有人口基本情况,同时调查其16~ 60岁HFRS疫苗接种适龄人口的一般情况、疫苗接种情况和外出务工情况等.结果 共调查996人,HFRS疫苗接种适龄人群占69.3%(690/996),其中曾经接种过HFRS疫苗者占49.0%(338/690).53.9%(372/690)适龄人口有长期打工行为.在本县域内打工者HFRS疫苗接种比例(56.8%,67/118)显著高于本市(本县外,37.0%,60/162)和市外(39.1%,36/92,x2=10.74、6.44,P均<0.017).每周回家人群60.3%(76/126)有接种史,每年回家1次人群中无接种史或接种史不详者所占比例最高,为83.3%(35/42).随着疫苗接种率的增加,HFRS发病率显著下降(Y=-0.524X+ 38.319,t=-4.581,P<0.05).结论 经过HFRS疫苗的免费接种,疫苗覆盖率与最大防病效益的发挥具有一定差距.现行接种策略需调整.%Objective To describe the vaccine inoculation rate of hemorrhagic fever with renal syndrome (HFRS) and the movement characteristics of rural population in the Xi'an epidemic area.Methods This was a cross-sectional study.The study covered all the four HFRS traditional high incidence areas (counties):Zhouzhi,Huxian,Chang'an and Lintong.Three villages were selected in each county and 20 households were selected in each village in 2013.Participants included all the persons of these families.People 16-60 years old were interviewed face to face about their sociodemographic and environmental information,and at the same time related HFRS vaccine history and characters of migrant workers were collected.Results Nine hundred and ninety-six persons were investigated,69.3 percent (690/996) were vaccinate-age population.Of all,49.0 percent (338

  4. 中国2005-2008年肾综合征出血热监测及疫情分析%Epidemiology and surveillance programs on hemorrhagic fever with renal syndrome in Mainland China, 2005-2008

    Institute of Scientific and Technical Information of China (English)

    王芹; 周航; 韩仰欢; 王晓芳; 王世文; 殷文武; 李群; 许真

    2010-01-01

    Objective To analyze the epidemiologic and surveillance data of hemorrhagic fever with renal syndrome (HERS) in China, from 2005 to 2008, to describe the epidemiology and trend of HERS. Methods Descriptive epidemiology were studied to analyze the surveillance data from 2005 to 2008, collected from both the internet-based national notifiable disease reporting system and 40 HFRS sentinel sites developed since 2005 in 40 counties around China. Results A total of 56 077 HERS cases and 692 deaths reported in China with case fatality rate as 1.23%. Morbidity and mortality had been annually decreasing since 2004. The top 7 provinces with HFRS cases were Heilongjiang, Lianning, Jilin, Shandong, Shaanxi, Hebei and Zhejiang, which had a total of 44 081 cases reported, accounting for 78.61% of the total number of cases, in the nation. More cases were reported in spring and autumn-winter season, with the peak in November. Cases reported in males were 3.13 times of the females and most cases seen in young and middle-aged farmers. The density and the virus carrying rate of animal hosts and the distribution of dominant species were relatively stable and similar to the previous findings. Apodemus agrarius and Rattus norvegicus were still the most common and predominant animal hosts. No genetic mutation of Hantavirus was detected in the surveillance program. Conclusion The continuous descending trend of the HERS epidemics could be related to the successful strategies on comprehensive prevention and control measures, as controlling the number of rodents and vectors, carrying out HERS vaccination campaign and health education by the local health care takers in the recent years. Implementation of the new national Expanded Program of Immunization on HFRS vaccine in high-risk areas may further reduce the epidemics. However,both the density and the virus carried rate among the host animals remain high in some areas, together with the emergence of new epidemic areas, all call for more

  5. Evaluation of metabolic syndrome and associations with inflammation and graft function in renal transplant recipients

    Directory of Open Access Journals (Sweden)

    Mariana Gascue de Alencastro

    2013-12-01

    Full Text Available INTRODUCTION: Cardiovascular disease (CVD is a major determinant of mortality in renal transplant recipients (RTR. Metabolic syndrome (MS and chronic inflammation are currently considered non traditional risk factors for cardiovascular disease. This study evaluates the frequency of these conditions their associations with graft function. OBJECTIVE: To evaluate the prevalence of metabolic syndrome (MS and inflammation and their associations with graft function in renal transplant recipients. METHODS: A cross-sectional study was carried out with 200 RTR. MS was defined by the NCEP-ATP III criteria. Inflammation was assessed by CRP levels. Renal function was assessed by GFR estimation using the MDRD equation. RESULTS: MS occurred in 71 patients (35.5%. Patients with MS had higher CPR and decreased GFR levels. Inflammation was present in 99 patients (49.5%. Mean waist perimeter, body mass index, triglycerides and serum total cholesterol were significantly higher in inflamed patients. An association between MS and inflammation was demonstrated, 48 (67.6% patients with MS were inflamed and among those without MS the rate of inflamed patients was 39.5% (51 patients (p < 0.001. A significantly higher percentage of patients with MS in the group of patients in chronic renal disease stages III and IV was observed. CONCLUSION: In RTR there is a significant association among MS and inflammation. MS is negatively associated with graft function. The clinical implications of these findings must be evaluated in longitudinal studies.

  6. Hypertension, Chronic Kidney Disease, and Renal Pathology in a Child with Hermansky-Pudlak Syndrome

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    Roberto Gordillo

    2011-01-01

    Full Text Available We report a child with Hermansky-Pudlak Syndrome (HPS and chronic kidney disease (stage II with histological diagnosis of focal segmental glomerulosclerosis (FSGS. A 15-year-old male of Puerto Rico ancestry with history of HPS, hypertension (HTN, asthma, obesity, and chronic kidney disease (CKD stage II presented with new-onset proteinuria without edema. His blood pressure had been controlled, serum creatinine had been 0.9–1.4 mg/dL, and first morning urine protein/creatinine ratio (UPC ranged from 0.2 to 0.38. Due to persistent nonorthostatic proteinuria with CKD, renal biopsy was performed and FSGS (not otherwise specified with chronic diffuse tubulopathy (tubular cytoplasmic droplets and acute tubular injury was reported. Ceroid-like material is known to infiltrate tissues (i.e., lungs, colon, and kidney in HPS, but the reason for the renal insufficiency is unknown. Nonspecific kidney disease and in one adult case IgA nephropathy with ANCA-positive glomerulonephritis have previously been reported in patients with Hermansky-Pudlak syndrome. To our knowledge, we report the first pediatric renal pathology case of HPS associated with CKD. This paper discusses presentation and management of renal disease in HPS.

  7. Hypertension, chronic kidney disease, and renal pathology in a child with hermansky-pudlak syndrome.

    Science.gov (United States)

    Gordillo, Roberto; Del Rio, Marcela; Thomas, David B; Flynn, Joseph T; Woroniecki, Robert P

    2011-01-01

    We report a child with Hermansky-Pudlak Syndrome (HPS) and chronic kidney disease (stage II) with histological diagnosis of focal segmental glomerulosclerosis (FSGS). A 15-year-old male of Puerto Rico ancestry with history of HPS, hypertension (HTN), asthma, obesity, and chronic kidney disease (CKD) stage II presented with new-onset proteinuria without edema. His blood pressure had been controlled, serum creatinine had been 0.9-1.4 mg/dL, and first morning urine protein/creatinine ratio (UPC) ranged from 0.2 to 0.38. Due to persistent nonorthostatic proteinuria with CKD, renal biopsy was performed and FSGS (not otherwise specified) with chronic diffuse tubulopathy (tubular cytoplasmic droplets) and acute tubular injury was reported. Ceroid-like material is known to infiltrate tissues (i.e., lungs, colon, and kidney) in HPS, but the reason for the renal insufficiency is unknown. Nonspecific kidney disease and in one adult case IgA nephropathy with ANCA-positive glomerulonephritis have previously been reported in patients with Hermansky-Pudlak syndrome. To our knowledge, we report the first pediatric renal pathology case of HPS associated with CKD. This paper discusses presentation and management of renal disease in HPS.

  8. The association of nephrotic syndrome and renal vein thrombosis: a clinicopathological analysis of eight pediatric patients.

    Science.gov (United States)

    Tinaztepe, K; Buyan, N; Tinaztepe, B; Akkök, N

    1989-01-01

    Cases with a pathological diagnosis of renal venous thrombosis (RVT) associated with nephrotic syndrome (NS) were studied retrospectively for clinicopathological evaluation. The material consisted of 21 RVT cases which were diagnosed in 2000 consecutive pediatric necropsies, with an overall incidence of about one percent. Eight of the 21 RVT cases were associated with nephrotic syndrome (34%), and this group formed 0.4 percent of the total necropsies in our pediatric center. The glomerulopathies of these nephrotic patients consisted of three cases of Finnish-type congenital NS (FCNS), three cases of renal amyloidosis secondary to familial Mediterranean fever, and two cases of membranoproliferative glomerulonephritis (MPGN). The presence of sepsis associated with disseminated intravascular coagulation, and the morphological age of the thrombi suggested that the RVT was secondary to sepsis in the FCNS cases. In the MPGN and secondary renal amyloidosis cases, the long duration of both the nephrotic state and the administration of diuretics along with glucocorticoid treatment and also the newly formed thrombi without infarction are strong evidences, although not definite, that the RVT developed as a complication of the glomerulopathy. Even though there were no definite clinical criteria for the diagnosis of most of the RVT cases, we would like to emphasize the importance of flank pain, the rapid deterioration of renal functions in a stable nephrotic patient, as well as the hypercoagulable state in the consideration of the development of RVT which indicate the need for appropriate radiological studies for confirmation of this condition during life.

  9. Fanconi syndrome and chronic renal failure in a chronic hepatitis B monoinfected patient treated with tenofovir

    Directory of Open Access Journals (Sweden)

    Pedro Magalhães-Costa

    Full Text Available Tenofovir disoproxil fumarate (TDF is one of the first-line treatment options in chronic hepatitis B (CHB. Despite its efficacy in suppressing viral load and a high resistance barrier, long life maintenance therapy is required. Registration studies demonstrated TDF to be a safe drug. However, post-marketing experience reported cases of serious nephrotoxicity associated with hypophosphatemia, osteomalacia and, even more recently, Fanconi syndrome associated with TDF therapy in CHB monoinfected patients. Here the authors report a case of a 40 year-old male, with a CHB monoinfection, that, three years after TDF therapy, developed a progressive chronic kidney disease with a serious hypophosphatemia and a secondary osteomalacia that was manifested by bone pain and multiple bone fractures. Further investigational analyses unveiled a proximal renal tubular dysfunction, which fulfilled most of the diagnostic criteria for a Fanconi syndrome. After TDF withdrawal and oral supplementation with phosphate and calcitriol, his renal function stabilized (despite not returning to normal, proximal renal tubular dysfunction abnormalities resolved as well as osteomalacia. In conclusion, physicians should be aware that, in CHB monoinfected patients under TDF therapy, serious renal damage is possible and preventable by timely monitoring serum creatinine and phosphate.

  10. Yohimbine-induced cutaneous drug eruption, progressive renal failure, and lupus-like syndrome.

    Science.gov (United States)

    Sandler, B; Aronson, P

    1993-04-01

    Yohimbine is an indole alkaloid obtained from the yohimbe tree, a common tree in West Africa. We describe a forty-two-year black man in whom a generalized erythrodermic skin eruption, progressive renal failure, and lupus-like syndrome developed following treatment with the drug, yohimbine. A literature review failed to reveal any reported association of these side effects. We review current information on yohimbine's use in male impotence, reported side effects, and its role as a drug allergen.

  11. Thromboembolic complications in nephrotic syndrome. Coagulation abnormalities, renal vein thrombosis, and other conditions.

    Science.gov (United States)

    Llach, F

    1984-11-01

    In patients with nephrotic syndrome, the presence of a hypercoagulable state is thought to give rise to a high incidence of thromboembolic phenomena. Renal vein thrombosis is a common complication in nephrotic patients, mainly in those with membranous nephropathy, and many other types of thromboembolic complications also occur. The mortality rate in nephrotic patients with thromboembolic complications may be significantly increased, with pulmonary emboli likely being the most common cause of death.

  12. Carnitine Profile and Effect of Suppletion in Children with Renal Fanconi Syndrome due to Cystinosis

    OpenAIRE

    Besouw, M.; Cornelissen, E.; Cassiman, D.; Kluijtmans, L.; L. van den Heuvel; Levtchenko, E

    2014-01-01

    Background: Cystinosis is an autosomal recessive disorder marked by intralysosomal cystine accumulation. Patients present with generalized proximal tubular dysfunction called renal Fanconi syndrome. Urinary carnitine loss results in plasma and muscle carnitine deficiency, but no clinical signs of carnitine deficiency have been described. Also, the optimal dose of carnitine supplementation is undefined. This study aimed to determine whether currently recommended carnitine doses result in adequ...

  13. Primary retroperitoneal teratoma and crossed fused renal ectopia with turner's syndrome -a case report-

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Yun Jung; Hong, Ki Ung [St. Francisco General Hospital, New York (United States)

    1988-02-15

    In 1938, Turner described a clinical entity in phenotype females characterized by sexual infantilism, congenital webbed neck and cubitus valgus. After then, the occurrence of renal anomalies in patients with Turner's syndrome has been recognized. Associated crossed fused renal ectopia is very rare. Primary retroperitoneal teratoma is also rare and usually during childhood. The authors report a case of primary retroperitoneal teratoma and crossed fused renal ectopia with Turner's syndrome (mosaic type). The clinical, pathological and radiographical findings are reviewed.

  14. Early diagnosis of the urofacial syndrome is essential to prevent irreversible renal failure

    Directory of Open Access Journals (Sweden)

    Francisco A. Nicanor

    2005-10-01

    Full Text Available INTRODUCTION: The urofacial or Ochoa syndrome is a rare disease characterized by the presence of functional obstructive uropathy associated with peculiar facial features when patients attempt to smile or laugh. Unfortunately, many of these patients remain without proper diagnosis or adequate treatment due to lack of recognition of the disease. This can ultimately result in upper tract deterioration and eventual renal failure. We present our experience with this rare syndrome. MATERIALS AND METHODS: We identified 3 patients who presented initially with acute renal failure, urinary tract infection (UTI and severe dysfunctional elimination. All patients were thoroughly evaluated, including screening for spinal cord anomalies, and were subsequently diagnosed with urofacial syndrome. RESULTS: At the outset, the two older patients (aged 4 and 9 years presented with the typical facial features when attempting to smile or laugh. One patient in the newborn period presented with urinary and fecal retention and septicemia and, to our knowledge, represents the youngest case of urofacial syndrome reported so far. All patients were evaluated with ultrasonography, renal scan, voiding cystourethrogram (VCUG and urodynamics. Findings included hydronephrosis and a thick-walled, trabeculated bladder with poor compliance and detrusor hypereflexia respectively in each patient. All were subsequently treated with clean intermittent catheterization (CIC, antibiotic prophylaxis and anticholinergic therapy. One patient required appendicovesicostomy for CIC due to discomfort secondary to a sensate urethra. CONCLUSIONS: Our series demonstrates that early recognition of this rare syndrome is necessary to adequately treat and prevent upper tract deterioration in these unique individuals. Although the urofacial is difficult to diagnose in infants, cognizance must be maintained in order to prevent severe subsequent sequalae.

  15. Temporal bone anomalies in the branchio-oto-renal syndrome: detailed computed tomographic and magnetic resonance imaging findings.

    NARCIS (Netherlands)

    Ceruti, S.; Stinckens, C.I.C.; Cremers, C.W.R.J.; Casselman, J.W.

    2002-01-01

    OBJECTIVE: To inventory computed tomographic and magnetic resonance imaging findings in the branchio-oto-renal (BOR) syndrome. STUDY DESIGN: A prospective computed tomographic and magnetic resonance imaging study on a family with the BOR syndrome. SETTING: Department of medical imaging and magnetic

  16. Temporal bone anomalies in the branchio-oto-renal syndrome: detailed computed tomographic and magnetic resonance imaging findings.

    NARCIS (Netherlands)

    Ceruti, S.; Stinckens, C.I.C.; Cremers, C.W.R.J.; Casselman, J.W.

    2002-01-01

    OBJECTIVE: To inventory computed tomographic and magnetic resonance imaging findings in the branchio-oto-renal (BOR) syndrome. STUDY DESIGN: A prospective computed tomographic and magnetic resonance imaging study on a family with the BOR syndrome. SETTING: Department of medical imaging and magnetic

  17. Restless legs syndrome among Saudi end-stage renal disease patients on hemodialysis

    Science.gov (United States)

    Wali, Siraj O.; Alkhouli, Abeer F.

    2015-01-01

    Objectives: To determine the prevalence of restless legs syndrome (RLS) in Saudi patients with end-stage renal disease (ESRD) on hemodialysis. Methods: A cross-sectional study was carried out in 3 hemodialysis centers in Jeddah, Saudi Arabia, between June 2012 and September 2013. All patients were individually interviewed and data was collected on the following demographic features, medical history, laboratory test, the International Restless Legs Syndrome Study Group questionnaire, Epworth Sleepiness Scale (ESS), and Berlin Questionnaire. Results: Three hundred and fifty-five patients were recruited. The prevalence of RLS among ESRD patients was 19.4%, with most patients having moderate to severe disease. The RLS was significantly associated with obstructive sleep apnea (pRestless legs syndrome is common in ESRD patients on hemodialysis, and it is an important source of sleep disruption. In addition to body mass index, Aspirin and anticoagulants may be important risk factors. PMID:25719586

  18. Posterior reversible encephalopathy syndrome in an AIDS patient with acute renal failure and hypertension

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    Olivia Bargiacchi

    2013-03-01

    Full Text Available Introduction: The posterior reversible encephalopathy syndrome (PRES is a neurological entity characterized by magnetic resonance imaging (MRI evidence of bilateral subcortical edema in the occipital regions of the brain. Case report: We report the case of a female patient with AIDS, pulmonary aspergillosis, CMV infection, and acute renal failure due to Clostridium difficile diarrhea. Her clinical course was complicated by seizures and hypertension. MRI findings were consistent with PRES. The patient was treated with anticonvulsants and antihypertensive agents with clinical improvement. Discussion and conclusions: Few cases of PRES in HIV-infected patients have been described, and it is not clear whether HIV infection is a predisposing factor for this syndrome. The article reviews the literature on PRES in HIV and discusses the role of HIV-associated endothelial damage in the pathogenesis of this syndrome.

  19. Renal salt wasting as part of dysautonomia in Guillain-Barre syndrome.

    Science.gov (United States)

    Lenhard, T; Grimm, C; Ringleb, P A

    2011-09-01

    Cerebral salt-wasting syndrome and the syndrome of inappropriate antidiuresis (SIAD) are the most important causes of non-iatrogenic hyponatraemia that can significantly complicate various brain diseases. Salt wasting without an underlying CNS disease may have been disregarded so far by clinicians and has been described as renal salt-wasting (RSW) in patients as drug side effect (eg, cisplatin), in older people with various common diseases (eg, hip fracture, pulmonary infections) and other sporadic conditions. In Guillain-Barré Syndrome (GBS), however, hyponatraemia has been described mainly as SIAD. However, symptoms of hyponatraemia rarely develop in GBS. Here, we report on a woman with GBS with dominant symptoms of dysautonomia and moderate severe hyponatraemia. We could identify RSW as part of the autonomic dysfunction that significantly contributed to disease worsening.

  20. Serotonin syndrome due to fluoxetine and tramadol in renal impaired patient

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    Rajnish Raj

    2014-02-01

    Full Text Available Serotonin syndrome causes confusion or altered mental status; other symptoms include myoclonus, shivering, tremors, diaphoresis, hyperreflexia, incoordination, fever and diarrhoea. Tramadol possesses dual pharmacological effects i.e., a weak opiate agonist at mu, kappa and delta opiate receptors along with reuptake inhibition of norepinephrine and serotonin. Risk associated with tramadol increases when co-administered with serotonergic antidepressants or MAOIs (monoamine oxidase inhibitors and in renal impaired. The incidence of this syndrome is less than 1% as most of the cases remain unreported. The case highlights the fact that interaction between serotonergic agents like fluoxetine and tramadol especially in the presence of co-morbid medical illness can lead to serotonin syndrome. [Int J Basic Clin Pharmacol 2014; 3(1.000: 227-229

  1. Sjogren's syndrome with distal renal tubular acidosis presenting as hypokalaemic paralysis.

    Science.gov (United States)

    Vaidya, Gaurang; Ganeshpure, Swapnil

    2012-10-19

    A young lady with a history of repeated episodes of generalised weakness and fatigue presented to our hospital with similar symptoms and was found to have severe hypokalaemia. She had been previously diagnosed as hypokalaemic periodic paralysis but during this presentation she had also started complaining of the classic sicca-complex of Sjogren's syndrome, which was not present previously. On subsequent investigations she was found to have normal anion-gap metabolic acidosis with positive urine anion gap consistent with the diagnosis of distal renal tubular acidosis (RTA). It was thus concluded that the distal RTA secondary to Sjogren's syndrome was the cause of severe hypokalaemia in our patient. By presenting this case we aim to not only highlight one of the rare presentations of Sjogren's syndrome but also the favourable response of our patient to potassium replacement alone.

  2. Recurrent atypical hemolytic uremic syndrome associated with factor I mutation in a living related renal transplant recipient.

    Science.gov (United States)

    Chan, Micah R; Thomas, Christie P; Torrealba, Jose R; Djamali, Arjang; Fernandez, Luis A; Nishimura, Carla J; Smith, Richard J H; Samaniego, Millie D

    2009-02-01

    Atypical hemolytic uremic syndrome, or the nondiarrheal form of hemolytic uremic syndrome, is a rare disorder typically classified as familial or sporadic. Recent literature has suggested that approximately 50% of patients have mutations in factor H (CFH), factor I (CFI), or membrane cofactor protein (encoded by CD46). Importantly, results of renal transplantation in patients with mutations in either CFH or CFI are dismal, with recurrent disease leading to graft loss in the majority of cases. We describe an adult renal transplant recipient who developed recurrent hemolytic uremic syndrome 1 month after transplantation. Bidirectional sequencing of CFH, CFI, and CD46 confirmed that the patient was heterozygous for a novel missense mutation, a substitution of a serine reside for a tyrosine residue at amino acid 369, in CFI. This report reemphasizes the importance of screening patients with atypical hemolytic uremic syndrome for mutations in these genes before renal transplantation and shows the challenges in the management of these patients.

  3. Thrombo-embolic renal infarction in a case of mid-ventricular takotsubo syndrome.

    Science.gov (United States)

    Y-Hassan, Shams; Shahgaldi, Kambiz

    2011-01-01

    Thrombo-embolism is one of the serious complications of takotsubo syndrome (TS). It typically occurs in the classical mid-apical left ventricular ballooning form of TS. This complication has not been reported in cases of left mid-ventricular ballooning type of TS. We describe a 67-year-old woman who presented with 2-3 days of increasing signs and symptoms of heart failure. Echocardiography showed marked hypokinesia/akinesia in the mid-anterior, mid-anterolateral, and mid-inferior wall of the left ventricle and mild hypokinesia in the apical region. There was also hypokinesia of the mid and apical parts of the right ventricle. One day after admission, she developed acute left-sided renal infarction. Left ventriculography and coronary angiography 3 days after admission showed typical left mid-ventricular ballooning with no identifiable coronary lesion. Follow-up echocardiography showed complete resolution of left and right ventricular dysfunction. Takotsubo syndrome with right ventricular involvement complicated with heart failure and left renal embolic infarction was diagnosed. The mechanism of left renal embolic infarction is discussed.

  4. Renal infarction as a presentation of Austrian syndrome: thromboembolic phenomenon of pneumococcal endocarditis.

    Science.gov (United States)

    Mankongpaisarnrung, Charoen; Soontrapa, Suthipong; Nantsupawat, Teerapat; Desai, Vipul; Nugent, Kenneth

    2012-09-01

    A 52-year-old unvaccinated and splenectomized man presented with fever, altered sensorium, bilateral flank pain and chest discomfort accompanied with paroxysmal atrial fibrillation with a rapid ventricular response. An abdominal computed tomography scan was performed, which revealed a right renal infarct and splenosis. Transthoracic echocardiography was performed, which demonstrated an echodense structure on the mitral valve with mitral regurgitation and a vegetation on the aortic valve with aortic regurgitation. Subsequently, he was found to have pneumococcal infective endocarditis, pneumococcal pneumonia and bacterial meningitis, namely Austrian syndrome. He underwent an early aortic valve and mitral valve repair but still had a poor clinical outcome. Renal infarction has a mortality of approximately 13.2%, which is strongly influenced by the underlying diseases and infectious complications. Medical and surgical treatment initiated in a timely manner is often inadequate. The authors report the first case of Austrian syndrome presenting with renal infarction as a clue to an embolic event associated with infective endocarditis in this study.

  5. Pediatric Sjogren syndrome with distal renal tubular acidosis and autoimmune hypothyroidism: an uncommon association.

    Science.gov (United States)

    Agarwal, Amit; Kumar, Pradeep; Gupta, Nomeeta

    2015-11-01

    A 14-year-old female came with the history of sudden onset weakness; during work up, she was found to have hyperchloremic metabolic acidosis with normal anion gap and normal renal function suggesting the possibility of renal tubular acidosis (RTA). On further evaluation of RTA, she had positive antinuclear antibody, anti-Ro, and anti-La antibodies. On nuclear scan of salivary glands, her left parotid gland was nonfunctional. Her parotid biopsy revealed dilated interlobular ducts engulfed by lymphoid cells. She also had autoimmune hypothyroidism as suggested by raised TSH and positive anti-TPO antibodies. At admission, her serum potassium levels were low and she was treated with intravenous potassium chloride. After she recovered from acute hypokalemic paralysis, she was started on oral potassium citrate along with phosphate supplements, hydroxychloroquine, oral prednisolone and thyroxine supplements. Over the next 6 months, she has significant reduction in the dosage of potassium, bicarbonate and phosphate and gained 3 kg of weight and 3.5 cm of height. As primary Sjogren syndrome itself is rare in pediatric population and its association with renal tubular acidosis is even rarer, we suggest considering Sjogren syndrome as a differential diagnosis during the RTA work-up is worth trying.

  6. Pulmonary-renal syndrome in systemic sclerosis: a report of three cases and review of the literature.

    Science.gov (United States)

    Naniwa, Taio; Banno, Shogo; Sugiura, Yoshiki; Yokota, Kaori; Oosawa, Tomoyo; Maeda, Shinji; Hayami, Yoshihito; Takahashi, Nobuyuki; Ueda, Ryuzo; Matsumoto, Yoshifuji

    2007-01-01

    We describe three cases of acute renal failure with diffuse alveolar hemorrhage, which is designated pulmonary-renal syndrome (PRS), in systemic sclerosis (SSc) and review the literature to better define this rare but severe complication of SSc. The clinical course of three SSc patients with acute renal failure and concomitant diffuse alveolar hemorrhage are reported, and the literature published between 1967 and 2005 is reviewed following a PubMed search. Including our cases, a total of 19 SSc patients with acute renal failure and concomitant diffuse alveolar hemorrhage have been reported. Pulmonary-renal syndrome developing in SSc patients can be categorized clinicopathologically into three entities: PRS with thrombotic microangiopathy, PRS with small vessel vasculitides accompanied with SSc, and d-penicillamine-induced Goodpasture-like syndrome. Patients with scleroderma PRS with thrombotic microangiopathy, to which group our all patients belong, often developed diffuse alveolar hemorrhage after receiving high-dose corticosteroid therapy. Pulmonary-renal syndrome is a fatal complication of SSc and results from different pathogenic processes. Prompt differential diagnosis between the subsets is critical, because therapeutic strategy may differ in the use of high-dose corticosteroid and plasma exchange between the subsets of PRS. Clinical courses of the patients with PRS with thrombotic microangiopathy suggest that high-dose corticosteroid therapy is a trigger of diffuse alveolar hemorrhage in patients with diffuse SSc with signs of thrombotic microangiopathy.

  7. Review of renal tumors associated with Birt-Hogg-Dubé syndrome with focus on clinical and pathobiological aspects.

    Science.gov (United States)

    Kuroda, N; Furuya, M; Nagashima, Y; Gotohda, H; Kawakami, F; Moritani, S; Ota, S; Hora, M; Michal, M; Hes, O; Nakatani, Y

    2014-06-01

    Birt-Hogg-Dubé syndrome (BHDS) is an autosomal dominant inherited disorder characterized by clinical features of skin lesions, pulmonary lesions and renal tumor. The gene responsible for this syndrome is located on chromosome 17p11.2 and designated as FLCN. In this article, we review renal tumors associated with BHDS with a focus on clinical and pathobiological aspects. Renal tumors often occur multifocally or bilaterally in the imaging analyses or gross examination. Histological examination of renal tumors includes a variety of subtypes such as hybrid oncocytic tumor, chromophobe renal cell carcinoma (RCC), oncocytoma, clear cell RCC and papillary RCC. The histologic discordance in multiple tumors seems to be characteristic of this syndrome. Oncocytosis is observed histologically in about half of the cases. Several investigations have elucidated that folliculin may be involved in the mammalian target of rapamycin (mTOR) pathway recently. Renal tumors composed of clear cells may behave in an aggressive fashion. However, renal tumors including hybrid oncocytic tumor, chromophobe RCC and oncocytoma behave mostly in an indolent fashion.

  8. [Hepatorenal syndrome in decompensated cirrhosis : A special form of acute renal failure].

    Science.gov (United States)

    Lenz, K; Buder, R; Lohr, G; Piringer, P; Voglmayr, M

    2016-06-01

    Renal failure is a serious complication in patients with advanced cirrhosis. It occurs in about 20 % of patients hospitalized with cirrhosis. In about 70 % it is caused by prerenal failure, and in 30 % it is due to intrarenal causes. In about 70 % of patients with rperenal failure, renal function can be restored with fluid replacement, but the remaining 30 % are unresponsive to volume expansion. Minor increase in serum creatinine have been shown to be clinically relevant and can adversely affect survival. Therefore early efforts should be made to avoid precipitation of renal failure.Hepatorenal syndrome (HRS) is a  fully reversible impairment of renal function in patients with cirrhosis unresponsive to volume expansion characterized by an acute progressive decrease in kidney function (serumcreatinin > 1,5 mg/dl) - type 1 HRS, whereas type 2 HRS features a decrease in kidney function over a long time, mostly in patients with refractory ascites. Therapy with vasoconstrictors like terlipressin to reverse splanchnic vasodilation, together with albumin is effective in 30-50 % of patients with HRS 1 and improves survival. The only effective longterm therapy is livertransplantation. An improvement of kidney fuction before transplantation is associated with a better outcome and posttransplant kidney function.

  9. Risk factors for poor renal prognosis in children with hemolytic uremic syndrome.

    Science.gov (United States)

    Gianviti, Alessandra; Tozzi, Alberto E; De Petris, Laura; Caprioli, Alfredo; Ravà, Lucilla; Edefonti, Alberto; Ardissino, Gianluigi; Montini, Giovanni; Zacchello, Graziella; Ferretti, Alfonso; Pecoraro, Carmine; De Palo, Tommaso; Caringella, Angela; Gaido, Maurizio; Coppo, Rosanna; Perfumo, Francesco; Miglietti, Nunzia; Ratsche, Ilse; Penza, Rosa; Capasso, Giovambattista; Maringhini, Silvio; Li Volti, Salvatore; Setzu, Carmen; Pennesi, Marco; Bettinelli, Alberto; Peratoner, Leopoldo; Pela, Ivana; Salvaggio, Elio; Lama, Giuliana; Maffei, Salvatore; Rizzoni, Gianfranco

    2003-12-01

    Many factors have been proposed as predictors of poor renal prognosis in children with hemolytic uremic syndrome (HUS), but their role is still controversial. Our aim was to detect the most reliable early predictors of poor renal prognosis to promptly identify children at major risk of bad outcome who could eventually benefit from early specific treatments, such as plasmapheresis. Prognostic factors identifiable at onset of HUS were evaluated by survival analysis and a proportional hazard model. These included age at onset, prodromal diarrhea (D), leukocyte count, central nervous system (CNS) involvement, and evidence of Shiga toxin-producing Escherichia coli (STEC) infection. Three hundred and eighty-seven HUS cases were reported; 276 were investigated for STEC infection and 189 (68%) proved positive. Age at onset, leukocyte count, and CNS involvement were not associated with the time to recovery. Absence of prodromal D and lack of evidence of STEC infection were independently associated with a poor renal prognosis; only 34% of patients D(-)STEC(- )recovered normal renal function compared with 65%-76% of D(+)STEC(+), D(+)STEC(-) and D(-)STEC(+ )patients. In conclusion, absence of both D and evidence of STEC infection are needed to identify patients with HUS and worst prognosis, while D(-) but STEC(+) patients have a significantly better prognosis.

  10. Lowe Syndrome (Oculo-cerebro-renal Syndrome of Lowe: A Case Report from Eastern India

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    Dipankar Das

    2014-01-01

    Full Text Available Lowe syndrome (the oculocerebrorenal syndrome of Lowe, OCRL is a rare X-linked recessive metabolic disorder that primarily affects eyes, kidneys and brain. It is caused by the deficiency of enzyme phosphatidylinositol 4, 5-bisphosphate 5-phosphatase. The gene coding for this enzyme, OCRL1 and mutations in it are responsible to cause Lowe Syndrome. We report a 6 years old boy from Eastern India, with Lowe Syndrome. Diagnosis was suggested by typical features in the MRI of the brain along with other clinical feature and investigation.

  11. Obesity, metabolic syndrome and diabetes mellitus after renal transplantation: prevention and treatment.

    Science.gov (United States)

    Wissing, Karl Martin; Pipeleers, Lissa

    2014-04-01

    The prevalence of the metabolic syndrome in dialysis patients is high and further increases after transplantation due to weight gain and the detrimental metabolic effects of immunosuppressive drugs. Corticosteroids cause insulin resistance, hyperlipidemia, abnormal glucose metabolism and arterial hypertension. The calcineurin inhibitor tacrolimus is diabetogenic by inhibiting insulin secretion, whereas cyclosporine causes hypertension and increases cholesterol levels. Mtor antagonists are responsible for hyperlipidemia and abnormal glucose metabolism by mechanisms that also implicate insulin resistance. The metabolic syndrome in transplant recipients has numerous detrimental effects such as increasing the risk of new onset diabetes, cardiovascular disease events and patient death. In addition, it has also been linked with accelerated loss of graft function, proteinuria and ultimately graft loss. Prevention and management of the metabolic syndrome are based on increasing physical activity, promotion of weight loss and control of cardiovascular risk factors. Bariatric surgery before or after renal transplantation in patients with body mass index >35 kg/m(2) is an option but its long term effects on graft and patient survival have not been investigated. Steroid withdrawal and replacement of tacrolimus with cyclosporine facilitate control of diabetes, whereas replacement of cyclosporine and mtor antagonists can improve hyperlipidemia. The new costimulation inhibitor belatacept has potent immunosuppressive properties without metabolic adverse effects and will be an important component of immunosuppressive regimens with better metabolic risk profile. Medical treatment of cardiovascular risk factors has to take potential drug interactions with immunosuppressive medication and drug accumulation due to renal insufficiency into account. Copyright © 2014 Elsevier Inc. All rights reserved.

  12. Spontaneous Pelvic Rupture as a Result of Renal Colic in a Patient with Klinefelter Syndrome

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    Sergey Reva

    2013-01-01

    Full Text Available We present the case of a young man with Klinefelter syndrome, who was admitted to our clinic with renal colic. Shortly after admittance, spontaneous decrease in pain has occurred. Ultrasound and intravenous contrast computed tomography were performed, which showed the evidence of urine extravasation at the level of left renal pelvis and a 4 mm stone in the lower third of the left ureter. The management with a double-J ureteric stent for three weeks was successful. Then, the stent was removed and computed tomography confirmed the absence of urine extravasation. We also analyze the literature related to this case and discuss the main mechanisms of collecting system rupture.

  13. RENOVASCULAR HYPERTENSION DUE TO RENAL ARTERY STENOSIS IN KLIPPEL-FEIL SYNDROME

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    Foyaca-Sibat H. MD.

    2003-01-01

    Full Text Available ABSTRACT We report one patient with Klippel-Feil (KFS syndrome, other associated anomalies, uncontrolled arterial hypertension, and renal artery stenosis. Because this patient underwent for surgical revascularization with unsuccessful result, all proposed way of treatments are revised, and we have hypothesized that probably for patients with KFS and unilateral renal artery stenosis, medical treatment with ACE inhibitors can provide more benefits than surgical revascularization or percutaneous transluminal angioplasty. We considered that those patients should be manage by a team of medical doctors being aware of their common associated anomalies, identifying all of them when it is possible then, making an integral evaluation of the each individual situation for establishing their medical priorities in order, and then address its treatments accordingly. If at this stage any surgical treatment is required, is important to bring those problems to the anesthesiologist’s attention for a very careful manipulation of the neck and head during induction of anesthesia. The final results will be strongly related with the capacity of management of the underlying cardio-respiratory, renal, skeletal, urogenital, and nervous system problems. . We also propose the term of Klippel-Feil syndrome "Plus" for those patients with cervical vertebral fusion and many other associated deformities rather than to add new eponyms to the long list that already exist. _____________ RESUMEN: HIPERTENSION RENOVASCULAR DEBIDO A ESTENOSIS DE LA ARTERIA RENAL EN EL SÍNDROME DE KLIPPEL-FEIL Reportamos un paciente afectado por un syndrome de Klippel-Feil, otras anormalias congenitas, hipertension arterial incontrolada y una estenosis unilateral de la arteria renal. Este paciente fue sometido a un tratamiento quirÚrgico de la estenosis de la arteria renal, cuyos resultados fueron no satisfactorios por lo que revisamos todas las alternativas de tratamiento para la estenosis

  14. Distal renal tubular acidosis and quadriparaesis in Sjögren′s syndrome: A cunning congregate

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    Arundhati G Diwan

    2014-01-01

    Full Text Available Sjögren′s syndrome (SS is a chronic autoimmune disease, chiefly affecting the exocrine glandular function of salivary glands and lacrimal glands. Rarely, it involves the kidneys, central and peripheral nervous system, muscloskeletal apparatus and lungs. We report a rare constellation of SS with distal renal tubular acidosis and quadriparaesis in a young female. History of quadriparaesis was acute, with rapid progression. Supplementary treatment for severe hypokalemia was instituted at the earliest, lest the patient develop respiratory muscle weakness. Concomitantly, metabolic acidosis with alkaline urine was suspected and subsequently investigated. Eventually, this was attributed to impaired renal acidification of urine in the distal tubules. History of dryness of eyes and mouth since 6 months justified salivary gland biopsy. The results yielded a lymphocytic infiltrative pathology strongly favoring SS. The patient benefited from prompt potassium replacement therapy and had complete resolution over the next week. Supportive treatment for predictable manifestations was continued along with potassium supplements.

  15. Valsartan attenuates cardiac and renal hypertrophy in rats with experimental cardiorenal syndrome possibly through down-regulating galectin-3 signaling.

    Science.gov (United States)

    Zhang, M-J; Gu, Y; Wang, H; Zhu, P-F; Liu, X-Y; Wu, J

    2016-01-01

    Aortocaval fistula (AV) induced chronic volume overload in rats with preexisting mild renal dysfunction (right kidney remove: UNX) could mimic the type 4 cardiorenal syndrome (CRS): chronic renocardiac syndrome. Galectin-3, a β-galactoside binding lectin, is an emerging biomarker in cardiovascular as well as renal diseases. We observed the impact of valsartan on cardiac and renal hypertrophy and galectin-3 changes in this model. Adult male Sprague-Dawley (SD) rats (200-250 g) were divided into S (Sham, n = 7), M (UNX+AV, n = 7) and M+V (UNX+AV+valsartan, n = 7) groups. Eight weeks later, cardiac function was measured by echocardiography. Renal outcome was measured by glomerular filtration rate, effective renal plasma flow, renal blood flow and 24 hours albuminuria. Immunohistochemistry and real-time PCR were used to evaluate the expressions of galectin-3 in heart and renal. Cardiac hypertrophy and renal hypertrophy as well as cardiac enlargement were evidenced in this AV shunt induced chronic volume overload rat model with preexisting mild renal dysfunction. Cardiac and renal hypertrophy were significantly attenuated but cardiac enlargement was unaffected by valsartan independent of its blood pressure lowering effect. 24 hours urine albumin was significantly increased, which was significantly reduced by valsartan in this model. Immunohistochemistry and real-time PCR evidenced significantly up-regulated galectin-3 expression in heart and kidney and borderline increased myocardial collagen I expression, which tended to be lower post valsartan treatment. Up-regulated galectin-3 signaling might also be involved in the pathogenesis in this CRS model. The beneficial effects of valsartan in terms of attenuating cardiac and renal hypertrophy and reducing 24 hours albumin in this model might partly be mediated through down-regulating galectin-3 signal pathway.

  16. Uterus didelphys with obstructed hemivagina and ipsilateral renal anomaly (OHVIRA syndrome: A case report

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    Mohamed Amin El-Gohary

    2014-09-01

    Full Text Available Uterus didelphys with obstructed hemivagina and ipsilateral renal anomaly (OHVIRA syndrome is a rare congenital urogenital anomaly. We report a case of a 14-year-old female who presented with acute lower abdominal pain and tender pelvic mass. The initial diagnosis of twisted left ovarian cyst was confirmed by abdominal ultrasonography (US, which showed an associated absent left kidney. The findings at laparoscopy were that of uterus didelphys with obstructed left hemivagina. Parents were concerned about hymnal integrity and refused hemivaginal septal resection.

  17. Central Diabetes Insipidus and Cisplatin-Induced Renal Salt Wasting Syndrome: A Challenging Combination.

    Science.gov (United States)

    Cortina, Gerard; Hansford, Jordan R; Duke, Trevor

    2016-05-01

    We describe a 2-year-old female with a suprasellar primitive neuroectodermal tumor and central diabetes insipidus (DI) who developed polyuria with natriuresis and subsequent hyponatremia 36 hr after cisplatin administration. The marked urinary losses of sodium in combination with a negative sodium balance led to the diagnosis of cisplatin-induced renal salt wasting syndrome (RSWS). The subsequent clinical management is very challenging. Four weeks later she was discharged from ICU without neurological sequela. The combination of cisplatin-induced RSWS with DI can be confusing and needs careful clinical assessment as inaccurate diagnosis and management can result in increased neurological injury.

  18. Renal artery thrombosis and hypertension in a 13 year old girl with antiphospholipid syndrome.

    Science.gov (United States)

    Ostuni, P A; Lazzarin, P; Pengo, V; Ruffatti, A; Schiavon, F; Gambari, P

    1990-01-01

    The case of a 13 year old girl with renal artery thrombosis and hypertension is described. A cerebrovascular accident and a probable occlusion of the superior mesenteric artery also occurred. Very high levels of 'lupus anticoagulant', anticardiolipin antibodies as well as false positive Venereal Disease Research Laboratory tests were repeatedly shown. Moreover, the patient fulfilled at least four classification criteria for systemic lupus erythematosus, but only a slight positivity for antinucleolar antibodies was present. The striking relation between antiphospholipid antibody levels and clinical events and the treatment of this complex syndrome are discussed. Images PMID:2108619

  19. Severe hypophosphatemic osteomalacia with Fanconi syndrome, renal tubular acidosis, vitamin D deficiency and primary biliary cirrhosis.

    Science.gov (United States)

    Bando, Hironori; Hashimoto, Naoko; Hirota, Yushi; Sakaguchi, Kazuhiko; Hisa, Itoko; Inoue, Yoshifumi; Imanishi, Yasuo; Seino, Susumu; Kaji, Hiroshi

    2009-01-01

    A 49-year-old woman was admitted to our hospital for back pain with marked thoracic and extremity deformities leading to bed-rest for three years. She was diagnosed with hypophosphatemic osteomalacia based on her symptoms, X-ray and bone scintigram, high serum alkaline phosphatase level, and low serum levels of both phosphorus and 1,25 dihydroxyvitamin D(3) with inhibition of phosphorus reabsorption. Fanconi syndrome with renal tubular acidosis, vitamin D deficiency and primary biliary cirrhosis were related to the pathogenesis of osteomalacia in this case. Several causal diseases may be concomitantly responsible for acceleration of the severity of osteomalacia in this patient.

  20. Shock Wave Lithotripsy Does Not Impair Renal Function in a Swine Model of Metabolic Syndrome

    Science.gov (United States)

    Johnson, Cynthia D.; Connors, Bret A.; Evan, Andrew P.; Phillips, Carrie L.; Liu, Ziyue

    2015-01-01

    Abstract Purpose: To determine whether shock wave lithotripsy (SWL) may be a risk factor for renal functional impairment in a swine model of metabolic syndrome (MetS). Materials and Methods: Nine-month-old female Ossabaw pigs were fed an excess calorie atherogenic diet to induce MetS. At 15 months of age, the MetS pigs were treated with 2000 SWs or an overtreatment dose of 4000 SWs targeted at the upper pole calyx of the left kidney (24 kV at 120 SWs/min using the unmodified Dornier HM3 lithotripter; n=5–6 per treatment group). Serum creatinine (Cr) and blood urea nitrogen (BUN) levels were measured in conscious pigs before and ∼60 days after SWL to provide a qualitative assessment of how well both kidneys were filtering (glomerular filtration rate [GFR]). Bilateral renal function was assessed at ∼65 days post-SWL in anesthetized pigs with GFR and effective renal plasma flow (ERPF) quantified by the renal clearance of inulin and para-amino hippurate, respectively. Results: Cr and BUN values were within normal limits before SWL and remained unchanged after lithotripsy in both the 2000 SW- and 4000 SW-treated pigs. GFR and ERPF of kidneys treated with SWL at either SW dose were similar to the contralateral nontreated kidney. Chronic histological changes in the SW-treated pole of the kidney included interstitial fibrosis, sclerotic glomeruli, and dilated and atrophic tubules. Conclusions: Our results are consistent with the view that a single SWL session does not result in renal impairment, even in the presence of MetS. PMID:25285417

  1. Posterior Nutcracker Syndrome Associated with Interrupted Left Inferior Vena Cava with Azygos Continuation and Retroaortic Right Renal Vein

    Energy Technology Data Exchange (ETDEWEB)

    Luo, Xiao Li; Zhou, Xiao Dong [Xijing Hospital, Fourth Military Medical University, Shaanxi (China); Qian, Gen Nian; Xiao, Hui; Zhao, Chun Lei [Fuzhou General Hospital, Fujian (China)

    2012-06-15

    Various anatomic anomalies have been considered the causes of nutcracker syndrome (NCS). Posterior NCS refers to the condition, in which vascular narrowing was secondary to the compression of the retroaortic left renal vein while it is crossing between the aorta and the vertebral column. Here, we report an unusual case of posterior NCS associated with a complicated malformation of the interrupted left inferior vena cava with azygos continuation and retroaortic right renal vein, diagnosed by both color Doppler ultrasonography and CT angiography.

  2. [From the molecular genetics of Alport's syndrome to principles of organo-protection in chronic renal diseases].

    Science.gov (United States)

    Gross, Oliver; Weber, Manfred

    2005-12-15

    Scarring is known to be the endpoint of most chronic kidney diseases. Therefore, prevention of renal fibrosis is a very important topic. The hereditary type IV collagen disease Alport's syndrome is a rare, but challenging cause of chronic renal fibrosis. Increasing knowledge about the pathogenesis of Alport's syndrome may help to find principles of nephro-protection in chronic renal diseases. The defect gene in Alport's syndrome causes an altered assembly of extracellular matrix leading to a defect cell-matrix interaction and fibrosis. This scarring is regulated by comparable mechanisms as in diabetic nephropathy or chronic inflammatory renal diseases. NEPHRO-PROTECTION IN ANIMAL MODELS: By using an Alport animal model of chronic renal fibrosis, principles of nephro-protective therapies such as blockade of the renin-angiotensin system or the effect of HMG-CoA reductase inhibitors can be investigated. CURRENT AND FUTURE NEPHRO-PROTECTION IN HUMANS: The same model serves for evaluation of new organo-protective therapies such as vasopeptidase inhibitors, blockade of endothelin, chemokine and collagen receptors as well as stem cell therapy and their potential benefit for patients with chronic renal diseases.

  3. GATA3 mutation in a family with hypoparathyroidism, deafness and renal dysplasia syndrome

    Institute of Scientific and Technical Information of China (English)

    Zi-Yang Zhu; Qiao-Li Zhou; Shi-Ning Ni; Wei Gu

    2014-01-01

    Background: The hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome is an autosomal dominant disorder primarily caused by GATA3 gene mutation. We report here a case that both of a Chinese boy and his father had HDR syndrome which caused by a novel mutation of GATA3. Methods: Polymerase chain reaction and DNA sequencing was performed to detect the exons of the GATA3 gene for mutation analysis. Results: Sequence analysis of GATA3 revealed a heterozygous nonsense mutation in this family: a mutation of GATA3 at exon 2 (c.515C >A) that resulted in a premature stop at codon 172 (p.S172X) with a loss of two zinc fi nger domains. Conclusion: We identifi ed a novel nonsense mutation which will expand the spectrum of HDR-associated GATA3 mutations.

  4. HERV-mediated genomic rearrangement of EYA1 in an individual with branchio-oto-renal syndrome.

    Science.gov (United States)

    Sanchez-Valle, Amarilis; Wang, Xueqing; Potocki, Lorraine; Xia, Zhilian; Kang, Sung-Hae L; Carlin, Mary E; Michel, Donnice; Williams, Patricia; Cabrera-Meza, Gerardo; Brundage, Ellen K; Eifert, Anna L; Stankiewicz, Pawel; Cheung, Sau Wai; Lalani, Seema R

    2010-11-01

    Branchio-oto-renal syndrome is characterized by branchial defects, hearing loss, preauricular pits, and renal anomalies. Mutations in EYA1 are the most common cause of branchio-oto-renal and branchio-otic syndromes. Large chromosomal aberrations of 8q13, including complex rearrangements occur in about 20% of these individuals. However, submicroscopic deletions and the molecular characterization of genomic rearrangements involving the EYA1 gene have rarely been reported. Using the array-comparative genomic hybridization, we identified non-recurrent genomic deletions including the EYA1 gene in three patients with branchio-oto-renal syndrome, short stature, and developmental delay. One of these deletions was mediated by two human endogenous retroviral sequence blocks, analogous to the AZFa microdeletion on Yq11, responsible for male infertility. This report describes the expanded phenotype of individuals, resulting from contiguous gene deletion involving the EYA1 gene and provides a molecular description of the genomic rearrangements involving this gene in branchio-oto-renal syndrome. © 2010 Wiley-Liss, Inc.

  5. Concurrent nephrotic syndrome and acute renal failure caused by chronic lymphocytic leukemia (CLL): a case report and literature review.

    Science.gov (United States)

    Dou, Xianrui; Hu, Haitang; Ju, Yongle; Liu, Yongdong; Kang, Kaifu; Zhou, Shufeng; Chen, Wenfang

    2011-10-13

    Kidney injury associated with lymphocytic leukemia (CLL) is typically caused by direct tumor infiltration which occasionally results in acute renal failure. Glomerular involvement presenting as proteinuria or even nephrotic syndrome is exceptionally rare. Here we report a case of 54-year-old male CLL patient with nephrotic syndrome and renal failure. The lymph node biopsy confirmed that the patients had CLL with remarkable immunoglobulin light chain amyloid deposition. The renal biopsy demonstrated the concurrence of AL amyloidosis and neoplastic infiltration. Combined treatment of fludarabine, cyclophosphamide and rituximab resulted in remission of CLL, as well as the renal disfunction and nephrotic syndrome, without recurrence during a 12-month follow-up. To our knowledge, this is the first case of CLL patient showing the nephrotic syndrome and acute renal failure caused by AL amyloidosis and neoplastic infiltration. Though AL amyloidosis caused by plasma cell dyscrasia usually responses poorly to chemotherapy, this patient exhibited a satisfactory clinical outcome due to successful inhibition of the production of amylodogenic light chains by combined chemotherapy.

  6. Oral carnitine therapy in children with cystinosis and renal Fanconi syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Gahl, W.A.; Bernardini, I.; Dalakas, M.; Rizzo, W.B.; Harper, G.S.; Hoeg, J.M.; Hurko, O.; Bernar, J.

    1988-02-01

    11 children with either cystinosis or Lowe's syndrome had a reduced content of plasma and muscle carnitine due to renal Fanconi syndrome. After treatment with oral L-carnitine, 100 mg/kg per d divided every 6 h, plasma carnitine concentrations became normal in all subjects within 2 d. Initial plasma free fatty acid concentrations, inversely related to free carnitine concentrations, were reduced after 7-20 mo of carnitine therapy. Muscle lipid accumulation, which varied directly with duration of carnitine deficiency (r = 0.73), improved significantly in three of seven rebiopsied patients after carnitine therapy. One Lowe's syndrome patient achieved a normal muscle carnitine level after therapy. Muscle carnitine levels remained low in all cystinosis patients, even though cystinotic muscle cells in culture took up L-(/sup 3/H)carnitine normally. The half-life of plasma carnitine for cystinotic children given a single oral dose approximated 6.3 h; 14% of ingested L-carnitine was excreted within 24 h. Studies in a uremic patient with cystinosis showed that her plasma carnitine was in equilibrium with some larger compartment and may have been maintained by release of carnitine from the muscle during dialysis. Because oral L-carnitine corrects plasma carnitine deficiency, lowers plasma free fatty acid concentrations, and reverses muscle lipid accumulation in some patients, its use as therapy in renal Fanconi syndrome should be considered. However, its efficacy in restoring muscle carnitine to normal, and the optimal dosage regimen, have yet to be determined.

  7. Herlyn-Werner-Wunderlich Syndrome Consisting of Uterine Didelphys, Obstructed Hemivagina and Ipsilateral Renal Agenesis in a Newborn

    Directory of Open Access Journals (Sweden)

    Tsung-Hsin Wu

    2012-02-01

    Full Text Available Herlyn-Werner-Wunderlich (HWW syndrome is a rare variant of Müllerian duct anomalies consisting of uterine didelphys, obstructed hemivagina, and ipsilateral renal agenesis. Patients with HWW syndrome are usually asymptomatic until menarche, when they present with acute lower abdominal pain. Here we report a case of a female newborn with right renal agenesis diagnosed during the pregnancy. The patient presented with a protruding mass over the vaginal introitus that was associated with an obstructed hemivagina and uterine didelphys.

  8. Bilateral renal tumors in an adult man with Smith-Magenis syndrome: The role of the FLCN gene.

    Science.gov (United States)

    Dardour, Leila; Verleyen, Pieter; Lesage, Karl; Holvoet, Maureen; Devriendt, Koen

    2016-10-01

    Smith-Magenis syndrome (SMS) is a contiguous-gene disorder most commonly caused by a deletion of chromosome 17p11.2. We report a 57 year-old man with SMS who presents bilateral renal tumors. This is most likely related to haploinsufficiency of FLCN gene, located in the deleted region, and a known tumor suppressor gene. Haploinsufficiency of FLCN causes Birt-Hogg-Dubé syndrome (BHDS), characterized by pulmonary cysts, renal and skin tumors. The present observation suggests that the follow-up of patients with SMS should also focus on possible manifestations of BHDS.

  9. Peroxisome proliferator-activated receptor family and its relationship to renal complications of the metabolic syndrome.

    Science.gov (United States)

    Guan, Youfei

    2004-11-01

    Peroxisome proliferator-activated receptors (PPAR) are members of the nuclear hormone receptor superfamily of ligand-activated transcription factors. Three PPAR isoforms, designated PPARalpha, -beta/delta, and -gamma, have been identified and attracted enormous attention as a result of the key role that these receptors play in regulating adipogenesis, lipid metabolism, insulin sensitivity, inflammation, and BP. Growing evidence points to a causative relationship between PPAR activity and the metabolic syndrome, including insulin resistance, glucose intolerance or type 2 diabetes, obesity, dyslipidemia, hypertension, atherosclerosis, and albuminuria. Importantly, both PPAR-alpha activators, such as the fibric acid class of hypolipidemic drugs, and PPAR-gamma agonists, including antidiabetic thiazolidinediones, have been proved to be effective for improving diverse aspects of the metabolic syndrome. All three PPAR isoforms seem to play important roles in the development of diabetic nephropathy in type 2 diabetes. Accumulating data suggesting that PPAR may serve as potential therapeutic targets for treating the metabolic syndrome and its related renal complications have begun to emerge. This article reviews the literature pertaining to the action, ligand selectivity, and physiologic role of PPAR. Particular emphasis is placed on their pathogenic roles in the metabolic syndrome and the therapeutic utility of PPAR modulators in the treatment of diabetic nephropathy.

  10. 深圳市HFRS疫源地鼠携带汉坦病毒与人感染汉坦病毒的基因特征对应性研究%Analysis of the gene characteristic correspondence on rats with Hantavirus and the human infected Hantavirus in natural epidemic areas of HFRS in Shenzhen

    Institute of Scientific and Technical Information of China (English)

    阳帆; 何建凡; 刘建军; 陈戊申; 冼慧霞; 张海龙; 杨洪; 张仁利; 何雅青

    2010-01-01

    目的 了解深圳市肾综合征出血热(HFRS)疫源地鼠携带汉坦病毒与人感染汉坦病毒二者的病原学特征及联系,为HFRS的防控提供科学依据.方法 收集疑似HFRS病人急性期血清标本,并在相同区域开展笼日法捕鼠,无菌取鼠肺.分别采用ELISA和直接免疫荧光法筛选阳性标本,选择代表性血清标本以及鼠肺标本进行逆转录-套式聚合酶链反应(RT-nested PCR)扩增部分M和S片段及核苷酸序列测定,与国内外的汉坦病毒毒株一起进行同源性比对和系统进化树分析.结果 472份鼠肺经直接免疫荧光检测共获得阳性鼠肺47份,带毒率为9.96%.对60份IgM抗体阳性的血液标本进行RT-nested PCR扩增,检出12份阳性,阳性率为20%.从代表性的8份鼠肺和8份病人血清中提取的标本二者之间M片段核苷酸序列的同源性高达95%以上,S片段之间的同源性高达96.5%以上.其推导的氨基酸序列同源性分别为98.0%~100%、98.4%~100%.深圳市HFRS疫源地鼠携带的汉坦病毒和人感染汉坦病毒均为汉城型S2亚型.结论 深圳市流行的汉坦病毒为SEO型S2亚型.无论是同一地区的鼠和人之间,还是不同地区的鼠和人之间,汉坦病毒都是具有较高的同源性.%Objective To compare and contrast the gene characteristic correspondence of hantaviruses(HV) carried by rats in natural epidemic areas of hemorrhagic fever with renal syndrome(HFRS) and infected among HFRS patients in Shenzhen,provide a reasonable scientific basis for controlling of HFRS.Methods We collected the patients serum specimens in acute stage and lung tissues samples of rats.ElISA and direct immunofluorescence were applied to screen the positive samples,respectively.The partial G2 fragments of M segment and S segment were amplified from the representative patients' serum positivesamples and lung tissues positive samples in different areas with reverse transcription-nested-polymerase chain reaction

  11. Alport syndrome: significance of gingival biopsy in the initial diagnosis and periodontal evaluation after renal transplantation.

    Science.gov (United States)

    Toygar, Hilal Uslu; Toygar, Okan; Guzeldemir, Esra; Cilasun, Ulkem; Nacar, Ahmet; Bal, Nebil

    2009-01-01

    Alport Syndrome (AS) is an important hereditary disorder affecting the glomerular basement membrane. Diagnosis of AS is based on the presence of hematuric nephropathy, renal failure, hearing loss, ocular abnormalities and changes in the glomerular basement membrane of the lamina densa. The aims of this case report were to show the changes in the gingival tissues in a patient with AS under therapy with cyclosporin-A after renal transplantation and to discuss the possible role of type IV collagen in gingival basal lamina as an alternative approach for the diagnosis of AS. A 20-year-old male patient with AS underwent periodontal therapy including a series of gingivectomy surgeries. Gingival samples obtained during the second surgery were examined histopathologically and by transmission electron microscopy for further pathological examination. Gingivectomy procedures have been performed every 6 months over the last 4 years. The excessive and fibrous gingival enlargements resulted in migration of the anterior teeth, but no alveolar bone loss occurred. This is the first report to demonstrate the possible changes in the gingival tissues caused by AS. It is suggested that gingival biopsy can be an initial diagnostic tool instead of renal or skin biopsies. Proper dental and periodontal care and regular visits to the dentist could provide limited gingival hyperplasia to patients with AS.

  12. The roles of the liver and pancreas in renal nutcracker syndrome.

    Science.gov (United States)

    Yun, Seong Jong; Nam, Deok Ho; Ryu, Jung Kyu; Kim, Ji Su

    2014-10-01

    To assess the frequency and significance of presence of the liver and pancreas at the left renal vein (LRV) level in patients with suspected renal nutcracker syndrome (NCS). We included 101 patients with hematuria who underwent urography three-dimensional CT between April 2009 and November 2013. These patients were divided into NCS (n=25) and non-NCS (n=76) patients according to the following CT criteria: (1) the presence of beak sign and (2) hilar-aortomesenteric left renal vein diameter ratio >4. Patients were grouped according to the presence of the liver and pancreas at the LRV: group LP (both liver and pancreas), group L (only liver), group P (only pancreas), and group O (neither liver nor pancreas). The difference in the frequencies of groups was analyzed between NCS and non-NCS patients. Multivariate analysis was used to determine the independent factors between NCS and non-NCS patients. The frequencies of group LP, group L, group P, and group O in NCS vs. non-NCS were 88% vs. 5.3% (ppancreas at the level of the LRV was frequently found in NCS and was the independent factor for NCS. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

  13. Alport syndrome: significance of gingival biopsy in the initial diagnosis and periodontal evaluation after renal transplantation

    Directory of Open Access Journals (Sweden)

    Hilal Uslu Toygar

    2009-12-01

    Full Text Available Alport Syndrome (AS is an important hereditary disorder affecting the glomerular basement membrane. Diagnosis of AS is based on the presence of hematuric nephropathy, renal failure, hearing loss, ocular abnormalities and changes in the glomerular basement membrane of the lamina densa. The aims of this case report were to show the changes in the gingival tissues in a patient with AS under therapy with cyclosporin-A after renal transplantation and to discuss the possible role of type IV collagen in gingival basal lamina as an alternative approach for the diagnosis of AS. A 20-year-old male patient with AS underwent periodontal therapy including a series of gingivectomy surgeries. Gingival samples obtained during the second surgery were examined histopathologically and by transmission electron microscopy for further pathological examination. Gingivectomy procedures have been performed every 6 months over the last 4 years. The excessive and fibrous gingival enlargements resulted in migration of the anterior teeth, but no alveolar bone loss occurred. This is the first report to demonstrate the possible changes in the gingival tissues caused by AS. It is suggested that gingival biopsy can be an initial diagnostic tool instead of renal or skin biopsies. Proper dental and periodontal care and regular visits to the dentist could provide limited gingival hyperplasia to patients with AS.

  14. [A case of cryptococcal meningitis with nephrotic syndrome and renal insufficiency under immunosuppressive therapy].

    Science.gov (United States)

    Tsuchida, Hiroki; Ichikawa, Daisuke; Shima, Yoshinori; Yasuda, Takashi; Sato, Takeo; Kimura, Kenjiro

    2007-01-01

    A 76 year-old woman was admitted to our hospital because of pyrexia and fatigue. One year earlier, she was diagnosed as nephrotic syndrome(NS) caused by focal segmental glomerulosclerosis and immunosuppressive therapy was started with marked amelioration of proteinuria. Thereafter, her renal function worsened, but only supportive treatment was continued. After admission, a cerebrospinal fluid (CSF) examination revealed Cryptococcus neoformans (C. neoformans) by india ink staining and a subsequent CSF culture confirmed C. neoformans infection. Accordingly, we made the diagnosis of cryptococcal meningitis and immediately started multiple anti fungal drugs with dosage modification according to her impaired renal function. Immunosuppressive therapy for NS was temporarily terminated. The inflammatory signs and symptoms soon were markedly improved, but the anti cryptococcal antibody titer in the serum and CSF remained high. Immunosuppressive therapy was started again at a low dosage because urinary protein had increased again. One hundred and eight days from admission, she was discharged with a regimen of multiple anti fungal drugs. Proteinuria and renal insufficiency was almost stable during hospitalization. Most fungal infection develops in patients in an immunosuppressive state induced by immunosuppressive drugs, HIV infection and so on. Patients with NS are frequently in an immunosuppressive state because of urinary loss of immunoglobulins and the use of immunosuppressive drugs. Therefore, it should be remembered that patients with NS are at a high risk of suffering from fungal infection.

  15. Renal recovery with eculizumab in atypical hemolytic uremic syndrome following prolonged dialysis.

    Science.gov (United States)

    Povey, Hannah; Vundru, Rahul; Junglee, Naushad; Jibani, Mahdi

    2014-11-01

    Hemolytic uremic syndrome (HUS) is a thrombotic microangiopathy (TMA) which encompasses hemolytic anemia, thrombocytopenia, and organ impairment. Around 10% of cases are atypical HUS (aHUS), a rare disease with poor outcomes caused by uncontrolled activation of the alternative complement pathway. This case describes a young woman with clinical manifestations compatible with TMA during childhood and adolescence who was formally diagnosed with aHUS at the age of 21. She was managed with intensive plasma exchange and hemodialysis, which failed to improve her severe acute kidney injury and other hematological manifestations of aHUS. This was further compounded by several episodes of flash pulmonary edema and the posterior reversible encephalopathy syndrome (PRES). Treatment with the monoclonal anti-C5 inhibitor, eculizumab, improved all hematological parameters with almost full renal recovery following 3.5 months of dialysis. So far, long-term use of eculizumab (> 11 months) continues to be effective and without complication. Our case illustrates the difficulty but importance of early consideration of aHUS in patients presenting with TMA. More importantly, we highlight that near-normal renal recovery may be attained with eculizumab in adults even after a long dependence on dialysis - an observation that has not been reported in the literature so far.

  16. Osteomalacia complicating renal tubular acidosis in association with Sjogren′s syndrome

    Directory of Open Access Journals (Sweden)

    Zohra El Ati

    2014-01-01

    Full Text Available Renal involvement in Sjogren′s syndrome (SS is not uncommon and may precede other complaints. Tubulointerstitial nephritis is the most common renal disease in SS and may lead to renal tubular acidosis (RTA, which in turn may cause osteomalacia. Nevertheless, osteomalacia rarely occurs as the first manifestation of a renal tubule disorder due to SS. We herewith describe a 43-year-old woman who was admitted to our hospital for weakness, lumbago and inability to walk. X-ray of the long bones showed extensive demineralization of the bones. Laboratory investigations revealed chronic kidney disease with serum creatinine of 2.3 mg/dL and creatinine clearance of 40 mL/min, hypokalemia (3.2 mmol/L, hypophosphatemia (0.4 mmol/L, hypocalcemia (2.14 mmol/L and hyperchloremic metabolic acidosis (chlorine: 114 mmol/L; alkaline reserve: 14 mmol/L. The serum alkaline phosphatase levels were elevated. The serum levels of 25-hydroxyvitamin D and 1,25-dihydroxy vitamin D were low and borderline low, respectively, and the parathyroid hormone level was 70 pg/L. Urinalysis showed inappropriate alkaline urine (urinary PH: 7, glycosuria with normal blood glucose, phosphaturia and uricosuria. These values indicated the presence of both distal and proximal RTA. Our patient reported dryness of the mouth and eyes and Schirmer′s test showed xerophthalmia. An accessory salivary gland biopsy showed changes corresponding to stage IV of Chisholm and Masson score. Kidney biopsy showed diffuse and severe tubulo-interstitial nephritis with dense lymphoplasmocyte infiltrates. Sicca syndrome and renal interstitial infiltrates indicated SS as the underlying cause of the RTA and osteomalacia. The patient received alkalinization, vitamin D (Sterogyl ®, calcium supplements and steroids in an initial dose of 1 mg/kg/day, tapered to 10 mg daily. The prognosis was favorable and the serum creatinine level was 1.7 mg/dL, calcium was 2.2 mmol/L and serum phosphate was 0.9 mmol/L.

  17. Blue toe syndrome treated with sympathectomy in a patient with acute renal failure caused by cholesterol embolization

    Directory of Open Access Journals (Sweden)

    Min-Gang Kim

    2013-12-01

    Full Text Available Blue toe syndrome is the most frequent manifestation of tissue ischemia caused by cholesterol embolization (CE, which can lead to amputation of affected lower extremities, if severe. However, any effective treatment is lacking. We experienced a case of spontaneously presenting blue toe syndrome and concomitant acute renal failure in a patient with multiple atherosclerotic risk factors. CE was confirmed by renal biopsy. Despite medical treatment including prostaglandin therapy and narcotics, the toe lesion progressed to gangrene with worsening ischemic pain. Therefore, we performed lumbar sympathectomy, which provided dramatic pain relief as well as an adequate blood flow to the ischemic lower extremities, resulting in healing of the gangrenous lesion and avoiding toe amputation. This is the first reported case of a patient with intractable ischemic toe syndrome caused by CE that was treated successfully by sympathectomy. Our observations suggest that sympathectomy may be beneficial in some patients with CE-associated blue toe syndrome.

  18. Accelerated renal disease is associated with the development of metabolic syndrome in a glucolipotoxic mouse model.

    Science.gov (United States)

    Martínez-García, Cristina; Izquierdo, Adriana; Velagapudi, Vidya; Vivas, Yurena; Velasco, Ismael; Campbell, Mark; Burling, Keith; Cava, Fernando; Ros, Manuel; Oresic, Matej; Vidal-Puig, Antonio; Medina-Gomez, Gema

    2012-09-01

    Individuals with metabolic syndrome are at high risk of developing chronic kidney disease (CKD) through unclear pathogenic mechanisms. Obesity and diabetes are known to induce glucolipotoxic effects in metabolically relevant organs. However, the pathogenic role of glucolipotoxicity in the aetiology of diabetic nephropathy is debated. We generated a murine model, the POKO mouse, obtained by crossing the peroxisome proliferator-activated receptor gamma 2 (PPARγ2) knockout (KO) mouse into a genetically obese ob/ob background. We have previously shown that the POKO mice showed: hyperphagia, insulin resistance, hyperglycaemia and dyslipidaemia as early as 4 weeks of age, and developed a complete loss of normal β-cell function by 16 weeks of age. Metabolic phenotyping of the POKO model has led to investigation of the structural and functional changes in the kidney and changes in blood pressure in these mice. Here we demonstrate that the POKO mouse is a model of renal disease that is accelerated by high levels of glucose and lipid accumulation. Similar to ob/ob mice, at 4 weeks of age these animals exhibited an increased urinary albumin:creatinine ratio and significantly increased blood pressure, but in contrast showed a significant increase in the renal hypertrophy index and an associated increase in p27(Kip1) expression compared with their obese littermates. Moreover, at 4 weeks of age POKO mice showed insulin resistance, an alteration of lipid metabolism and glomeruli damage associated with increased transforming growth factor beta (TGFβ) and parathyroid hormone-related protein (PTHrP) expression. At this age, levels of proinflammatory molecules, such as monocyte chemoattractant protein-1 (MCP-1), and fibrotic factors were also increased at the glomerular level compared with levels in ob/ob mice. At 12 weeks of age, renal damage was fully established. These data suggest an accelerated lesion through glucolipotoxic effects in the renal pathogenesis in POKO mice.

  19. Accelerated renal disease is associated with the development of metabolic syndrome in a glucolipotoxic mouse model

    Directory of Open Access Journals (Sweden)

    Cristina Martínez-García

    2012-09-01

    Individuals with metabolic syndrome are at high risk of developing chronic kidney disease (CKD through unclear pathogenic mechanisms. Obesity and diabetes are known to induce glucolipotoxic effects in metabolically relevant organs. However, the pathogenic role of glucolipotoxicity in the aetiology of diabetic nephropathy is debated. We generated a murine model, the POKO mouse, obtained by crossing the peroxisome proliferator-activated receptor gamma 2 (PPARγ2 knockout (KO mouse into a genetically obese ob/ob background. We have previously shown that the POKO mice showed: hyperphagia, insulin resistance, hyperglycaemia and dyslipidaemia as early as 4 weeks of age, and developed a complete loss of normal β-cell function by 16 weeks of age. Metabolic phenotyping of the POKO model has led to investigation of the structural and functional changes in the kidney and changes in blood pressure in these mice. Here we demonstrate that the POKO mouse is a model of renal disease that is accelerated by high levels of glucose and lipid accumulation. Similar to ob/ob mice, at 4 weeks of age these animals exhibited an increased urinary albumin:creatinine ratio and significantly increased blood pressure, but in contrast showed a significant increase in the renal hypertrophy index and an associated increase in p27Kip1 expression compared with their obese littermates. Moreover, at 4 weeks of age POKO mice showed insulin resistance, an alteration of lipid metabolism and glomeruli damage associated with increased transforming growth factor beta (TGFβ and parathyroid hormone-related protein (PTHrP expression. At this age, levels of proinflammatory molecules, such as monocyte chemoattractant protein-1 (MCP-1, and fibrotic factors were also increased at the glomerular level compared with levels in ob/ob mice. At 12 weeks of age, renal damage was fully established. These data suggest an accelerated lesion through glucolipotoxic effects in the renal pathogenesis in POKO mice.

  20. A case of minimal change nephrotic syndrome with acute renal failure complicating Hashimotoâs disease.

    Science.gov (United States)

    Iwazu, Y; Nemoto, J; Okuda, K; Nakazawa, E; Hashimoto, A; Fujio, Y; Sakamoto, M; Ando, Y; Muto, S; Kusano, E

    2008-01-01

    A 63-year-old man was admitted to our hospital for evaluation of generalized edema. Coexistence of severe hypothyroidism and nephrotic syndrome was detected by laboratory examination. High titer of both antimicrosomal antibody and antithyroid peroxidase antibody indicated Hashimotoâs disease. Renal biopsy showed minimal change glomerular abnormality, but no findings of membranous nephropathy. A series of medical treatments, including steroid therapy, thyroid hormone and human albumin replacement therapy, were administered. However, acute renal failure accompanied by hypotension, was not sufficiently prevented. After 9 sessions of plasmapheresis therapy, the severe proteinuria and low serum albumin levels were improved. Even after resting hypotension was normalized, neither renal function nor thyroid function were fully recovered. After discharge, renal function gradually returned to normal, and the blood pressure developed into a hypertensive state concomitant with the normalization of thyroid function. This report is a rare case of autoimmune thyroid disease complicated with minimal change nephrotic syndrome. In most cases of nephritic syndrome, acute renal failure (ARF) has been reported to coexist with hypertension. Although pseudohypothyroidism is well-known in nephrotic pathophysiology, complications of actual hypothyroidism are uncommon. It is suggested that the development of hypotension and ARF could be enhanced not only by hypoproteinemia, but also by severe hypothyroidism.

  1. Case report of a novel mutation of the EYA1 gene in a patient with branchio-oto-renal syndrome.

    Science.gov (United States)

    Spahiu, L; Merovci, B; Ismaili Jaha, V; Batalli Këpuska, A; Jashari, H

    2016-12-01

    Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder characterized by the coexistence of branchial cysts or fistulae, external ear malformation with pre-auricular pits or tags, hearing impairment and renal malformations. However, the presence of the main features varies in affected families. Here, we present a 16-year-old boy admitted to the Department of Nephrology at the Pediatric Clinic, University Clinical Center of Kosovo, Pristina, Republic of Kosovo because of severe renal insufficiency diagnosed 6 years ago, which progressed to end-stage renal failure. Clinical examination on readmission showed a pale, lethargic and edematous child, with auricular deformity, pre-auricular tags and pits as well as bilateral branchial fistulae. Laboratory tests revealed high blood urea nitrogen (BUN) 15.96 mmol/L and serum creatinine 633.0 µmol/L; low glomerular filtration rate (GFR) 12 mL/min./ 1.73 m(2) and massive proteinuria 4+. Abdominal ultrasound showed bilateral kidney hypoplasia. A novel mutation of the EYA1 gene was confirmed. Daily hemodialysis is continuing until renal transplantation is done. This case is presented to increase awareness among general practitioners to consider BOR syndrome or other renal abnormalities in patients with branchial fistula and/ or external ear anomalies or similar findings in other family members.

  2. Cognitive, Affective Problems and Renal Cross Ectopy in a Patient with 48,XXYY/47,XYY Syndrome

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    Sefa Resim

    2015-01-01

    Full Text Available Klinefelter syndrome is the most common sex chromosome abnormality (SCA in infertile patients and 47,XXY genomic configuration constitutes most of the cases. However, additional Xs and/or Y such as 48,XXYY, 48,XXXY, and 47,XYY can occur less frequently than 47,XXY. Those configurations were considered as variants of Klinefelter syndrome. In this report, we present an infertile man with tall stature and decreased testicular volume. Semen analysis and hormonal evaluation supported the diagnosis of nonobstructive azoospermia. Genetic investigation demonstrated an abnormal male karyotype with two X chromosomes and two Y chromosomes consistent with 48,XXYY(17/47,XYY (13. Additionally, the patient expressed cognitive and affective problems which were documented by psychomotor retardation and borderline intelligence measured by an IQ value between 70 and 80. Systemic evaluation also revealed cross ectopy and malrotation of the right kidney in the patient. The couple was referred to microtesticular sperm extraction (micro-TESE/intracytoplasmic sperm injection (ICSI cycles and preimplantation genetic diagnosis (PGD. To the best of our knowledge, this is the first report of combination of XYY and XXYY syndromes associated with cognitive, affective dysfunction and renal malrotation.

  3. Cognitive, Affective Problems and Renal Cross Ectopy in a Patient with 48,XXYY/47,XYY Syndrome

    Science.gov (United States)

    Resim, Sefa; Kucukdurmaz, Faruk; Kankılıc, Nazım; Altunoren, Ozlem; Efe, Erkan; Benlioglu, Can

    2015-01-01

    Klinefelter syndrome is the most common sex chromosome abnormality (SCA) in infertile patients and 47,XXY genomic configuration constitutes most of the cases. However, additional Xs and/or Y such as 48,XXYY, 48,XXXY, and 47,XYY can occur less frequently than 47,XXY. Those configurations were considered as variants of Klinefelter syndrome. In this report, we present an infertile man with tall stature and decreased testicular volume. Semen analysis and hormonal evaluation supported the diagnosis of nonobstructive azoospermia. Genetic investigation demonstrated an abnormal male karyotype with two X chromosomes and two Y chromosomes consistent with 48,XXYY(17)/47,XYY (13). Additionally, the patient expressed cognitive and affective problems which were documented by psychomotor retardation and borderline intelligence measured by an IQ value between 70 and 80. Systemic evaluation also revealed cross ectopy and malrotation of the right kidney in the patient. The couple was referred to microtesticular sperm extraction (micro-TESE)/intracytoplasmic sperm injection (ICSI) cycles and preimplantation genetic diagnosis (PGD). To the best of our knowledge, this is the first report of combination of XYY and XXYY syndromes associated with cognitive, affective dysfunction and renal malrotation. PMID:26075116

  4. Reversible Posterior Leukoencephalopathy Syndrome Developing After Restart of Sunitinib Therapy for Metastatic Renal Cell Carcinoma

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    Shinji Fukui

    2016-01-01

    Full Text Available A 64-year-old Japanese man had started molecular-targeted therapy with sunitinib for lymph node metastasis 5 years after nephrectomy for left renal cell carcinoma (clear cell carcinoma, G2, pT2N0M0. He was transported to our emergency department because of generalized tonic-clonic seizure, vision loss, and impaired consciousness with acute hypertension after 8 cycles of treatment (2 years after the initiation of sunitinib therapy, including a drug withdrawal period for one year. MRI of the brain (FLAIR images showed multiple high-intensity lesions in the white matter of the occipital and cerebellar lobes, dorsal brain stem, and left thalamus. Reversible posterior leukoencephalopathy syndrome caused by sunitinib was suspected. In addition to the immediate discontinuation of sunitinib therapy, the administration of antihypertensive agents and anticonvulsants improved the clinical symptoms without neurological damage. Physicians should be aware that sunitinib causes reversible posterior leukoencephalopathy syndrome. The early recognition of reversible posterior leukoencephalopathy syndrome is critical to avoid irreversible neurological damage.

  5. Spontaneous Dissection of the Renal Artery in Vascular Ehlers-Danlos Syndrome

    Science.gov (United States)

    Pereira, Filipa; Cardoso, Teresa; Sá, Paula

    2015-01-01

    Ehlers-Danlos syndrome (EDS) is a rare heterogeneous group of connective tissue disorders. The vascular type (vEDS) is an autosomal dominant disorder caused by heterozygous mutations in the COL3A1 gene predisposing to premature arterial, intestinal, or uterine rupture. We report a case of a 38-year-old woman with a recent diagnosis of vEDS admitted in the Emergency Department with a suspicion of a pyelonephritis that evolved to a cardiopulmonary arrest. A fatal retroperitoneal hematoma related with a haemorrhagic dissection of the right renal artery was found after emergency surgery. This case highlights the need to be aware of the particular characteristics of vEDS, such as a severe vascular complication that can lead to a fatal outcome. PMID:26175915

  6. Nephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal Recessive FAM20A Mutations

    Science.gov (United States)

    Jaureguiberry, Graciana; De la Dure-Molla, Muriel; Parry, David; Quentric, Mickael; Himmerkus, Nina; Koike, Toshiyasu; Poulter, James; Klootwijk, Enriko; Robinette, Steven L.; Howie, Alexander J.; Patel, Vaksha; Figueres, Marie-Lucile; Stanescu, Horia C.; Issler, Naomi; Nicholson, Jeremy K.; Bockenhauer, Detlef; Laing, Christopher; Walsh, Stephen B.; McCredie, David A.; Povey, Sue; Asselin, Audrey; Picard, Arnaud; Coulomb, Aurore; Medlar, Alan J.; Bailleul-Forestier, Isabelle; Verloes, Alain; Le Caignec, Cedric; Roussey, Gwenaelle; Guiol, Julien; Isidor, Bertrand; Logan, Clare; Shore, Roger; Johnson, Colin; Inglehearn, Christopher; Al-Bahlani, Suhaila; Schmittbuhl, Matthieu; Clauss, François; Huckert, Mathilde; Laugel, Virginie; Ginglinger, Emmanuelle; Pajarola, Sandra; Spartà, Giuseppina; Bartholdi, Deborah; Rauch, Anita; Addor, Marie-Claude; Yamaguti, Paulo M.; Safatle, Heloisa P.; Acevedo, Ana Carolina; Martelli-Júnior, Hercílio; dos Santos Netos, Pedro E.; Coletta, Ricardo D.; Gruessel, Sandra; Sandmann, Carolin; Ruehmann, Denise; Langman, Craig B.; Scheinman, Steven J.; Ozdemir-Ozenen, Didem; Hart, Thomas C.; Hart, P. Suzanne; Neugebauer, Ute; Schlatter, Eberhard; Houillier, Pascal; Gahl, William A.; Vikkula, Miikka; Bloch-Zupan, Agnès; Bleich, Markus; Kitagawa, Hiroshi; Unwin, Robert J.; Mighell, Alan; Berdal, Ariane; Kleta, Robert

    2013-01-01

    Background/Aims Calcium homeostasis requires regulated cellular and interstitial systems interacting to modulate the activity and movement of this ion. Disruption of these systems in the kidney results in nephrocalcinosis and nephrolithiasis, important medical problems whose pathogenesis is incompletely understood. Methods We investigated 25 patients from 16 families with unexplained nephrocalcinosis and characteristic dental defects (amelogenesis imperfecta, gingival hyperplasia, impaired tooth eruption). To identify the causative gene, we performed genome-wide linkage analysis, exome capture, next-generation sequencing, and Sanger sequencing. Results All patients had bi-allelic FAM20A mutations segregating with the disease; 20 different mutations were identified. Conclusions This au-tosomal recessive disorder, also known as enamel renal syndrome, of FAM20A causes nephrocalcinosis and amelogenesis imperfecta. We speculate that all individuals with biallelic FAM20A mutations will eventually show nephrocalcinosis. PMID:23434854

  7. Antithymocyte globulin-induced acute respiratory distress syndrome after renal transplantation: a case report

    Institute of Scientific and Technical Information of China (English)

    TU Guo-wei; JU Min-jie; XU Ming; RONG Rui-ming; ZHU Tong-yu; LUO Zhe

    2012-01-01

    Antithymocyte globulin (ATG) has long been used for immune-induction and anti-rejection treatments for solid organ transplantations.To date,few cases of ATG-induced acute respiratory distress syndrome (ARDS) have been published.Here,we present a case of ARDS caused by a single low-dose of ATG in a renal transplant recipient and the subsequent treatments administered.Although the patient suffered from ARDS and delayed graft function,he was successfully treated.We emphasize that the presence of such complications should be considered when unexplained respiratory distress occurs.Early use of corticosteroids,adjustment of immunosuppressive regimens,and conservative fluid management,as well as empiric antimicrobial therapies,may be effective strategies for the treatment of ARDS caused by ATG.

  8. Spontaneous Dissection of the Renal Artery in Vascular Ehlers-Danlos Syndrome

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    Filipa Pereira

    2015-01-01

    Full Text Available Ehlers-Danlos syndrome (EDS is a rare heterogeneous group of connective tissue disorders. The vascular type (vEDS is an autosomal dominant disorder caused by heterozygous mutations in the COL3A1 gene predisposing to premature arterial, intestinal, or uterine rupture. We report a case of a 38-year-old woman with a recent diagnosis of vEDS admitted in the Emergency Department with a suspicion of a pyelonephritis that evolved to a cardiopulmonary arrest. A fatal retroperitoneal hematoma related with a haemorrhagic dissection of the right renal artery was found after emergency surgery. This case highlights the need to be aware of the particular characteristics of vEDS, such as a severe vascular complication that can lead to a fatal outcome.

  9. Metabolic acidosis and malnutrition-inflammation complex syndrome in chronic renal failure.

    Science.gov (United States)

    Kalantar-Zadeh, Kamyar; Mehrotra, Rajnish; Fouque, Denis; Kopple, Joel D

    2004-01-01

    Metabolic acidosis, a common condition in patients with renal failure, may be linked to protein-energy malnutrition (PEM) and inflammation, together also known as malnutrition-inflammation complex syndrome (MICS). Methods of serum bicarbonate measurement may misrepresent the true bicarbonate level, since the total serum carbon dioxide measurement usually overestimates the serum bicarbonate concentration. Moreover, the air transportation of blood samples to distant laboratories may lead to erroneous readings. In patients with chronic kidney disease (CKD) or end-stage renal disease (ESRD), a significant number of endocrine, musculoskeletal, and metabolic abnormalities are believed to result from acidemia. Metabolic acidosis may be related to PEM and MICS due to an increased protein catabolism, decreased protein synthesis, endocrine abnormalities including insulin resistance, decreased serum leptin level, and inflammation among individuals with renal failure. Evidence suggests that the catabolic effects of metabolic acidosis may result from an increased activity of the adenosine triphosphate (ATP)-dependent ubiquitin-proteasome and branched-chain keto acid dehydrogenase. In contrast to the metabolic studies, many epidemiologic studies in maintenance dialysis patients have indicated a paradoxically inverse association between mildly decreased serum bicarbonate and improved markers of protein-energy nutritional state. Hence metabolic acidosis may be considered as yet another element of the reverse epidemiology in ESRD patients. Interventional studies have yielded inconsistent results in CKD and ESRD patients, although in peritoneal dialysis patients, mitigating acidemia appears to more consistently improve nutritional status and reduce hospitalizations. Large-scale, prospective randomized interventional studies are needed to ascertain the potential benefits of correcting acidemia in malnourished and/or inflamed CKD and maintenance hemodialysis patients. Until then, all

  10. Syndrome of rapid onset end stage renal disease in incident Mayo Clinic chronic hemodialysis patient

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    M. A. C. Onuigbo

    2014-01-01

    Full Text Available Despite decades of research, a full understanding of chronic kidney disease (CKD-end stage renal disease (ESRD progression remains elusive. The common consensus is a predictable, linear, progressive and time-dependent decline of CKD to ESRD. Acute kidney injury (AKI on CKD is usually assumed to be transient, with recovery as the expected outcome. AKI-ESRD association in current nephrology literature is blamed on the so-called "residual confounding." We had previously described a relationship between AKI events and rapid onset yet irreversible ESRD happening in a continuum in a high-risk CKD cohort. However, the contribution of the syndrome of rapid onset-ESRD (SORO-ESRD to incident United States ESRD population remained conjectural. In this retrospective analysis, we analyzed serum creatinine trajectories of the last 100 consecutive ESRD patients in 4 Mayo Clinic chronic hemodialysis units to determine the incidence of SORO-ESRD. Excluding 9 patients, 31 (34% patients, including two renal transplant recipients, had SORO-ESRD: 18 males and 13 females age 72 (range 50-92 years. Precipitating AKI followed pneumonia (8, acutely decompensated heart failure (7, pyelonephritis (4, post-operative (5, sepsis (3, contrast-induced nephropathy (2, and others (2. Time to dialysis was shortest following surgical procedures. Concurrent renin angiotensin aldosterone system blockade was higher with SORO-ESRD - 23% versus 5%, P = 0.0113. In conclusion, SORO-ESRD is not uncommon among the incident general US ESRD population. The implications for ESRD care planning, AV-fistula-first programs, general CKD care and any associations with renal ageing/senescence warrant further study.

  11. Clinical management of restless legs syndrome in end-stage renal disease patients.

    Science.gov (United States)

    Sahli, Zeyad T; Jo, Jae; Mousa, Shaker A; Tarazi, Frank I

    2017-02-01

    Restless legs syndrome (RLS) is a common neurological movement disorder, characterized by restless and unpleasant sensations in the deep inside of legs. The symptoms of RLS are less noticeable during daytime, but more prevalent at night. Therefore, the disorder can induce low quality of life, insomnia, and impairment of daytime activity. RLS in end-stage renal disease (ESRD) patients is especially problematic due to premature discontinuation of dialysis and increased mortality. The prevalence of RLS among dialysis patients is much higher compared to the prevalence of the same disorder in patients with normal renal functions. Even though there are recommended treatment guidelines for the general population established by Medical Advisory Board of the RLS foundation, which include the use of dopamine agonists, levodopa, gabapentin, benzodiazepines, and opioids, limited information is available on the effects of these therapies in ESRD patients. Since the existing clinical data were extrapolated from small sample sizes in short-term clinical trials, further clinical studies are still needed to better assess the efficacy, safety, and tolerability of these medications in patients with ESRD.

  12. Acute respiratory distress syndrome and acute renal failure from Plasmodium ovale infection with fatal outcome.

    Science.gov (United States)

    Lau, Yee-Ling; Lee, Wenn-Chyau; Tan, Lian-Huat; Kamarulzaman, Adeeba; Syed Omar, Sharifah Faridah; Fong, Mun-Yik; Cheong, Fei-Wen; Mahmud, Rohela

    2013-11-04

    Plasmodium ovale is one of the causative agents of human malaria. Plasmodium ovale infection has long been thought to be non-fatal. Due to its lower morbidity, P. ovale receives little attention in malaria research. Two Malaysians went to Nigeria for two weeks. After returning to Malaysia, they fell sick and were admitted to different hospitals. Plasmodium ovale parasites were identified from blood smears of these patients. The species identification was further confirmed with nested PCR. One of them was successfully treated with no incident of relapse within 12-month medical follow-up. The other patient came down with malaria-induced respiratory complication during the course of treatment. Although parasites were cleared off the circulation, the patient's condition worsened. He succumbed to multiple complications including acute respiratory distress syndrome and acute renal failure. Sequencing of the malaria parasite DNA from both cases, followed by multiple sequence alignment and phylogenetic tree construction suggested that the causative agent for both malaria cases was P. ovale curtisi. In this report, the differences between both cases were discussed, and the potential capability of P. ovale in causing severe complications and death as seen in this case report was highlighted. Plasmodium ovale is potentially capable of causing severe complications, if not death. Complete travel and clinical history of malaria patient are vital for successful diagnoses and treatment. Monitoring of respiratory and renal function of malaria patients, regardless of the species of malaria parasites involved is crucial during the course of hospital admission.

  13. Immunohistochemical diagnosis of Alport's syndrome in paraffin-embedded renal sections: antigen retrieval with autoclave heating.

    Science.gov (United States)

    Naito, Ichiro; Ninomiya, Yoshifumi; Nomura, Shinsuke

    2003-03-01

    Alport's syndrome (AS) is a hereditary renal disease caused by mutations in the genes encoding collagen type IV. Immunohistochemical analysis of the alpha chains of collagen type IV has been found to be useful for the diagnosis of this disease. The monoclonal antibodies (mAbs) generated by us recognize alpha 1(IV) through alpha 6(IV) chains of collagen type IV on fresh-frozen sections but not on paraffin-embedded sections. Antigen retrieval by autoclave heating has been found to restore the epitopes recognized by the mAbs; however the heating conditions had not been well established. In this study, the heating conditions were carefully examined using renal sections obtained from AS and non-AS patients. The heating was performed in an autoclave, at 105 degrees -127 degrees C for 6-8 min. During the heating, the sections were immersed in 0.2 N HCl solution (pH 0.9). Then, the mAbs were applied for 30 min, and the bound mAbs were detected using the LSAB kit. The optimal temperature for the antigen retrieval varied among specimens, and was dependent on the type of basement membrane examined. Thus, it was considered that heating at two or three different temperatures could be helpful for the precise diagnosis of AS. Adopting the antigen retrieval method could extend the possibility of immunohistochemical diagnosis of AS to cases without using fresh-frozen sections.

  14. FAM20A mutations can cause enamel-renal syndrome (ERS.

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    Shih-Kai Wang

    Full Text Available Enamel-renal syndrome (ERS is an autosomal recessive disorder characterized by severe enamel hypoplasia, failed tooth eruption, intrapulpal calcifications, enlarged gingiva, and nephrocalcinosis. Recently, mutations in FAM20A were reported to cause amelogenesis imperfecta and gingival fibromatosis syndrome (AIGFS, which closely resembles ERS except for the renal calcifications. We characterized three families with AIGFS and identified, in each case, recessive FAM20A mutations: family 1 (c.992G>A; g.63853G>A; p.Gly331Asp, family 2 (c.720-2A>G; g.62232A>G; p.Gln241_Arg271del, and family 3 (c.406C>T; g.50213C>T; p.Arg136* and c.1432C>T; g.68284C>T; p.Arg478*. Significantly, a kidney ultrasound of the family 2 proband revealed nephrocalcinosis, revising the diagnosis from AIGFS to ERS. By characterizing teeth extracted from the family 3 proband, we demonstrated that FAM20A(-/- molars lacked true enamel, showed extensive crown and root resorption, hypercementosis, and partial replacement of resorbed mineral with bone or coalesced mineral spheres. Supported by the observation of severe ectopic calcifications in the kidneys of Fam20a null mice, we conclude that FAM20A, which has a kinase homology domain and localizes to the Golgi, is a putative Golgi kinase that plays a significant role in the regulation of biomineralization processes, and that mutations in FAM20A cause both AIGFS and ERS.

  15. Posterior Nutcracker Syndrome with Left Renal Vein Duplication: A Rare Cause of Haematuria in a 12-Year-Old Boy

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    J. Preza Fernandes

    2012-01-01

    Full Text Available The nutcracker syndrome (NCS is a rare cause of haematuria. It embraces an extended nonpathognomonic spectrum of symptoms that imply a difficult diagnosis. Ultimately it may be associated with substantial morbidity and even life-threatening events. We report a rare cause if a 12-year-old boy who presented with a history of frequent intermittent episodes of painless constant haematuria. The cystoscopy showed a bloody urine ejaculate from the left ureter meatus. The Doppler ultrasonography showed turbulent pattern of venous blood flow of the posterior renal vein branch behind the aorta. The abdominopelvic computer tomography (apCT revealed left renal vein (LRV duplication with a dilated retroaortic branch, entrapped between the aorta and the vertebral column, promoting the renal nutcracker syndrome. The patient was initially hospitalized and managed with oral iron supplements and continuous saline bladder irrigation, not requiring additional treatment. The child is currently asymptomatic, with haemoglobin value returning to normal and therefore proposed to conservative management with close followup. The authors present a case report of episodic haematuria caused by a rare entity—posterior nutcracker syndrome with renal vein duplication.

  16. Birt-Hogg-Dubé syndrome with a renal angiomyolipoma: further evidence of a relationship between Birt-Hogg-Dubé syndrome and tuberous sclerosis complex.

    Science.gov (United States)

    Byrne, Marguerite; Mallipeddi, Raj; Pichert, Gabriella; Whittaker, Sean

    2012-05-01

    Birt-Hogg-Dubé syndrome (BHDS) is an autosomal dominant condition caused by mutations in the gene which codes for folliculin (FLCN). It is characterised clinically by fibrofolliculomas, trichodiscomas, pulmonary cysts, spontaneous pneumothoraces and renal cancers. This case illustrates a patient with BHDS and a renal angiomyolipoma. Angiomyolipomas are not described as a feature of BHDS, but rather they can occur sporadically or in tuberous sclerosis complex (TSC). Recent studies suggest that clinical similarities between BHDS and TSC may be explained by FLCN and TSC proteins functioning on a common pathway, mammalian target of rapamycin. This case adds to the literature of cases with clinical similarities.

  17. [Middle ear salivary gland choristoma related to branchio-oto-renal syndrome diagnosed by array-CGH].

    Science.gov (United States)

    Amrhein, P; Sittel, C; Spaich, C; Kohlhase, J; Boppert, R; Kohlhof, P; Koitschev, A

    2014-05-01

    Branchio-oto-renal (BOR) syndrome is characterized by ear malformations associated with sensorineural or mixed hearing loss. In addition, preauricular tags, preauricular pits, branchial cleft fistulas and cysts, as well as renal dysplasia are seen. A genetic mutation on chromosome 8, either autosomal dominantly inherited or occuring as a spontaneous mutation, is the cause in the majority of cases. Using array-based comparative genomic hybridization (CGH), it is possible to detect even the smallest genetic changes. Salivary gland choristoma in the middle ear is very rare. Surgical removal and histological clarification are required.

  18. Delusional Infestation in a Patient with Renal Failure, Metabolic Syndrome, and Chronic Cerebrovascular Disease Treated with Aripiprazole: A Case Report

    Science.gov (United States)

    Carpiniello, Bernardo; Pinna, Federica; Tuveri, Raffaella

    2011-01-01

    Delusional infestation is an aspecific psychiatric condition manifested either as a primary psychotic disorder or a secondary disorder induced by a wide range of very different medical conditions. Both primary and secondary delusional infestations seem to respond to typical and atypical antipsychotics. The latter are considered the first-line treatment although the use of second-generation antipsychotics featuring a higher metabolic, cardiovascular, and renal tolerability is preferable in secondary cases, which often occur in patients with multiple, severe medical conditions. We report a case of a 72-year-old patient affected by delusional infestation associated with severe renal failure, metabolic syndrome, hypertensive cardiopathy, and chronic cerebrovascular disease. PMID:22174718

  19. Delusional Infestation in a Patient with Renal Failure, Metabolic Syndrome, and Chronic Cerebrovascular Disease Treated with Aripiprazole: A Case Report

    Directory of Open Access Journals (Sweden)

    Bernardo Carpiniello

    2011-01-01

    Full Text Available Delusional infestation is an aspecific psychiatric condition manifested either as a primary psychotic disorder or a secondary disorder induced by a wide range of very different medical conditions. Both primary and secondary delusional infestations seem to respond to typical and atypical antipsychotics. The latter are considered the first-line treatment although the use of second-generation antipsychotics featuring a higher metabolic, cardiovascular, and renal tolerability is preferable in secondary cases, which often occur in patients with multiple, severe medical conditions. We report a case of a 72-year-old patient affected by delusional infestation associated with severe renal failure, metabolic syndrome, hypertensive cardiopathy, and chronic cerebrovascular disease.

  20. Can Kallmann syndrome be occasionally diagnosed during childhood? Genetic diagnosis in a child with associated renal agenesis and mirror movements

    Institute of Scientific and Technical Information of China (English)

    Neoklis A. Georgopoulos; Vasiliki Koika; Petros Varmavas; Alexandra Efthymiadou; Dimitra J. Marioli; Stefanos Mantagos; Dionysios Chrysis

    2009-01-01

    @@ Dear Sir, I am Neoklis A. Georgopoulos, from Department of Obstetrics and Gynaecology, Division of Reproductive Endocrinology, University of Patras Medical School,Greece. We present an early prepubertal diagnosis of Kallmann syndrome (KS) in a child with anosmia, renal agenesis and mirror movements. KS is a congenital defect characterized by the presence of hypogonadotropic hypogonadism and anosmia or hyposmia [1].Besides hypogonadism and anosmia, the clinical phenotype is characterized by the presence of other associated features, including, among others, mirror movements (synkinesis), cleft palate and renal agenesis/dysgenesis.

  1. A case of Noonan`s syndrome with terminal renal failure and neoplasmic disease; Przypadek zespolu Noonan z niewydolnoscia nerek i rozrostem nowotworowym

    Energy Technology Data Exchange (ETDEWEB)

    Wierzbowska-Lange, B.; Sieniawska, M.; Polanski, J.; Kisiel, M. [Akademia Medyczna, Warsaw (Poland)

    1993-12-31

    A 16 year old boy with Noonan syndrome diagnosed in the 3rd month of life was treated for renal insufficiency and hepatic tumor. Hemodialisis was started in preparation for surgery. Exacerbation of renal insufficiency occurred after surgical removal of the hepatic tumor together with the right hepatic lobe. Histopathologic examination showed adenoma hepatocellulare. Cysts in the extraperitoneal space appeared in the following months and were identified as cystes dysontogenetici benigni ``hamartia``. Renal function deteriorated during this time to end stage renal disease. The authors emphasize the possibility of good mental development in a patients with Noonan syndrome as well as the presence of urinary tract abnormalities and renal insufficiency of unknown origin - a phenomenon that has not yet been reported in other cases of Noonan syndrome. (author) 11 refs, 1 fig

  2. Posterior Reversible Encephalopathy Syndrome in Two Omani Children with Underlying Renal Diseases

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    Mohamed A. El-Naggari

    2015-08-01

    Full Text Available Posterior reversible encephalopathy syndrome (PRES is a neurological condition with a combination of clinical and radiological features. Clinical symptoms include headaches, confusion, seizures, disturbed vision or an altered level of consciousness. Classic magnetic resonance imaging (MRI findings indicate subcortical and cortical oedema, affecting mainly the posterior cerebral region. We report two paediatric cases of PRES with underlying renal diseases presenting at the Sultan Qaboos University Hospital in Muscat, Oman, in April 2010 and August 2011. The first case was an 11-year-old girl diagnosed with systemic lupus erythematosus and the second was a six-and-a-half-year-old boy on peritoneal dialysis due to multi-drug-resistant nephrotic syndrome. Both patients were hypertensive and treated with blood pressure control medications. No residual neurological dysfunction was noted in the patients at a one-year follow-up and at discharge, respectively. The role of hypertension in paediatric PRES cases, among other important risk factors, is emphasised. Additionally, MRI is an important diagnostic and prognostic tool. Prompt diagnosis and aggressive management is fundamental to preventing permanent neurological damage.

  3. Intratumoral peripheral small papillary tufts: a diagnostic clue of renal tumors associated with Birt-Hogg-Dubé syndrome.

    Science.gov (United States)

    Kuroda, Naoto; Furuya, Mitsuko; Nagashima, Yoji; Gotohda, Hiroko; Moritani, Suzuko; Kawakami, Fumi; Imamura, Yoshiaki; Bando, Yoshimi; Takahashi, Masayuki; Kanayama, Hiro-omi; Ota, Satoshi; Michal, Michal; Hes, Ondrej; Nakatani, Yukio

    2014-06-01

    In this article, we searched for the common histologic characteristic of renal tumors in patients with Birt-Hogg-Dubé syndrome (BHDS). We selected 6 patients with histologically confirmed renal tumor in BHDS. Germline FLCN gene mutation has been identified in 5 patients. Multifocality and bilaterality of the renal tumors were pathologically or radiologically confirmed in 5 and 2 cases, respectively. Histologic subtypes of the dominant tumor included 3 previously described hybrid oncocytic tumors, one composite chromophobe/papillary/clear cell renal cell carcinoma (RCC) and one unclassified RCC resembling hybrid chromophobe/clear cell RCC. In one case, chromophobe RCC and clear cell RCC were separately observed. Small papillary lesions located in the peripheral area of the tumor, which we designated as intratumoral peripheral small papillary tufts, were identified in all patients. In conclusion, multifocality/bilaterality of renal tumors, discordance of histologic subtypes, and the presence of intratumoral peripheral small papillary tufts may be important clues to identify BHDS-associated renal tumors.

  4. Branchio-oto-renal syndrome plus; a contiguous gene constellation of congenital anomalies?

    Energy Technology Data Exchange (ETDEWEB)

    Kelly, T.E. [Univ. of Virginia Health Sciences Center, Charlottesville, VA (United States)

    1994-09-01

    A term female infant was referred to the University Hospital because of respiratory distress secondary to bilateral choanal stenosis. Her examination revealed bilateral pre-auricular pits, branchial fistulae, cupped shaped ears, and bilateral athelia. She failed ABR screening; her creatinine was elevated to 1.5 mgs% and renal ultra-sonography showed reduced kidney size bilaterally. She was the product of her mother`s third pregnancy. The first produced a now normal 5 year old son. The second pregnancy was complicated by oligohydramnios and resulted in a premature delivery at 27 weeks gestation. The infant expired secondary to pulmonary hypoplasia. The mother had bilateral neurosensory deafness, pre-auricular pits, cupped shaped ears, lacrimal stenois and bilateral athelia. She wore dentures having earlier been diagnosed with dentogeneis imperfecta. She was shorter than her three normal sisters and had experienced academic problems throughout her school years. The maternal grandfather had an adult onset neurosensory hearing loss, but he and the maternal grandmother exhibited no other features of the BOR syndrome. Althelia was present only in the mother and daughter. The mother clearly has BOR syndrome transmitted to one, and possibly two, of her three offspring. The additional features of athelia, choanal stenosis and dentogenesis imperfecta are thought to represent additional autosomal dominant traits. Greenberg described an infant with athelia and choanal atresia. By family linkage studies, the BOR syndrome has been mapped to 8q13-21 with no recombination observed with loci D8S530 and D8S279. Given a normal prophase karyotype in the proband, it is speculated that a sub-microscopic deletion at 8q13-21 is the likely basis for the constellation of birth defects seen in this mother and daughter. Analysis of D8S530 and D8S279 is currently underway in this family.

  5. Pulmonary-renal syndromes: Experience from an Indian Intensive Care Unit

    Directory of Open Access Journals (Sweden)

    Srinivas Rajagopala

    2015-01-01

    Full Text Available Background: The etiology of patients presenting with pulmonary-renal syndrome (PRS to Intensive Care Units (ICUs in India is not previously reported. Aims: The aim was to describe the prevalence, etiology, clinical manifestations, and outcomes of PRS in an Indian ICU and identify variables that differentiate immunologic causes of PRS from tropical syndromes presenting with PRS. Materials and Methods: We conducted a prospective observational study of all patients presenting with PRS over 1-year. Clinical characteristics of patients with "definite PRS" were compared with those with "PRS mimics." Results: We saw 27 patients with "provisional PRS" over the said duration; this included 13 patients with "definite PRS" and 14 with "PRS mimics." The clinical symptoms were similar, but patients with PRS were younger and presented with longer symptom duration. Ninety-two percent of the PRS cohort required mechanical ventilation, 77% required vasopressors and 61.5% required dialysis within 48 h of ICU admission. The etiologic diagnosis of PRS was made after ICU admission in 61.5%. Systemic lupus erythrematosus (54% was the most common diagnosis. A combination of biopsy and serology was needed in the majority (69%, 9/13. Pulse methylprednisolone (92% and cyclophosphamide (61.5% was the most common protocol employed. Patients with PRS had more alveolar hemorrhage, hypoxemia and higher mortality (69% when compared to "PRS mimics." Conclusion: The spectrum of PRS is different in the tropics and tropical syndromes presenting with PRS are not uncommon. Multicentric studies are needed to further characterize the burden, etiology, treatment protocols, and outcomes of PRS in India.

  6. The role of genetic nephropathies in the formation of chronic renal failure in children (a clinical observation of a child with acrorenal syndrome

    Directory of Open Access Journals (Sweden)

    M.A. Gonchar

    2017-08-01

    Full Text Available In the article, the authors analyze the literature, as well as the results of their own long-term experience in the diagnosis of genetically determined renal diseases accompanied by the development of chronic renal failure. The main causes of diseases, the principles of their diagnosis and treatment were outlined. Clinical observation of a patient with acrorenal syndrome with complicated development of chronic renal failure is given.

  7. Diagnosis of nutcracker syndrome of the left renal vein. Value of the corticomedullary phase of helical CT

    Energy Technology Data Exchange (ETDEWEB)

    Igari, Hidenori [Yokohama Comprehensive Care Continuum (Japan)

    2001-05-01

    The clinical significance of the corticomedullary phase of helical CT in the diagnosis of nutcracker syndrome of the left renal vein (LRV) was evaluated. A total of 38 patients with hematuria of unknown origin (12 men and 26 women, mean age 24 years [range: 18-32 years]) were examined by helical CT of the kidneys, retrograde left renal venography, and measurement of renocaval pressure gradients. The sensitivity and specificity of the corticomedullary and nephrographic phases of helical CT for detecting the nutcracker syndrome were determined. The nutcracker syndrome was diagnosed on the basis of the renography findings combined with pressure measurements in 19 patients: 12 with LRV hypertension and collateral veins, 1 with hypertension and no collateral veins, and 6 with collateral veins and normal pressure gradients or borderline hypertension. Both the corticomedullary- and nephrographic-phase images revealed distended LRVs in 26 (68%) of the 38 patients. The LRV mean attenuation values in the corticomedullary phase (164{+-}22 Hounsfield units [H], range: 138-209 H) was significantly greater (p<0.001) than in the nephrographic phase (80{+-}14 H, range: 62-100 H). During the corticomedullary phase, opacified blood from the renal vein was mixed with unopacified blood in the IVC. In the nephrographic phase, however, the IVC was enhanced homogeneously, but only slightly. Corticomedullary-phase imaging detected collateral veins that exhibited early enhancement, indicating retrograde flow from the LRVs in 15 out of 18 patients (83% of those with collateral veins), while the nephrographic-phase imaging revealed collateral veins in 8 patients (44% of those with collateral veins). The sensitivity and specificity of the corticomedullary-phase scan for detecting the nutcracker syndrome were 79% and 100%, respectively, as opposed to 42% and 100%, respectively, for the nephrographic phase. Retrograde flow from the LRV into the collateral veins in the corticomedullary phase is

  8. Renal cancer and pneumothorax risk in Birt-Hogg-Dubé syndrome; an analysis of 115 FLCN mutation carriers from 35 BHD families

    NARCIS (Netherlands)

    A.C. Houweling; L.M. Gijezen; M.A. Jonker; M.B.A. van Doorn; R.A. Oldenburg; K.Y. van Spaendonck-Zwarts; E.M. Leter; T.A. van Os; N.C.T. van Grieken; E.H. Jaspars; M.M. de Jong; E.M.H.F. Bongers; P.C. Johannesma; P.E. Postmus; R.J.A. van Moorselaar; J.H.T.M. van Waesberghe; T.M. Starink; M.A.M. van Steensel; J.J.P. Gille; F.H. Menko

    2011-01-01

    Birt-Hogg-Dubé (BHD) syndrome is an autosomal dominant condition caused by germline FLCN mutations, and characterised by fibrofolliculomas, pneumothorax and renal cancer. The renal cancer risk, cancer phenotype and pneumothorax risk of BHD have not yet been fully clarified. The main focus of this st

  9. Renal cancer and pneumothorax risk in Birt-Hogg-Dubé syndrome; An analysis of 115 FLCN mutation carriers from 35 BHD families

    NARCIS (Netherlands)

    A.C. Houweling (Arjan); L.M. Gijezen (L.); M.A. Jonker (Marianne); M.B. van Doorn (Martijn); R.A. Oldenburg (Rogier); K.Y. van Spaendonck-Zwarts (Karin); E.M. Leter (Edward); T.A.M. van Os (Theo); N.C.T. Grieken (Nicole); J.J. Jaspars (Joris); M.M. de Jong (Mirjam); E. Bongers (Ernie); P.C. Johannesma (P.); D. Postmus (Douwe); R.J.A. van Moorselaar; J.-H. van Waesberghe (J.); T.M. Starink; M.A.M. van Steensel; J.J. Gille (Johan); F. Menko

    2011-01-01

    textabstractBackground: Birt-Hogg-Dubé (BHD) syndrome is an autosomal dominant condition caused by germline FLCN mutations, and characterised by fibrofolliculomas, pneumothorax and renal cancer. The renal cancer risk, cancer phenotype and pneumothorax risk of BHD have not yet been fully clarified. T

  10. Renal cancer and pneumothorax risk in Birt-Hogg-Dube syndrome; an analysis of 115 FLCN mutation carriers from 35 BHD families

    NARCIS (Netherlands)

    Houweling, A. C.; Gijezen, L. M.; Jonker, M. A.; van Doorn, M. B. A.; Oldenburg, R. A.; van Spaendonck-Zwarts, K. Y.; Leter, E. M.; van Os, T. A.; van Grieken, N. C. T.; Jaspars, E. H.; de Jong, M. M.; Johannesma, P. C.; Postmus, P. E.; van Moorselaar, R. J. A.; van Waesberghe, J-H T. M.; Starink, T. M.; van Steensel, M. A. M.; Gille, J. J. P.; Menko, F. H.; Bongers, Ernie M. H. F.

    2011-01-01

    BACKGROUND: Birt-Hogg-Dube (BHD) syndrome is an autosomal dominant condition caused by germline FLCN mutations, and characterised by fibrofolliculomas, pneumothorax and renal cancer. The renal cancer risk, cancer phenotype and pneumothorax risk of BHD have not yet been fully clarified. The main focu

  11. Branchio-Oto-Renal Syndrome: Detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, sequencing and MLPA analyses

    DEFF Research Database (Denmark)

    Sanggard, Kirsten Marie; Rendtorff, Nanna Dahl; Kjaer, Klaus Wilbrandt

    2007-01-01

    The branchio-oto-renal (BOR) syndrome is an autosomal-dominant disorder characterized by hearing loss, branchial and renal anomalies. BOR is genetically heterogeneous and caused by mutations in EYA1 (8q13.3), SIX1 (14q23.1), SIX5 (19q13.3) and in an unidentified gene on 1q31. We examined six Danish...

  12. Thyroid, Renal, and Breast Carcinomas, Chondrosarcoma, Colon Adenomas, and Ganglioneuroma: A New Cancer Syndrome, FAP, or Just Coincidence

    Directory of Open Access Journals (Sweden)

    Ihab Shafek Atta

    2016-01-01

    Full Text Available We are presenting a case associated with papillary thyroid carcinoma, renal cell carcinoma, invasive mammary carcinoma, chondrosarcoma, benign ganglioneuroma, and numerous colon adenomas. The patient had a family history of colon cancer, kidney and bladder cancers, lung cancer, thyroid cancer, leukemia, and throat and mouth cancers. She was diagnosed with colonic villous adenoma at the age of 41 followed by thyroid, renal, and breast cancers and chondrosarcoma at the ages of 48, 64, 71, and 74, respectively. Additionally, we included a table with the most common familial cancer syndromes with one or more benign or malignant tumors diagnosed in our case, namely, FAP, HNPCC, Cowden, Peutz-Jeghers, renal cancer, tuberous sclerosis, VHL, breast/other, breast/ovarian, Carney, Werner’s, Bloom, Li-Fraumeni, xeroderma pigmentosum, ataxia-telangiectasia, osteochondromatosis, retinoblastoma, and MEN2A.

  13. Gemcitabine-induced hemolytic uremic syndrome mimicking scleroderma renal crisis presenting with Raynaud's phenomenon, positive antinuclear antibodies and hypertensive emergency.

    Science.gov (United States)

    Yamada, Yuichiro; Suzuki, Keisuke; Nobata, Hironobu; Kawai, Hirohisa; Wakamatsu, Ryo; Miura, Naoto; Banno, Shogo; Imai, Hirokazu

    2014-01-01

    A 58-year-old woman who received gemcitabine for advanced gallbladder cancer developed an impaired renal function, thrombocytopenia, Raynaud's phenomenon, digital ischemic changes, a high antinuclear antibody titer and hypertensive emergency that mimicked a scleroderma renal crisis. A kidney biopsy specimen demonstrated onion-skin lesions in the arterioles and small arteries along with ischemic changes in the glomeruli, compatible with a diagnosis of hypertensive emergency (malignant hypertension). The intravenous administration of a calcium channel blocker, the oral administration of an angiotensin-converting enzyme inhibitor and angiotensin II receptor blocker and the transfusion of fresh frozen plasma were effective for treating the thrombocytopenia and progressive kidney dysfunction. Gemcitabine induces hemolytic uremic syndrome with accelerated hypertension and Raynaud's phenomenon, mimicking scleroderma renal crisis.

  14. Nephrocalcinosis and Renal Failure in Lesch-Nyhan Syndrome: Report of Two Familial Cases and Review of the Literature.

    Science.gov (United States)

    Vargiami, Euthymia; Printza, Nikoleta; Papadimiditriou, Eleni; Batzios, Spyros; Kyriazi, Maria; Papachristou, Fotios; Zafeiriou, Dimitrios I

    2016-11-01

    Lesch-Nyhan syndrome is an X-linked recessive inborn error of purine metabolism, due to deficiency of the enzyme HPRT (hypoxanthine-guanine phosphoribosyl transferase) and underlying HPRT gene mutations (over 300 mutations identified up to date). It is characterized by a wide range of neurological symptoms and signs (mainly a combination of spastic diplegia with choreoathetosis and an overall psychomotor redardation). Herein, we report of two cousins with Lesch-Nyhan syndrome and a confirmed novel HPRT gene mutation: c.65T>C, who both developed nephrocalcinosis and renal failure, findings not been previously published in children with HPRT deficiency. Copyright © 2016 Elsevier Inc. All rights reserved.

  15. [Acute necrotizing capillaritis in an adolescent dying from a a Goodpasture-like pulmonary-renal syndrome].

    Science.gov (United States)

    Maresi, E; Becchina, G; Orlando, E; Ottoveggio, G

    1995-12-01

    In this report the authors describe a rare case of pulmonary/renal syndrome like-Goodpasture's disease characterized by a necrotizing acute capillaritis in the lung, kidney, liver, spleen and heart. In the heart the capillaritis was associated with a contiguous acute ischemic lesion. The clinical and pathologic findings of the case suggest that the presence of vasculitis should not exclude a diagnosis of Goodpasture's Syndrome and that the multisystemic capillaritis would demonstrate the organ-non-specificity of anti-glomerular/alveolar basement membrane antibody.

  16. VITAMIN D RECEPTOR ACTIVATION AND A NOVEL CLASSIFICATION OF CARDIO-RENAL SYNDROME

    Directory of Open Access Journals (Sweden)

    Sirous Darabian

    2012-06-01

    Full Text Available Due to increasing survival rate of cardiac and renal disease patients, Cardiorenal syndrome (CRS, a combination of these two is becoming an important problem. Some classifications have been proposed for CRS but for clinical approach, it would be more appropriate to emphasize the pathophysiologic pathways to classify CRS into: 1\\ hemodynamic, 2\\ atherosclerotic, 3\\ uremic, 4\\ neurohumoral, 5\\ anemic-hematologic, 6\\ inflammatory-oxidative, 7\\ vitamin D receptor (VDR related, and 8\\ multi-factorial CRS. Recently, it has been revealed that vitamin D and its receptor play an important role in the CRS. Decreased 1-α-hydroxylase activity, nutritional deficiency, decreased Megalin receptors, and increased 1-24-hydroxylase activity are major causes for vitamin D depletion in CKD. Decrease in GFR, renal mass and 1-α-hydroxylase expression along with phosphate retention, increased FGF-23, and loss of both 1-α-hydroxylase and 25(OHvitamin D are important factors for decreased 1-α-hydroxylase activity. Suboptimal or defective VDR activation may play a role in causing or aggravating CRS. Newer VDR activators such as vitamin D mimetics (e.g. paricalcitol and maxacalcitol are promising agents. Some studies have confirmed the survival advantages of D-mimetics as compared to non-selective VDR activators. Higher doses of D-mimetic per unit of PTH (paricalcitol to PTH ratio are associated with greater survival, and the survival advantages of African American dialysis patients could be explained by higher received doses of paricalcitol. More studies are needed to verify these data and to explore additional avenues for CRS management via modulating VDR pathway.

  17. In an Ovine Model of Polycystic Ovary Syndrome (PCOS) Prenatal Androgens Suppress Female Fetal Renal Gluconeogenesis.

    Science.gov (United States)

    Connolly, Fiona; Rae, Michael T; Späth, Katharina; Boswell, Lyndsey; McNeilly, Alan S; Duncan, W Colin

    2015-01-01

    Increased maternal androgen exposure during pregnancy programmes a polycystic ovary syndrome (PCOS)-like condition, with metabolic dysfunction, in adult female offspring. Other in utero exposures associated with the development of insulin resistance, such as intrauterine growth restriction and exposure to prenatal glucocorticoids, are associated with altered fetal gluconeogenesis. We therefore aimed to assess the effect of maternal androgenisation on the expression of PEPCK and G6PC in the ovine fetus. Pregnant Scottish Greyface sheep were treated with twice weekly testosterone propionate (TP; 100mg) or vehicle control from day 62 to day 102 of gestation. At day 90 and day 112 fetal plasma and liver and kidney tissue was collected for analysis. PEPCK and G6PC expression were analysed by quantitative RT-PCR, immunohistochemistry and western blotting. PEPCK and G6PC were localised to fetal hepatocytes but maternal androgens had no effect on female or male fetuses. PEPCK and G6PC were also localised to the renal tubules and renal PEPCK (P<0.01) and G6PC (P = 0.057) were lower in females after prenatal androgenisation with no change in male fetuses. These tissue and sex specific observations could not be explained by alterations in fetal insulin or cortisol. The sexual dimorphism may be related to the increase in circulating estrogen (P<0.01) and testosterone (P<0.001) in females but not males. The tissue specific effects may be related to the increased expression of ESR1 (P<0.01) and AR (P<0.05) in the kidney when compared to the fetal liver. After discontinuation of maternal androgenisation female fetal kidney PEPCK expression normalised. These data further highlight the fetal and sexual dimorphic effects of maternal androgenisation, an antecedent to adult disease and the plasticity of fetal development.

  18. In an Ovine Model of Polycystic Ovary Syndrome (PCOS Prenatal Androgens Suppress Female Fetal Renal Gluconeogenesis.

    Directory of Open Access Journals (Sweden)

    Fiona Connolly

    Full Text Available Increased maternal androgen exposure during pregnancy programmes a polycystic ovary syndrome (PCOS-like condition, with metabolic dysfunction, in adult female offspring. Other in utero exposures associated with the development of insulin resistance, such as intrauterine growth restriction and exposure to prenatal glucocorticoids, are associated with altered fetal gluconeogenesis. We therefore aimed to assess the effect of maternal androgenisation on the expression of PEPCK and G6PC in the ovine fetus. Pregnant Scottish Greyface sheep were treated with twice weekly testosterone propionate (TP; 100mg or vehicle control from day 62 to day 102 of gestation. At day 90 and day 112 fetal plasma and liver and kidney tissue was collected for analysis. PEPCK and G6PC expression were analysed by quantitative RT-PCR, immunohistochemistry and western blotting. PEPCK and G6PC were localised to fetal hepatocytes but maternal androgens had no effect on female or male fetuses. PEPCK and G6PC were also localised to the renal tubules and renal PEPCK (P<0.01 and G6PC (P = 0.057 were lower in females after prenatal androgenisation with no change in male fetuses. These tissue and sex specific observations could not be explained by alterations in fetal insulin or cortisol. The sexual dimorphism may be related to the increase in circulating estrogen (P<0.01 and testosterone (P<0.001 in females but not males. The tissue specific effects may be related to the increased expression of ESR1 (P<0.01 and AR (P<0.05 in the kidney when compared to the fetal liver. After discontinuation of maternal androgenisation female fetal kidney PEPCK expression normalised. These data further highlight the fetal and sexual dimorphic effects of maternal androgenisation, an antecedent to adult disease and the plasticity of fetal development.

  19. The reactivity of sera from hemorrhagic fever in patients with renal syndromes to the recombination nucleotide proteins from European hantaviruses in Hubei province%湖北地区HFRS患者血清与欧洲汉坦病毒重组核抗原的反应性研究

    Institute of Scientific and Technical Information of China (English)

    李晴; 陈文; 杨占秋

    2008-01-01

    目的 用欧洲汉坦病毒流行株制备重组核抗原,检测湖北地区HFRS患者血清中汉坦病毒特异性抗体,观察流行于不同地区汉坦病毒的相关性.方法 收集湖北地区34例HFRS患者急性/恢复期血清,以ELISA法检测血清标本对欧洲汉坦病毒重组核抗原(rNP)的反应性.结果 多不拉伐病毒(DOBV)-rNP对IgA抗体检出率最高,汉滩病毒(HTNV)-rNP对IgG抗体检出率最高,两者对IgM抗体检出率的差异无统计学意义;普马拉病毒(PUUV)-rNP对各种抗体检出率均低,但有3例患者急性期和恢复期标本对3种PUUV-rNP均有很强反应性.定量分析结果发现,IgM抗体水平急性期较高,IgA抗体水平急性期、恢复期均较高;IgA、IgG抗体水平恢复期均显著升高.结论 DOBV-rNP对湖北地区HFRS患者血清检出率高,IgA抗体水平在急性期和恢复期均较高,对疾病的监测具有重要意义;湖北地区可能存在PUU型和DOB型汉坦病毒流行.%Objective Five yeast-expressed recombination nucleotide proteins of European hantaviruses were prepared as coated antigens to detect hantavirus-specific antibodies in sera from hemorrhagic fever with renal syndromes (HFRS) in Hubei province, through ELISA assay. The relativity among hantaviruses prevailing in different areas was investigated. Methods 34 pairs of acute/convalescent serum samples were collected from HFRS patients in Hubei during 1985 - 1989 and 1996-2000. ELISA assay was performed to detect the reactivity of these sera to different hantavirus-recombinant nucleocapsid proteins(HV-rNP) which were derived from puumala virus (PUUV), dobrava virus (DOBV) while using hantaan virus (HTNV) to serve as control. Qualitative results were used to analyze the detection rate and the quantitative results of optical density values were used to investigate the antibodies' level and the changes. Results The detective efficiency of rNP against IgG antibody in samples was as follows

  20. Seroepidemiological Survey on Natural Epidemic Areas of Hemorrha gic Fever with Renal Syndrome in Linzhi Areas of Tibet%西藏林芝地区肾综合征出血热自然疫源地 血清流行病学调查

    Institute of Scientific and Technical Information of China (English)

    陈化新; 谢世宏; 李书岐; 罗成旺; 唐浏英; 余陶; 唐青; 张佳珂; 格桑卓玛; 斯塔; 茶果; 嘎路; 索郎平措; 丹巴仁增; 王洪举; 尼玛次仁; 郁晓峰; 卢效信; 阎申义; 次仁旺堆

    2001-01-01

    Objective:To identify if natural epidemic areas of He morrhagicFever with Renal Syndrome 〔i. e. Epidemic Hemorrhagic Fever,EHF〕 ex it in Linzhi areas of Tibet. Method:Human epidemic situat ion investigations were selected in reported areas of HFRS; Specific antibodies were detected of health population; The number of small animals were studied in forest region, in plain farms and residential areas; Hantan virus (HV) infection were detected of blood and lung samples in captured animals and blood samples of cattle and sheep, antigens of Hantan virus were detected in lung slic e with Immune Fluorescence (IF); Antibodies of HV were detected in blood s amples with gold standard immune blot and indirect-IF. Results: 1 case of HFRS was reported in Gongbujiangda co unty in 1976,9 cases in Linzhi county in 1980; 18 hospitalized patients, 357 hig h school students and other 117 physical detected persons were examined, only 2 students of Linzhi county, 2 students of Gongbujiangda,1 student of Chayu county and 1 maternity were identified positive of HV antibody and antibody IgG, the recessive infection rate was 1.22%; 1 positive of 115 detected Apodemus dr aco, the virus carrying rate was 0.87%; 5 Apodemus draco, 1 Alticola argentayus positive of total antibody and IgG, positive rate of antibody was 5.22%. The positive rate of total antibodies and IgG in cattle against HV wa s 0.85%(1/118) and sheep against HV was 1.68%(3/179) of all 310 detected blood samples. Conclusion: The fact that rare cases existed in Linzhi area of Tibet, HV infection occurred in health popu lation, Apodemus draco and Alticola argentayus. There existed the HFRS natural ep idemic areas in forest and plain farms of Linzhi areas.%目的:查明西藏林芝地区是否存在肾综合征出血热(HFRS)自然疫源地。方法:选择有疫情报告地区,进行人间疫情调查;健康人群特异性抗体检测;在山地针、阔叶混合林及山间平原的农田和居民区,用

  1. Manifestações renais na síndrome de Joubert Renal symptoms in the Joubert syndrome

    Directory of Open Access Journals (Sweden)

    Ana Paula Weiss

    2009-06-01

    Full Text Available OBJETIVO:Descrever o caso clínico de paciente com Síndrome de Joubert associada a alterações renais. DESCRIÇÃO DO CASO: Paciente de dois meses de idade admitida com quadro hipotonia e hiperpneia. Ao exame físico, observaram-se, além da respiração irregular, movimentos oculares anormais e hipertensão arterial; não se evidenciaram alterações na ausculta cardíaca e pulmonar. Durante investigação clínico-laboratorial inicial, as causas cardíacas e pulmonares foram descartadas. Aventaram-se hipóteses diagnósticas de patologias neurológicas com doença renal. Os exames laboratoriais mostraram presença de alcalose respiratória, acidose metabólica e hipercalemia, com função renal normal. A ressonância magnética evidenciou alterações neurológicas compatíveis com "sinal do dente molar", quadro frequentemente associada à Sindrome de Joubert. Levando-se em consideração a associação dessa síndrome com alterações renais, a investigação nefrológica demonstrou imagens císticas em parênquima renal. COMENTÁRIOS: Patologias cardíacas e pulmonares estão frequentemente associadas a manifestações clínicas como taquipneia e distúrbios metabólicos. Entretanto, pode ser necessária uma investigação neurológica porque diversas doenças que acometem o sistema nervoso central apresentam tais alterações. A associação entre alterações renais e malformações de sistema nervoso central é frequente em diversos processos sindrômicos, justificando-se a sua investigação. A Síndrome de Joubert e as desordens a ela relacionadas caracterizam-se por aplasia do vermix cerebelar, ataxia, movimentos oculares anormais, respiração irregular e retardo do desenvolvimento neuropsicomotor. As alterações renais mais comuns são os cistos renais e a nefronoftise, que pode progredir para doença renal terminal.OBJECTIVE:To describe the case of a patient with Joubert syndrome associated with renal impairments. CASE

  2. Acute Renal Replacement Therapy in Children with Diarrhea-Associated Hemolytic Uremic Syndrome: A Single Center 16 Years of Experience

    OpenAIRE

    Silviu Grisaru; Morgunov, Melissa A.; Samuel, Susan M.; Julian P Midgley; Wade, Andrew W; Tee, James B.; Hamiwka, Lorraine A.

    2011-01-01

    Acute kidney injury (AKI) is becoming more prevalent among hospitalized children, its etiologies are shifting, and new treatment modalities are evolving; however, diarrhea-associated hemolytic uremic syndrome (D+HUS) remains the most common primary disease causing AKI in young children. Little has been published about acute renal replacement therapy (ARRT) and its challenges in this population. We describe our single center's experience managing 134 pediatric patients with D+HUS out of whom 5...

  3. Urine alkalinization may be enough for the treatment of bilateral renal pelvis stones associated with Lesch-Nyhan syndrome.

    Science.gov (United States)

    Oh, Mi Mi; Ham, Byeong Kuk; Kang, Seok Ho; Bae, Jae Hyun; Kim, Je Jong; Yoo, Ki Hwan; Yoon, Duck Ki; Moon, Du Geon

    2011-10-01

    Lesch-Nyhan syndrome is a rare sex-linked disorder of purine metabolism that is caused by a mutation in the hypoxanthine-guanine phosphoribosyltransferase (HPRT) gene which causes marked hyperuricemia and hyperuricosuria, with signs of gouty arthritis and uric acid stone disease in early childhood. We report a case of renal pelvis calculi which was dissolved within 10 days of urine alkalinization and hydration.

  4. Rapidly progressive antineutrophil cytoplasm antibodies associated with pulmonary-renal syndrome in a 10-year-old girl

    Directory of Open Access Journals (Sweden)

    Fermin Blanco Filho

    2001-01-01

    Full Text Available CONTEXT: The term pulmonary-renal syndrome has been used frequently to describe the clinical manifestations of a great number of diseases in which pulmonary hemorrhage and glomerulonephritis coexist. The classic example of this type of vasculitis is Goodpasture´s syndrome, a term used to describe the association of pulmonary hemorrhage, glomerulonephritis and the presence of circulating antiglomerular basement membrane antibodies (anti-GBM. Among the several types of systemic vasculitides that can present clinical manifestations of the pulmonary-renal syndrome, we focus the discussion on two types more frequently associated with antineutrophil cytoplasm antibodies (ANCA, microscopic polyangiitis and Wegener´s granulomatosis, concerning a 10 year old girl with clinical signs and symptoms of pulmonary-renal syndrome, with positive ANCA and rapidly progressive evolution. CASE REPORT: We describe the case of a 10-year-old girl referred to our hospital for evaluation of profound anemia detected in a primary health center. Five days before entry she had experienced malaise, pallor and began to cough up blood-tinged sputum that was at first attributed to dental bleeding. She was admitted to the infirmary with hemoglobin = 4 mg/dL, hematocrit = 14%, platelets = 260,000, white blood cells = 8300, 74% segmented, 4% eosinophils, 19% lymphocytes and 3% monocytes. Radiographs of the chest revealed bilateral diffuse interstitial alveolar infiltrates. There was progressive worsening of cough and respiratory distress during the admission day, when she began to cough up large quantities of blood and hematuria was noted. There was rapid and progressive loss of renal function and massive lung hemorrhage. The antineutrophil cytoplasm antibody (ANCA test with antigen specificity for myeloperoxidase (anti-MPO was positive and the circulating anti-GBM showed an indeterminate result.

  5. The roles of the liver and pancreas in renal nutcracker syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Yun, Seong Jong, E-mail: zoomknight@naver.com [Department of Radiology, Kyung Hee University Hospital at Gangdong, Kyung Hee University School of Medicine, 149 Sangil-dong, Kangdong-gu, Seoul 134-727 (Korea, Republic of); Department of Radiology, Graduate School of Medicine, Kyung Hee University, Hoegi-dong, Dongdaemun-gu, Seoul 130-701 (Korea, Republic of); Nam, Deok Ho, E-mail: namjindan@daum.net [Department of Radiology, Kyung Hee University Hospital at Gangdong, Kyung Hee University School of Medicine, 149 Sangil-dong, Kangdong-gu, Seoul 134-727 (Korea, Republic of); Ryu, Jung Kyu, E-mail: oddie2@naver.com [Department of Radiology, Kyung Hee University Hospital at Gangdong, Kyung Hee University School of Medicine, 149 Sangil-dong, Kangdong-gu, Seoul 134-727 (Korea, Republic of); Kim, Ji Su, E-mail: js830808@hanmail.net [Department of Radiology, Kyung Hee University Hospital at Gangdong, Kyung Hee University School of Medicine, 149 Sangil-dong, Kangdong-gu, Seoul 134-727 (Korea, Republic of)

    2014-10-15

    Graphical abstract: - Highlights: • The presence of the liver and pancreas may influence NCS by compressing SMA against the aorta. • The presence of the liver and pancreas at the level of the LRV is not yet recognized as an independent factor for NCS but should be. • The presence of the liver and the pancreas may allow clinicians to identify NCS patients and may influence the choice of treatment options. - Abstract: Introduction: To assess the frequency and significance of presence of the liver and pancreas at the left renal vein (LRV) level in patients with suspected renal nutcracker syndrome (NCS). Materials and methods: We included 101 patients with hematuria who underwent urography three-dimensional CT between April 2009 and November 2013. These patients were divided into NCS (n = 25) and non-NCS (n = 76) patients according to the following CT criteria: (1) the presence of beak sign and (2) hilar-aortomesenteric left renal vein diameter ratio >4. Patients were grouped according to the presence of the liver and pancreas at the LRV: group LP (both liver and pancreas), group L (only liver), group P (only pancreas), and group O (neither liver nor pancreas). The difference in the frequencies of groups was analyzed between NCS and non-NCS patients. Multivariate analysis was used to determine the independent factors between NCS and non-NCS patients. Results: The frequencies of group LP, group L, group P, and group O in NCS vs. non-NCS were 88% vs. 5.3% (p < 0.001), 4.0% vs. 2.6% (p = 0.75), 4.0% vs. 11.8% (p = 0.45), 4.0% vs. 80.3% (p < 0.001), respectively. Multivariate analysis demonstrated that group was a predictor for differential diagnosis between NCS and non-NCS (p = 0.022), and group LP was an independent factor for the presence of NCS (odds ratio, 43.8; 95% confidence interval, 3.8–500.3; p < 0.002; reference, group O). Conclusion: The presence of the liver and pancreas at the level of the LRV was frequently found in NCS and was the independent factor

  6. Distal renal tubular acidosis as a cause of osteomalacia in a patient with primary Sjögren's syndrome

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    Jovelić Aleksandra

    2005-01-01

    Full Text Available Background. One half of the patients with primary Sjögren’s syndrome has extraglandular manifestations, including renal involvement. The most frequent renal lesion is tubulo-interstitial nephritis, which manifests clinically as distal tubular acidosis and may result in the development of osteomalacia. Case report. In a 29 - year-old female patient, with bilateral nephrolithiasis, the diagnosis of primary Sjögren’s syndrome, tubulo-interstitial nephritis, distal renal tubular acidosis, and hypokalemia were established. She was treated for hypokalemia. Two years later she developed bone pains and muscle weakness, she wasn’t able to walk, her proximal muscles and pelvic bones were painful, with radiological signs of pelvic bones osteopenia and pubic bones fractures. The diagnosis of osteomalacia was established and the treatment started with Schol’s solution, vitamin D and calcium. In the following two months, acidosis was corrected, and the patient started walking. Conclusion. In our patient with primary Sjögren’s syndrome and interstitial nephritis, osteomalacia was a result of the long time decompensate acidosis, so the correction of acidosis, and the supplementation of vitamin D and calcium were the integral part of the therapy.

  7. Renal angiomyolipoma bleeding in a patient with TSC2/PKD1 contiguous gene syndrome after 17 years of renal replacement therapy.

    Science.gov (United States)

    Furlano, Mónica; Barreiro, Yaima; Martí, Teresa; Facundo, Carme; Ruiz-García, César; DaSilva, Iara; Ayasreh, Nadia; Cabrera-López, Cristina; Ballarín, José; Ars, Elisabet; Torra, Roser

    We report the case of a 32-year-old male diagnosed with TSC2/PKD1 contiguous gene syndrome, presenting with tuberous sclerosis (TS) and autosomal dominant polycystic kidney disease simultaneously. He progressed to end-stage renal disease and received a kidney transplant at the age of 12. The native kidneys presented angiomyolipomas (AML), which are common benign tumours in patients with TS. Seventeen years after transplantation, he presented with abdominal pain, anaemia and a retroperitoneal haematoma, the latter caused by renal AML bleeding. Selective embolisation was performed. Our patient could have benefited from the administration of mTOR inhibitors at transplant. This therapy is immunosuppressive and reduces the size of benign tumours in TS as well as the risk of rupture and bleeding. This patient did not receive mTOR inhibitors at the time of the transplant because the relationship between mTOR inhibitors and TS was unknown at that time. This case confirms the persistent risk of renal AML bleeding for both transplanted patients and patients on dialysis. As a result, we would recommend routine check-ups of native kidneys and nephrectomy assessment.

  8. Renal angiomyolipoma bleeding in a patient with TSC2/PKD1 contiguous gene syndrome after 17 years of renal replacement therapy

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    Mónica Furlano

    2017-01-01

    Full Text Available We report the case of a 32-year-old male diagnosed with TSC2/PKD1 contiguous gene syndrome, presenting with tuberous sclerosis complex (TSC and autosomal dominant polycystic kidney disease simultaneously. He progressed to end-stage renal disease and received a kidney transplant at the age of 12. The native kidneys presented angiomyolipomas (AML, which are common benign tumours in patients with TSC. Seventeen years after transplantation, he presented with abdominal pain, anaemia and a retroperitoneal haematoma, the latter caused by renal AML bleeding. Selective embolisation was performed. Our patient could have benefited from the administration of mTOR inhibitors at transplant. This therapy is immunosuppressive and reduces the size of benign tumours in TSC as well as the risk of rupture and bleeding. This patient did not receive mTOR inhibitors at the time of the transplant because the relationship between mTOR inhibitors and TSC was unknown at that time. This case confirms the persistent risk of renal AML bleeding for both transplanted patients and patients on dialysis. As a result, we would recommend routine check-ups of native kidneys and nephrectomy assessment.

  9. Eculizumab: safety and efficacy after 17 months of treatment in a renal transplant patient with recurrent atypical hemolytic-uremic syndrome: case report.

    Science.gov (United States)

    Châtelet, V; Lobbedez, T; Frémeaux-Bacchi, V; Ficheux, M; Ryckelynck, J Ph; Hurault de Ligny, B

    2010-12-01

    In a recent study, eculizumab, a humanized monoclonal antibody which targets complement factor C5, appeared to resolve hemolysis and thrombocytopenia leading to recovery of renal function in a transplant patient during an episode of an atypical hemolytic uremic syndrome. We report the efficacy of eculizumab in a patient who presented with a recurrence of atypical hemolytic syndrome at 3 years after renal transplantation. After 17 months of eculizumab treatment, and without concomitant plasma therapy, renal function was maintained, the need for blood transfusions reduced, and acute thrombotic microangiopathy and hemolysis controlled. These data suggested that eculizumab should be considered to be a permanent treatment for this patient.

  10. [Effect of Astragali Radix in improving early renal damage in metabolic syndrome rats through ACE2/Mas pathway].

    Science.gov (United States)

    Wang, Qiong-ying; Liang, Wei; Jiang, Cheng; Li, Ning-yin; Xu, Han; Yang, Mi-na; Lin, Xin; Yu, Heng; Chang, Peng; Yu, Jing

    2015-11-01

    To study the expression of angiotensin converting enzyme 2 (ACE2) and angiotensin (Ang) 1-7 specific receptor Mas protain in renal blood vessels of metabolic syndrome ( MS) rats and its anti-oxidative effect. A total of 80 male SD rats were divided into four groups: the normal control group (NC, the same volume of normal saline), the MS group (high fat diet), the MS + Astragali Radix group (MS + HQ, 6 g x kg(-1) x d(-1) in gavage) and the MS + Valsartan group (MS + XST, 30 mg x kg(-1) x d(-1) in gavage). After four weeks of intervention, their general indexes, biochemical indexes and blood pressure were measured; plasma and renal tissue Ang II, malondialdehyde (MDA) and superoxide demutase (SOD) levels were measured with radioimmunoassay. The protein expressions of Mas receptor, AT1R, ACE and ACE2 were detected by western blot analysis. According to the result, compared with the NC group, the MS group and the MS + HQ group showed significant increases in systolic and diastolic pressures, body weight, fasting glucose, fasting insulin, triglycerides, free fatty acid and Ang II level of MS rats (P Mas receptor expressions (all P Mas receptor expression in renal tissues, whereas the MS + XST group showed notable decrease in AT1R (all P Mas receptor expressions in renal tissues, decrease ACE expression and change local Ang II, MDA, NO and SOD in kidneys, so as to protect early damages in renal tissues.

  11. Birt-Hogg-Dubé syndrome: novel FLCN frameshift deletion in daughter and father with renal cell carcinomas.

    Science.gov (United States)

    Näf, Ernst; Laubscher, Dominik; Hopfer, Helmut; Streit, Markus; Matyas, Gabor

    2016-01-01

    Germline mutation of the FLCN gene causes Birt-Hogg-Dubé syndrome (BHD), a rare autosomal dominant condition characterized by skin fibrofolliculomas, lung cysts, spontaneous pneumothorax and renal tumours. We identified a hitherto unreported pathogenic FLCN frameshift deletion c.563delT (p.Phe188Serfs*35) in a family of a 46-year-old woman presented with macrohematuria due to bilateral chromophobe renal carcinomas. A heritable renal cancer was suspected due to the bilaterality of the tumour and as the father of this woman had suffered from renal cancer. Initially, however, BHD was overlooked by the medical team despite the highly suggestive clinical presentation. We assume that BHD is underdiagnosed, at least partially, due to low awareness of this variable condition and to insufficient use of appropriate genetic testing. Our study indicates that BHD and FLCN testing should be routinely considered in patients with positive family or personal history of renal tumours. In addition, we demonstrate how patients and their families can play a driving role in initiating genetic diagnosis, presymptomatic testing of at-risk relatives, targeted disease management, and genetic counselling of rare diseases such as BHD.

  12. Angiopoietin-2 Is an Early Indicator of Acute Pancreatic-Renal Syndrome in Patients with Acute Pancreatitis

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    Mateusz Sporek

    2016-01-01

    Full Text Available Within the first week of the disease, acute kidney injury (AKI is among the most common causes of mortality in acute pancreatitis (AP. Recently, serum angiopoietin-2 (Ang-2 has been associated with hyperdynamic state of the systemic circulation. The aim of this study was to examine the associations between Ang-2 and the clinical AP severity during the first 72 hours of the disease, and organ disfunction, including AKI. Methods. Study included patients admitted to the surgery ward, diagnosed with AP. AKI was diagnosed according to KDIGO guidelines and renal failure according to modified Marshall scoring system. Ang-2 was determined in serum with ELISA. Results. AP was classified as mild (MAP in 71% of patients, moderately severe (MSAP in 22%, and severe (SAP in 8%. During the first 72 hours of AP, 11 patients developed AKI and 6 developed renal failure. Ang-2 at 24, 48, and 72 hours following the onset of AP symptoms significantly predicted SAP and MSAP, as well as AKI and renal failure. Also, Ang-2 significantly correlated with acute phase proteins as well as with the indicators of renal disfunction. Conclusions. Serum Ang-2 may be a relevant predictor of AP severity, in particular of the development of AP-renal syndrome.

  13. Kidney disease in heart failure: the importance of novel biomarkers for type 1 cardio-renal syndrome detection.

    Science.gov (United States)

    Palazzuoli, Alberto; McCullough, Peter A; Ronco, Claudio; Nuti, Ranuccio

    2015-08-01

    Chronic kidney disease (CKD) in heart failure (HF) has been recognized as an independent risk factor for adverse outcome, although the most important clinical trials tend to exclude patients with moderate and severe renal insufficiency. Despite this common association, the precise pathophysiological connection and liaison between heart and kidney is partially understood. Moreover, is it not enough considering how much cardio-renal syndrome type 1 is attributable to previous CKD, and how much to new-onset acute kidney injury (AKI). Neither development of AKI, its progression and time nor duration is related to an adverse outcome. An AKI definition is not universally recognized, and many confounding terms have been used in literature: "worsening renal function", "renal impairment", "renal dysfunction", etc., are all names that contribute to misunderstanding, and do not facilitate an universal classification. Therefore, AKI development should be the consequence of the basal clinical characteristics of patients, different primitive kidney disease and hemodynamic status. AKI could also be the mirror of several underlying associated diseases poorly controlled. Finally, it is not clear which is the optimal laboratory tool for identifying patients with an increased risk of AKI. In the current report, we review the different kidney diseases' impact in HF, and we analyze the modalities for AKI recognition during HF focusing our attention about some new biomarkers with potential application in the current setting.

  14. Biopsy-proven renal involvement and prognosis in 13 hispanic patients with primary Sjögren syndrome.

    Science.gov (United States)

    Carrillo-Pérez, Diego Luis; Tejeda-Maldonado, Javier; Garza-García, Carlos; Soto-Abraham, Virgilia; Hernández-Molina, Gabriela; Molina-Paredes, Giovanni Arnoldo; Uribe-Uribe, Norma O; Morales-Buenrostro, Luis E

    2017-08-29

    The aim of this study was to describe a case series of 13 Hispanic patients with primary Sjögren syndrome (pSS) and biopsy-proven renal involvement. We describe the clinical, serological and histological characteristics as well as the prognosis in a group of patients with pSS and biopsy-proven renal involvement, treated in 2 referral nephrology units in Mexico City. Thirteen patients with pSS underwent kidney biopsy (KB) over a period of 27 years. The median duration from pSS diagnosis to KB was 13.9 months. Seven patients (54%) had glomerulonephritis and 6 patients (46%) had tubulointerstitial nephritis. All patients were treated with corticosteroids and/or immunosuppressants. Eight patients (62%) remained stable or their renal function improved after a median follow-up of 12 months. This case series reflects the broad spectrum of renal involvement in pSS. We observed that in our Hispanic population, glomerular involvement was the most frequent abnormality, mainly membranous glomerulopathy, followed by tubulointerstitial disease. Tubular atrophy and interstitial fibrosis were also common biopsy findings. Treatment with corticosteroids or other immunosuppressive agents appear to slow renal disease progression. Copyright © 2017 Elsevier España, S.L.U. All rights reserved.

  15. Angiopoietin-2 Is an Early Indicator of Acute Pancreatic-Renal Syndrome in Patients with Acute Pancreatitis.

    Science.gov (United States)

    Sporek, Mateusz; Dumnicka, Paulina; Gala-Bladzinska, Agnieszka; Ceranowicz, Piotr; Warzecha, Zygmunt; Dembinski, Artur; Stepien, Ewa; Walocha, Jerzy; Drozdz, Ryszard; Kuzniewski, Marek; Kusnierz-Cabala, Beata

    2016-01-01

    Within the first week of the disease, acute kidney injury (AKI) is among the most common causes of mortality in acute pancreatitis (AP). Recently, serum angiopoietin-2 (Ang-2) has been associated with hyperdynamic state of the systemic circulation. The aim of this study was to examine the associations between Ang-2 and the clinical AP severity during the first 72 hours of the disease, and organ disfunction, including AKI. Methods. Study included patients admitted to the surgery ward, diagnosed with AP. AKI was diagnosed according to KDIGO guidelines and renal failure according to modified Marshall scoring system. Ang-2 was determined in serum with ELISA. Results. AP was classified as mild (MAP) in 71% of patients, moderately severe (MSAP) in 22%, and severe (SAP) in 8%. During the first 72 hours of AP, 11 patients developed AKI and 6 developed renal failure. Ang-2 at 24, 48, and 72 hours following the onset of AP symptoms significantly predicted SAP and MSAP, as well as AKI and renal failure. Also, Ang-2 significantly correlated with acute phase proteins as well as with the indicators of renal disfunction. Conclusions. Serum Ang-2 may be a relevant predictor of AP severity, in particular of the development of AP-renal syndrome.

  16. Effects of tacrolimus and cyclosporine treatment on metabolic syndrome and cardiovascular risk factors after renal transplantation: a meta-analysis.

    Science.gov (United States)

    Xue, Wenrui; Zhang, Qiang; Xu, Yue; Wang, Wei; Zhang, Xiaodong; Hu, Xiaopeng

    2014-01-01

    The therapeutic success of renal transplantation has been largely attributable to the development of effective and balanced immunosuppressive treatment regimens. This study provides a meta-analysis of a series of randomized controlled trials that compared the effects of tacrolimus and cyclosporine on metabolic syndrome (MetS) and cardiovascular risk factors after renal transplantation. We searched various electronic databases and bibliographies, including MEDLINE, the Cochrane Central Register of Controlled Trials, and EMBASE, for relevant studies published prior to October 2012. Our meta-analysis included five randomized controlled trials that examined a total of 923 patients. The tacrolimus group and the cyclosporine group exhibited no significant differences in MetS incidence after renal transplantation; risk ratio (RR): 1.06, 95% confidence interval (CI): 0.73-1.55, P = 0.76. Cyclosporine treatment was associated with a higher incidence of hyperlipidemia (RR: 0.50, 95% CI: 0.39-0.64, P cyclosporine treatment was associated with a higher incidence of hypertension (RR: 0.91, 95% CI: 0.83-1.00, P = 0.06) after renal transplantation compared to tacrolimus treatment, and tacrolimus treatment was associated with a higher incidence of diabetes after renal transplantation (RR: 1.79, 95% CI: 0.98-3.27, P = 0.06) compared to cyclosporine treatment. Compared to tacrolimus treatment, cyclosporine treatment was associated with a higher incidence of hyperlipidemia. Future large-scale studies are expected to be conducted to further confirm our findings.

  17. Síndrome pulmón-riñón Pulmonary-renal syndrome

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    Jorge A. Risso

    2009-12-01

    Full Text Available El síndrome pulmón-riñón se define como una combinación de hemorragia alveolar difusa y glomerulonefritis. La coexistencia de estas dos afecciones clínicas se produce por enfermedades con distintos mecanismos patogénicos. Las vasculitis sistémicas primarias y el síndrome de Goodpasture son las etiologías más frecuentes. El lupus eritematoso sistémico, otras colagenopatías, las vasculitis con anticuerpos anticitoplasma de los neutrófilos negativos y las secundarias a drogas son causas mucho menos comunes. El diagnóstico temprano basado en criterios clínicos, radiológicos, de laboratorio e histológicos, permite iniciar el tratamiento disminuyendo su elevada morbi-mortalidad. La terapéutica se basa en altas dosis de corticoides, inmunosupresores, inhibidores del factor de necrosis tumoral y plasmaféresis.The pulmonary-renal syndrome is defined as a combination of diffuse alveolar hemorrhage and glomerulonephritis. The coexistence of these two clinical conditions is due to diseases with different pathogenic mechanisms. Primary systemic vasculitis and Goodpasture syndrome are the most frequent etiologies. Systemic lupus erythematosus, connective tissue diseases, negative anti neutrophil cytoplasmic antibody vasculitis and those secondary to drugs are far less common causes. An early diagnosis based on clinical, radiologic, laboratory and histologic criteria enables early treatment, thus diminishing its high morbility-mortality rate. Therapy is based on high doses of corticosteroids, immunosuppressants, tumor necrosis factor inhibitors and plasmapheresis.

  18. Budd-Chiari syndrome in urology: Impact on nephrectomy for advanced renal cell carcinoma

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    Samir P Shirodkar

    2011-01-01

    Full Text Available Objectives : Budd-Chiari syndrome (BCS is a poorly understood entity in urology. It results from obstruction of the hepatic veins and the subsequent complications. It has been infrequently reported to be secondary to hepatic venous obstruction from invasion by an inferior vena cava (IVC tumor thrombus in renal cell carcinoma (RCC. We report the largest known series of patients with RCC and BCS. Patients and Methods : Ten patients presented to a tertiary hospital with locally advanced RCC with IVC tumor thrombus. All were evaluated and had clinical or radiographic evidence of BCS. All underwent nephrectomy, IVC thrombectomy or ligation, and tumor removal from the hepatic veins. The perioperative and pathological factors were measured. These included estimated blood loss (EBL and transfusions. Inpatient factors including duration of intubation, length of intensive care unit (ICU stay, and overall length of stay (LOS were recorded. The tumor-free status was evaluated. Results : The average age was 59 years. No intraoperative deaths occurred. Two intraoperative complications were noted. The mean EBL was 4244 cc; mean surgery length was 8 hours 12 minutes; and the mean ICU stay was nine days. The overall LOS averaged 13.25 days. One patient died postoperatively of sepsis and multisystem organ failure. One patient required reoperation for an abdominal wall hematoma caused by subcutaneous enoxaparin administration. Average follow-up was 28 months. Five patients are alive with no evidence of disease. Conclusions : Budd-Chiari syndrome is a rare entity in urology, with a potential for significant morbidity and mortality. Surgical excision of the primary tumor along with thrombectomy results in alleviation of BCS and improvement in the patient.

  19. A Case with Mega Cisterna Magna Renal and Ear Anomalies: Is This a New Syndrome?

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    Çapan Konca

    2013-01-01

    Full Text Available Background. Extrarenal pathologies may be associated with renal position and fusion anomalies. According to the literature, our patient is the first horseshoe kidney case that had mega cisterna magna, arachnodactyly, and mild mental retardation. Case Report. A 9-year-old boy admitted because of the myoclonic jerks. He had a dysmorphic face, low-set and cup-shaped ears, arachnodactyly, and mild mental retardation. The patient’s laboratory findings were normal except for a mild leucocytosis and hypochromic microcytic anemia. His cerebrospinal fluid was cytologically and biochemically normal. Cranial MRI revealed 1.5 cm diametered mega cisterna magna in the retrocerebellar region. Although there were no significant epileptical discharges in the electroencephalography, there were slow wave discharges arising from the anterior regions of both hemispheres. Because he had stomachache, abdominal ultrasonography was performed, and horseshoe kidney was determined. Abdominal CT did not reveal any abnormalities except the horseshoe kidney. There were not any cardiac pathologies in echocardiography. He had normal 46XY karyotype and there were no repeated chromosomal derangements, but we could not evaluate for molecular and submicroscopic somatic changes. He was treated with valproic acid and myoclonic jerks did not repeat. Conclusion. We suggest that the presence of these novel findings may represent a newly recognized, separate syndrome.

  20. Nutcracker Syndrome: laparoscopic external stenting of the renal vein (“the shield technique”)

    Science.gov (United States)

    Korkes, Fernando; Silveira, Marcel; Neves-Neto, Oseas Castro; Brandão, Luiz Franco; Tobias-Machado, Marcos; Wolosker, Nelson; Nasser, Felipe; Maurano, Alexandre

    2017-01-01

    ABSTRACT Nutcracker syndrome refers to the complex of clinical symptoms caused by the compression of the left renal vein (LRV) between the abdominal aorta and the superior mesenteric artery, leading to stenosis of the aortomesenteric portion of the LRV and dilatation of the distal portion. Hematuria, proteinuria, flank pain, varicocele and pelvic congestion may occur, occurring more frequently in young adults. Conservative management, might be the option whenever it is possible. When surgical treatment is required, classically open surgery have been performed, with major surgeries as LRV transposition or bypass techniques. The main caveats regards the fact that these are large and risky surgeries. Endovascular surgery with venous stent placement has gained some space as it is minimally invasive alternative. However, venous stents are associated with a high number of trombotic complications and in many cases requirement of life-long anticoagulants. External stenting of the LRV with this “shield technique” is a minimally invasive alternative, with good medium term results. We herein demonstrate our second experience with the technique of this surgery in a patient with 12 months of follow up and excellent results. PMID:27649112

  1. Nutcracker Syndrome: laparoscopic external stenting of the renal vein (″the shield technique″).

    Science.gov (United States)

    Korkes, Fernando; Silveira, Marcel; Neves-Neto, Oseas Castro; Brandao, Luiz Franco; Tobias-Machado, Marcos; Wolosker, Nelson; Nasser, Felipe; Maurano, Alexandre

    2017-01-01

    Nutcracker syndrome refers to the complex of clinical symptoms caused by the compression of the left renal vein (LRV) between the abdominal aorta and the superior mesenteric artery, leading to stenosis of the aortomesenteric portion of the LRV and dilatation of the distal portion. Hematuria, proteinuria, flank pain, varicocele and pelvic congestion may occur, occurring more frequently in young adults. Conservative management, might be the option whenever it is possible. When surgical treatment is required, classically open surgery have been performed, with major surgeries as LRV transposition or bypass techniques. The main caveats regards the fact that these are large and risky surgeries. Endovascular surgery with venous stent placement has gained some space as it is minimally invasive alternative. However, venous stents are associated with a high number of trombotic complications and in many cases requirement of life-long anticoagulants. External stenting of the LRV with this "shield technique" is a minimally invasive alternative, with good medium term results. We herein demonstrate our second experience with the technique of this surgery in a patient with 12 months of follow up and excellent results. Copyright® by the International Brazilian Journal of Urology.

  2. Immunohistochemical characterization of renal tumors in patients with Birt-Hogg-Dubé syndrome.

    Science.gov (United States)

    Iribe, Yasuhiro; Kuroda, Naoto; Nagashima, Yoji; Yao, Masahiro; Tanaka, Reiko; Gotoda, Hiroko; Kawakami, Fumi; Imamura, Yoshiaki; Nakamura, Yasushi; Ando, Midori; Araki, Akinobu; Matsushima, Jun; Nakatani, Yukio; Furuya, Mitsuko

    2015-03-01

    Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant disorder associated with a germline mutation of folliculin (FLCN). The affected families are at a high risk for developing multiple renal cell carcinomas (RCC). Little is known about the immunostaining patterns of mutant FLCN-associated RCCs. We investigated 32 RCCs obtained from 17 BHD patients. The studied tumors included chromophobe RCCs (n = 15), hybrid oncocytic/chromophobe tumors (HOCT) (n = 14) and clear cell RCCs (n = 3). Almost all chromophobe RCCs and HOCTs revealed positive staining for S100A1, Ksp-cadherin and CD82. They stained either focally or diffusely for CK7, and were negative for CA-IX. All clear cell RCCs were positively stained for CA-IX and negative for CK7. These data confirmed that mutant FLCN-associated oncocytic and clear cell RCCs exhibited generally similar immunostaining patterns compared to their sporadic counterparts. Frequent positive staining for S100A1, Ksp-cadherin and CD82 in chromophobe RCCs and HOCTs indicated that these two types were relatively similar rather than distinctively different in their patterns of immunoreactivity. Characteristic peri-nuclear halos and polygonal cells with clear cytoplasm, which often misleads pathologists into the diagnosis of clear cell RCC, should be carefully examined using an immunohistochemical panel including CA-IX, Ksp-cadherin, CD82 and CK7.

  3. Acute renal failure due to abdominal compartment syndrome: report on four cases and literature review

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    Cleva Roberto de

    2001-01-01

    Full Text Available We report on 4 cases of abdominal compartment syndrome complicated by acute renal failure that were promptly reversed by different abdominal decompression methods. Case 1: A 57-year-old obese woman in the post-operative period after giant incisional hernia correction with an intra-abdominal pressure of 24 mm Hg. She was sedated and curarized, and the intra-abdominal pressure fell to 15 mm Hg. Case 2: A 73-year-old woman with acute inflammatory abdomen was undergoing exploratory laparotomy when a hypertensive pneumoperitoneum was noticed. During the surgery, enhancement of urinary output was observed. Case 3: An 18-year-old man who underwent hepatectomy and developed coagulopathy and hepatic bleeding that required abdominal packing, developed oliguria with a transvesical intra-abdominal pressure of 22 mm Hg. During reoperation, the compresses were removed with a prompt improvement in urinary flow. Case 4: A 46-year-old man with hepatic cirrhosis was admitted after incisional hernia repair with intra-abdominal pressure of 16 mm Hg. After paracentesis, the intra-abdominal pressure fell to 11 mm Hg.

  4. A case of passenger lymphocyte syndrome following minor ABO incompatible renal transplantation

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    Anju Dubey

    2014-01-01

    Full Text Available Immune hemolysis is one of the adverse effects that can occur following solid organ transplantation. Understanding the clinical settings and the various causes is necessary for prompt diagnosis and appropriate management. One such condition is passenger lymphocyte syndrome (PLS. This case report describes the case of a 27-year-old male renal allograft recipient of the B-positive blood group who received a kidney from an O-positive donor. Postoperatively, the patient showed declining hemoglobin (Hb level and was transfused with B-group packed RBCs (PRBCs, following which there was steep fall in Hb level. A request for PRBCs was sent to the blood bank and this time cross-match with B-group PRBCs showed incompatibility. The patient′s RBCs were found to be strongly DAT (direct anti-globulin test positive and the eluate showed the presence of anti-B with a titer of 32. Thus, diagnosis of probable PLS was made. The patient was managed with methylprednisolone, plasmapheresis and O-group PRBCs. Gradually his condition improved and was discharged in stable condition.

  5. A case of passenger lymphocyte syndrome following minor ABO incompatible renal transplantation.

    Science.gov (United States)

    Dubey, Anju; Pandey, Hemchandra; Sonker, Atul; Chaudhary, Rajendra K

    2014-01-01

    Immune hemolysis is one of the adverse effects that can occur following solid organ transplantation. Understanding the clinical settings and the various causes is necessary for prompt diagnosis and appropriate management. One such condition is passenger lymphocyte syndrome (PLS). This case report describes the case of a 27-year-old male renal allograft recipient of the B-positive blood group who received a kidney from an O-positive donor. Postoperatively, the patient showed declining hemoglobin (Hb) level and was transfused with B-group packed RBCs (PRBCs), following which there was steep fall in Hb level. A request for PRBCs was sent to the blood bank and this time cross-match with B-group PRBCs showed incompatibility. The patient's RBCs were found to be strongly DAT (direct anti-globulin test) positive and the eluate showed the presence of anti-B with a titer of 32. Thus, diagnosis of probable PLS was made. The patient was managed with methylprednisolone, plasmapheresis and O-group PRBCs. Gradually his condition improved and was discharged in stable condition.

  6. Long term metabolic syndrome induced by a high fat high fructose diet leads to minimal renal injury in C57BL/6 mice

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    Dissard, R.; Klein, J.; Caubet, C.; Breuil, B.; Siwy, J.; Hoffman, J.; Sicard, L.; Ducasse, L.; Rascalou, S.; Payre, B.; Buleon, M.; Mullen, W.; Mischak, H; Tack, I.; Bascands, J.

    2013-01-01

    Metabolic syndrome can induce chronic kidney disease in humans. Genetically engineered mice on a C57BL/6 background are highly used for mechanistic studies. Although it has been shown that metabolic syndrome induces cardiovascular lesions in C57BL/6 mice, in depth renal phenotyping has never been performed. Therefore in this study we characterized renal function and injury in C57BL/6 mice with long-term metabolic syndrome induced by a high fat and fructose diet (HFFD). C57BL/6 mice received a...

  7. Long Term Metabolic Syndrome Induced by a High Fat High Fructose Diet Leads to Minimal Renal Injury in C57BL/6 Mice

    OpenAIRE

    Dissard, Romain; Klein, Julie; Caubet, Cécile; Breuil, Benjamin; Siwy, Justyna; Hoffman, Janosch; Sicard, Laurent; Ducassé, Laure; Rascalou, Simon; Payre, Bruno; Buléon, Marie; Mullen, William; Mischak, Harald; Tack, Ivan; Bascands, Jean-Loup

    2013-01-01

    Metabolic syndrome can induce chronic kidney disease in humans. Genetically engineered mice on a C57BL/6 background are highly used for mechanistic studies. Although it has been shown that metabolic syndrome induces cardiovascular lesions in C57BL/6 mice, in depth renal phenotyping has never been performed. Therefore in this study we characterized renal function and injury in C57BL/6 mice with long-term metabolic syndrome induced by a high fat and fructose diet (HFFD). C57BL/6 mice received a...

  8. Renal Cell Carcinoma in A Patient with Kartagener Syndrome: First Case Report in English Language

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    Erkin Sağlam

    2015-03-01

    Full Text Available Cardiac and pulmonary anomalies are common among patients with situs inversus totalis. Renal anomalies, including renal agenesis, dysplasia, hypoplasia, ectopia, polycystic kidney, and horseshoe kidney have been reported. We report a case of renal cell carcinoma in a patient with situs inversus totalis (SIT. Our case represents the fourth case report of renal cell carcinoma in a patient with situs inversus totalis and to the best of our knowledge this is the first report in English language. Due to the higher frequency of cardiac, pulmonary, renal, and vascular anomalies the management of patients with situs inversus and urologic disease requires careful preoperative evaluation.

  9. SLC30A9 mutation affecting intracellular zinc homeostasis causes a novel cerebro-renal syndrome.

    Science.gov (United States)

    Perez, Yonatan; Shorer, Zamir; Liani-Leibson, Keren; Chabosseau, Pauline; Kadir, Rotem; Volodarsky, Michael; Halperin, Daniel; Barber-Zucker, Shiran; Shalev, Hanna; Schreiber, Ruth; Gradstein, Libe; Gurevich, Evgenia; Zarivach, Raz; Rutter, Guy A; Landau, Daniel; Birk, Ohad S

    2017-02-09

    A novel autosomal recessive cerebro-renal syndrome was identified in consanguineous Bedouin kindred: neurological deterioration was evident as of early age, progressing into severe intellectual disability, profound ataxia, camptocormia and oculomotor apraxia. Brain MRI was normal. Four of the six affected individuals also had early-onset nephropathy with features of tubulo-interstitial nephritis, hypertension and tendency for hyperkalemia, though none had rapid deterioration of renal function. Genome wide linkage analysis identified an ∼18 Mb disease-associated locus on chromosome 4 (maximal logarithm of odds score 4.4 at D4S2971; θ = 0). Whole exome sequencing identified a single mutation in SLC30A9 within this locus, segregating as expected within the kindred and not found in a homozygous state in 300 Bedouin controls. We showed that SLC30A9 (solute carrier family 30 member 9; also known as ZnT-9) is ubiquitously expressed with high levels in cerebellum, skeletal muscle, thymus and kidney. Confocal analysis of SH-SY5Y cells overexpressing SLC30A9 fused to enhanced green fluorescent protein demonstrated vesicular cytosolic localization associated with the endoplasmic reticulum, not co-localizing with endosomal or Golgi markers. SLC30A9 encodes a putative zinc transporter (by similarity) previously associated with Wnt signalling. However, using dual-luciferase reporter assay in SH-SY5Y cells we showed that Wnt signalling was not affected by the mutation. Based on protein modelling, the identified mutation is expected to affect SLC30A9's highly conserved cation efflux domain, putatively disrupting its transmembrane helix structure. Cytosolic Zn2+ measurements in HEK293 cells overexpressing wild-type and mutant SLC30A9 showed lower zinc concentration within mutant rather than wild-type SLC30A9 cells. This suggests that SLC30A9 has zinc transport properties affecting intracellular zinc homeostasis, and that the molecular mechanism of the disease is through

  10. A complicated case of antepartum eclamptic fit with HELLP syndrome, acute renal failure and multiple intracranial hemorrhages: A mortality report

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    Ahmed Samy El-agwany

    2016-04-01

    Full Text Available HELLP is an acronym for hemolysis, elevated liver enzymes and low platelets count, affecting 0.2–12% of all pregnancies or 4–12% of those with preeclampsia. The maternal mortality reported from the literature is up 4% due to disseminated intravascular coagulation, placental abruption, acute renal failure, eclampsia, and cerebral hemorrhage. A 20 year old, G2P1, at 36 weeks of gestation, was referred to our hospital because of postictal coma state with bilateral mydriasis and epistaxis due to repeated antepartum eclamptic fits. Elevated blood pressure level 170/110 mmHg was accompanied with massive proteinuria. Cesarean section was performed and female newborn were delivered. Laboratory findings were characteristic of preeclampsia, HELLP syndrome and renal failure. The patient developed an intraventricular hematoma and an intracerebral hemorrhage with subarachnoid one, which were not suitable to neurosurgical treatment. The patient died from refractory hemolytic anemia, spontaneous bleeding of multiple organs, renal failure and intracranial hemorrhage. Preeclampsia, HELLP syndrome, and acute fatty liver of pregnancy might overlap and be associated with potentially fatal complications, including intracranial hemorrhage, as in the present case. Early detection and diagnosis are crucial to ensure appropriate management and treatment success.

  11. Evidence of Uncoupling between Renal Dysfunction and Injury in Cardiorenal Syndrome: Insights from the BIONICS Study

    Science.gov (United States)

    Legrand, Matthieu; De Berardinis, Benedetta; Gaggin, Hanna K.; Magrini, Laura; Belcher, Arianna; Zancla, Benedetta; Femia, Alexandra; Simon, Mandy; Motiwala, Shweta; Sambhare, Rasika; Di Somma, Salvatore; Mebazaa, Alexandre; Vaidya, Vishal S.; Januzzi, James L.; (GREAT), from the Global Research on Acute Conditions Team

    2014-01-01

    Objective The objective of the study was to assess urinary biomarkers of renal injury for their individual or collective ability to predict Worsening renal function (WRF) in patients with acutely decompensated heart failure (ADHF). Methods In a prospective, blinded international study, 87 emergency department (ED) patients with ADHF were evaluated with biomarkers of cardiac stretch (B type natriuretic peptide [BNP] and its amino terminal equivalent [NT-proBNP], ST2), biomarkers of renal function (creatinine, estimated glomerular filtration rate [eGFR]) and biomarkers of renal injury (plasma neutrophil gelatinase associated lipocalin [pNGAL], urine kidney injury molecule-1 [KIM-1], urine N-acetyl-beta-D-glucosaminidase [NAG], urine Cystatin C, urine fibrinogen). The primary endpoint was WRF. Results 26% developed WRF; baseline characteristics of subjects who developed WRF were generally comparable to those who did not. Biomarkers of renal function and urine biomarkers of renal injury were not correlated, while urine biomarkers of renal injury correlated between each other. Biomarker concentrations were similar between patients with and without WRF except for baseline BNP. Although plasma NGAL was associated with the combined endpoint, none of the biomarker showed predictive accuracy for WRF. Conclusions In ED patients with ADHF, urine biomarkers of renal injury did not predict WRF. Our data suggest that a weak association exists between renal dysfunction and renal injury in this setting (Clinicaltrials.gov NCT#0150153). PMID:25386851

  12. Evidence of uncoupling between renal dysfunction and injury in cardiorenal syndrome: insights from the BIONICS study.

    Directory of Open Access Journals (Sweden)

    Matthieu Legrand

    Full Text Available The objective of the study was to assess urinary biomarkers of renal injury for their individual or collective ability to predict Worsening renal function (WRF in patients with acutely decompensated heart failure (ADHF.In a prospective, blinded international study, 87 emergency department (ED patients with ADHF were evaluated with biomarkers of cardiac stretch (B type natriuretic peptide [BNP] and its amino terminal equivalent [NT-proBNP], ST2, biomarkers of renal function (creatinine, estimated glomerular filtration rate [eGFR] and biomarkers of renal injury (plasma neutrophil gelatinase associated lipocalin [pNGAL], urine kidney injury molecule-1 [KIM-1], urine N-acetyl-beta-D-glucosaminidase [NAG], urine Cystatin C, urine fibrinogen. The primary endpoint was WRF.26% developed WRF; baseline characteristics of subjects who developed WRF were generally comparable to those who did not. Biomarkers of renal function and urine biomarkers of renal injury were not correlated, while urine biomarkers of renal injury correlated between each other. Biomarker concentrations were similar between patients with and without WRF except for baseline BNP. Although plasma NGAL was associated with the combined endpoint, none of the biomarker showed predictive accuracy for WRF.In ED patients with ADHF, urine biomarkers of renal injury did not predict WRF. Our data suggest that a weak association exists between renal dysfunction and renal injury in this setting (Clinicaltrials.gov NCT#0150153.

  13. Metabolic syndrome in hemodialysis patients as a risk factor for new-onset diabetes mellitus after renal transplant: a prospective observational study

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    Bonet J

    2013-09-01

    Full Text Available Josep Bonet1, Albert Martinez-Castelao2, Beatriz Bayés11Department of Nephrology, Hospital Universitari Germans Trias i Pujol, Badalona, Spain; 2Department of Nephrology, Hospital Universitari de Bellvitge, IDIBELL, Hospitalet de Llobregat, Barcelona, SpainPurpose: Metabolic syndrome is a cluster of biochemical abnormalities including cardiovascular and diabetes risk factors. The development of diabetes mellitus after renal transplant represents a major posttransplant complication that may adversely affect graft/patient survival. The aim of this study was to assess the role of metabolic syndrome in patients on hemodialysis as a risk factor for the incidence of new-onset diabetes mellitus after renal transplant.Patients and methods: This was a prospective observational epidemiologic study carried out in adult nondiabetic patients undergoing chronic hemodialysis and on the renal transplant waiting list between November 2008 and April 2009. Patients were followed up from Visit 1 (baseline to 6 months after the renal transplant. The analysis of the role of metabolic syndrome in hemodialysis patients as a risk factor for the incidence of new-onset diabetes mellitus after renal transplant included the estimation of relative risk and its 95% confidence interval (CI.Results: A total of 383 evaluable patients were entered into the study (mean age, 52.7 years; male, 57.7%; Caucasian, 90.1%. The prevalence of metabolic syndrome on hemodialysis was 30.4% (95% CI, 25.8%–35.4%. Hypertension was the most prevalent criterion for metabolic syndrome (65.0%, followed by low levels of high-density lipoprotein cholesterol (52.7%, abdominal obesity (36.2%, hypertriglyceridemia (32.4%, and impaired glucose (8.9%. After the renal transplant, the prevalence of metabolic syndrome was still 25.8%. During the posttransplant period, the incidence of new-onset diabetes mellitus reached 13.0% (95% CI, 7.8%–20.6% and patients with pretransplant metabolic syndrome were 2

  14. The association between renal stone disease and cholesterol gallstones: the easy to believe and not hard to retrieve theory of the metabolic syndrome.

    Science.gov (United States)

    Ahmed, Mohamed H; Barakat, Salma; Almobarak, Ahmed O

    2014-07-01

    Renal stone disease and gallstone disease are widely prevalent and costly disease across the globe. Both renal stone disease and gallstone disease are associated with a variety of diseases including obesity, metabolic syndrome, dyslipidemia, hypertension, insulin resistance diabetes and gout. Importantly, the presence of either renal stone disease or gallstone disease is associated with an increased risk of cardiovascular disease. In a recent study of the Atherosclerosis Risk in Communities (ARIC), individuals with a history of gallstones were 54% more likely to report a history of nephrolithiasis after adjusting for age, gender, body size and other factors. Furthermore, in three large cohorts including over 240,000 subjects: the Nurses' Health Studies (NHS) I and II and the Health Professionals Follow-up Study (HPFS), showed that gallstone disease is independently associated with nephrolithiasis. The mechanisms linking gallstone disease and renal stone disease are complex and not yet established. Insulin resistance, lithogenic diets, alterations of transporters in gallbladder and urinary system, and pH are possible potential mechanisms for future exploration. How the liver communicates with kidney in individuals with renal stone disease and gallstone disease is not well known and whether this communication is similar as in hepto-renal syndrome is subject for future research. Further research is needed to determine: (i) the underlying mechanisms of renal stone disease and gallstone disease; (ii) the potential treatment of renal stone disease and gallstone disease.

  15. Therapeutic effects of continuous renal replacement in patients with multiple organ dysfunction syndrome in ICU

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    Shuang-qing LIU

    2013-05-01

    Full Text Available Objective  To investigate the effects of continuous renal replacement therapy (CRRT on patients with multiple organ dysfunction syndrome (MODS. Methods  Forty-seven patients with MODS, admitted to the Department of SICU of First Affiliated Hospital of General Hospital of PLA, were divided into two groups according to the causative agents: the sepsis group (n=28 and the non-sepsis group (n=19. All the patients involved were treated with CRRT therapy. The systemic and brain hemodynamic parameters, and oxygenation and metabolic variables were assessed immediately before and 12 hours after CRRT. The expected mortality was obtained by APACHE Ⅱ score, and it was compared with the actual mortality to obtain the standard mortality, of which less than 0.9 was defined as an improved survival rate. Results  After 12 hours of CRRT treatment, all the variables (except mean arterial pressure and brain hemodynamics were significantly improved in the sepsis group (P<0.05. The survival rate in ICU was 60.7% with a standard mortality of 0.70. In the non-sepsis group, the survival rate in ICU was only 15.8% and the standard mortality was 1.77. Only the FiO2 was found to be significantly improved in the non-sepsis group. Conclusion  CRRT may significantly improve the clinical outcome and survival rate of patients with sepsis-caused MODS, but no obvious effect is found among the patients with MODS caused by non-sepsis factors.

  16. Renal angiomyolipoma in Birt-Hogg-Dube syndrome: A case study supporting overlap with tuberous sclerosis complex.

    Science.gov (United States)

    Dow, Eryn; Winship, Ingrid

    2016-12-01

    Birt-Hogg-Dube syndrome (BHD) is an autosomal dominant disease characterised by benign cutaneous lesions, pulmonary cysts, and an increased risk of renal tumors. This rare condition is due to a mutation in the folliculin (FLCN) gene on chromosome 17q11.2, which has a role in the mechanistic/mammalian target of rapamycin (mTOR) signaling pathway of tumorigenesis. This case illustrates a patient with BHD and a renal angiomyolipoma, a neoplastic lesion not usually associated with BHD but common in Tuberous Sclerosis Complex (TSC). There is both clinical and molecular overlap between BHD and TSC, which may arise from similarities in function of the TSC and FLCN proteins in the mTOR pathway; this case further demonstrates this potential correlation. © 2016 Wiley Periodicals, Inc.

  17. Vasculotoxic snake bite presenting with sepsis, acute renal failure, disseminated intravascular coagulation, and acute respiratory distress syndrome

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    Vikram Bhausaheb Vikhe

    2013-01-01

    Full Text Available Vasculotoxic snake bites are well known to cause local complications like necrosis and cellulitis and systemic complications such as coagulopathy, acute renal failure (ARF, and hemolysis. We report a case of young female patient who was bitten by a viper. She developed cellulitis, sepsis, ARF, and Disseminated Intravascular Coagulation. She was treated for the above complications and all her renal and hematological parameters returned to normal on seventh day. After this, on the same day, patient developed Acute Respiratory Distress Syndrome probably due to the direct toxic effect of venom on pulmonary vascular endothelium which has been reported as a late complication of snake venom. With close monitoring and proper management of complications, the patient recovered and walked out of the hospital on the twenty first day without any complications.

  18. Creatinine clearance, urinary excretion of glomerular basement membrane antigens and renal histology in congenital nephrotic syndrome of Finnish type.

    Science.gov (United States)

    Huttunen, N P

    1977-04-01

    The endogenous creatinine clearance and urinary excretion rate of glomerular basement membrane (GBM) antigens were followed from 2 to 19 months in fifteen patients with congenital nephrotic syndrome (CNF). The quantitative examination of renal morphology was made on fourteen of these patients. Creatinine clearance increased during the first few months of life and thereafter gradually decreased. The urinary excretion rate of GBM antigens rose during the course of the disease. The creatinine clearance did not correlate significantly with glomerular fibrosis but it did correlate with tubular atrophy and interstitial fibrosis. The urinary excretion of GBM antigens correlated significantly with glomerular and interstitial fibrosis and with tubular atrophy. It is concluded that there is a clear progress in the disease and the renal histological changes probably are caused by accumulation of GBM material in glomeruli.

  19. The Relation between Fructose-Induced Metabolic Syndrome and Altered Renal Haemodynamic and Excretory Function in the Rat

    Directory of Open Access Journals (Sweden)

    Mohammed H. Abdulla

    2011-01-01

    Full Text Available This paper explores the possible relationships between dietary fructose and altered neurohumoral regulation of renal haemodynamic and excretory function in this model of metabolic syndrome. Fructose consumption induces hyperinsulinemia, hypertriglyceridaemia, insulin resistance, and hypertension. The pathogenesis of fructose-induced hypertension is dubious and involves numerous pathways acting both singly and together. In addition, hyperinsulinemia and hypertension contribute significantly to progressive renal disease in fructose-fed rats. Moreover, increased activity of the renin-angiotensin and sympathetic nervous systems leading to downregulation of receptors may be responsible for the blunted vascular sensitivity to angiotensin II and catecholamines, respectively. Various approaches have been suggested to prevent the development of fructose-induced hypertension and/or metabolic alteration. In this paper, we address the role played by the renin-angiotensin and sympathetic nervous systems in the haemodynamic alterations that occur due to prolonged consumption of fructose.

  20. Fatal group A streptococcal necrotizing fasciitis and toxic shock syndrome in a patient with psoriasis and chronic renal impairment.

    Science.gov (United States)

    Chong, Alvin H; Burrows, Nigel P

    2002-08-01

    A 78-year-old woman presented with rapid onset of skin pain which evolved into oedema, discoloration and infarction. She was diagnosed with group A beta-haemolytic streptococcus (Streptococcus pyogenes) necrotizing fasciitis and streptococcal toxic shock syndrome. The patient had a past history of psoriasis and end-stage renal impairment. Despite treatment with multiple antibiotics in an intensive care unit, the skin infarction involving the upper trunk continued to expand and the patient died within 24 hours of hospital admission. Group A streptococcus and Staphylococcus aureus were cultured from a tissue biopsy. Renal failure and compromised skin barrier function are known to predispose to invasive streptococcal infections, but necrotizing fasciitis has only rarely been reported in association with psoriasis. This case illustrates the fulminant nature of the infection.

  1. Effect of renal shock wave lithotripsy on the development of metabolic syndrome in a juvenile swine model: a pilot study.

    Science.gov (United States)

    Handa, Rajash K; Liu, Ziyue; Connors, Bret A; Alloosh, Mouhamad; Basile, David P; Tune, Johnathan D; Sturek, Michael; Evan, Andrew P; Lingeman, James E

    2015-04-01

    We performed a pilot study to assess whether renal shock wave lithotripsy influences metabolic syndrome onset and severity. Three-month-old juvenile female Ossabaw miniature pigs were treated with shock wave lithotripsy (2,000 shock waves at 24 kV with 120 shock waves per minute in 2) or sham shock wave lithotripsy (no shock waves in 2). Shock waves were targeted to the upper pole of the left kidney to model treatment that would also expose the pancreatic tail to shock waves. Pigs were then instrumented to directly measure arterial blood pressure via an implanted radiotelemetry device. They later received a hypercaloric atherogenic diet for about 7 months. Metabolic syndrome development was assessed by the intravenous glucose tolerance test. Metabolic syndrome progression and severity were similar in the sham treated and lithotripsy groups. The only exception arterial blood pressure, which remained relatively constant in sham treated pigs but began to increase at about 2 months towards hypertensive levels in lithotripsy treated pigs. Metabolic data on the 2 groups were pooled to provide a more complete assessment of metabolic syndrome development and progression in this juvenile pig model. The intravenous glucose tolerance test revealed substantial insulin resistance with impaired glucose tolerance within 2 months on the hypercaloric atherogenic diet with signs of further metabolic impairment at 7 months. These preliminary results suggest that renal shock wave lithotripsy is not a risk factor for worsening glucose tolerance or diabetes mellitus onset. However, it appears to be a risk factor for early onset hypertension in metabolic syndrome. Copyright © 2015 American Urological Association Education and Research, Inc. Published by Elsevier Inc. All rights reserved.

  2. Aerobic Exercise Improves Signs of Restless Leg Syndrome in End Stage Renal Disease Patients Suffering Chronic Hemodialysis

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    Mojgan Mortazavi

    2013-01-01

    Full Text Available Background. Restless leg syndrome (RLS is one of the prevalent complaints of patients with end stage renal diseases suffering chronic hemodialysis. Although there are some known pharmacological managements for this syndrome, the adverse effect of drugs causes a limitation for using them. In this randomized clinical trial we aimed to find a nonpharmacological way to improve signs of restless leg syndrome and patients’ quality of life. Material and Methods. Twenty-six patients were included in the study and divided into 2 groups of control and exercise. The exercise group used aerobic exercise during their hemodialysis for 16 weeks. The quality of life and severity of restless leg syndrome were assessed at the first week of study and final week. Data were analyzed using SPSS software. Results. The difference of means of RLS signs at the first week of study and final week was in exercise group and in control group. There was not any statistical difference between control group and exercise group in quality of life at the first week of study and final week. Conclusions. We suggest using aerobic exercise for improving signs of restless leg syndrome, but no evidence was found for its efficacy on patient’s quality of life.

  3. Investigating the effects of climatic variables and reservoir on the incidence of hemorrhagic fever with renal syndrome in Huludao City, China: a 17-year data analysis based on structure equation model

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    Shen Tiefeng

    2009-07-01

    Full Text Available Abstract Background HFRS is a serious public health problem in China and the study on HFRS is important in China for its large population. The present study aimed to explore the impact of climatic variables and reservoir on the incidence of HFRS in Huludao City, an epidemic focus of the disease in northeastern China. Methods Structure Equation Model (SEM, a statistical technique for testing and estimating causal relationships, was conducted based on climatic variables, virus-carrying index among rodents, and incidence of HFRS in the city during the period 1990 to 2006. The linear structural relationships (LISREL software (Scientific Software International, Lincolnwood, IL was used to fit SEMs. Results Temperature, precipitation, relative humidity and virus-carrying index among rodents have shown positive correlations with the monthly incidence of HFRS, while air pressure had a negative correlation with the incidence. The best-fit SEM model fitted well with the data-based correlation matrix, P value was more than 0.56, root mean square error of approximation (RMSEA equaled to 0, goodness-of-fit index (GFI was more than 0.99. Conclusion Climate and reservoirs have affected the incidence of HFRS in Huludao City, located in northeastern China. Climate affects HFRS incidence mainly through the effect on reservoir in the study area. HFRS prevention and control should give more consideration to rodent control and climate variations.

  4. Investigating the effects of climatic variables and reservoir on the incidence of hemorrhagic fever with renal syndrome in Huludao City, China: a 17-year data analysis based on structure equation model

    Science.gov (United States)

    2009-01-01

    Background HFRS is a serious public health problem in China and the study on HFRS is important in China for its large population. The present study aimed to explore the impact of climatic variables and reservoir on the incidence of HFRS in Huludao City, an epidemic focus of the disease in northeastern China. Methods Structure Equation Model (SEM), a statistical technique for testing and estimating causal relationships, was conducted based on climatic variables, virus-carrying index among rodents, and incidence of HFRS in the city during the period 1990 to 2006. The linear structural relationships (LISREL) software (Scientific Software International, Lincolnwood, IL) was used to fit SEMs. Results Temperature, precipitation, relative humidity and virus-carrying index among rodents have shown positive correlations with the monthly incidence of HFRS, while air pressure had a negative correlation with the incidence. The best-fit SEM model fitted well with the data-based correlation matrix, P value was more than 0.56, root mean square error of approximation (RMSEA) equaled to 0, goodness-of-fit index (GFI) was more than 0.99. Conclusion Climate and reservoirs have affected the incidence of HFRS in Huludao City, located in northeastern China. Climate affects HFRS incidence mainly through the effect on reservoir in the study area. HFRS prevention and control should give more consideration to rodent control and climate variations. PMID:19583875

  5. Persistence of secondary restless legs syndrome in a phantom limb caused by end-stage renal disease.

    Science.gov (United States)

    Nishida, Shingo; Hitsumoto, Akiko; Namba, Kazuyoshi; Usui, Akira; Inoue, Yuichi

    2013-01-01

    Our patient had secondary restless legs syndrome (RLS) in the left lower limb caused by end-stage renal disease (ESRD). Severe RLS symptoms persisted even after amputation of the affected limb. Considering that oral administration of a dopamine receptor agonist was effective in treating the RLS in the phantom limb in this case, dysfunction of the central dopaminergic system was thought to be involved in the phantom limb-RLS mechanism. The persistence of RLS symptoms even after amputation of the affected limb suggests that the area responsible for ESRD-related RLS symptoms exists at the spinal level or in the higher central nervous system.

  6. Managing Renal Cell Carcinoma Associated Paraneoplastic Syndrome with Nephron-sparing Surgery in a Patient with von Hippel-Lindau

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    John M. DiBianco

    2017-07-01

    Full Text Available A patient with germline von Hippel-Lindau (VHL gene alteration and history of multiple tumors present with classical paraneoplastic syndrome (PNS associated with renal cell carcinoma (RCC. She underwent open nephron sparing surgery with resolution of symptoms. She remained without recurrence of RCC for the initial 2 years of her follow-up. To the best of our knowledge, this case represents the first in which PNS was specifically resolved using a partial nephrectomy in a patient with VHL. This case report provides initial evidence for the potential role of nephron sparing surgery in the management of paraneoplastic symptoms associated with hereditary RCC.

  7. Renoscintigraphy in assessment of renal lesions in children after hemolytic-uremic syndrome; Renoscyntygrafia w ocenie skutkow uszkodzenia nerek u dzieci po przebytym zespole hemolityczno-mocznicowym

    Energy Technology Data Exchange (ETDEWEB)

    Lass, P.; Marczak, E.; Romanowicz, G. [Akademia Medyczna, Gdansk (Poland); and others

    1994-12-31

    The aim of the study was to assess the role of renoscintigraphic examination in monitoring of patients after the hemolytic-uremic syndrome. 27 children mean 9 years the hemolytic-uremic syndrome underwent the complex of biochemical, ultrasound and renoscintigraphic examinations. The abnormal renoscintigraphic was seen in 85.1% of children, while the alternative test described the renal lesion in 29-66%. Renoscintigraphic examination seems to be the most sensitive in monitoring of remote sequel in patients after HUS. Those patients should undergone long-lasting observation, for the sake of possibility of development of renal insufficiency. (author). 14 refs.

  8. Vesicourethral reflux-induced renal failure in a patient with ICF syndrome due to a novel DNMT3B mutation.

    Science.gov (United States)

    Kutluğ, Seyhan; Ogur, Gönül; Yilmaz, Aysegül; Thijssen, Peter E; Abur, Ummet; Yildiran, Alisan

    2016-12-01

    ICF syndrome is a primary immunodeficiency disease characterized by hypo- or agammaglobulinemia, centromeric instability mainly on chromosomes 1, 9, and 16 and facial anomalies. ICF syndrome presents with frequent respiratory tract infections in infancy. A 20-month-old female patient was referred to our clinic due to frequent lower respiratory tract infections. ICF syndrome was considered because of comorbidity of hypogammaglobulinemia, facial anomalies, and neuromotor growth retardation. Metaphase chromosome analysis revealed centromeric instability on chromosomes 1, 9, and 16 and through Sanger a previously unreported homozygous missense mutation (c.1805T>C; [p.V602A]) was identified in the DNMT3B, confirming ICF1. The patient was found to have a breakdown in renal function 1 year later; the urinary system was examined and bilateral vesicoureteral reflux was found, warranting the need for dialysis in time. This report expands the mutation spectrum of ICF1 and is the first to describe bilateral vesicoureteral reflux accompanying ICF syndrome. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  9. The hanta hunting study: underdiagnosis of Puumala hantavirus infections in symptomatic non-travelling leptospirosis-suspected patients in the Netherlands, in 2010 and April to November 2011.

    NARCIS (Netherlands)

    M. Goeijenbier (Marco); R.A. Hartskeerl; J.H.J. Reimerink (Johan); J. Verner-Carlsson; J.F. Wagenaar; M.G.A. Goris (Marga); B.E.E. Martina (Byron); Å. Lundkvist (Åke); M.P.G. Koopmans D.V.M. (Marion); A.D.M.E. Osterhaus (Albert); E.C.M. Van Gorp (Eric C. M.); C.B.E.M. Reusken (Chantal)

    2014-01-01

    textabstractLeptospirosis and haemorrhagic fever with renal syndrome (HFRS) are hard to distinguish clinically since these two important rodent-borne zoonoses share hallmark symptoms such as renal failure and haemorrhage. Leptospirosis is caused by infection with a spirochete while HFRS is the resul

  10. The hanta hunting study: Underdiagnosis of puumala hantavirus infections in symptomatic non-travelling leptospirosis-suspected patients in the Netherlands, in 2010 and April to November 2011

    NARCIS (Netherlands)

    M. Goeijenbier (Marco); R.A. Hartskeerl; J.H.J. Reimerink (Johan); J. Verner-Carlsson; J.F. Wagenaar; M.G.A. Goris (Marga); B.E.E. Martina (Byron); Å. Lundkvist (Åke); M.P.G. Koopmans D.V.M. (Marion); A.D.M.E. Osterhaus (Albert); E.C.M. Van Gorp (Eric C. M.); C.B.E.M. Reusken (Chantal)

    2014-01-01

    textabstractLeptospirosis and haemorrhagic fever with renal syndrome (HFRS) are hard to distinguish clinically since these two important rodent-borne zoonoses share hallmark symptoms such as renal failure and haemorrhage. Leptospirosis is caused by infection with a spirochete while HFRS is the resul

  11. The functional state of neutrophils correlates with the severity of renal dysfunction in children with hemolytic uremic syndrome.

    Science.gov (United States)

    Fernandez, Gabriela C; Gomez, Sonia A; Ramos, Maria V; Bentancor, Leticia V; Fernandez-Brando, Romina J; Landoni, Veronica I; Lopez, Laura; Ramirez, Flavia; Diaz, Mario; Alduncin, Marta; Grimoldi, Irene; Exeni, Ramon; Isturiz, Martin A; Palermo, Marina S

    2007-01-01

    Hemolytic Uremic Syndrome (HUS) is the main cause of acute renal failure in children. The high percentage of patients who develop long-term sequelae constitutes an important medical concern. The identification of parameters that correlate with the degree of renal failure may be useful to plan the best treatment soon after hospitalization. Here, we investigated the functional state of neutrophils (PMN) from HUS patients on admission, before dialysis and/or transfusion, in relation to the severity of renal impairment reached during the acute period (AP). We found that all PMN activation parameters measured in severe cases of HUS (HUS AP3) were statistically lower comparing to children with mild cases of HUS (HUS AP1). As HUS PMN phenotype and dysfunction is compatible with that of cells undergoing cell death, we also studied spontaneous apoptosis. Not only were HUS PMN not apoptotic, but HUS AP3 PMN showed an increased survival. Almost all phenotypic and functional parameters measured on PMN correlated with severity. Our results revealed a marked deactivation of PMN in severe cases of HUS, and suggest that studying the functional state of PMN could be of prognostic value.

  12. Fulminant Buddchiari syndrome caused by renal primitive neuroectodermal tumor with inferior vena cava thrombus extending to atrium.

    Science.gov (United States)

    Mete, Uttam K; Singh, Dig Vijay; Bhattacharya, Anish; Kakkar, Nandita

    2015-01-01

    Primitive neuroectodermal tumors (PNET) of the kidney are rare, the diagnosis usually being made at histopathology. A young female presented with a massive right renal mass with features of hepatic dysfunction. Computed tomography scan of the abdomen revealed a large tumor of right kidney with tumor thrombus extending from inferior vena cava (IVC) to right atrium with features suggesting Buddchiari syndrome (BCS). Needle biopsy of mass showed a round cell neoplasm and positive staining for neuron specific enolase and minimum inhibitory concentration-2 on immunohistochemistry. She was managed with neo-adjuvant chemotherapy, surgery and adjuvant chemotherapy. To the best of our knowledge this is the first case of renal PNET with inferior IVC tumor thrombus extending to right atrium with BCS. We suggest that renal PNET should be kept in mind as a differential diagnosis in young adults presenting with a large kidney mass extending to IVC that shows evidence of necrosis on imaging, which may be associated with BCS as in index case.

  13. Acute Renal Failure in Association with Community-Acquired Clostridium difficile Infection and McKittrick-Wheelock Syndrome

    Directory of Open Access Journals (Sweden)

    Robert M. Learney

    2011-08-01

    Full Text Available We report the case of a 65-year-old Caucasian woman who experienced two separate episodes of acute renal failure within an 18-month period, both requiring emergency admission and complicated treatment. Each episode was precipitated by hypovolaemia from intestinal fluid losses, but from two rare and independent pathologies. Her first admission was attributed to community-acquired Clostridium difficile-associated diarrhoea (CDAD and was treated in the intensive therapy unit. She returned 18 months later with volume depletion and electrolyte disturbances, but on this occasion a giant hypersecretory villous adenoma of the rectum (McKittrick-Wheelock syndrome was diagnosed following initial abnormal findings on digital rectal examination by a junior physician. Unlike hospital-acquired C. difficile, community-acquired infection is not common, although increasing numbers are being reported. Whilst community-acquired CDAD can be severe, it rarely causes acute renal failure. This case report highlights the pathological mechanisms whereby C. difficile toxin and hypersecretory villous adenoma of the rectum can predispose to acute renal failure, as well as the values of thorough clinical examination in the emergency room, and early communication with intensivist colleagues in dire situations.

  14. Association of urothelial carcinoma of the renal pelvis with papillary and medullary thyroid carcinomas. A new sporadic neoplastic syndrome?

    Science.gov (United States)

    Albores-Saavedra, Jorge; Dorantes-Heredia, Rita; Chablé-Montero, Fredy; Córdova-Ramón, Juan Carlos; Henson, Donald E

    2014-10-01

    We describe 2 adult women (72 and 54 years), 1 with a low-grade noninvasive papillary urothelial carcinoma of the renal pelvis, who 14 years later developed a papillary carcinoma in 1 thyroid lobe and a medullary carcinoma in the contralateral lobe. Both neoplasms were similar in size and appeared symmetrical. Despite its small size, the medullary carcinoma metastasized in multiple cervical lymph nodes. The second patient had a high-grade invasive papillary urothelial carcinoma of the renal pelvis that infiltrated the renal parenchyma and metastasized in one of the lungs. Five months later, a papillary carcinoma was discovered in the thyroid gland. The 2 papillary thyroid carcinomas were of the follicular variant. Adjacent to 1 papillary carcinoma, there was a dominant nodule of a colloid and adenomatous goiter. The medullary carcinoma contained stromal amyloid and was immunoreactive for calcitonin and carcinoembryonic antigen. There was no C-cell hyperplasia (medullary carcinoma in situ). The 2 patients are alive, 1 is living with pulmonary metastasis from the high-grade urothelial carcinoma. Twelve cases of this neoplastic association were registered in the Survey, Epidemiology, and End Results Program from 1980 to 2009. We believe that the combination of these unusual neoplasms in the same patient may represent a new sporadic neoplastic syndrome.

  15. Diagnosis and management of fluid overload in heart failure and cardio-renal syndrome: the "5B" approach.

    Science.gov (United States)

    Ronco, Claudio; Kaushik, Manish; Valle, Roberto; Aspromonte, Nadia; Peacock, W Frank

    2012-01-01

    Cardio-Renal syndrome may occur as a result of either primarily renal or cardiac dysfunction. This complex interaction requires a tailored approach to manage the underlying pathophysiology while optimizing the patient's symptoms and thus providing the best outcomes. Patients often are admitted to the hospital for signs and symptoms of congestion and fluid overload is the most frequent cause of subsequent re-admission. Fluid management is of paramount importance in the strategy of treatment for heart failure patients. Adequate fluid status should be obtained but a target value should be set according to objective indicators and biomarkers. Once the fluid excess is identified, a careful prescription of fluid removal by diuretics or extracorporeal therapies must be made. While delivering these therapies, adequate monitoring should be performed to prevent unwanted effects such as worsening of renal function or other complications. There is a very narrow window of optimal hydration for heart failure patients. Overhydration can result in myocardial stretching and potential decompensation. Inappropriate dehydration or relative reduction of circulating blood volume may result in distant organ damage caused by inadequate perfusion. We suggest consideration of the "5B" approach. This stands for balance of fluids (reflected by body weight), blood pressure, biomarkers, bioimpedance vector analysis, and blood volume. Addressing these parameters ensures that the most important issues affecting symptoms and outcomes are addressed. Furthermore, the patient is receiving the best possible care while avoiding unwanted side effects of the treatment. Copyright © 2012 Elsevier Inc. All rights reserved.

  16. Severe Renal Hemorrhage in a Pregnant Woman Complicated with Antiphospholipid Syndrome: A Case Report

    OpenAIRE

    Shohei Kawaguchi; Kouji Izumi; Takahiro Nohara; Tohru Miyagi; Hiroyuki Konaka; Atsushi Mizokami; Eitetsu Koh; Mikio Namiki

    2011-01-01

    Antiphospholipid syndrome is a systemic autoimmune disease with thrombotic tendency. Consensus guidelines for pregnancy with antiphospholipid syndrome recommend low-dose aspirin combined with unfractionated or low-molecular-weight heparin because antiphospholipid syndrome causes habitual abortion. We report a 36-year-old pregnant woman diagnosed with antiphospholipid syndrome receiving anticoagulation treatment. The patient developed left abdominal pain and gross hematuria at week 20 of pregn...

  17. Posterior Reversible Encephalopathy Syndrome in a Patient with Newly Diagnosed HIV Infection and End Stage Renal Disease.

    Science.gov (United States)

    Kurukumbi, Mohankumar; Castellanos, Maria I; Crawford, Amanda K; Gowdar, Shreyas D; Jayam-Trouth, Annapurni

    2013-01-01

    Posterior reversible encephalopathy syndrome (PRES) is a clinicoradiological syndrome in which patients present with an acute or subacute clinical presentation of seizures, visual disturbances, headache, and altered mental status. The pathophysiology of PRES may be explained by endothelial dysfunction that leads to transudation of fluids and protein, resulting in vasogenic cerebral edema. PRES is typically associated with many conditions such as hypertension, uremia, immunosuppressive drugs, and sepsis. This is a case report of a 39-year-old woman with untreated HIV infection and end-stage renal disease (ESRD) who developed PRES with a normal blood pressure and no other known causes of PRES. Untreated HIV is associated with known endothelial dysfunction and we believe that this, in combination with her untreated end-stage renal disease, contributed to her unique presentation of PRES. Although uncommon in HIV-infected patients and challenging to diagnose, prompt recognition of PRES is critical to provide appropriate care and ensure reversibility of the vasogenic edema seen in PRES.

  18. Posterior Reversible Encephalopathy Syndrome in a Patient with Newly Diagnosed HIV Infection and End Stage Renal Disease

    Directory of Open Access Journals (Sweden)

    Mohankumar Kurukumbi

    2013-01-01

    Full Text Available Posterior reversible encephalopathy syndrome (PRES is a clinicoradiological syndrome in which patients present with an acute or subacute clinical presentation of seizures, visual disturbances, headache, and altered mental status. The pathophysiology of PRES may be explained by endothelial dysfunction that leads to transudation of fluids and protein, resulting in vasogenic cerebral edema. PRES is typically associated with many conditions such as hypertension, uremia, immunosuppressive drugs, and sepsis. This is a case report of a 39-year-old woman with untreated HIV infection and end-stage renal disease (ESRD who developed PRES with a normal blood pressure and no other known causes of PRES. Untreated HIV is associated with known endothelial dysfunction and we believe that this, in combination with her untreated end-stage renal disease, contributed to her unique presentation of PRES. Although uncommon in HIV-infected patients and challenging to diagnose, prompt recognition of PRES is critical to provide appropriate care and ensure reversibility of the vasogenic edema seen in PRES.

  19. Renal dysfunction due to hydronephrosis by SAPHO syndrome: a case report

    OpenAIRE

    Kakoki, Katsura; Miyata, Yasuyoshi; Enokizono, Mikako; Uetani, Masataka; Sakai , Hideki

    2015-01-01

    Key Clinical Message Synovitis, Acne, Pustulosis, Hyperostosis, Osteitis (SAPHO) syndrome shows varied pathological symptoms. This is the first report of hydronephrosis due to the mechanical compression of bilateral ureters as a result of SAPHO syndrome. From our experience, MRI is the most useful imaging examination to check the upper urinary tract in SAPHO syndrome.

  20. Renal dysfunction due to hydronephrosis by SAPHO syndrome: a case report.

    Science.gov (United States)

    Kakoki, Katsura; Miyata, Yasuyoshi; Enokizono, Mikako; Uetani, Masataka; Sakai, Hideki

    2015-08-01

    Synovitis, Acne, Pustulosis, Hyperostosis, Osteitis (SAPHO) syndrome shows varied pathological symptoms. This is the first report of hydronephrosis due to the mechanical compression of bilateral ureters as a result of SAPHO syndrome. From our experience, MRI is the most useful imaging examination to check the upper urinary tract in SAPHO syndrome.

  1. Renal leishmaniasis as unusual cause of nephrotic syndrome in an HIV patient.

    Science.gov (United States)

    Amann, Kerstin; Bogdan, Christian; Harrer, Thomas; Rech, Juergen

    2012-04-01

    Renal involvement is a rare complication in HIV-1-infected patients leading to various pathologies and clinical symptoms. In addition to the classic HIV-1-associated nephropathy with collapsing-type focal segmental glomerulosclerosis and characteristic tubulocystic changes, which is more common in Afro-American than in Caucasian HIV-1 patients, immune complex GNs such as membranous GN and membranoproliferative GN are particularly common renal manifestations. Besides HIV-1 itself, a number of opportunistic infections may cause renal disease in HIV-1-infected patients. In this study, we report an unusual case of HIV-1 infection with a severe renal manifestation of systemic leishmaniasis that developed years after repeated visits to Mediterranean countries. The case presents several remarkable clinical, pathologic, and therapeutic aspects that may be important for daily clinical practice.

  2. Renal Leishmaniasis as Unusual Cause of Nephrotic Syndrome in an HIV Patient

    OpenAIRE

    2012-01-01

    Renal involvement is a rare complication in HIV-1–infected patients leading to various pathologies and clinical symptoms. In addition to the classic HIV-1–associated nephropathy with collapsing-type focal segmental glomerulosclerosis and characteristic tubulocystic changes, which is more common in Afro-American than in Caucasian HIV-1 patients, immune complex GNs such as membranous GN and membranoproliferative GN are particularly common renal manifestations. Besides HIV-1 itself, a number of ...

  3. Flash pulmonary edema in patients with renal artery stenosis--the Pickering Syndrome

    DEFF Research Database (Denmark)

    Pelta, Anna; Andersen, Ulrik B; Just, Sven

    2010-01-01

    We report the prevalence of flash pulmonary edema in patients consecutively referred for balloon angioplasty of uni- or bilateral renal artery stenosis (PTRA), and describe the characteristics of this special fraction of the patients. We further report two unusual cases.......We report the prevalence of flash pulmonary edema in patients consecutively referred for balloon angioplasty of uni- or bilateral renal artery stenosis (PTRA), and describe the characteristics of this special fraction of the patients. We further report two unusual cases....

  4. Rapidly progressive renal disease as part of Wolfram syndrome in a large inbred Turkish family due to a novel WFS1 mutation (p.Leu511Pro)

    DEFF Research Database (Denmark)

    Yuca, Sevil Ari; Rendtorff, Nanna Dahl; Boulahbel, Houda

    2012-01-01

    Wolfram syndrome, also named "DIDMOAD" (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness), is an inherited association of juvenile-onset diabetes mellitus and optic atrophy as key diagnostic criteria. Renal tract abnormalities and neurodegenerative disorder may occur in the thir...

  5. Acute renal failure secondary to drug-related crystalluria and/or drug reaction with eosinophilia and systemic symptom syndrome in a patient with metastatic lung cancer

    Directory of Open Access Journals (Sweden)

    Saime Paydas

    2017-01-01

    Full Text Available Drug reaction with eosinophilia and systemic symptoms (DRESS or drug-induced hypersensitivity is a severe adverse drug-induced reaction. Aromatic anticonvulsants, such as phenytoin, phenobarbital, and carbamazepine, and some drugs, can induce DRESS. Atypical crystalluria can be seen in patients treated with amoxycillin or some drugs and can cause acute renal failure. We describe a 66-year-old man who presented fever and rash and acute renal failure three days after starting amoxycillin. He was also using phenytoin because of cerebral metastatic lung cancer. Investigation revealed eosinophilia and atypical crystalluria. The diagnosis of DRESS syndrome was made, amoxicillin was stopped, and dose of phenytoin was reduced. No systemic corticosteroid therapy was prescribed. Symptoms began to resolve within three to four days. The aim of this paper is to highlight the importance of microscopic examination of urine in a case with acute renal failure and skin lesions to suspect DRESS syndrome.

  6. Rapid Response to Cyclosporin A and Favorable Renal Outcome in Nongenetic Versus Genetic Steroid-Resistant Nephrotic Syndrome.

    Science.gov (United States)

    Büscher, Anja K; Beck, Bodo B; Melk, Anette; Hoefele, Julia; Kranz, Birgitta; Bamborschke, Daniel; Baig, Sabrina; Lange-Sperandio, Bärbel; Jungraithmayr, Theresa; Weber, Lutz T; Kemper, Markus J; Tönshoff, Burkhard; Hoyer, Peter F; Konrad, Martin; Weber, Stefanie

    2016-02-05

    Treatment of congenital nephrotic syndrome (CNS) and steroid-resistant nephrotic syndrome (SRNS) is demanding, and renal prognosis is poor. Numerous causative gene mutations have been identified in SRNS that affect the renal podocyte. In the era of high-throughput sequencing techniques, patients with nongenetic SRNS frequently escape the scientific interest. We here present the long-term data of the German CNS/SRNS Follow-Up Study, focusing on the response to cyclosporin A (CsA) in patients with nongenetic versus genetic disease. Cross-sectional and longitudinal clinical data were collected from 231 patients with CNS/SRNS treated at eight university pediatric nephrology units with a median observation time of 113 months (interquartile range, 50-178). Genotyping was performed systematically in all patients. The overall mutation detection rate was high at 57% (97% in CNS and 41% in SRNS); 85% of all mutations were identified by the analysis of three single genes only (NPHS1, NPHS2, and WT1), accounting for 92% of all mutations in patients with CNS and 79% of all mutations in patients with SRNS. Remission of the disease in nongenetic SRNS was observed in 78% of patients after a median treatment period of 2.5 months; 82% of nongenetic patients responded within 6 months of therapy, and 98% of patients with nongenetic SRNS and CsA-induced complete remission (normalbuminemia and no proteinuria) maintained a normal renal function. Genetic SRNS, on the contrary, is associated with a high rate of ESRD in 66% of patients. Only 3% of patients with genetic SRNS experienced a complete remission and 16% of patients with genetic SRNS experienced a partial remission after CsA therapy. The efficacy of CsA is high in nonhereditary SRNS, with an excellent prognosis of renal function in the large majority of patients. CsA should be given for a minimum period of 6 months in these patients with nongenetic SRNS. In genetic SRNS, response to CsA was low and restricted to exceptional

  7. Acute renal failure: A rare presentation of Sheehan′s syndrome

    Directory of Open Access Journals (Sweden)

    Manzoor A Bhat

    2012-01-01

    Full Text Available Sheehan′s syndrome occurs as a result of ischemic pituitary necrosis secondary to severe postpartum bleeding. It is one of the most common causes of hypopituitarism, characterized by variable clinical presentation. Acute kidney injury occurs rarely in Sheehan′s syndrome and most of the cases have been found to be precipitated by rhabdomyolysis. We here present a case of Sheehan′s syndrome with acute kidney injury where theprecipitating cause was chronic hypocortisolemia. We believe this is the first reported case of Sheehan′s syndrome in which acute kidney injury was precipitated by adrenal insufficiency.

  8. Long term prognosis of acute coronary syndrome with chronic renal dysfunction treated in different therapy units at department of cardiology: a retrospective cohort study.

    Science.gov (United States)

    Fu, Cong; Sheng, Zulong; Yao, Yuyu; Wang, Xin; Yu, Chaojun; Ma, Genshan

    2015-01-01

    Coronary care unit is common in hospitals and clinical centers which offer intensive care and therapy for severe coronary artery disease patients. However, if coronary care unit could improve the long term prognosis of acute coronary syndrome patients with renal dysfunction remain unknown. Accordingly, we designed this study to evaluate the differences of incidence of major adverse cardiovascular events for acute coronary syndromes patients with renal dysfunction who treated in coronary care unit or normal unit. The primary end point was all cause mortality. A total of 414 acute coronary syndromes patients with renal dysfunction involved in the study. The results showed that during 12-48 months follow-up, death of any cause occurred in 1.8% patients (4 of 247) in coronary care unit group, as compared with 1.8% in the normal group (3 of 167) (hazard ratio, 1.098; 95% confidence interval, 0.246 to 4.904; P=0.903). Kaplan-Meier survival analysis showed that there were no significant differences between the two groups with respect to the risk of death (P=0.903), revascularization (P=0.948), stroke (P=0.542), heart failure (P=0.198). This trial firstly revealed that acute coronary syndromes patients with renal dysfunction treated in coronary care unit and normal units. Our study showed that acute coronary syndromes patients with renal dysfunction treated in coronary care unit obtained no significant benefits compared with patients in normal units, although there was a declining tendency of the risk of major adverse cardiovascular effectswith patients in coronary care unit.

  9. Long term prognosis of acute coronary syndrome with chronic renal dysfunction treated in different therapy units at department of cardiology: a retrospective cohort study

    Science.gov (United States)

    Fu, Cong; Sheng, Zulong; Yao, Yuyu; Wang, Xin; Yu, Chaojun; Ma, Genshan

    2015-01-01

    Coronary care unit is common in hospitals and clinical centers which offer intensive care and therapy for severe coronary artery disease patients. However, if coronary care unit could improve the long term prognosis of acute coronary syndrome patients with renal dysfunction remain unknown. Accordingly, we designed this study to evaluate the differences of incidence of major adverse cardiovascular events for acute coronary syndromes patients with renal dysfunction who treated in coronary care unit or normal unit. The primary end point was all cause mortality. A total of 414 acute coronary syndromes patients with renal dysfunction involved in the study. The results showed that during 12-48 months follow-up, death of any cause occurred in 1.8% patients (4 of 247) in coronary care unit group, as compared with 1.8% in the normal group (3 of 167) (hazard ratio, 1.098; 95% confidence interval, 0.246 to 4.904; P=0.903). Kaplan-Meier survival analysis showed that there were no significant differences between the two groups with respect to the risk of death (P=0.903), revascularization (P=0.948), stroke (P=0.542), heart failure (P=0.198). This trial firstly revealed that acute coronary syndromes patients with renal dysfunction treated in coronary care unit and normal units. Our study showed that acute coronary syndromes patients with renal dysfunction treated in coronary care unit obtained no significant benefits compared with patients in normal units, although there was a declining tendency of the risk of major adverse cardiovascular effectswith patients in coronary care unit. PMID:26770436

  10. Postpartum renal vein thrombosis.

    Science.gov (United States)

    Rubens, D; Sterns, R H; Segal, A J

    1985-01-01

    Renal vein thrombosis in adults is usually a complication of the nephrotic syndrome. Rarely, it has been reported in nonnephrotic women postpartum. The thrombosis may be a complication of the hypercoagulable state associated with both the nephrotic syndrome and pregnancy. Two postpartum patients with renal vein thrombosis and no prior history of renal disease are reported here. Neither patient had heavy proteinuria. In both cases, pyelonephritis was suspected clinically and the diagnosis of renal vein thrombosis was first suggested and confirmed by radiologic examination. Renal vein thrombosis should be considered in women presenting postpartum with flank pain.

  11. An experimental renal acidification defect in patients with hereditary fructose intolerance. II. Its distinction from classic renal tubular acidosis; its resemblance to the renal acidification defect associated with the Fanconi syndrome of children with cystinosis.

    Science.gov (United States)

    Morris, R C

    1968-07-01

    In adult patients with hereditary fructose intolerance (HFI) fructose induces a renal acidification defect characterized by (a) a 20-30% reduction in tubular reabsorption of bicarbonate (T HCO(3) (-)) at plasma bicarbonate concentrations ranging from 21-31 mEq/liter, (b) a maximal tubular reabsorption of bicarbonate (Tm HCO(3) (-)) of approximately 1.9 mEq/100 ml of glomerular filtrate, (c) disappearance of bicarbonaturia at plasma bicarbonate concentrations less than 15 mEq/liter, and (d) during moderately severe degrees of acidosis, a sustained capacity to maintain urinary pH at normal minima and to excrete acid at normal rates. In physiologic distinction from this defect, the renal acidification defect of patients with classic renal tubular acidosis is characterized by (a) just less than complete tubular reabsorption of bicarbonate at plasma bicarbonate concentrations of 26 mEq/liter or less, (b) a normal Tm HCO(3) (-) of approximately 2.8 mEq/100 ml of glomerular filtrate, and (c) during acidosis of an even severe degree, a quantitatively trivial bicarbonaturia, as well as (d) a urinary pH of greater than 6. That the fructose-induced renal acidification defect involves a reduced H(+) secretory capacity of the proximal nephron is supported by the magnitude of the reduction in T HCO(3) (-) (20-30%) and the simultaneous occurrence and the persistence throughout administration of fructose of impaired tubular reabsorption of phosphate, alpha amino nitrogen and uric acid.A reduced H(+) secretory capacity of the proximal nephron also appears operative in two unrelated children with hyperchloremic acidosis, Fanconi's syndrome, and cystinosis. In both, T HCO(3) (-) was reduced 20-30% at plasma bicarbonate concentrations ranging from 20-30 mEq/liter. The bicarbonaturia disappeared at plasma bicarbonate concentrations ranging from 15-18 mEq/liter, and during moderate degrees of acidosis, urinary pH decreased to less than 6, and the excretion rate of acid was normal.

  12. Treatment of multiple synchronous misdiagnosed renal cell cancers in a young patient affected by a "de novo" Von Hippel-Lindau syndrome.

    Science.gov (United States)

    Allasia, Marco; Battaglia, Antonino; Pasini, Barbara; Gazzera, Carlo; Calandri, Marco; Bosio, Andrea; Gontero, Paolo; Destefanis, Paolo

    2017-02-28

    Von Hippel-Lindau (VHL) disease is an autosomal dominant inherited syndrome occurring in one out of 36,000 live births. Diagnosis could be a challenge in patients with no familial VHL history. Renal cancer (RCC) represents one of the most important manifestations. RCC is usually recurrent and multifocal. Actually treating RCC in VHL patients represent a clinical dilemma: the oncological outcomes must be balanced against renal function preservation. A young man with a negative familial history was referred to our department with seven misdiagnosed renal masses. VHL disease was determined through genetic test. The multiple RCCs were treated by surgery and percutaneous thermal ablation by radiofrequency ablation (RFA) with complete control of RCC and no impairment of renal function. This case history confirms that VHL disease has to be suspected in young patients with evidence of synchronous multiple renal masses and in presence of specific clinical criteria.RFA appears to be safe in terms of oncological radicalism and in renal function preservation.In hereditary RCC, we should purpose, whenever it is possible, minimally invasive treatment in terms of low hospital stay and a minimal loss of renal tissue.

  13. The complexity of the cardio-renal link : taxonomy, syndromes, and diseases

    NARCIS (Netherlands)

    Zoccali, Carmine; Goldsmith, David; Agarwal, Rajiv; Blankestijn, Peter J.; Fliser, Danilo; Wiecek, Andrzej; Suleymanlar, Gultekin; Ortiz, Alberto; Massy, Ziad; Covic, Adrian; Martinez-Castelao, Alberto; Jager, Kitty J.; Dekker, Friedo W.; Lindholm, Bengt; London, Gerard

    2011-01-01

    Bidirectional mechanisms exist that link diseases affecting the heart and kidney. This link is complex and remains poorly understood; therefore, charting the shared territory of cardiovascular (CV) and renal medicine poses major problems. Until now, no convincing rationale for delineating new syndro

  14. The complexity of the cardio-renal link : taxonomy, syndromes, and diseases

    NARCIS (Netherlands)

    Zoccali, Carmine; Goldsmith, David; Agarwal, Rajiv; Blankestijn, Peter J.; Fliser, Danilo; Wiecek, Andrzej; Suleymanlar, Gultekin; Ortiz, Alberto; Massy, Ziad; Covic, Adrian; Martinez-Castelao, Alberto; Jager, Kitty J.; Dekker, Friedo W.; Lindholm, Bengt; London, Gerard

    2011-01-01

    Bidirectional mechanisms exist that link diseases affecting the heart and kidney. This link is complex and remains poorly understood; therefore, charting the shared territory of cardiovascular (CV) and renal medicine poses major problems. Until now, no convincing rationale for delineating new syndro

  15. Virus-Associated Hemophagocytic Syndrome in Renal Transplant Recipients: Report of 2 Cases from a Single Center

    Directory of Open Access Journals (Sweden)

    Koji Nanmoku

    2015-01-01

    Full Text Available Virus-associated hemophagocytic syndrome (HPS is a potentially fatal complication of immunosuppression for transplantation. However, it presents with heterogeneous clinical symptoms (fever, disturbed consciousness, and hepatosplenomegaly and laboratory findings (pancytopenia, elevated hepatic enzyme levels, abnormal coagulation, and hyperferritinemia, impeding diagnosis. Case 1: A 39-year-old female developed fever 4 years after ABO-incompatible living-related renal transplantation. Laboratory findings revealed thrombocytopenia, elevated hepatic enzymes, Epstein-Barr virus (EBV DNA seropositivity, and hyperferritinemia. EBV-associated HPS was confirmed by bone marrow aspiration. Steroid pulse therapy and etoposide were ineffective. Disseminated intravascular coagulation resulted in multiple organ failure, and the patient died 32 days after disease onset. Case 2: A 67-year-old male was admitted with rotavirus enteritis a month after living-unrelated renal transplantation. He developed sudden-onset high fever, disturbance of consciousness, and tachypnea 8 days after admission. Laboratory findings revealed elevated hepatic enzyme levels, hyperkalemia, and hyperferritinemia. Emergency continuous hemodiafiltration ameliorated the fever, and steroid pulse therapy improved abnormal laboratory values. Varicella-zoster virus meningitis was confirmed by spinal tap. Acyclovir improved consciousness, and he was discharged 87 days after admission. Fatal virus-associated HPS may develop in organ transplant patients receiving immunosuppressive therapy. Pathognomonic hyperferritinemia is useful for differential diagnosis.

  16. In-line Filtration Decreases Systemic Inflammatory Response Syndrome, Renal and Hematologic Dysfunction in Pediatric Cardiac Intensive Care Patients.

    Science.gov (United States)

    Sasse, Michael; Dziuba, Friederike; Jack, Thomas; Köditz, Harald; Kaussen, Torsten; Bertram, Harald; Beerbaum, Philipp; Boehne, Martin

    2015-08-01

    Cardiac surgery with cardiopulmonary bypass (CPB) frequently leads to systemic inflammatory response syndrome (SIRS) with concomitant organ malfunction. Infused particles may exacerbate inflammatory syndromes since they activate the coagulation cascade and alter inflammatory response or microvascular perfusion. In a randomized, controlled, prospective trial, we have previously shown that particle-retentive in-line filtration prevented major complications in critically ill children. Now, we investigated the effect of in-line filtration on major complications in the subgroup of cardiac patients. Children admitted to tertiary pediatric intensive care unit were randomized to either control or filter group obtaining in-line filtration throughout complete infusion therapy. Risk differences and 95 % confidence intervals (CI) of several complications such as SIRS, sepsis, mortality, various organ failure and dysfunction were compared between both groups using the Wald method. 305 children (n = 150 control, n = 155 filter group) with cardiac diseases were finally analyzed. The majority was admitted after cardiac surgery with CPB. Risk of SIRS (-11.3 %; 95 % CI -21.8 to -0.5 %), renal (-10.0 %; 95 % CI -17.0 to -3.0 %) and hematologic (-8.1 %; 95 % CI -14.2 to -0.2 %) dysfunction were significantly decreased within the filter group. No risk differences were demonstrated for occurrence of sepsis, any other organ failure or dysfunctions between both groups. Infused particles might aggravate a systemic hypercoagulability and inflammation with subsequent organ malfunction in pediatric cardiac intensive care patients. Particle-retentive in-line filtration might be effective in preventing SIRS and maintaining renal and hematologic function. In-line filtration offers a novel therapeutic option to decrease morbidity in cardiac intensive care.

  17. [White blood cell lysis syndrome after autologous peripheral blood stem cell transplantation in the treatment of renal AL amyloidosis. Case report].

    Science.gov (United States)

    Gatica, Antonio; Bertin, Pablo; Tagle, Rodrigo

    2006-06-01

    The treatment of AL amyloidosis was not successful until the advent of myeloablative chemotherapy consisting of high-dose intravenous melphalan followed by autologous peripheral blood stem cell transplantation. This new treatment has achieved better survival rates and, remarkably, it has obtained complete remission. Among patients with renal involvement, achievement of a complete hematological response was associated with a 50% reduction in proteinuria and stable creatinine clearance in more than 2/3 of patients. Despite of these excellent results, this new therapy is associated with significant toxicity, including the development of acute renal failure due to white blood cell lysis syndrome. We report a 59 year-old female with a nephrotic syndrome due to primary amyloidosis successfully treated autologous stem cell transplantation who developed acute renal failure caused by white blood cell lysis syndrome. The patient required treatment with granulocytic colony stimulating factor and intermittent hemofiltration and was discharged 23 days after melphalan administration with a satisfactory renal function and white blood cell count. After one year of follow up, she maintains a good glomerular filtration rate, a proteinuria of less than, 1 g/day and normal hematological values.

  18. Multiple chromophobe and clear cell renal cancer in a patient affected by Birt-Hogg-Dubè syndrome: a case report.

    Science.gov (United States)

    Castellucci, Roberto; Marchioni, Michele; Valenti, Sergio; Sortino, Giuseppe; Borgonovo, Giulio; Pesenti, Nicola; Vismara, Alberto C A; Circo, Maria C; Sessa, Barbara; Micheli, Emanuele; Lembo, Antonino

    2017-04-28

    Birt-Hogg-Dubé syndrome (BHDS) is a rare autosomal dominant characterized by the presence of fibrofolliculomas and/or trichodiscomas, pulmonary cysts, spontaneous pneumothorax, and renal tumors. The syndrome is linked to mutations in the FLCN gene, which is preferentially expressed in the skin, kidney, and lung. The aim of our paper is to describe a case of multiple bilateral renal cancer in a patient affected by BHDS. Patient subjected to enucleoresection seven kidney tumors discovered right after ultrasound performed for other reasons. Definitive histologic examination were as follows: multifocal type chromophobe renal cell carcinoma and clear cell. After 1 month, the patient was readmitted for spontaneous pneumothorax. After about a year, the patient was again subjected to resection of multiple renal tumors left. Histological examination proved that it was multifocal renal cell carcinoma, clear cell varieties. The genome analysis highlighted positive for mutation c. 1379_1380 of FLCN gene, BHDS gene. Currently, the patient is under close follow-up. After 1 year, the chest computed tomography (CT) confirmed the presence of minute air bubbles scattered on both sides. Instead, the abdominal CT was positive for a small round lesion 6 mm exophytic. The BHDS is a rare syndrome whose management is extremely complex both in terms of oncological and functional. Kidney tumors associated with BHDS usually have a favorable clinical course. Present evidence suggests a close follow-up of the carriers of the genetic mutation patients whether or not they have expressed the lesions of disease given the high rate of recurrence of renal lesions.

  19. Dialysis disequilibrium leading to posterior reversible encephalopathy syndrome in chronic renal failure.

    Science.gov (United States)

    Sengupta, Pratim; Biswas, Sumanta

    2016-11-01

    Dialysis disequilibrium syndrome is a neurological adverse effect of acute hemodialysis in advanced uremic patients. Dialysis disequilibrium has a wide spectrum of clinical manifestations starting from subtle uneasiness, confusion, to florid and complex life threatening neurological deficit. In this case study, we present a patient who developed sudden cortical blindness following hemodialysis due to posterior reversible encephalopathy, which is a rare presentation of dialysis disequilibrium syndrome.

  20. An adolescent with 48,xxyy syndrome with hypergonadotrophic hypogonadism, attention deficit hyperactive disorder and renal malformations

    OpenAIRE

    Prasad Katulanda; Rajapakse, J. Rasika D. K.; Jayani Kariyawasam; Rohan Jayasekara; Vajira H.W. Dissanayake

    2012-01-01

    48,XXYY is a rare sex chromosome aneuploidy affecting 1 in 18,000 to 50,000 male births. They present with developmental delay, hypogonadism, gynecomastia, intention tremors, and a spectrum of neurodevelopmental and psychiatric disorders. At one time this condition was considered a variant of Klinefelter syndrome. In clinically suspected cases, 48,XXYY syndrome can be diagnosed by chromosome culture and karyotyping. This patient presented with hypergonadotrophic hypogonadism, attention defici...

  1. Hereditary renal adysplasia, pulmonary hypoplasia and Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: a case report

    Science.gov (United States)

    2010-01-01

    Background Hereditary renal adysplasia is an autosomal dominant trait with incomplete penetrance and variable expression that is usually associated with malformative combinations (including Müllerian anomalies) affecting different mesodermal organs such as the heart, lung, and urogenital system. Case report A case showing pulmonary hypoplasia, hip dysplasia, hereditary renal adysplasia, and Mayer-Rokitansky-Kuster-Hauser syndrome in adulthood is reported here. The i.v. pyelography showed right renal agenesis with a normal left kidney and ureter. Ultrasound and Magnetic Resonance Imaging also showed right renal agenesis with multicystic embryonary remnants in the right hemipelvis probably corresponding to a dysgenetic kidney. An uretrocystoscopy showed absence of ectopic ureter and of the right hemitrigone. She was scheduled for a diagnostic laparoscopy and creation of a neovagina according to the McIndoe technique with a prosthesis and skin graft. Laparoscopy confirmed the absence of the uterus. On both sides, an elongated, solid, rudimentary uterine horn could be observed. Both ovaries were also elongated, located high in both abdominal flanks and somewhat dysgenetics. A conventional cytogenetic study revealed a normal female karyotype 46, XX at a level of 550 GTG bands. A CGH analysis was performed using a 244K oligoarray CGH detecting 11 copy number variants described as normal variants in the databases. The 17q12 and 22q11.21 microdeletions described in other MRKH patients were not present in this case. Four years after operation her evolution is normal, without symptoms and the neovagina is adequately functional. The geneticists have studied her family history and the pedigree of the family is shown. Conclusions We suggest that primary damage to the mesoderm (paraaxil, intermediate, and lateral) caused by mutations in a yet unidentified gene is responsible for: 1) skeletal dysplasia, 2) inappropriate interactions between the bronchial mesoderm and endodermal

  2. Hereditary renal adysplasia, pulmonary hypoplasia and Mayer-Rokitansky-Küster-Hauser (MRKH syndrome: a case report

    Directory of Open Access Journals (Sweden)

    Acién Maribel

    2010-04-01

    Full Text Available Abstract Background Hereditary renal adysplasia is an autosomal dominant trait with incomplete penetrance and variable expression that is usually associated with malformative combinations (including Müllerian anomalies affecting different mesodermal organs such as the heart, lung, and urogenital system. Case report A case showing pulmonary hypoplasia, hip dysplasia, hereditary renal adysplasia, and Mayer-Rokitansky-Kuster-Hauser syndrome in adulthood is reported here. The i.v. pyelography showed right renal agenesis with a normal left kidney and ureter. Ultrasound and Magnetic Resonance Imaging also showed right renal agenesis with multicystic embryonary remnants in the right hemipelvis probably corresponding to a dysgenetic kidney. An uretrocystoscopy showed absence of ectopic ureter and of the right hemitrigone. She was scheduled for a diagnostic laparoscopy and creation of a neovagina according to the McIndoe technique with a prosthesis and skin graft. Laparoscopy confirmed the absence of the uterus. On both sides, an elongated, solid, rudimentary uterine horn could be observed. Both ovaries were also elongated, located high in both abdominal flanks and somewhat dysgenetics. A conventional cytogenetic study revealed a normal female karyotype 46, XX at a level of 550 GTG bands. A CGH analysis was performed using a 244K oligoarray CGH detecting 11 copy number variants described as normal variants in the databases. The 17q12 and 22q11.21 microdeletions described in other MRKH patients were not present in this case. Four years after operation her evolution is normal, without symptoms and the neovagina is adequately functional. The geneticists have studied her family history and the pedigree of the family is shown. Conclusions We suggest that primary damage to the mesoderm (paraaxil, intermediate, and lateral caused by mutations in a yet unidentified gene is responsible for: 1 skeletal dysplasia, 2 inappropriate interactions between the bronchial

  3. [Value of troponins in acute coronary syndrome in patients with renal failure].

    Science.gov (United States)

    Galán, Amparo; Curós, Antonio; Corominas, Augusto

    2004-10-23

    Patients with renal insufficiency can have elevations of serum troponin without suspected clinical coronary ischemia. Although cardiovascular disease is the main cause of death in patients with renal failure, the process of elevation of serum troponin is not well known. Troponin T is more frequently elevated than troponin I in these patients which leads to uncertainty in the clinical interpretation of results. There are studies suggesting that troponin elevations are associated with a higher risk and increased mortality. To explain the process leading to troponin increases in this kind of pathology and to confirm its usefulness in the diagnosis, evolution and prognosis it would be necessary to carry out more clinical studies monitoring troponin and studying the stratification of risk.

  4. Renal cancer associated with recurrent spontaneous pneumothorax in Birt-Hogg-Dubé syndrome: a case report and review of the literature

    Directory of Open Access Journals (Sweden)

    Sawicka Elizabeth

    2010-04-01

    Full Text Available Abstract Introduction Birt-Hogg-Dubé syndrome is a rare genodermatosis characterized by hair follicle hamartomas, renal tumors and spontaneous pneumothorax. We present the case of a patient with pulmonary cysts and recurrent spontaneous pneumothorax. She had typical skin lesions, and was found to have a hybrid oncocytoma which was surgically excised. Case presentation A 60-year-old Caucasian woman had a 10-year history of cystic lung disease and recurrent spontaneous pneumothoraces. She was noted to have papular lesions over her face and forehead. The result of a biopsy showed these lesions to be fibrofolliculomas. A diagnosis of Birt-Hogg-Dubé syndrome was made and she was screened for renal tumors since these are a recognized association. A hybrid oncocytoma was detected which was surgically excised by partial nephrectomy. Conclusion It is important to consider a possible diagnosis of Birt-Hogg-Dubé syndrome in cases of recurrent pneumothorax. Affected individuals must be screened for renal tumors, a potentially lethal consequence of this syndrome.

  5. Autopsy report on pseudo-Bartter syndrome with renal calcification induced by diuretics and diet pills

    Science.gov (United States)

    Unuma, Kana; Tojo, Akihiro; Harada, Kazuki; Saka, Kanju; Nakajima, Makoto; Ishii, Takeshi; Fujita, Toshiro; Yoshida, Ken-ichi

    2009-01-01

    A woman in her mid-forties had repeated vomiting and diarrhoea accompanied by muscle weakness soon after she started taking seven different diet pills imported from Thailand. After she had taken the pills for 8 days, respiratory depression progressed rapidly to arrest. Blood tests at the Emergency Department showed severe hypokalaemia with metabolic alkalosis. We diagnosed that she had developed pseudo-Bartter syndrome from the findings based on ionic abnormalities and high renin and aldosterone levels, and hyperplasia of the juxtaglomerular apparatus. A postmortem blood analysis indicated subtherapeutic levels of furosemide. We concluded that the patient died from pseudo-Bartter syndrome, which was triggered by chronic self-administration of furosemide and aggravated by the diet pills. This is the first pseudo-Bartter syndrome autopsy report to show histological localisation of calcification in the kidneys. PMID:21686346

  6. Postmortem diagnosis of "occult" Klinefelter syndrome in a patient with chronic renal disease and liver cirrhosis.

    Science.gov (United States)

    Matsuoka, Kentaro; Orikasa, Hideki; Eyden, Brian; Yamazaki, Kazuto

    2002-03-01

    This report describes a patient not suspected of having Klinefelter syndrome during life but diagnosed with it following postmortem examination using fluorescent in situ hybridization (FISH) for sex chromosomes and hormone serum analysis. A 49-year-old Japanese man had a history of nephrosis, heavy alcohol consumption, diabetes mellitus, and liver cirrhosis and had been undergoing dialysis for 10 years. He died of ruptured esophageal varices. Autopsy revealed hypogonadism, suggesting Klinefelter syndrome. This was confirmed by FISH, which showed a mosaic 46XY, 47XXY karyotype, and by serum analysis, which revealed high luteinizing hormone and follicle-stimulating hormone and low testosterone levels. Autopsy also revealed a nodular, bilateral, testicular Leydig cell hyperplasia. This report illustrates the value of postmortem laboratory investigations, particularly FISH for sex chromosomes and serum hormone analysis, for the demonstration of clinically uncertain or "occult" Klinefelter syndrome.

  7. Genetic investigations of Saethre-Chotzen syndrome presenting with renal cell carcinoma.

    Science.gov (United States)

    Seifert, Georg; Kress, Wolfram; Meisel, Christian; Henze, Günter; Seeger, Karl

    2006-11-01

    Saethre-Chotzen syndrome (SCS) is a craniosynostosis syndrome characterized by facial and limb abnormalities caused by mutations in the TWIST1 gene on 7p21, resulting in variable loss of function. The transcription factor TWIST1 has also been shown to promote tumor growth and has been linked to the formation of metastases in breast cancers. One suggestive case of inherited SCS and malignancy in childhood has been reported previously. Here, we present immunological and genetic investigations including the determination of a new stop codon mutation in the TWIST1 gene in SCS associated with malignancy in childhood.

  8. Long term metabolic syndrome induced by a high fat high fructose diet leads to minimal renal injury in C57BL/6 mice.

    Directory of Open Access Journals (Sweden)

    Romain Dissard

    Full Text Available Metabolic syndrome can induce chronic kidney disease in humans. Genetically engineered mice on a C57BL/6 background are highly used for mechanistic studies. Although it has been shown that metabolic syndrome induces cardiovascular lesions in C57BL/6 mice, in depth renal phenotyping has never been performed. Therefore in this study we characterized renal function and injury in C57BL/6 mice with long-term metabolic syndrome induced by a high fat and fructose diet (HFFD. C57BL/6 mice received an 8 months HFFD diet enriched with fat (45% energy from fat and drinking water enriched with fructose (30%. Body weight, food/water consumption, energy intake, fat/lean mass ratio, plasma glucose, HDL, LDL, triglycerides and cholesterol levels were monitored. At 3, 6 and 8 months, renal function was determined by inulin clearance and measure of albuminuria. At sacrifice, kidneys and liver were collected. Metabolic syndrome in C57BL/6 mice fed a HFFD was observed as early 4 weeks with development of type 2 diabetes at 8 weeks after initiation of diet. However, detailed analysis of kidney structure and function showed only minimal renal injury after 8 months of HFFD. HFFD induced moderate glomerular hyperfiltration (436,4 µL/min vs 289,8 µL/min; p-value=0.0418 together with a 2-fold increase in albuminuria only after 8 months of HFFD. This was accompanied by a 2-fold increase in renal inflammation (p-value=0.0217 but without renal fibrosis or mesangial matrix expansion. In addition, electron microscopy did not show alterations in glomeruli such as basal membrane thickening and foot process effacement. Finally, comparison of the urinary peptidome of these mice with the urinary peptidome from humans with diabetic nephropathy also suggested absence of diabetic nephropathy in this model. This study provides evidence that the HFFD C57BL/6 model is not the optimal model to study the effects of metabolic syndrome on the development of diabetic kidney disease.

  9. Long term metabolic syndrome induced by a high fat high fructose diet leads to minimal renal injury in C57BL/6 mice.

    Science.gov (United States)

    Dissard, Romain; Klein, Julie; Caubet, Cécile; Breuil, Benjamin; Siwy, Justyna; Hoffman, Janosch; Sicard, Laurent; Ducassé, Laure; Rascalou, Simon; Payre, Bruno; Buléon, Marie; Mullen, William; Mischak, Harald; Tack, Ivan; Bascands, Jean-Loup; Buffin-Meyer, Bénédicte; Schanstra, Joost P

    2013-01-01

    Metabolic syndrome can induce chronic kidney disease in humans. Genetically engineered mice on a C57BL/6 background are highly used for mechanistic studies. Although it has been shown that metabolic syndrome induces cardiovascular lesions in C57BL/6 mice, in depth renal phenotyping has never been performed. Therefore in this study we characterized renal function and injury in C57BL/6 mice with long-term metabolic syndrome induced by a high fat and fructose diet (HFFD). C57BL/6 mice received an 8 months HFFD diet enriched with fat (45% energy from fat) and drinking water enriched with fructose (30%). Body weight, food/water consumption, energy intake, fat/lean mass ratio, plasma glucose, HDL, LDL, triglycerides and cholesterol levels were monitored. At 3, 6 and 8 months, renal function was determined by inulin clearance and measure of albuminuria. At sacrifice, kidneys and liver were collected. Metabolic syndrome in C57BL/6 mice fed a HFFD was observed as early 4 weeks with development of type 2 diabetes at 8 weeks after initiation of diet. However, detailed analysis of kidney structure and function showed only minimal renal injury after 8 months of HFFD. HFFD induced moderate glomerular hyperfiltration (436,4 µL/min vs 289,8 µL/min; p-value=0.0418) together with a 2-fold increase in albuminuria only after 8 months of HFFD. This was accompanied by a 2-fold increase in renal inflammation (p-value=0.0217) but without renal fibrosis or mesangial matrix expansion. In addition, electron microscopy did not show alterations in glomeruli such as basal membrane thickening and foot process effacement. Finally, comparison of the urinary peptidome of these mice with the urinary peptidome from humans with diabetic nephropathy also suggested absence of diabetic nephropathy in this model. This study provides evidence that the HFFD C57BL/6 model is not the optimal model to study the effects of metabolic syndrome on the development of diabetic kidney disease.

  10. Diagnostic and surgical challenge: middle ear dermoid cyst in 12 month old with branchio-oto-renal syndrome and multiple middle-ear congenital anomalies.

    Science.gov (United States)

    Johnston, D R; Whittemore, K; Poe, D; Robson, C D; Perez-Atayde, A R

    2011-10-01

    Described is the first case report, to our knowledge, of a middle-ear dermoid in a child with branchio-oto-renal (BOR) syndrome. Radiographic, pathologic, and intraoperative figures are shown. This was a diagnostic and surgical challenge as the presentation was similar to a congenital cholesteatoma and the child had numerous significant temporal bone abnormalities. After the intraoperative findings suggested a non-destructive process, the treatment strategy was altered. This case reiterates the need for a cautious, flexible operative approach in a syndromic child. Included is a relevant review of the literature and a detailed clinical analysis. Copyright © 2011 Elsevier Ireland Ltd. All rights reserved.

  11. Effect of Danshen injection on the vascular endothelial function and renal function in patients with pregnancy induced hypertension syndrome

    Institute of Scientific and Technical Information of China (English)

    Jun-Qing Zhang; Wei Gao

    2016-01-01

    Objective:To explore the effect of Danshen injection on the vascular endothelial function and renal function in patients with pregnancy induced hypertension syndrome (PIH). Methods:A total of 100 patients with PIH who were admitted in our hospital from May, 2015 to May, 2016 were included in the study and randomized into the observation group and the control group. The patients in the control group were given blood pressure reduction, diuresis, spasmolysis, sedation, magnesium sulfate, and comprehensive nursing intervention. On this basis, the patients in the observation group were given additional Danshen injection (20 mL) + 5% glucose (250 mL), ivdrip, 1 time/d. After 10 d treatment, the efficacy was evaluated. The peripheral venous blood before and after treatment in the two groups was collected. The radioimmunoassay was used to detect ET-1. ELISA was used to detect Hcy. The immunoturbidimetry was used to detect vWF. The radioimmunoassay was used to detect BUN, Scr, UA, andβ2-MG. The standard sphygmomanometer was used to monitor the blood pressure and MAP was calculated. The biuret colorimetry was used to determine 24 h Upro. Results:The reduced degree of ET-1, Hcy, and vWF after treatment in the observation group was significantly superior to that in the control group. The reduced degree of BUN, Scr, UA, andβ2-MG after treatment in the observation group was significantly superior to that in the control group. The reduced degree of MPA and 24 h Upro after treatment in the observation group was significantly superior to that in the control group.Conclusions:Routine treatments, comprehensive nursing intervention, and Danshen injection in the treatment of PIH can effectively improve the vascular endothelial function and renal function in order to reduce the blood pressure and alleviate the urine protein.

  12. Insuficiencia renal aguda.

    OpenAIRE

    Carlos Hernán Mejía

    2009-01-01

    Acute renal failure (ARF) is a clinic syndrome characterized by decline in renal function occurring over a short time period. Is a relatively common complication in hospitalized critically ill patients and is associated with high morbidity and mortality. ARF has often a multi-factorial etiology syndrome usually approached diagnostically as pre-renal, post-renal, or intrinsic ARF. Most intrinsic ARF is caused by ischemia or nephrotoxins and is classically associated with acute tubular necrosis...

  13. The association between hantavirus infection and selenium deficiency in mainland China

    NARCIS (Netherlands)

    L.Q. Fang; M. Goeijenbier (Marco); S.-Q. Zuo (Shu-Qing); L-P. Wang (Li-Ping); S. Liang (Song); S.L. Klein (Sabra L.); X.-L. Li (Xin-Lou); K. Liu (Kun); L. Liang (Lu); P. Gong (Peng); G.E. Glass (Gregory E.); E.C.M. van Gorp (Eric); J.H. Richardus (Jan Hendrik); J.-Q. Ma (Jia-Qi); W. Cao (W.); S.J. de Vlas (Sake)

    2015-01-01

    textabstractHemorrhagic fever with renal syndrome (HFRS) caused by hantaviruses and transmitted by rodents is a significant public health problem in China, and occurs more frequently in selenium-deficient regions. To study the role of selenium concentration in HFRS incidence we used a multidisciplin

  14. Collecting duct renal cell carcinoma with the syndrome of inappropriate antidiuresis: An autopsy case report

    Directory of Open Access Journals (Sweden)

    Emi Yasuda

    2013-01-01

    Full Text Available A 57-year-old Japanese man visited our hospital with a moist cough. Chest radiographic imaging showed a left hilar shadow. Adenocarcinoma cells were found on cytologic screening of fresh sputum. Although multiple metastases including brain were detected, no tumor was observed in the kidneys. The patient underwent whole-brain irradiation and chemotherapy for advanced-stage lung cancer. One month before his death, carcinomatous meningitis was detected. Hyponatremia, hypo-osmolality, and hypertonic urine suggested the syndrome of inappropriate antidiuresis. Restricting water intake improved the hyponatremia; however, he developed fever and hematuria. Despite systemic administration of an antibacterial drug, he died. Primary tumor in the lung was absent, but adenocarcinoma of the right kidney was evident on autopsy. Lectin histochemical analysis of the carcinoma revealed its distal nephron origin, confirming collecting duct carcinoma. Severe carcinomatous meningitis, which is possibly caused the syndrome of inappropriate antidiuresis, was observed, with no cancer involvement of the pituitary gland and hypothalamus.

  15. Metabolic syndrome is associated with impaired long-term renal allograft function; not all component criteria contribute equally

    NARCIS (Netherlands)

    de Vries, APJ; Bakker, SJL; van Son, WJ; van der Heide, JJH; Ploeg, RJ; The, HT; de Jong, PE; Gans, ROB

    2004-01-01

    Chronic renal transplant dysfunction (CRTD) remains a leading cause of renal allograft loss. Evidence suggests that immunological and ischemic insults are mainly associated with CRTD occurring within the first year after transplantation, whereas nonimmunological insults are predominantly associated

  16. Acute Renal Replacement Therapy in Children with Diarrhea-Associated Hemolytic Uremic Syndrome: A Single Center 16 Years of Experience

    Directory of Open Access Journals (Sweden)

    Silviu Grisaru

    2011-01-01

    Full Text Available Acute kidney injury (AKI is becoming more prevalent among hospitalized children, its etiologies are shifting, and new treatment modalities are evolving; however, diarrhea-associated hemolytic uremic syndrome (D+HUS remains the most common primary disease causing AKI in young children. Little has been published about acute renal replacement therapy (ARRT and its challenges in this population. We describe our single center's experience managing 134 pediatric patients with D+HUS out of whom 58 (43% required ARRT over the past 16 years. In our cohort, all but one patient were started on peritoneal dialysis (PD. Most patients, 47 (81%, received acute PD on a pediatric inpatient ward. The most common recorded complications in our cohort were peritoneal fluid leaks 13 (22%, peritonitis 11 (20%, and catheter malfunction 5 (9%. Nine patients (16% needed surgical revision of their PD catheters. There were no bleeding events related to PD despite a mean platelets count of 40.9 (±23.5 × 103/mm3 and rare use of platelets infusions. Despite its methodological limitations, this paper adds to the limited body of evidence supporting the use of acute PD as the primary ARRT modality in children with D+HUS.

  17. The link between the renin-angiotensin-aldosterone system and renal injury in obesity and the metabolic syndrome.

    Science.gov (United States)

    Thethi, Tina; Kamiyama, Masumi; Kobori, Hiroyuki

    2012-04-01

    Obesity is a risk factor for type 2 diabetes mellitus (DM) and is associated with chronic kidney disease. Activation of the renin-angiotensin-aldosterone system (RAAS) is common in obesity. The RAAS is an important mediator of hypertension. Mechanisms involved in activation of the RAAS in obesity include sympathetic stimulation, synthesis of adipokines in the RAAS by visceral fat, and hemodynamic alterations. The RAAS is known for its role in regulating blood pressure and fluid and electrolyte homeostasis. The role of local/tissue RAAS in specific tissues has been a focus of research. Urinary angiotensinogen (UAGT) provides a specific index of the intrarenal RAAS. Investigators have demonstrated that sex steroids can modulate the expression and activity of the different components of the intrarenal RAAS and other tissues. Our data suggest that obese women without DM and hypertension have significantly higher levels of UAGT than their male counterparts. These differences existed without any background difference in the ratio of microalbumin to creatinine in the urine or the estimated glomerular filtration rate, raising a question about the importance of baseline gender differences in the endogenous RAAS in the clinical spectrum of cardiovascular diseases and the potential utility of UAGT as a marker of the intrarenal RAAS. Animal studies have demonstrated that modifying the amount of angiotensin, the biologically active component of the RAAS, directly influences body weight and adiposity. This article reviews the role of the RAAS in renal injury seen in obesity and the metabolic syndrome.

  18. Two Japanese Cases of Birt-Hogg-Dubé Syndrome with Pulmonary Cysts, Fibrofolliculomas, and Renal Cell Carcinomas

    Directory of Open Access Journals (Sweden)

    Yukako Murakami

    2014-02-01

    Full Text Available Birt-Hogg-Dubé syndrome (BHD is a rare autosomal dominant inherited disease caused by a germline mutation in the folliculin gene mapped in the region of chromosome 17p11.2. BHD predisposes the patient to cutaneous fibrofolliculomas (FFs, pulmonary cysts (PCs, and renal cell carcinoma (RC. Here, we present two cases of BHD in Japanese patients. One patient was a 37-year-old female, and the other a 35-year-old male. Each of the patients was affected by all three symptoms of BHD. Both patients had unremarkable FFs, asymptomatic PCs, and asymptomatic RC. The presence of RC was revealed by abdominal ultrasonic examination. We also summarized the data from 62 Asian cases of BHD from the available literature and found that their FFs were unremarkable. In addition, the proportion of BHD patients with FF is smaller for Asian patients than it is for Caucasian patients. We also found that it is rare for BHD patients in Asia to show all three symptoms of BHD. Careful inspection of the skin as well as skin biopsies are important for the early detection of BHD cases in Asia.

  19. Case Report of Birt-Hogg-Dubé Syndrome: Germline Mutations of FLCN Detected in Patients With Renal Cancer and Thyroid Cancer.

    Science.gov (United States)

    Dong, Li; Gao, Ming; Hao, Wei-Jing; Zheng, Xiang-Qian; Li, Yi-Gong; Li, Xiao-Long; Yu, Yang

    2016-05-01

    Birt-Hogg-Dubé (BHD) is a rare autosomal dominant inherited syndrome that is characterized by the presence of fibrofolliculomas and/or trichodiscomas, pulmonary cysts, spontaneous pneumothorax, and renal tumors. Here, the 2 patients we reported with renal cell carcinomas and dermatological features were suspected to be suffering from BHD syndrome. Blood samples of these patients were sent for whole exon sequencing performed by Sanger sequencing. Eight mutations, including 5 mutations, which were mapped in noncoding region, 1 synonymous mutation, and 2 missense mutations, were detected in the FLCN gene in both patients. The 2 missense mutations, predicted to be disease-causing mutation or affecting protein function by MutationTaster and SIFT, confirmed the diagnosis. In addition, the 2 patients were also affected with papillary thyroid cancer. Total thyroidectomy and prophylactic bilateral central lymph node dissection were performed for them and the BHD-2 also received lateral lymph node dissection. Pathology reports showed that the patients had lymph node metastasis in spite of small size of thyroid lesions.The 2 missense mutations, not reported previously, expand the mutation spectrum of FLCN gene associated with BHD syndrome. For the thyroid cancer patients with BHD syndrome, total thyroidectomy and prophylactic bilateral central lymph node dissection may be suitable and the neck ultrasound may benefit BHD patients and their family members.

  20. Trombose da artéria renal e síndrome do anticorpo antifosfolípide: um relato de caso Renal arterial thrombosis and the antiphospholipid antibody syndrome: a case report

    Directory of Open Access Journals (Sweden)

    Célia S. Macedo

    2001-12-01

    Full Text Available OBJETIVO: descrever um caso clínico raro na infância, com achados clínicos da síndrome do anticorpo antifosfolípide. DESCRIÇÃO: criança, sexo masculino, com 2 anos e 6 meses de idade, com insuficiência renal, trombose da artéria renal e diagnóstico de síndrome do anticorpo antifosfolípide, foi internada com dor abdominal, palidez, letargia e anúria há 36 horas. Ao exame físico, apresentava-se desnutrida, com hipertensão arterial severa, edema moderado e dor em hipocôndrio. Os achados laboratoriais incluíram: uréia=112mg/dl; creatinina plasmática=4,5 mg/dl; pH sangüíneo=7,47; bicarbonato sangüíneo=12,8 mmol/L; K=7,2 mEq/L. A diálise peritoneal foi iniciada e mantida por 11 dias. Após 7 semanas de evolução, o paciente ainda necessitava de droga anti-hipertensiva e a função renal estava anormal. A biópsia renal revelou infarto renal anêmico; ultra-sonografia renal com doppler, fluxo sangüíneo renal ausente no lado direito, e a arteriografia mostrou oclusão total da artéria renal direita. A pesquisa de doenças do colágeno foi negativa. Foi realizada nefrectomia à direita obtendo-se normalização da pressão arterial. Aos 5 anos e 8 meses, foi novamente hospitalizada com quadro de crises de ausência e dores abdominais e precordiais. A dosagem do anticorpo anticardiolipina foi positiva. Atualmente aos 7 anos, está em seguimento ambulatorial, assintomática e com dosagens negativas do anticorpo anticardiolipina. COMENTÁRIOS: as observações deste caso mostram que crianças com quadro de trombose arterial, mesmo na ausência de doenças do colágeno, devem ser investigadas para uma possível associação com a síndrome do anticorpo antifosfolípide.OBJECTIVE: to describe an unusual case with clinical features of the antiphospholipid syndrome. DESCRIPTION: white child, two years and six months old, with renal failure, renal arterial thrombosis, and diagnosis of antiphospholipid syndrome was hospitalized with

  1. An unusual case of pulmonary-renal syndrome associated with defects in type IV collagen composition and anti-glomerular basement membrane autoantibodies.

    Science.gov (United States)

    Charytan, David; MacDonald, Brian; Sugimoto, Hikaru; Pastan, Stephen; Staton, Gerald; Hennigar, Randy; Kalluri, Raghu

    2005-04-01

    Commercial serological assays for the presence of anti-glomerular basement membrane (GBM) antibodies are thought to be indicative of Goodpasture's syndrome. We report a case in which commercial tests inaccurately suggested that a patient with a pulmonary-renal syndrome had Goodpasture's disease. Additional laboratory testing using recombinant type IV collagen NC1 domain proteins showed that the autoantibodies in question were not directed against the Goodpasture antigen (the alpha3NC1 domain), but against the alpha2NC1 domain of type IV collagen. Our findings represent the first known case of human autoantibodies to the alpha2NC1 domain. Further investigation showed that this patient has decreased alpha3 and alpha5 chain expression in the GBM and defects in type IV collagen, resembling abnormalities in patients with Alport's syndrome.

  2. Renal vein thrombosis

    Science.gov (United States)

    ... Saunders; 2012:chap 34. Read More Acute kidney failure Arteriogram Blood clots Dehydration Nephrotic syndrome Pulmonary embolus Renal Tumor Review Date 5/19/2015 Updated by: Charles Silberberg, ...

  3. Hepatic Glucocorticoid Receptor Plays a Greater Role Than Adipose GR in Metabolic Syndrome Despite Renal Compensation.

    Science.gov (United States)

    Bose, Sandip K; Hutson, Irina; Harris, Charles A

    2016-12-01

    Exogenous glucocorticoid administration results in hyperglycemia, insulin resistance, hepatic dyslipidemia, and hypertension, a constellation of findings known as Cushing's syndrome. These effects are mediated by the glucocorticoid receptor (GR). Because GR activation in liver and adipose has been implicated in metabolic syndrome (MS), we wanted to determine the role of GR in these tissues in the development of MS. Because GR knockout (KO) mice (whole-body KO) exhibit perinatal lethality due to respiratory failure, we generated tissue-specific (liver or adipose) GRKO mice using cre-lox technology. Real-time PCR analysis of liver mRNA from dexamethasone-treated wildtype (WT) and liver GRKO mice indicated that hepatic GR regulates the expression of key genes involved in gluconeogenesis and glycogen metabolism. Interestingly, we have observed that liver-specific deletion of GR resulted in a significant increase in mRNA expression of key genes involved in gluconeogenesis and glycogen metabolism in kidney tissue, indicating a compensatory mechanism to maintain glucose homeostasis. We have also observed that GR plays an important role in regulating the mRNA expression of key genes involved in lipid metabolism. Liver GRKO mice demonstrated decreased fat mass and liver glycogen content compared with WT mice administered dexamethasone for 2 weeks. Adipose-specific deletion of GR did not alter glucose tolerance or insulin sensitivity of adipose GRKO mice compared with WT mice administrated dexamethasone. This indicates that liver GR might be more important in development of MS in dexamethasone-treated mice, whereas adipose GR plays a little role in these paradigms.

  4. Branchio-Oto-Renal Syndrome (BOR) associated with focal glomerulosclerosis in a patient with a novel EYA1 splice site mutation.

    Science.gov (United States)

    Gigante, Maddalena; d'Altilia, Marilena; Montemurno, Eustacchio; Diella, Sterpeta; Bruno, Francesca; Netti, Giuseppe S; Ranieri, Elena; Stallone, Giovanni; Infante, Barbara; Grandaliano, Giuseppe; Gesualdo, Loreto

    2013-03-18

    Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder characterized by branchial, ear, and renal anomalies. The most common gene mutated in BOR patients is EYA1, the human homolog of the Drosophila eyes absent gene, while mutations in SIX1 gene, the human homolog of sine oculis, encoding a DNA binding protein interacting with EYA1, have been reported less frequently. Recently, mutations in another SIX family member, SIX5, have been described in BOR patients, however, this association has not been confirmed by other groups. In this study, we have clinically and genetically characterized a proband that displayed hearing loss, pre-auricular pits, branchial fistulae, hypoplasia of the left kidney, bilateral mild hydronephrosis, progressive proteinuria and focal glomerulosclerosis. Mutational analysis of EYA1 gene revealed a novel splice site mutation, c.1475 + 1G > C, that affects EYA1 splicing and produces an aberrant mRNA transcript, lacking exon 15, which is predicted to encode a truncated protein of 456 aa. This report provided the functional description of a novel EYA1 splice site mutation and described for the first time a case of BOR syndrome associated with the atypical renal finding of focal glomerulosclerosis, highlighting the importance of molecular testing and detailed clinical evaluation to provide accurate diagnosis and appropriate genetic counselling.

  5. Omega-3 fatty acids protect renal functions by increasing docosahexaenoic acid-derived metabolite levels in SHR.Cg-Lepr(cp)/NDmcr rats, a metabolic syndrome model.

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    Katakura, Masanori; Hashimoto, Michio; Inoue, Takayuki; Al Mamun, Abdullah; Tanabe, Yoko; Iwamoto, Ryo; Arita, Makoto; Tsuchikura, Satoru; Shido, Osamu

    2014-03-17

    The omega-3 polyunsaturated fatty acids (ω-3 PUFAs) docosahexaenoic acid (DHA) and/or eicosapentaenoic acid (EPA) protect against diabetic nephropathy by inhibiting inflammation. The aim of this study was to assess the effects of highly purified DHA and EPA or EPA only administration on renal function and renal eicosanoid and docosanoid levels in an animal model of metabolic syndrome, SHR.Cg-Lepr(cp)/NDmcr (SHRcp) rats. Male SHRcp rats were divided into 3 groups. Control (5% arabic gum), TAK-085 (300 mg/kg/day, containing 467 mg/g EPA and 365 mg/g DHA), or EPA (300 mg/kg/day) was orally administered for 20 weeks. The urinary albumin to creatinine ratio in the TAK-085-administered group was significantly lower than that in other groups. The glomerular sclerosis score in the TAK-085-administered group was significantly lower than that in the other groups. Although DHA levels were increased in total kidney fatty acids, the levels of nonesterified DHA were not significantly different among the 3 groups, whereas the levels of protectin D1, resolvin D1, and resolvin D2 were significantly increased in the TAK-085-administered group. The results show that the use of combination therapy with DHA and EPA in SHRcp rats improved or prevented renal failure associate with metabolic syndrome with decreasing triglyceride levels and increasing ω-3 PUFA lipid mediators.

  6. Omega-3 Fatty Acids Protect Renal Functions by Increasing Docosahexaenoic Acid-Derived Metabolite Levels in SHR.Cg-Leprcp/NDmcr Rats, a Metabolic Syndrome Model

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    Masanori Katakura

    2014-03-01

    Full Text Available The omega-3 polyunsaturated fatty acids (ω-3 PUFAs docosahexaenoic acid (DHA and/or eicosapentaenoic acid (EPA protect against diabetic nephropathy by inhibiting inflammation. The aim of this study was to assess the effects of highly purified DHA and EPA or EPA only administration on renal function and renal eicosanoid and docosanoid levels in an animal model of metabolic syndrome, SHR.Cg-Leprcp/NDmcr (SHRcp rats. Male SHRcp rats were divided into 3 groups. Control (5% arabic gum, TAK-085 (300 mg/kg/day, containing 467 mg/g EPA and 365 mg/g DHA, or EPA (300 mg/kg/day was orally administered for 20 weeks. The urinary albumin to creatinine ratio in the TAK-085-administered group was significantly lower than that in other groups. The glomerular sclerosis score in the TAK-085-administered group was significantly lower than that in the other groups. Although DHA levels were increased in total kidney fatty acids, the levels of nonesterified DHA were not significantly different among the 3 groups, whereas the levels of protectin D1, resolvin D1, and resolvin D2 were significantly increased in the TAK-085-administered group. The results show that the use of combination therapy with DHA and EPA in SHRcp rats improved or prevented renal failure associate with metabolic syndrome with decreasing triglyceride levels and increasing ω-3 PUFA lipid mediators.

  7. Severe Uncompensated Metabolic Alkalosis due to Plasma Exchange in a Patient with Pulmonary-Renal Syndrome: A Clinician’s Challenge

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    Mohsin Ijaz

    2015-01-01

    Full Text Available Metabolic alkalosis secondary to citrate toxicity from plasma exchange is very uncommon in patients with normal renal function. In patients with advanced renal disease this can be a fatal event. We describe a case of middle-aged woman with Goodpasture’s syndrome treated with plasma exchange who developed severe metabolic alkalosis. High citrate load in plasma exchange fluid is the underlying etiology. Citrate metabolism generates bicarbonate and once its level exceeds the excretory capacity of kidneys, the severe metabolic alkalosis ensues. Our patient presented with generalized weakness, fever, and oliguria and developed rapidly progressive renal failure. Patient had positive serology for antineutrophilic cytoplasmic antibodies myeloperoxidase (ANCA-MPO and anti-glomerular basement membrane antibodies (anti-GBM. Renal biopsy showed diffuse necrotizing and crescentic glomerulonephritis with linear glomerular basement membrane staining. Patient did not respond to intravenous steroids. Plasma exchange was started with fresh frozen plasma but patient developed severe metabolic alkalosis. This metabolic alkalosis normalized with cessation of plasma exchange and initiation of low bicarbonate hemodialysis. ANCA-MPO and anti-GBM antibodies levels normalized within 2 weeks and remained undetectable at 3 months. Patient still required maintenance hemodialysis.

  8. Post-procedural hemodiafiltration in acute coronary syndrome patients with associated renal and cardiac dysfunction undergoing urgent and emergency coronary angiography.

    Science.gov (United States)

    Marenzi, Giancarlo; Mazzotta, Gianfranco; Londrino, Francesco; Gistri, Roberto; Moltrasio, Marco; Cabiati, Angelo; Assanelli, Emilio; Veglia, Fabrizio; Rombolà, Giuseppe

    2015-02-15

    We investigated the use of a 3-hr treatment with hemodiafiltration, initiated soon after emergency or urgent coronary angiography in acute coronary syndrome (ACS) patients with associated severe renal and cardiac dysfunction. Patients with ACS and severe combined renal and cardiac dysfunction have a particularly high mortality risk. In them, the ideal strategy to both optimize treatment of coronary disease and minimize renal injury risk is currently unknown. This was an interventional study. ACS patients (STEMI and NSTEMI) with associated severe renal (eGFR ≤30 ml/min/1.73 m(2) ) and cardiac (LVEF ≤40%) dysfunction, admitted at La Spezia Hospital emergency coronary procedure. Controls were patients matched for age, gender, Mehran's risk score, and kind of ACS, admitted at the Centro Cardiologico Monzino Milan. In-hospital and 1-year outcomes were evaluated. Sixty patients (30% STEMI), 30 hemodiafiltration-treated patients and 30 controls, with similar baseline characteristics, were included. In-hospital and cumulative 1-year mortality rates were significantly lower in hemodiafiltration-treated patients than in controls (3% vs. 23%; P = 0.05, and 10% vs. 53%; P emergency coronary angiography seems to be associated with a relevant improvement in survival. © 2014 Wiley Periodicals, Inc.

  9. Renal manifestations in hypocomplementic urticarial vasculitis syndrome: Is it a distinct pathology?

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    Badriya AlHermi

    2017-01-01

    Full Text Available Hypocomplementic urticarial vasculitis syndrome (HUVS is an autoimmune disease characterized by recurrent urticaria, arthritis, and glomerulonephritis (GN. Anti-C1q antibody is the marker of HUVS together with low levels of classical pathway complements which are C2, C3, C4, and C1q. We report a case of a 6-year-old boy who presented with episodes of rashes, injected conjunctiva, abdominal pain, and arthritis, diagnosed as HUVS. He had low C3, low CH50, normal C4, and positive C1q antibody. His urinalysis showed intermittent microscopic hematuria only. One year later, his laboratories showed persistent low C3 and positive Anti-ds DNA. The urinalysis showed hematuria, pyuria, and nephrotic-range proteinuria. Urine protein to creatinine ratio was 101.8 h mg/mmol. Kidney biopsy showed mesangioproliferative GN consistent with the diagnosis of HUVS. The patient was treated initially with prednisolone then azathioprine was added to the regimen. He showed good response with the disappearance of hematuria and proteinuria. Nine months later, he had no skin rashes with normal urinalysis and normal anti-ds DNA antibody. We report a case with HUVS and GN with positive anti-dsDNA antibody that revealed good response to combination of immunosuppressive therapy.

  10. Anti-hLAMP2-antibodies and dual positivity for anti-GBM and MPO-ANCA in a patient with relapsing pulmonary-renal syndrome

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    Kistler Thomas

    2011-06-01

    Full Text Available Abstract Background Pulmonary-renal syndrome associated with anti-glomerular basement membrane (GBM antibodies, also known as Goodpasture's syndrome, is a rare but acute and life-threatening condition. One third of patients presenting as anti-GBM antibody positive pulmonary-renal syndrome or rapidly progressive glomerulonephritis are also tested positive for anti-neutrophil cytoplasmic antibodies (ANCA. Whilst anti-GBM disease is considered a non-relapsing condition, the long-term course of double-positive patients is less predictable. Case Presentation We report a patient with such dual positivity, who presented with pulmonary hemorrhage, crescentic glomerulonephritis and membranous nephropathy. Plasmapheresis in combination with immunosuppresive therapy led to a rapid remission but the disease relapsed after two years. The serum of the patient was tested positive for antibodies to human lysosomal membrane protein 2 (hLAMP2, a novel autoantigen in patients with active small-vessel vasculitis (SVV. The anti-hLAMP2 antibody levels correlated positively with clinical disease activity in this patient. Conclusion We hypothesize that this antibody may indicate a clinical course similar to ANCA-associated vasculitis in double-positive patients. However, this needs to be confirmed on comprehensive patient cohorts.

  11. Genotypes of isolated strains of Hantaviruses from reservoir animals captured in natural epidemic areas of hemorrhagic fever with renal syndrome in Shenzhen%深圳市肾综合征出血热疫源地宿主动物汉坦病毒分离株的基因分型

    Institute of Scientific and Technical Information of China (English)

    阳帆; 刘建军; 何建凡; 杨洪; 张顺祥; 张海龙; 冼慧霞

    2008-01-01

    Objective To isolate Hantaviruses from reservoir animals captured in natural epidemic areas of hemorrhagic fever with renal syndrome(HFRS)and genotype isolated strains of Hantavirus in Shenzhen.Methods Infant Meriones unguiculatus and Vero-E6 cells were used in virus isolation and direct immunofluorescence assay was used for identifying viruses.The G1,G2 fragments of M segment and S segment were amplified with reverse transcription-nested-polymerase chain reaction(RT-nested-PCR)by using the Hantavirus genotype specific primers.The amplified genes were then sequenced,and subjected to homology and cladogram analysis.Results Two virus strains were isolated successfully and designated as SZ2082 and SZ2083 from Rattus norvegicus captured in Shenzhen and were identified as SEOV type by RT-nested-PCR.The nucleotide sequences of partial M and S segmentS of SZ2082 were consistent with SZ2083 completely.Compared with the G1 and G2 fragments of M gene of SEOV80-39 virus strain,the homologies of nucleotide among them were 96.7% and 95.0%,but the homology were 75.9% and 70.3% of the Hantaviruses strain with HTNV76-118 virus strain,respectively.The homology of S gene with SEOV80-39 and HTNV76-118 showed 95.7% and 69.7% at nucleotide level.The results were similar to that of M genome segment.SZ2082 and BjFT01,Beijing Rn,Guangl99,HN71-L were on the same branch and their homology reached up to 99.0%-99.7%.Conclusions Hantaviruses are isolated from Shenzhen for the first time and are classified as S2 subtype of Seoul virus.%目的 对深圳市肾综合征出血热(HFRS)疫源地进行宿主动物汉坦病毒分离,研究分离株的基因分型.方法 采用幼龄长爪沙鼠接种和Vero-E6细胞培养的方法进行汉坦病毒分离,用直接免疫荧光实验进行鉴定.应用型特异性引物进行反转录一套式PCR分别扩增M片段G1、G2区、S片段,并测定核苷酸序列,进行同源性比对和进化树分析.结果 从深圳市褐家鼠肺中成功分离到2

  12. NKCC2 activity is inhibited by the Bartter's syndrome type 5 gain-of-function CaR-A843E mutant in renal cells.

    Science.gov (United States)

    Carmosino, Monica; Gerbino, Andrea; Hendy, Geoffrey N; Torretta, Silvia; Rizzo, Federica; Debellis, Lucantonio; Procino, Giuseppe; Svelto, Maria

    2015-04-01

    The gain-of-function A843E mutation of the calcium sensing receptor (CaR) causes Bartter syndrome type 5. Patients carrying this CaR variant show a remarkably reduced renal NaCl reabsorption in the thick ascending limb (TAL) of Henle's loop resulting in renal loss of NaCl in the absence of mutations in renal Na(+) and Cl(-) ion transporters. The molecular mechanisms underlying this clinical phenotype are incompletely understood. We investigated, in human embryonic kidney 293 (HEK 293) cells and porcine kidney epithelial (LLC-PK1) cells, the functional cross-talk of CaR-A843E with the Na(+):K(+):2Cl(-) co-transporter, NKCC2, which provides NaCl reabsorption in the TAL. The expression of the CaR mutant did not alter the apical localisation of NKCC2 in LLC-PK1 cells. However, the steady-state NKCC2 phosphorylation and activity were decreased in cells transfected with CaR-A843E compared with the control wild-type CaR (CaR WT)-transfected cells. Of note, low-Cl(-)-dependent NKCC2 activation was also strongly inhibited upon the expression of CaR-A843E mutant. The use of either P450 ω-hydroxylase (CYP4)- or phospholipase A2 (PLA2)-blockers suggests that this effect is likely mediated by arachidonic acid (AA) metabolites. The data suggested that the activated CaR affects intracellular pathways modulating NKCC2 activity rather than NKCC2 intracellular trafficking in renal cells, and throw further light on the pathological role played by active CaR mutants in Bartter syndrome type 5. © 2015 Société Française des Microscopies and Société de Biologie Cellulaire de France. Published by John Wiley & Sons Ltd.

  13. Group I nonreciprocal inhibition in restless legs syndrome secondary to chronic renal failure.

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    Marconi, Sara; Scaglione, Cesa; Pizza, Fabio; Rizzo, Giovanni; Plazzi, Giuseppe; Vetrugno, Roberto; La Manna, Gaetano; Campieri, Claudio; Stefoni, Sergio; Montagna, Pasquale; Martinelli, Paolo

    2012-05-01

    Neurophysiological investigations disclosed spinal cord hyperexcitability in primary restless legs syndrome (p-RLS). Uremic RLS (u-RLS) is the most common secondary form, but its pathophysiological mechanisms remain unsettled. Aim of this study was to explore spinal cord excitability by evaluating group I nonreciprocal (Ib) inhibition in u-RLS patients in comparison with p-RLS patients and healthy subjects. Eleven u-RLS patients undergoing long-term hemodialysis treatment, nine p-RLS patients and ten healthy subjects were studied. Soleus H reflex latency (HR-L), H(max)/M(max) ratio, and Ib inhibition were evaluated. Ib inhibition was tested measuring the amplitude changes in soleus H reflex following stimulation of the synergist gastrocnemius medialis (GM) nerve at rest. Nerve conduction studies were performed in the uremic patients. The H(max)/M(max) ratio did not differ in the three groups. The u-RLS patients showed a normal Ib inhibition comparable with the healthy group, whereas the p-RLS group had evidence of a reduced active inhibition compared with both u-RLS patients (P = 0.04) and controls (P = 0.007), prominently at 5 ms (P = 0.007) and at 6 ms (P = 0.02) of conditioning-test interval. Neurophysiological examination disclosed abnormalities ranging from higher HR-L to clear-cut polyneuropathy in most u-RLS patients. Unlike p-RLS patients, u-RLS patients had normal Ib inhibition, suggesting a regular supraspinal control of Ib spinal interneurons. Subclinical peripheral nerve abnormalities were detected in most uremic patients. Peripherally disrupted sensory modulation may represent the major pathophysiological determinant of uremic RLS. Copyright © 2011 Elsevier Ltd. All rights reserved.

  14. Impact of Gentamicin Coadministration along with High Fructose Feeding on Progression of Renal Failure and Metabolic Syndrome in Sprague-Dawley Rats

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    Zaid O. Ibraheem

    2014-01-01

    Full Text Available The current study evaluates the impact of high fructose feeding in rat model of gentamicin induced nephrotoxicity. Sprague-Dawley rats weighing 180–200 g were randomized into four groups; (C received standard rodents chow with free access to ad libitum drinking water for 8 weeks and was considered as control, (F received standard rodents chow with free access to drinking water supplemented with 20% (W/V fructose for the same abovementioned period, (FG was fed as group F and was given 80 mg/kg (body weight/day gentamicin sulphate intraperitoneally during the last 20 days of the feeding period, and (G was given gentamicin as above and fed as group C. Renal function was assessed at the end of the treatment period through measuring serum creatinine, uric acid and albumin, creatinine clearance, absolute and fractional excretion of both sodium and potassium, twenty-four-hour urinary excretion of albumin, and renal histology. For metabolic syndrome assessment, fasting plasma glucose and insulin were measured and oral glucose tolerance test was performed throughout the treatment period. Results showed that gentamicin enhances progression of fructose induced metabolic syndrome. On the other hand, fructose pretreatment before gentamicin injection produced a comparable degree of renal dysfunction to those which were given fructose-free water but the picture of nephrotoxicity was somewhat altered as it was characterized by higher extent of glomerular congestion and protein urea. Overall, more vigilance is required when nephrotoxic drugs are prescribed for patients with fructose induced metabolic syndrome.

  15. 慢性肾脏病与“肠肾综合征”%Intestinal-renal syndrome and chronic kidney disease

    Institute of Scientific and Technical Information of China (English)

    王斐倩

    2012-01-01

    尿毒症患者血液透析时肠道一过性缺血导致肠道通透性增高、肠道茵群移位,从而诱发体内多种病理改变,在2011年国际透析大会上,Ritz首次提出“肠肾综合征”的概念,但未给出其明确定义.本文通过综述肠肾间相互影响及经肠道途径治疗肾脏疾病,阐述了“肠肾综合征”的合理性,并确立“肠肾综合征”的概念——肠道和肾脏中一个器官发生改变时对另一个器官产生不利影响,并能互为因果引起和(或)相互加重.希单通过引入“肠肾综合征”,重新审视肠道和肾脏疾病的关联性,以肠道为靶点,提高慢性肾脏病的诊疗效果.%The term of ' intestinal-renal syndrome' was proposed by Ritz in 13th International Conference on Dialysis, Advances in CKD 2011. However, Ritz didn't give a definition of ' intestinal -renal syndrome' and he was uncertain about its reality. To characterize the ' intestinal-renal syndrome' ,this paper summarized the relationship between gut and kidney in norma) and disease status,and briefly reviewed what is currently known about its treatment options.

  16. Spontaneous Retroperitoneal Hemorrhage (Wunderlich Syndrome due to Large Upper Pole Renal Angiomyolipoma: Does Robotic-Assisted Laparoscopic Partial Nephrectomy Have a Role in Primary Treatment?

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    Achilles Ploumidis

    2013-01-01

    Full Text Available Spontaneous rapture with consequent retroperitoneal hemorrhage (Wunderlich’s syndrome is the complication mostly feared from large renal angiomyolipomas (RAMLs. In hemodynamic stable patients, minimal invasive therapies have superseded open surgery as the mainstay of treatment, with contemporary cases mostly treated by selective arterial embolization. Robotic-assisted laparoscopic partial nephrectomy (RALPN is an established minimal access treatment that has been used in the past for benign and malignant lesions of the kidney in the elective setting, but rarely in urgent situations as primary treatment. We present a case of a ruptured RAML in a young female treated effectively by RALPN.

  17. Meier–Gorlin syndrome: An additional Egyptian patient with gastroesophageal reflux, hydronephrosis, renal stones and hypoplastic labia majora and minora with clitromegaly

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    Rabah M. Shawky

    2016-10-01

    Full Text Available We report a 4.5 year old female child with the classical triad of Meier–Gorlin syndrome (microtia, absent patella and short stature with normal mentality. She had small triangular face, long peaked nose, high nasal bridge, bilateral low set very small ears (microtia, retromicrognathia, high arched palate, maxillary hypoplasia, decayed teeth, and bilateral partial syndactyly between 2nd and 3rd toes. Our patient had a gastroesophageal reflux, renal stones, hydronephrosis and hypoplastic labia majora and minora with clitromegaly.

  18. Fras1, a basement membrane-associated protein mutated in Fraser syndrome, mediates both the initiation of the mammalian kidney and the integrity of renal glomeruli

    OpenAIRE

    Pitera JE, Scambler PJ, Woolf AS.

    2008-01-01

    FRAS1 is mutated in some individuals with Fraser syndrome (FS) and the encoded protein is expressed in embryonic epidermal cells, localizing in their basement membrane (BM). Syndactyly and cryptophthalmos in FS are sequelae of skin fragility but the bases for associated kidney malformations are unclear. We demonstrate that Fras1 is expressed in the branching ureteric bud (UB), and that renal agenesis occurs in homozygous Fras1 null mutant blebbed (bl) mice on a C57BL6J background. In vivo, th...

  19. Recurrent 8q13.2-13.3 microdeletions associated with branchio-oto-renal syndrome are mediated by human endogenous retroviral (HERV) sequence blocks.

    Science.gov (United States)

    Chen, Xiaoli; Wang, Jun; Mitchell, Elyse; Guo, Jin; Wang, Liwen; Zhang, Yu; Hodge, Jennelle C; Shen, Yiping

    2014-08-19

    Human endogenous retroviral (HERV) sequences are the remnants of ancient retroviral infection and comprise approximately 8% of the human genome. The high abundance and interspersed nature of homologous HERV sequences make them ideal substrates for genomic rearrangements. A role for HERV sequences in mediating human disease-associated rearrangement has been reported but is likely currently underappreciated. In the present study, two independent de novo 8q13.2-13.3 microdeletion events were identified in patients with clinical features of Branchio-Oto-Renal (BOR) syndrome. Nucleotide-level mapping demonstrated the identical breakpoints, suggesting a recurrent microdeletion including multiple genes such as EYA1, SULF1, and SLCO5A1, which is mediated by HERV1 homologous sequences. These findings raise the potential that HERV sequences may more commonly underlie recombination of dosage sensitive regions associated with recurrent syndromes.

  20. Delineation of the phenotype associated with 7q36.1q36.2 deletion: long QT syndrome, renal hypoplasia and mental retardation.

    Science.gov (United States)

    Caselli, Rossella; Mencarelli, Maria Antonietta; Papa, Filomena Tiziana; Ariani, Francesca; Longo, Ilaria; Meloni, Ilaria; Vonella, Giuseppina; Acampa, Maurizio; Auteri, Alberto; Vicari, Stefano; Orsi, Alessandra; Hayek, Giuseppe; Renieri, Alessandra; Mari, Francesca

    2008-05-01

    Terminal deletions of the long arm of chromosome 7 are well known and are frequently associated with hypotelorism or holoprosencephaly due to the involvement of the SHH gene located in 7q36.3. These deletions are easily detectable with routine subtelomeric MLPA analysis. Deletions affecting a more proximal part of 7q36, namely bands 7q36.1q36.2 are less common, and may be missed by subtelomeric MLPA analysis. We report a 9-year-old girl with a 5.27 Mb deletion in 7q36.1q36.2, and compare her to literature patients proposing a phenotype characterized by mental retardation, unusual facial features, renal hypoplasia and long QT syndrome due to loss of the KCNH2 gene. These characteristics are sufficiently distinct that the syndrome may be diagnosed on clinical grounds.

  1. Epidemiology, impact, and treatment options of restless legs syndrome in end-stage renal disease patients: an evidence-based review.

    Science.gov (United States)

    Giannaki, Christoforos D; Hadjigeorgiou, Georgios M; Karatzaferi, Christina; Pantzaris, Marios C; Stefanidis, Ioannis; Sakkas, Giorgos K

    2014-06-01

    Restless legs syndrome (RLS) (or Willis-Ekbom disease) is a neurological disorder with high prevalence among the end-stage renal disease population. This is one of the most predominant types of secondary RLS, and it is called uremic RLS. Despite the fact that uremic RLS has been less studied compared to idiopathic RLS, recent studies now shed light in many aspects of the syndrome including clinical characteristics, impact, epidemiology, and treatment options. The current review discusses the above topics with special emphasis given on the management of uremic RLS, including the management of symptoms that often appear during a hemodialysis session. Uremic RLS symptoms may be ameliorated by using pharmacological and nonpharmacological treatments. Evidence so far shows that both approaches may be effective in terms of reducing the RLS symptom's severity; nevertheless, more research is needed on the efficiency of treatments for uremic RLS.

  2. EFFECT IMBALANCE AQUEOUS BODY FLUIDS, AND RENAL DYSFUNCTION, CARDIOVASCULAR SURVIVAL IN PATIENTS AFTER AN ACUTE CORONARY SYNDROME, MYOCARDIAL REVASCULARIZATION

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    E. S. Levitskaya

    2017-01-01

    Full Text Available Objective. Analysis imbalance aqueous body fluids on the prognosis of cardiovascular events in the late period after an acute coronary syndrome (ACS and myocardial revascularization based on indicators of renal function.Materials and methods. The study included 120 patients with ACS, including unstable angina was diagnosed in 68 patients, 52 patients — acute myocardial infarction. All patients underwent myocardial revascularization. To register the presence of albuminuria in the range of 30-300 mg/l, and glomerular filtration rate (GFR. It makes calculations indicators aqueous body fluids — the total volume of water (TVW, the total fluid, intracellular fluid (IF, extracellular fluid. The endpoint of the study was the presence of cardiovascular complications within 6 months after ACS.Results. It is found that the presence and magnitude of albuminuria was significantly increase the risk of the end point of the study. In patients with GFR less than 60 mL/min/1,73m2 studied the risk is higher by 17.1%, compared with patients with a GFR above this limit. Analysis of the distribution of the water body fluids showed a significant increase in the average TVW and IF. Through statistical analysis of survival found an increased risk of cardiovascular complications in the late period after ACS in patients who have an increase IF on the stage of development of coronary catastrophe.Conclusion. The study demonstrated the predictive value to stratify cardiovascular disease risk, not only the presence of albuminuria, but its level and value of GFR less than 60 mL/min/1,73m2. Redistribution of aqueous body fluids in the form of increased IF is a marker of adverse cardiovascular events in the late period after ACS. These data indicate the need for a comprehensive and integrated analysis of existing pathogenetic changes occurring in ACS, as well as the status of the patients premorbid factor for improving risk stratification of cardiovascular

  3. Recurrent Posterior Reversible Encephalopathy Syndrome Potentially Related to AIDS and End-Stage Renal Disease: A Case Report and Review of the Literature

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    Olivia Hui-Chiun Chang

    2012-01-01

    Full Text Available Posterior reversible encephalopathy syndrome (PRES is a clinicoradiological syndrome that is characterized by clinical features including headache, altered mental status, cortical blindness, seizures, and other focal neurological signs as well as subcortical edema without infarction on neuroimaging. Under the umbrella of hypertensive encephalopathy, PRES is defined by reversible cerebral edema due to dysfunction of the cerebrovascular blood-brain barrier unit. The pathophysiology of PRES is thought to result from abnormalities in the transmembrane flow of intravascular fluid and proteins caused by two phenomena: one, cerebral autoregulatory failure and two, loss of integrity of the blood-brain barrier. PRES is not a common disease in patients with human immunodeficiency virus (HIV and AIDS with only three previously reported cases. Both the HIV and end-stage renal disease appear to further compromise the blood brain barrier. Although uncommon, PRES recurrence has been described. To the best of our knowledge, this is the first report demonstrating recurrent PRES in a HIV patient on hemodialysis for end-stage renal disease.

  4. Acute Renal Failure and Volume Overload Syndrome Secondary to a Femorofemoral Arteriovenous Fistula Angioplasty in a Kidney Transplant Recipient

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    Dominique Bertrand

    2013-01-01

    Full Text Available Experimental and clinical studies analyzing the impact of AVF on cardiovascular and renal parameters, as well as outcomes, in kidney transplant recipients are lacking. On the other hand, it is not known whether AVF ligation after transplantation modifies hemodynamic parameters and kidney function. We report a case of a renal transplant recipient who developed an acute congestive heart failure accompanied by renal failure, which were triggered by femorofemoral AVF angioplasty. Prompt AVF ligation rapidly reversed clinical symptoms and normalized cardiac and renal functions. This paper illustrates the potential deleterious consequences of high-output AVF after kidney transplantation and raises considerations regarding the impact of the fistula on cardiac status and kidney function after kidney transplantation and, consequently, the management AVF after transplantation.

  5. Dietary fish oil reduces glomerular injury and elevated renal hydroxyeicosatetraenoic acid levels in the JCR:LA-cp rat, a model of the metabolic syndrome.

    Science.gov (United States)

    Aukema, Harold M; Lu, Jing; Borthwick, Faye; Proctor, Spencer D

    2013-07-14

    We have previously shown nutritional intervention with fish oil (n-3 PUFA) to reduce numerous complications associated with the metabolic syndrome (MetS) in the JCR:LA-corpulent (cp) rat. In the present study, we sought to explore the potential role of fish oil to prevent glomerulosclerosis in JCR:LA-cp rats via renal eicosanoid metabolism and lipidomic analysis. Male lean and MetS JCR:LA-cp rats were fed a lipid-balanced diet supplemented with fish oil (5 or 10 % of total fat). After 16 weeks of feeding, albuminuria was significantly reduced in MetS rats supplemented with 5 or 10 % fish oil ( - 53 and - 70 %, respectively, compared with the untreated MetS rats). The 5 % fish oil diet resulted in markedly lower glomerulosclerosis ( - 43 %) in MetS rats and to a lesser extent in those supplemented with 10 % fish oil. Interestingly, untreated MetS rats had higher levels of 11- and 12-hydroxyeicosatetraenoic acids (HETE) v. lean rats. Dietary fish oil reduced these levels, as well as other (5-, 9- and 15-) HETE. Whilst genotype did not alter prostanoid levels, fish oil reduced endogenous renal levels of 6-keto PGF1α (PGI2 metabolite), thromboxane B2 (TxB2), PGF2α and PGD2 by approximately 60 % in rats fed 10 % fish oil, and TxB2 ( - 50 %) and PGF2α ( - 41 %) in rats fed 5 % fish oil. In conclusion, dietary fish oil prevented glomerular damage in MetS rats and mitigated the elevation in renal HETE levels. These results suggest a potential role for dietary fish oil to improve dysfunctional renal eicosanoid metabolism associated with kidney damage during conditions of the MetS.

  6. UAB HRFD Core Center: Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource

    Science.gov (United States)

    2016-08-23

    Hepato/Renal Fibrocystic Disease; Autosomal Recessive Polycystic Kidney Disease; Joubert Syndrome; Bardet Biedl Syndrome; Meckel-Gruber Syndrome; Congenital Hepatic Fibrosis; Caroli Syndrome; Oro-Facial-Digital Syndrome Type I; Nephronophthisis; Glomerulocystic Kidney Disease

  7. 慢性肾衰竭的中医辨证论治研究进展%The research progress of traditional Chinese medicine syndrome differentiation and treatment of chronic renal failure

    Institute of Scientific and Technical Information of China (English)

    周玮莎; 郭金彪; 张超; 郭欢芳; 张春艳

    2016-01-01

    目的:深入探讨慢性肾衰竭的中医辨证论治研究进展,提高临床对慢性肾衰竭的治疗疗效。方法:通过总结近年各医家对慢性肾衰竭的中医学认识及中医辨证论治研究等方面进行综述。结论:从中医学对慢性肾衰竭的辨证论治的研究进展进行探究,对临床诊治慢性肾衰竭具有指导意义。%Objective Penetrates the research progress of TCM syndrome differentiation and treatment of chronic renal failure, improve the clinical curative effect of chronic renal failure.Methods Through summarizing the understanding of the traditional Chinese medicine for chronic renal failure in recent years, the treatment based on syndrome differentiation of traditional Chinese medicine were reviewed.Conclusions Traditional Chinese medicine study of syndrome differentiation and treatment of chronic renal failure, has guiding significance for clinical diagnosis and treatment of chronic renal failure.

  8. Vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association with Mayer-Rokitansky-Küster-Hauser syndrome in co-occurrence

    DEFF Research Database (Denmark)

    Bjørsum-Meyer, Thomas; Herlin, Morten; Qvist, Niels

    2016-01-01

    Background: The vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association and Mayer-Rokitansky-Küster-Hauser syndrome are rare conditions. We aimed to present two cases with the vertebral defect, anal atresia, cardiac...... defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association and Mayer-Rokitansky-Küster-Hauser co-occurrence from our local surgical center and through a systematic literature search detect published cases. Furthermore, we aimed to collect existing knowledge...... in the embryopathogenesis and genetics in order to discuss a possible link between the vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association and Mayer-Rokitansky-Küster-Hauser syndrome. Case presentation: Our first case was a white girl...

  9. Cardiovascular and renal anomalies in Turner syndrome Anomalias cardiovasculares e renais na síndrome de Turner

    Directory of Open Access Journals (Sweden)

    Annelise Barreto Carvalho

    2010-01-01

    Full Text Available OBJECTIVE: To evaluate the frequency and type of cardiovascular (CV and renal/collecting system (R/CS abnormalities seen in a sample of patients with Turner Syndrome (TS and to verify the proportion of those anomalies detected only after diagnosis was established. METHODS: Retrospective study of 130 patients with TS diagnosed in an outpatient setting between 1989 and 2006. The mean age at diagnosis was 11.9 years. Data were obtained by personal history of CV and R/CS disorders and by results of echocardiogram and ultrasonography of the kidneys and collecting system performed after diagnosis. RESULTS: 25.6% of patients who underwent echocardiograms presented CV abnormalities. Among them, mitral regurgitation (21.4%, bicuspid aortic valve (19% and aortic coarctation (19% were the most frequent. R/CS anomalies were found in 29.3% of patients who underwent ultrasonography. Among them, duplication of the collecting system and hydronephrosis (25% each and horseshoe kidney (21.2% were the most frequent. In about 80% of cases there was no previous knowledge of these anomalies. CONCLUSION: The frequency of CV and R/CS abnormalities found in this study was similar to that of previous studies, but most were found in routine exams after TS diagnosis. Thus, early detection of associated anomalies depends on early detection of TS.OBJETIVO: Analisar a frequência e os tipos de anomalias cardiovasculares (CV e de anomalias renais ou de sistema coletor (R/SC em uma amostra de pacientes com síndrome de Turner (ST e verificar a proporção dessas anomalias que só foram detectadas após o estabelecimento do diagnóstico. MÉTODOS: Estudo retrospectivo de 130 pacientes com ST diagnosticadas em serviço ambulatorial entre 1989 e 2006. A média de idade ao diagnóstico foi 11,9 anos. Foram coletados dados sobre antecedentes pessoais de anomalias CV e R/SC e resultados de ecocardiograma e ultrassonografia de rins e vias urinárias realizados após o diagn

  10. Management of renal disease in pregnancy.

    Science.gov (United States)

    Podymow, Tiina; August, Phyllis; Akbari, Ayub

    2010-06-01

    Although renal disease in pregnancy is uncommon, it poses considerable risk to maternal and fetal health. This article discusses renal physiology and assessment of renal function in pregnancy and the effect of pregnancy on renal disease in patients with diabetes, lupus, chronic glomerulonephritis, polycystic kidney disease, and chronic pyelonephritis. Renal diseases occasionally present for the first time in pregnancy, and diagnoses of glomerulonephritis, acute tubular necrosis, hemolytic uremic syndrome, and acute fatty liver of pregnancy are described. Finally, therapy of end-stage renal disease in pregnancy, dialysis, and renal transplantation are reviewed.

  11. Congenital seminal vesicle cyst accompanying with ipsilateral renal agenesis in an adolescent patient: A pediatric radiologist approach to Zinner’s syndrome

    Directory of Open Access Journals (Sweden)

    Mehmet Burak Özkan

    2015-12-01

    Full Text Available A fifteen-year-old boy who had complaints of left sided pelvic pain with known ipsilateral left renal agenesia was referred to pediatric radiology department. Incidentally, his sonography examination revealed a dilated tubular structure located in the retro-vesicular region from cephalic to prostate. Contrast enhanced pelvic MRI showed a huge seminal vesicle cyst which is over 6 cm without a mass effect near the aspect border of the prostate and bladder. The patient was diagnosed with Zinner syndrome. The patient doesn’t have new complaint with no definite increase in the diameter of the cyst. In this case presentation we are discussing the Zinner syndrome’s imaging findings from a pediatric radiologist approach with a brief review of the literature.

  12. Brachygnathia, cardiomegaly and renal hypoplasia syndrome (BCRHS) in Merino sheep maps to a 1.1-megabase region on ovine chromosome OAR2.

    Science.gov (United States)

    Shariflou, M R; Wade, C M; Kijas, J; McCulloch, R; Windsor, P A; Tammen, I; Nicholas, F W

    2013-04-01

    A genome scan was conducted to map the autosomal recessive lethal disorder brachygnathia, cardiomegaly and renal hypoplasia syndrome (BCRHS) in Poll Merino sheep. The scan involved 10 affected and 27 unaffected animals from a single Poll Merino/Merino sheep flock, which were genotyped with the Illumina Ovine SNP50 BeadChip. Association and homozygosity mapping analyses located the disorder in a region comprising 20 consecutive SNPs spanning 1.1 Mb towards the distal end of chromosome OAR2. All affected animals and none of the unaffected animals were homozygous for the associated haplotype in this region. These results provide the basis for identifying the causative mutation(s) and should enable the development of a DNA test to identify carriers in the Poll Merino sheep population. Understanding the molecular control of BCRHS may provide insight into the fundamental genetic control and regulation of the affected organ systems.

  13. Mutation screening of the EYA1, SIX1, and SIX5 genes in an East Asian cohort with branchio-oto-renal syndrome.

    Science.gov (United States)

    Wang, Shih-Hao; Wu, Chen-Chi; Lu, Ying-Chang; Lin, Yin-Hung; Su, Yi-Ning; Hwu, Wuh-Liang; Yu, I-Shing; Hsu, Chuan-Jen

    2012-05-01

    To explore the genetic characteristics of branchio-oto-renal (BOR) syndrome in an East Asian population. Prospective clinical genetic study. Twelve families (total of 18 patients) who fulfilled the criteria for BOR syndrome were enrolled in this study. Mutation screening of the EYA1, SIX1, and SIX5 genes was performed by direct sequencing and quantitative polymerase chain reaction, and genotype-phenotype correlation was investigated. Two novel EYA1 variants, c.466C>T (p.Q156X) and c.1735delG (p.D579fs), were identified in two multiplex families. The c.466C>T variant resulted in a truncated EYA1 protein, whereas the c.1735delG variant was predicted to encode an EYA1 protein with an abnormal C terminal. Neither variant was identified in a panel of 100 normal controls, and both were cosegregated with the BOR phenotype in the pedigrees, indicating that they were pathogenic mutations. No SIX1 and SIX5 mutations were detected in members of the remaining 10 families. Analysis of the genotype-phenotype correlation revealed a high phenotypic variability between and within BOR families. Two novel EYA1 mutations (c.466C>T and c.1735delG) were identified in two families with BOR syndrome. SIX1 and SIX5 mutations were not detected in the present study. Further investigation is warranted regarding the contribution of SIX1 and SIX5 mutations to BOR syndrome in East Asian populations. Copyright © 2012 The American Laryngological, Rhinological, and Otological Society, Inc.

  14. Risks of Decreased Renal Function and Increased Albuminuria for Glycemic Status and Metabolic Syndrome Components: Taichung Community Health Study

    Directory of Open Access Journals (Sweden)

    Cheng-Chieh Lin

    2014-01-01

    Full Text Available Background. The objective of this study was to assess the association of glycemic status and decreased renal function as determined by estimated glomerular filtration rate (eGFR and albuminuria in an adult Taiwanese metropolitan population. Methods. We did a cross-sectional survey in a representative sample of 2,350 Taiwanese adults aged 40 years and over living in a metropolitan city in Taiwan from 2004 to 2005. Glycemic status was classified as normal glycemia, hyperglycemia, and type 2 diabetes (T2D. Renal function was assessed with eGFR using modified Modification of Diet in Renal Disease Study equation for Chinese. Albuminuria was determined by the urinary albumin-creatinine ratio. Decreased renal function was defined as eGFR 30 mg g−1 creatinine. Results. 593 (25.23% had hyperglycemia and 287 (12.21% had T2D. As glycemia level increased, the prevalence of albuminuria and decreased eGFR increased. After adjustment, T2D was associated with an OR of 2.93 (95% CI: 2.11–4.07 for albuminuria, and an OR of 2.05 (95% CI: 1.18–3.58 for decreased eGFR. Conclusions. In a representative sample from a metropolitan city in Taiwan, T2D was associated with albuminuria and decreased eGFR.

  15. Systematic review of TCF2 anomalies in renal cysts and diabetes syndrome/maturity onset diabetes of the young type 5

    Institute of Scientific and Technical Information of China (English)

    CHEN Yi-zhi; GAO Qing; ZHAO Xue-zhi; CHEN Ying-zhang; Craig L Bennett; XIONG Xi-shan; MEI Chang-lin; SHI Yong-quan; CHEN Xiang-mei

    2010-01-01

    Objective There is a paucity of published works that systematically evaluate gene anomalies or clinical features of patients with renal cysts and diabetes syndrome (RCAD)/maturity onset diabetes of the young type 5 (MODY5). The purpose of this review was to systematically assess the detection rate, genetic and phenotypic implications of heterozygous autosomal dominant TCF2 anomalies.Data sources MEDLINE database was searched to select articles recorded in English from 1997 to 2008. The focus was monoallelic germline TCF2 gene mutations/deletions. Biallelic inactivation, polymorphisms, DNA modification (hypomethylation and hypermethylation), loci associated with cancer risk, and somatic TCF2 anomalies were all excluded.Study selection After searching the literature, 50 articles were selected.Results The detection rate of TCF2 anomalies was 9.7% and varied considerably among MODY (1.4%), renal structure anomalies (RSA) (21.4%) and RSA with MODY (41.2%) subgroups. Mutations were strikingly located within the DNA binding domain and varied among exons of the DNA binding domain: exons 2 and 4 were the hottest spots, while mutations were sporadically distributed in exon 3. The consistent phenotypes were RSA (89.6%) and diabetes mellitus (DM) (45.0%). However, the concurrence of RSA and DM was relatively low (27.5%), which hinders the optimal performance of genetic testing and obtainment of timely diagnosis. Other organ involvements were complementary and necessary for the early identification of patients with TCF2 anomalies. Analysis of phenotypes of TCF2 point mutations showed significant differences in the detection rates of RSA, impaired renal function (IRF) and DM according to mutation type but not utation location.Conclusion These valuable features of TCF2 anomalies that previously did not receive sufficient attention should not be neglected.

  16. Distinctive expression patterns of glycoprotein non-metastatic B and folliculin in renal tumors in patients with Birt-Hogg-Dubé syndrome.

    Science.gov (United States)

    Furuya, Mitsuko; Hong, Seung-Beom; Tanaka, Reiko; Kuroda, Naoto; Nagashima, Yoji; Nagahama, Kiyotaka; Suyama, Takahito; Yao, Masahiro; Nakatani, Yukio

    2015-03-01

    Birt-Hogg-Dubé syndrome (BHD) is an inherited disorder associated with a germline mutation of the folliculin gene (FLCN). The affected families have a high risk for developing multiple renal cell carcinomas (RCC). Diagnostic markers that distinguish between FLCN-related RCC and sporadic RCC have not been investigated, and many patients with undiagnosed BHD fail to receive proper medical care. We investigated the histopathology of 27 RCCs obtained from 18 BHD patients who were diagnosed by genetic testing. Possible somatic mutations of RCC lesions were investigated by DNA sequencing. Western blotting and immunohistochemical staining were used to compare the expression levels of FLCN and glycoprotein non-metastatic B (GPNMB) between FLCN-related RCCs and sporadic renal tumors (n = 62). The expression of GPNMB was also evaluated by quantitative RT-PCR. Histopathological analysis revealed that the most frequent histological type was chromophobe RCC (n = 12), followed by hybrid oncocytic/chromophobe tumor (n = 6). Somatic mutation analysis revealed small intragenic mutations in six cases and loss of heterozygosity in two cases. Western blot and immunostaining analyses revealed that FLCN-related RCCs showed overexpression of GPNMB and underexpression of FLCN, whereas sporadic tumors showed inverted patterns. GPNMB mRNA in FLCN-related RCCs was 23-fold more abundant than in sporadic tumors. The distinctive expression patterns of GPNMB and FLCN might identify patients with RCCs who need further work-up for BHD.

  17. Rimonabant-mediated changes in intestinal lipid metabolism and improved renal vascular dysfunction in the JCR:LA-cp rat model of prediabetic metabolic syndrome.

    Science.gov (United States)

    Russell, James C; Kelly, Sandra E; Diane, Abdoulaye; Wang, Ye; Mangat, Rabban; Novak, Susan; Vine, Donna F; Proctor, Spencer D

    2010-08-01

    Rimonabant (SR141716) is a specific antagonist of the cannabinoid-1 receptor. Activation of the receptor initiates multiple effects on central nervous system function, metabolism, and body weight. The hypothesis that rimonabant has protective effects against vascular disease associated with the metabolic syndrome was tested using JCR:LA-cp rats. JCR:LA-cp rats are obese if they are cp/cp, insulin resistant, and exhibit associated micro- and macrovascular disease with end-stage myocardial and renal disease. Treatment of obese rats with rimonabant (10 mg.kg(-1).day(-1), 12-24 wk of age) caused transient reduction in food intake for 2 wk, without reduction in body weight. However, by 4 wk, there was a modest, sustained reduction in weight gain. Glycemic control improved marginally compared with controls, but at the expense of increased insulin concentration. In contrast, rimonabant normalized fasting plasma triglyceride and reduced plasma plasminogen activator inhibitor-1 and acute phase protein haptoglobin in cp/cp rats. Furthermore, these changes were accompanied by reduced postprandial intestinal lymphatic secretion of apolipoprotein B48, cholesterol, and haptoglobin. While macrovascular dysfunction and ischemic myocardial lesion frequency were unaffected by rimonabant treatment, both microalbuminuria and glomerular sclerosis were substantially reduced. In summary, rimonabant has a modest effect on body weight in freely eating obese rats and markedly reduces plasma triglyceride levels and microvascular disease, in part due to changes in intestinal metabolism, including lymphatic secretion of apolipoprotein B48 and haptoglobin. We conclude that rimonabant improves renal disease and intestinal lipid oversecretion associated with an animal model of the metabolic syndrome that appears to be independent of hyperinsulinemia or macrovascular dysfunction.

  18. Hepatorenal syndrome

    Institute of Scientific and Technical Information of China (English)

    Sharon Turban; Paul J Thuluvath; Mohamed G Atta

    2007-01-01

    Hepatorenal syndrome (HRS) is a "functional" and reversible form of renal failure that occurs in patients with advanced chronic liver disease. The distinctive hallmark feature of HRS is the intense renal vasoconstriction caused by interactions between systemic and portal hemodynamics. This results in activation of vasoconstrictors and suppression of vasodilators in the renal circulation. Epidemiology, pathophysiology, as well as current and emerging therapies of HRS are discussed in this review.

  19. Posterior Reversible Encephalopathy Syndrome in a Patient with Newly Diagnosed HIV Infection and End Stage Renal Disease

    OpenAIRE

    2013-01-01

    Posterior reversible encephalopathy syndrome (PRES) is a clinicoradiological syndrome in which patients present with an acute or subacute clinical presentation of seizures, visual disturbances, headache, and altered mental status. The pathophysiology of PRES may be explained by endothelial dysfunction that leads to transudation of fluids and protein, resulting in vasogenic cerebral edema. PRES is typically associated with many conditions such as hypertension, uremia, immunosuppressive drugs, ...

  20. Genetics Home Reference: branchiootorenal/branchiootic syndrome

    Science.gov (United States)

    ... become infected, so they are often removed surgically. "Oto-" and "-otic" refer to the ear ; most people ... Condition BO syndrome BOR BOR syndrome BOS branchio-oto-renal syndrome branchio-otorenal dysplasia branchio-otorenal syndrome ...

  1. A 600 kb triplication in the cat eye syndrome critical region causes anorectal, renal and preauricular anomalies in a three-generation family.

    Science.gov (United States)

    Knijnenburg, Jeroen; van Bever, Yolande; Hulsman, Lorette O M; van Kempen, Chantal A P; Bolman, Galhana M; van Loon, Rosa Laura E; Beverloo, H Berna; van Zutven, Laura J C M

    2012-09-01

    Cat eye syndrome (CES) is caused by a gain of the proximal part of chromosome 22. Usually, a supernumerary marker chromosome is present, containing two extra copies of the chromosome 22q11.1q11.21 region. More sporadically, the gain is present intrachromosomally. The critical region for CES is currently estimated to be about 2.1 Mb and to contain at least 14 RefSeq genes. Gain of this region may cause ocular coloboma, preauricular, anorectal, urogenital and congenital heart malformations. We describe a family in which a 600 kb intrachromosomal triplication is present in at least three generations. The copy number alteration was detected using MLPA and further characterized with interphase and metaphase FISH and SNP-array. The amplified fragment is located in the distal part of the CES region. The family members show anal atresia and preauricular tags or pits, matching part of the phenotype of this syndrome. This finding suggests that amplification of the genes CECR2, SLC25A18 and ATP6V1E1, mapping within the critical region for CES, may be responsible for anorectal, renal and preauricular anomalies in patients with CES.

  2. Trauma renal Renal trauma

    Directory of Open Access Journals (Sweden)

    Gerson Alves Pereira Júnior

    1999-02-01

    Full Text Available Apresentamos uma revisão sobre trauma renal, com ênfase na avaliação radiológica, particularmente com o uso da tomografia computadorizada, que tem se tornado o exame de eleição, ao invés da urografia excretora e arteriografia. O sucesso no tratamento conservador dos pacientes com trauma renal depende de um acurado estadiamento da extensão da lesão, classificado de acordo com a Organ Injury Scaling do Colégio Americano de Cirurgiões. O tratamento conservador não-operatório é seguro e consiste de observação contínua, repouso no leito, hidratação endovenosa adequada e antibioti- coterapia profilática, evitando-se uma exploração cirúrgica desnecessária e possível perda renal. As indicações para exploração cirúrgica imediata são abdome agudo, rápida queda do hematócrito ou lesões associadas determinadas na avaliação radiológica. Quando indicada, a exploração renal após controle vascular prévio é segura, permitindo cuidadosa inspeção do rim e sua reconstrução com sucesso, reduzindo a probabilidade de nefrectomia.We present a revision of the renal trauma with emphasis in the radiographic evaluation, particularly CT scan that it has largely replaced the excretory urogram and arteriogram in the diagnostic worh-up and management of the patient with renal trauma. The successful management of renal injuries depends upon the accurate assessment of their extent in agreement with Organ Injury Scaling classification. The conservative therapy managed by careful continuous observation, bed rest, appropriate fluid ressuscitation and prophylactic antibiotic coverage after radiographic staging for severely injured kidneys can yield favorable results and save patients from unnecessary exploration and possible renal loss. The indications for immediate exploratory laparotomy were acute abdomen, rapidly dropping hematocrit or associated injuries as determinated from radiologic evaluation. When indicated, renal exploration

  3. Renal small B-cell lymphoma with plasmacytic differentiation presenting with monoclonal gammopathy and disseminated intravascular coagulation syndrome

    Directory of Open Access Journals (Sweden)

    Paula de Oliveira Pádua Prestes

    2013-10-01

    Full Text Available Primary renal lymphomas are very rare. However, the kidney may be a site of metastasis, usually from a disseminated aggressive lymphoma. A 58-year-old woman was brought to the medical facility due to acute mental confusion, severe hypotension, septic shock, and signs of disseminated intravascular coagulation. Laboratory tests showed severe leukopenia, renal failure, altered liver function, and elevated serum lactate dehydrogenase levels. Protein electrophoresis revealed hypergammaglobulinemia with a monoclonal peak of IgG lambda. The clinical outcome was fulminant and the patient died less than 24 hours after admission. Autopsy revealed an indolent B-cell lymphoma with extensive plasmacytic differentiation infiltrating the right renal sinus and involving the submandibular and sublingual glands, cervical and peri-aortic lymph nodes, multiple microscopic foci in pituitary and adrenal glands, lung, breast, liver, thyroid, and bone marrow. Numerous IgG4-positive plasma cells were detected by immunohistochemistry although other histological features of IgG4-related disease were missing. There was also extensive hemorrhagic necrosis of the adrenal glands and purulent cystitis, which was probably responsible for the septic shock. The authors concluded that the kidney was most likely the primary site of the indolent lymphoma, as that was the site with the largest tumor mass. Infiltration of other organs was considered as dissemination of the disease. The differential diagnosis with mucosa-associated lymphoid tissue and lymphoplasmacytic lymphoma is discussed.

  4. Renal arteriography

    Science.gov (United States)

    ... Read More Acute arterial occlusion - kidney Acute kidney failure Aneurysm Atheroembolic renal disease Blood clots Renal cell carcinoma Renal venogram X-ray Review Date 1/5/2016 Updated by: Jason Levy, ...

  5. Drug-induced renal disease.

    Science.gov (United States)

    Curtis, J R

    1979-11-01

    The clinical manifestations of drug-induced renal disease may include all the manifestations attributed to natural or spontaneous renal diseases such as acute renal failure, chronic renal failure, acute nephritic syndrome, renal colic, haematuria, selective tubular defects, obstructive nephropathy, etc. It is therefore vital in any patient with renal disease whatever the clinical manifestations might be, to obtain a meticulous drug and toxin inventory. Withdrawal of the offending drug may result in amelioration or cure of the renal disorder although in the case of severe renal failure it may be necessary to utilise haemodialysis or peritoneal dialysis to tide the patient over the period of acute renal failure. Analgesic nephropathy is an important cause of terminal chronic renal failure and it is therefore vital to make the diagnosis as early as possible. The pathogenesis of some drug-induced renal disorders appears to be immunologically mediated. There are many other pathogenetic mechanisms involved in drug-induced renal disorders and some drugs may under appropriate circumstances be responsible for a variety of different nephrotoxic effects. For example, the sulphonamides have been incriminated in examples of crystalluria, acute interstitial nephritis, acute tubular necrosis, generalised hypersensitivity reactions, polyarteritis nodosa and drug-induced lupus erythematosus.

  6. Novel camelid antibody fragments targeting recombinant nucleoprotein of Araucaria hantavirus: a prototype for an early diagnosis of Hantavirus Pulmonary Syndrome.

    Science.gov (United States)

    Pereira, Soraya S; Moreira-Dill, Leandro S; Morais, Michelle S S; Prado, Nidiane D R; Barros, Marcos L; Koishi, Andrea C; Mazarrotto, Giovanny A C A; Gonçalves, Giselle M; Zuliani, Juliana P; Calderon, Leonardo A; Soares, Andreimar M; Pereira da Silva, Luiz H; Duarte dos Santos, Claudia N; Fernandes, Carla F C; Stabeli, Rodrigo G

    2014-01-01

    In addition to conventional antibodies, camelids produce immunoglobulins G composed exclusively of heavy chains in which the antigen binding site is formed only by single domains called VHH. Their particular characteristics make VHHs interesting tools for drug-delivery, passive immunotherapy and high-throughput diagnosis. Hantaviruses are rodent-borne viruses of the Bunyaviridae family. Two clinical forms of the infection are known. Hemorrhagic Fever with Renal Syndrome (HFRS) is present in the Old World, while Hantavirus Pulmonary Syndrome (HPS) is found on the American continent. There is no specific treatment for HPS and its diagnosis is carried out by molecular or serological techniques, using mainly monoclonal antibodies or hantavirus nucleoprotein (N) to detect IgM and IgG in patient serum. This study proposes the use of camelid VHHs to develop alternative methods for diagnosing and confirming HPS. Phage display technology was employed to obtain VHHs. After immunizing one Lama glama against the recombinant N protein (prNΔ₈₅) of a Brazilian hantavirus strain, VHH regions were isolated to construct an immune library. VHHs were displayed fused to the M13KO7 phage coat protein III and the selection steps were performed on immobilized prNΔ₈₅. After selection, eighty clones recognized specifically the N protein. These were sequenced, grouped based mainly on the CDRs, and five clones were analyzed by western blot (WB), surface plasmon resonance (SPR) device, and ELISA. Besides the ability to recognize prNΔ85 by WB, all selected clones showed affinity constants in the nanomolar range. Additionaly, the clone KC329705 is able to detect prNΔ₈₅ in solution, as well as the native viral antigen. Findings support the hypothesis that selected VHHs could be a powerful tool in the development of rapid and accurate HPS diagnostic assays, which are essential to provide supportive care to patients and reduce the high mortality rate associated with hantavirus

  7. Novel camelid antibody fragments targeting recombinant nucleoprotein of Araucaria hantavirus: a prototype for an early diagnosis of Hantavirus Pulmonary Syndrome.

    Directory of Open Access Journals (Sweden)

    Soraya S Pereira

    Full Text Available In addition to conventional antibodies, camelids produce immunoglobulins G composed exclusively of heavy chains in which the antigen binding site is formed only by single domains called VHH. Their particular characteristics make VHHs interesting tools for drug-delivery, passive immunotherapy and high-throughput diagnosis. Hantaviruses are rodent-borne viruses of the Bunyaviridae family. Two clinical forms of the infection are known. Hemorrhagic Fever with Renal Syndrome (HFRS is present in the Old World, while Hantavirus Pulmonary Syndrome (HPS is found on the American continent. There is no specific treatment for HPS and its diagnosis is carried out by molecular or serological techniques, using mainly monoclonal antibodies or hantavirus nucleoprotein (N to detect IgM and IgG in patient serum. This study proposes the use of camelid VHHs to develop alternative methods for diagnosing and confirming HPS. Phage display technology was employed to obtain VHHs. After immunizing one Lama glama against the recombinant N protein (prNΔ₈₅ of a Brazilian hantavirus strain, VHH regions were isolated to construct an immune library. VHHs were displayed fused to the M13KO7 phage coat protein III and the selection steps were performed on immobilized prNΔ₈₅. After selection, eighty clones recognized specifically the N protein. These were sequenced, grouped based mainly on the CDRs, and five clones were analyzed by western blot (WB, surface plasmon resonance (SPR device, and ELISA. Besides the ability to recognize prNΔ85 by WB, all selected clones showed affinity constants in the nanomolar range. Additionaly, the clone KC329705 is able to detect prNΔ₈₅ in solution, as well as the native viral antigen. Findings support the hypothesis that selected VHHs could be a powerful tool in the development of rapid and accurate HPS diagnostic assays, which are essential to provide supportive care to patients and reduce the high mortality rate associated with

  8. Studies with muscle cells from controls and a patient with the cerebro-hepato-renal (Zellweger) syndrome

    NARCIS (Netherlands)

    Wanders, R.J.A.; Barth, P.G.; Roermund, C.W.T. van; Ofman, R.; Wolterman, R.; Schutgens, R.B.H.; Tager, J.M.; Bosch, H. van den; Bolhuis, P.A.

    In the present study we investigated peroxisomal functions in cultured human muscle cells from control subjects and from a patient with the Zellweger syndrome, a genetic disease characterized by the absence of morphologically distinguishable peroxisomes in liver and kidney. In homogenates of

  9. Deficiency of acyl-CoA: Dihydroxyacetone phosphate acyltransferase in patients with Zellweger (cerebro-hepato-renal) syndrome

    NARCIS (Netherlands)

    Bosch, H. van den; Schutgens, R.B.H.; Romeyn, G.J.; Wanders, R.J.A.; Schrakamp, G.; Heymans, H.S.A.

    1984-01-01

    We have recently reported on plasmalogen deficiency in tissues and fibroblasts from patients with Zellweger syndrome. In this paper we have analyzed the activity of the first enzyme in the pathway leading to plasmalogen biosynthesis, i.e. acyl-CoA: dihydroxyacetone phosphate acyltransferase in

  10. Complicated Tumor Lysis Syndrome after CVVH Treatment in a Renal Transplantation Patient: One Case Report and Literature Review

    Institute of Scientific and Technical Information of China (English)

    Zengbo Liu; Li Li; Jianhui Yang; Zhishuang Han; Zengyi Ma; Aimei Feng

    2009-01-01

    @@ Introduction Tumor lysis syndrome (TLS) is a potentially lethal emergency caused by lysed tumor cells, and it frequently occurs in tumors of hematologic origin. Up until now, there has been only one known report published overseas about TLS resulting from post-transplant lymphoproliferative disorder (PTLD)[1].

  11. Concurrent presentation of hemolytic uremic syndrome in two adult siblings : effects of plasma therapy on hemolysis and renal function

    NARCIS (Netherlands)

    von Gameren, I I; Rensma, P L; Zijlstra, J G; de Wolf, J; de Jong, Paul

    1994-01-01

    We describe 2 sisters who presented with the hemolytic uremic syndrome (HUS) almost simultaneously. In both patients an upper airway infection with Haemophilus influenzae immediately preceding HUS may have been the environmental trigger. Fresh plasma infusion had only minor therapeutic effects but p

  12. Deficiency of acyl-CoA: Dihydroxyacetone phosphate acyltransferase in patients with Zellweger (cerebro-hepato-renal) syndrome

    NARCIS (Netherlands)

    Bosch, H. van den; Schutgens, R.B.H.; Romeyn, G.J.; Wanders, R.J.A.; Schrakamp, G.; Heymans, H.S.A.

    1984-01-01

    We have recently reported on plasmalogen deficiency in tissues and fibroblasts from patients with Zellweger syndrome. In this paper we have analyzed the activity of the first enzyme in the pathway leading to plasmalogen biosynthesis, i.e. acyl-CoA: dihydroxyacetone phosphate acyltransferase in liver

  13. Studies with muscle cells from controls and a patient with the cerebro-hepato-renal (Zellweger) syndrome

    NARCIS (Netherlands)

    Wanders, R.J.A.; Barth, P.G.; Roermund, C.W.T. van; Ofman, R.; Wolterman, R.; Schutgens, R.B.H.; Tager, J.M.; Bosch, H. van den; Bolhuis, P.A.

    1987-01-01

    In the present study we investigated peroxisomal functions in cultured human muscle cells from control subjects and from a patient with the Zellweger syndrome, a genetic disease characterized by the absence of morphologically distinguishable peroxisomes in liver and kidney. In homogenates of culture

  14. Turner Syndrome

    Directory of Open Access Journals (Sweden)

    Ravinder K. Gupta, Ritu Gupta, Sunil Dutt Sharma

    2006-10-01

    Full Text Available Turner Syndrome is one of the important chromosomal disorders characterised by loss (total or part ofsex chromosome. The manifestations being peripheral edema, short stature, extra skin fold, webbing ofneck, renal and cardiovascular anomalies, sexual infantilism, learning disability etc. We present here aone month female baby who had classical features of Turner Syndrome. The karyotape analysis wasconsistent with the diagnosis.

  15. Rare case of nephrotic syndrome: Schimke syndrome

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    Anna Kelly Krislane de Vasconcelos Pedrosa

    Full Text Available Abstract Schimke syndrome corresponds to dysplasia of bone and immunity, associated with progressive renal disease secondary to nephrotic syndrome cortico-resistant, with possible other abnormalities such as hypothyroidism and blond marrow aplasia. It is a rare genetic disorder, with few reports in the literature. The most frequent renal involvement is nephrotic syndrome with focal segmental glomerulosclerosis and progressive renal failure. The objective of this study was to report a case of Schimke syndrome, diagnostic investigation and management of the case.

  16. Fanconi Bickel Syndrome: Novel Mutations in GLUT 2 Gene Causing a Distinguished Form of Renal Tubular Acidosis in Two Unrelated Egyptian Families

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    Mohammad Al-Haggar

    2011-01-01

    Full Text Available Background. Fanconi-Bickel syndrome (FBS is an autosomal recessive disorder caused by defects in facilitative glucose transporter 2 (GLUT2 or SLC2A2 gene mapped on chromosome 3q26.1-26.3, that codes for the glucose transporter protein 2. Methods. Two unrelated Egyptian families having suspected cases of FBS were enrolled after taking a written informed consent; both had positive consanguinity, and index cases had evidences of proximal renal tubular defects with hepatomegaly; they were subjected to history taking, signs of rickets as well as anthropometric measurements. Laboratory workup included urinalysis, renal and liver function tests including fasting and postprandial blood sugar; serum calcium, phosphorus, alkaline phosphatase, sodium and potassium, lipid profile, and detailed blood gas. Imaging including bone survey and abdominal ultrasound, and liver biopsy were done to confirm diagnosis. Molecular analysis of the GLUT2 gene was done for DNA samples extracted from peripheral blood leukocyte. All coding sequences, including flanking introns in GLUT2 gene, were amplified using PCR followed by direct sequencing. Results. Two new mutations had been detected, one in each family, in exon 3 two bases (GA were deleted (c.253 254delGA and in exon 6 in the second family, G-to-C substitution at position-1 of the splicing acceptor site (c.776-1G>C or IVS5-1G>A. Conclusion. FBS is a rare disease due to mutation in GLUT2 gene; many mutations were reported, about half were novel mutations; yet none of these mutations is more frequent. A more extensive survey for the most frequent mutations among FBS has to be contemplated to allow for use of molecular screening tests like ARMS.

  17. Steroid-resistant idiopathic nephrotic syndrome in children: long-term follow-up and risk factors for end-stage renal disease

    Directory of Open Access Journals (Sweden)

    Alberto Zagury

    2013-09-01

    Full Text Available INTRODUTION: Steroid resistant idiopathic nephrotic syndrome (SRINS in children is one of the leading causes of progression to chronic kidney disease stage V (CKD V/end stage renal disease (ESRD. OBJECTIVE: The aim of this retrospective study is to evaluate the efficacy of immunosuppressive drugs (IS and to identify risk factors for progression to ESRD in this population. METHODS: Clinical and biochemical variables at presentation, early or late steroid resistance, histological pattern and response to cyclosporine A (CsA and cyclophosfamide (CP were reviewed in 136 children with SRINS. The analyzed outcome was the progression to ESRD. Univariate as well as multivariate Cox-regression analysis were performed. RESULTS: Median age at onset was 5.54 years (0.67-17.22 and median follow up time was 6.1 years (0.25-30.83. Early steroid-resistance was observed in 114 patients and late resistance in 22. Resistance to CP and CsA was 62.9% and 35% respectively. At last follow-up 57 patients reached ESRD. The renal survival rate was 71.5%, 58.4%, 55.3%, 35.6% and 28.5% at 5, 10, 15, 20 and 25 years respectively. Univariate analysis demonstrated that older age at onset, early steroid-resistance, hematuria, hypertension, focal segmental glomerulosclerosis (FSGS, and resistance to IS were risk factors for ESRD. The Cox proportional-hazards regression identified CsAresistance and FSGS as the only predictors for ESRD. CONCLUSION: Our findings showed that CsA-resistance and FSGS were risk factors for ESRD.

  18. Fras1, a basement membrane-associated protein mutated in Fraser syndrome, mediates both the initiation of the mammalian kidney and the integrity of renal glomeruli.

    Science.gov (United States)

    Pitera, Jolanta E; Scambler, Peter J; Woolf, Adrian S

    2008-12-15

    FRAS1 is mutated in some individuals with Fraser syndrome (FS) and the encoded protein is expressed in embryonic epidermal cells, localizing in their basement membrane (BM). Syndactyly and cryptophthalmos in FS are sequelae of skin fragility but the bases for associated kidney malformations are unclear. We demonstrate that Fras1 is expressed in the branching ureteric bud (UB), and that renal agenesis occurs in homozygous Fras1 null mutant blebbed (bl) mice on a C57BL6J background. In vivo, the bl/bl bud fails to invade metanephric mesenchyme which undergoes involution, events replicated in organ culture. The expression of glial cell line-derived neurotrophic factor and growth-differentiation factor 11 was defective in bl/bl renal primordia in vivo, whereas, in culture, the addition of either growth factor restored bud invasion into the mesenchyme. Mutant primordia also showed deficient expression of Hoxd11 and Six2 transcription factors, whereas the activity of bone morphogenetic protein 4, an anti-branching molecule, was upregulated. In wild types, Fras1 was also expressed by nascent nephrons. Foetal glomerular podocytes expressed Fras1 transcripts and Fras1 immunolocalized in a glomerular BM-like pattern. On a mixed background, bl mutants, and also compound mutants for bl and my, another bleb strain, sometimes survive into adulthood. These mice have two kidneys, which contain subsets of glomeruli with perturbed nephrin, podocin, integrin alpha3 and fibronectin expression. Thus, Fras1 protein coats branching UB epithelia and is strikingly upregulated in the nephron lineage after mesenchymal/epithelial transition. Fras1 deficiency causes defective interactions between the bud and mesenchyme, correlating with disturbed expression of key nephrogenic molecules. Furthermore, Fras1 may also be required for the formation of normal glomeruli.

  19. Fanconi Bickel Syndrome: Novel Mutations in GLUT 2 Gene Causing a Distinguished Form of Renal Tubular Acidosis in Two Unrelated Egyptian Families.

    Science.gov (United States)

    Al-Haggar, Mohammad; Sakamoto, Osamu; Shaltout, Ali; El-Hawary, Amany; Wahba, Yahya; Abdel-Hadi, Dina

    2011-01-01

    Background. Fanconi-Bickel syndrome (FBS) is an autosomal recessive disorder caused by defects in facilitative glucose transporter 2 (GLUT2 or SLC2A2) gene mapped on chromosome 3q26.1-26.3, that codes for the glucose transporter protein 2. Methods. Two unrelated Egyptian families having suspected cases of FBS were enrolled after taking a written informed consent; both had positive consanguinity, and index cases had evidences of proximal renal tubular defects with hepatomegaly; they were subjected to history taking, signs of rickets as well as anthropometric measurements. Laboratory workup included urinalysis, renal and liver function tests including fasting and postprandial blood sugar; serum calcium, phosphorus, alkaline phosphatase, sodium and potassium, lipid profile, and detailed blood gas. Imaging including bone survey and abdominal ultrasound, and liver biopsy were done to confirm diagnosis. Molecular analysis of the GLUT2 gene was done for DNA samples extracted from peripheral blood leukocyte. All coding sequences, including flanking introns in GLUT2 gene, were amplified using PCR followed by direct sequencing. Results. Two new mutations had been detected, one in each family, in exon 3 two bases (GA) were deleted (c.253 254delGA) and in exon 6 in the second family, G-to-C substitution at position-1 of the splicing acceptor site (c.776-1G>C or IVS5-1G>A). Conclusion. FBS is a rare disease due to mutation in GLUT2 gene; many mutations were reported, about half were novel mutations; yet none of these mutations is more frequent. A more extensive survey for the most frequent mutations among FBS has to be contemplated to allow for use of molecular screening tests like ARMS.

  20. Repeated renal infarction in native and transplanted kidneys due to left ventricular thrombus formation caused by antiphospholipid antibody syndrome.

    Science.gov (United States)

    Scully, Paul; Leckstroem, Daniel C; McGrath, Andrew; Chambers, John; Goldsmith, David J

    2013-01-01

    Antiphospholipid syndrome can be a feature of several underlying conditions, such as lupus, but it can also occur idiopathically. Diagnosis usually comes after investigation of recurrent venous or arterial thromboses, emboli, or hypertension/proteinuria where the kidney is involved and is usually confirmed by laboratory testing. We describe a case of a man with a myocardial infarction who developed mural thrombus in an akinetic left ventricular segment but then who recurrently embolized first to one of his native kidneys and then later to a transplanted kidney. Although the clinical behavior was typical of antiphospholipid syndrome, it took numerous laboratory assays over many years until finally the problem was confirmed and life-long warfarin therapy instituted.

  1. Problemas renales de la cirrosis Renal problems of cirrhosis

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    Alvaro García

    1992-02-01

    Full Text Available Presentamos una revisión actualizada y condensada acerca de los problemas renales más relevantes que ocurren en la cirrosis tales como las alteraciones en el manejo del sodio y del agua, el tratamiento de la ascitis y el edema y el enfoque de la falla renal que ocurre en esta enfermedad, es decir síndrome hepato-renal y necrosis tubular aguda.

    We present a condensed and updated review on the most common renal problems occurring in cirrhosis such as the handling of sodium and water, the treatment of ascites and edema and the approach to the renal failure that frequently takes place in this disease, namely hepato-renal syndrome and acute tubular necrosis.

  2. Epidermal basement membrane alpha 5(IV) expression in females with Alport syndrome and severity of renal disease.

    Science.gov (United States)

    Massella, Laura; Onetti Muda, Andrea; Faraggiana, Tullio; Bette, Cristiano; Renieri, Alessandra; Rizzoni, Gianfranco

    2003-11-01

    X-linked Alport syndrome is a progressive nephritis caused by mutations of the COL4A5 gene. This gene encodes the collagen alpha 5(IV) chain, which is abnormally distributed in the glomerular basement membrane (GBM) and epidermal basement membrane (EBM). It has been reported a negative correlation between alpha 5(IV) chain distribution in EBM and the degree of proteinuria in heterozygous females with Alport syndrome. In the present study, we evaluated the distribution of the alpha 5(IV) chain in the EBM and the degree of proteinuria in 22 females with X-linked Alport syndrome. The distribution of the cutaneous alpha 5(IV) chain was measured by a confocal laser microscope using an anti-alpha 5(IV) monoclonal antibody. The expression ratio of alpha 5(IV) distribution was quantified dividing the extension of the positive signal and the maximal extension of the specimen. Urinary protein excretion was expressed as urinary protein over urinary creatinine ratio. Proteinuria was present in five of the 22 patients. In two patients with proteinuria, alpha 5(IV)chain was normally distributed; in the remaining three, the expression ratio of alpha 5(IV)chain was 35%, 47%, and 48%. Of the 17 patients without proteinuria, two displayed a complete absence of the alpha 5(IV) chain in EBM, five displayed a normal staining, and the remaining 10 had an expression ratio between 18% and 65%. Our data suggest that there is no correlation between the severity of the glomerular involvement (expressed by proteinuria) and the staining of the alpha 5 chain in the EBM in females with X-linked Alport syndrome.

  3. Urofacial syndrome

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    Kamal F Akl

    2012-01-01

    Full Text Available The urofacial syndrome is characterized by functional obstructive uropathy asso-ciated with an inverted smile. The importance of the subject is that it sheds light, not only on the muscles of facial expression, but also on the inheritance of voiding disorders and lower urinary tract malformations. We report a 10-year-old-male patient who had the urofacial syndrome. Early diagnosis of the urofacial syndrome is important to avoid upper urinary tract damage and renal failure.

  4. Acute cardiac tamponade: an unusual cause of acute renal failure in a renal transplant recipient.

    Science.gov (United States)

    Nampoory, Naryanan; Gheith, Osama; Al-Otaibi, Torki; Halim, Medhat; Nair, Prasad; Said, Tarek; Mosaad, Ahmed; Al-Sayed, Zakareya; Alsayed, Ayman; Yagan, Jude

    2015-04-01

    We report a case of slow graft function in a renal transplant recipient caused by uremic acute pericardial effusion with tamponade. Urgent pericardiocentesis was done with an improvement in blood pressure, immediate diuresis, and quick recovery of renal function back to baseline. Pericardial tamponade should be included in consideration of causes of type 1 cardiorenal syndrome in renal transplant recipients.

  5. Association of genetic variants of ghrelin, leptin and UCP2 with malnutrition inflammation syndrome and survival in end-stage renal disease patients.

    Science.gov (United States)

    Sharma, Richa; Agrawal, Suraksha; Saxena, Anita; Pandey, Manmohan; Sharma, R K

    2013-11-01

    Malnutrition inflammation syndrome (MIS) is common among ESRD patients. In the present study, we have investigated the association of genetic markers associated with appetite and energy regulation with malnutrition inflammation syndrome among end-stage renal disease (ESRD) patients. Two hundred and fifty-seven patients on maintenance hemodialysis and 200 normal healthy controls were included in the study. Nutritional assessment was done by subjective global assessment scores (SGA). Genotyping of leptin-2548 G/A (rs7799039), ghrelin Leu72Met (rs696217-408 C/A), Arg51Gln (rs34911341-346 G/A) and uncoupling protein 2 (UCP2) 45 bp insertion deletion was done using PCR-RFLP. Levels of leptin and acyl ghrelin were assessed using ELISA. Leptin-2548 AA genotype was associated with twofold higher risk of disease susceptibility while UCP2 insertion-deletion heterozygotes showed protective effect. Ghrelin Gln51Gln and Met72Met genotype were associated with 3.4- and 2.5-fold higher disease susceptibility. The Met72 and Gln51 allele showed 3.3- and 2.1-fold higher susceptibility to malnutrition in severe SGA group. Further, the levels of acyl ghrelin were significantly less in severe category of malnutrition and in poor appetite group. On combined analysis, the group 2 (presence of 3-4 risk alleles) showed 1.5- and twofold higher susceptibility to disease and malnutrition, respectively. On docking analysis, it was observed that higher receptor binding energy was associated with the mutant form of ghrelin (Gln51). Moderate and severe SGA were associated with 2.2- and 4.1-fold higher death hazard. Our study suggests that ghrelin may be major marker contributing to susceptibility to MIS among ESRD patients.

  6. Analysis of effects of Prednisolone on nephritic syndrome with acute renal failure%氢化泼尼松治疗肾病综合征合并急性肾功能衰竭疗效分析

    Institute of Scientific and Technical Information of China (English)

    陈卫东; 常保超; 刘磊

    2008-01-01

    目的 观察肾病综合征合并急性肾功能衰竭的临床特点,比较氢化泼尼松与地塞米松治疗肾病综合征合并急性肾功能衰竭疗效分析.方法 以2005年6月至2007年11月本院收治的肾病综合征合并急性肾功能衰竭患者为研究对象,共42例;其中2005年6月至2006年12月共22例为对照组,急性期采用地塞米松静脉滴注治疗;2007年2月至2007年11月共20例为治疗组,急性期采用氢化泼尼松静脉滴注治疗.结果 氢化泼尼松治疗组少尿期持续时间及肾功能恢复时间均少于地塞米松治疗组,消化道症状等不良反应较对照组轻.结论 氢化泼尼松治疗肾病综合征合并急性肾功能衰竭与地塞米松相比,疗效较好,可缩短少尿期及肾功能恢复时间.%Objective To investigate the clinical characteristics of nephritic syndrome complicated with acute renal failure and to compare the effects of prednisolone with dexamethasone on the patietns with nephritic syndrome complicated with acute renal failure. Methods 42 patitents of nephritic syndrome complicated with acute renal failure were selected who were in our hospital from June,2005 to November,2007. They were divided into control group (n = 22), some of them in our hospital from June,2005 to December, 2006 and treated with Dexamethasone and experiment group (n = 20) and others in our hospital from February, 2007 to November, 2007 and treated with prednisolone. The therapeutic outcome of both groups were compared with each other. Resuits There were significant difference in duration of oliguria stage and renal function recovery between the two groups, the side-effects of digestive tract was lower in experiment patients. Conclusion The effect of prednisolone is better than dexamethasone on nephritic syndrome with acute renal failure, it can shorten the duration of oliguria stage and renal function recovery.

  7. Vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association with Mayer-Rokitansky-Küster-Hauser syndrome in co-occurrence: two case reports and a review of the literature.

    Science.gov (United States)

    Bjørsum-Meyer, Thomas; Herlin, Morten; Qvist, Niels; Petersen, Michael B

    2016-12-21

    The vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association and Mayer-Rokitansky-Küster-Hauser syndrome are rare conditions. We aimed to present two cases with the vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association and Mayer-Rokitansky-Küster-Hauser co-occurrence from our local surgical center and through a systematic literature search detect published cases. Furthermore, we aimed to collect existing knowledge in the embryopathogenesis and genetics in order to discuss a possible link between the vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association and Mayer-Rokitansky-Küster-Hauser syndrome. Our first case was a white girl delivered by caesarean section at 37 weeks of gestation; our second case was a white girl born at a gestational age of 40 weeks. A co-occurrence of vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association and Mayer-Rokitansky-Küster-Hauser syndrome was diagnosed in both cases. We performed a systematic literature search in PubMed ((VACTERL) OR (VATER)) AND ((MRKH) OR (Mayer-Rokitansky-Küster-Hauser) OR (mullerian agenesis) OR (mullerian aplasia) OR (MURCS)) without limitations. A similar search was performed in Embase and the Cochrane library. We added two cases from our local center. All cases (n = 9) presented with anal atresia and renal defect. Vertebral defects were present in eight patients. Rectovestibular fistula was confirmed in seven patients. Along with the uterovaginal agenesis, fallopian tube aplasia appeared in five of nine cases and in two cases ovarian involvement also existed. The co-occurrence of the vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal

  8. Hantavirus infection during a stay in a mountain hut in Northern Slovakia.

    Science.gov (United States)

    Zelena, Hana; Zvolankova, Vlasta; Zuchnicka, Jana; Liszkova, Katerina; Papa, Anna

    2011-03-01

    Hantaviruses in Europe cause human hemorrhagic fever with renal syndrome (HFRS) with various degree of severity. The most severe form is caused by the Dobrava/Belgrade virus (DOBV), associated with the rodent Apodemus flavicollis. During the last decade cases of infection caused by DOBV have been reported in Central Europe. The present study is a report on two Czech patients with severe HFRS who were infected during their stay in a mountain hut in Northern Slovakia. The two patients, combined with a third case observed in the same year in a nearby village in the Czech Republic, suggest that this region in Central Europe has to be considered as endemic for HFRS.

  9. OBSTETRIC RENAL FAILURE

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    Rajeshwari

    2015-11-01

    Full Text Available Renal failure in obstetrics is rare but important complication, associated with significant mortality and long term morbidity.1,2 It includes acute renal failure due to obstetrical complications or due to deterioration of existing renal disease. AIMS AND OBJECTIVES: To evaluate the etiology and outcome of renal failure in obstetric patients. METHODS: We prospectively analyzed 30 pregnant and puerperal women with acute renal failure or pre-existing renal disease developing renal failure during pregnancy between November 2007 to sep-2009. Patients who presented/developed ARF during the hospital stay were included in this study. RESULTS: Among 30 patients, mean age was 23 years and 33 years age group. 12 cases (40% patients were primigravidae and 9(30% patients were multigravidae and 9 cases (30% presented in post-partum period. Eighteen cases (60% with ARF were seen in third trimester, followed by in postpartum period 9 cases (30%. Most common contributing factors to ARF were Pre-eclampsia, eclampsia and HELLP syndrome 60%, sepsis 56.6%, post abortal ARF 10%. DIC 40%. Haemorrhage as the aetiology for ARF was present 46%, APH in 20% and PPH in 26.6%. The type of ARF was renal in (63% and prerenal (36%; Oliguric seen in 10 patients (33% and high mortality (30%. Among the 20 pregnant patients with ARF, The average period of gestation was 33±2 weeks (30 -36 weeks, 5 cases (25% presented with intrauterine fetal demise and 18 cases (66% had preterm vaginal delivery and 2 cases (10% had induced abortion. And the average birth weight was 2±0.5 kg (1.5 kg. Eight cases (26% required dialysis. 80% of patients recovered completely of renal functions. 63% patients recovered without renal replacement therapy whereas 17% required dialysis. the maternal mortality was 20%, the main reason for mortality was septic shock and multi organ dysfunction (66%. CONCLUSION: ARF related pregnancy was seen commonly in the primigravidae and in the third trimester, the most

  10. Uremic Restless Legs Syndrome (RLS and Sleep Quality in Patients With End-Stage Renal Disease on Hemodialysis: Potential Role of Homocysteine and Parathyroid Hormone

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    Katrin Gade

    2013-10-01

    Full Text Available Background: The aetiology of uremic restless legs syndrome (RLS remains unclear. Our research investigated whether an elevated plasma concentration of the excitatory amino acid homocysteine might be associated with RLS occurrence in patients with chronic renal insufficiency on hemodialysis. Methods: Total plasma homocysteine as well as creatinine, urea, folate, parathyroid hormone, hemoglobin, iron, ferritin, phosphate, calcium, magnesium, and albumin levels were compared between 26 RLS-affected (RLSpos and 26 non-affected (RLSneg patients on chronic hemodialysis. We further compared subjective sleep quality between RLSpos and RLSneg patients using the Pittsburgh-Sleep-Quality-Index and investigated possible relationships between laboratory parameters and sleep quality. Results: Taking individual albumin concentrations into account, a significant positive correlation between total plasma homocysteine and RLS occurrence was observed (r= 0.246; p=0.045. Sleep quality was significantly more reduced in RLSpos compared to RLSneg patients and RLS severity correlated positively with impairment of sleep quality. Bad sleep quality in all patients was associated with higher concentrations of parathyroid hormone. Conclusion: Our results suggest a possible aetiological role of homocysteine in uremic RLS. They confirm that uremic RLS is an important factor causing sleep impairment in patients on hemodialysis. Higher parathyroid hormone levels might also be associated with bad sleep quality in these patients.

  11. Restless legs syndrome (RLS) in anemic patients with congestive heart failure and chronic renal failure: lack of effect of anemia treatment.

    Science.gov (United States)

    Zilberman, M; Silverberg, D S; Schwartz, D; Oksenberg, A

    2010-08-20

    To assess the prevalence of Restless Legs Syndrome (RLS) in anemic patients with Congestive Heart Failure (CHF) and Chronic Renal Failure (CRF) and to evaluate the effect of anemia treatment on RLS. 38 anemic CHF-CRF patients were treated with subcutaneous Erythropoietin (EPO) and intravenous (IV) iron over 1 year. They were questioned initially and at 3 months post treatment about symptoms of RLS according to standard criteria. They were also contacted by telephone about RLS symptoms 12 months after onset of anemia treatment. RLS was found in 15 (39.5%) of the 38 patients. In 10 (66.7%) patients it was present at least 6 days a week. The prevalence of the RLS initially was not related to Hb, to serum iron or % Transferrin Saturation. Diabetes and lower serum ferritin were more common in the RLS group (pprevalence and frequency of RLS complaints was similar to what it had been initially. RLS is common and often undiagnosed and untreated in anemic CHF-CRF patients. Unfortunately, successful treatment of anemia with EPO and IV iron did not improve this condition. Copyright (c) 2008 Elsevier Ireland Ltd. All rights reserved.

  12. Tenofovir-related nephrotoxicity in human immunodeficiency virus-infected patients: three cases of renal failure, Fanconi syndrome, and nephrogenic diabetes insipidus.

    Science.gov (United States)

    Karras, Alexandre; Lafaurie, Matthieu; Furco, André; Bourgarit, Anne; Droz, Dominique; Sereni, Daniel; Legendre, Christophe; Martinez, Frank; Molina, Jean-Michel

    2003-04-15

    We report 3 cases of renal toxicity associated with use of the antiviral agent tenofovir. Renal failure, proximal tubular dysfunction, and nephrogenic diabetes insipidus were observed, and, in 2 cases, renal biopsy revealed severe tubular necrosis with characteristic nuclear changes. Patients receiving tenofovir must be monitored closely for early signs of tubulopathy (glycosuria, acidosis, mild increase in the plasma creatinine level, and proteinuria).

  13. Acute renal dysfunction in liver diseases

    Institute of Scientific and Technical Information of China (English)

    2007-01-01

    Renal dysfunction is common in liver diseases, either as part of multiorgan involvement in acute illness or secondary to advanced liver disease. The presence of renal impairment in both groups is a poor prognostic indicator. Renal failure is often multifactorial and can present as pre-renal or intrinsic renal dysfunction. Obstructive or post renal dysfunction only rarely complicates liver disease. Hepatorenal syndrome (MRS) is a unique form of renal failure associated with advanced liver disease or cirrhosis, and is characterized by functional renal impairment without significant changes in renal histology. Irrespective of the type of renal failure, renal hypoperfusion is the central pathogenetic mechanism, due either to reduced perfusion pressure or increased renal vascular resistance. Volume expansion, avoidance of precipitating factors and treatment of underlying liver disease constitute the mainstay of therapy to prevent and reverse renal impairment. Splanchnic vasoconstrictor agents, such as terlipressin, along with volume expansion, and early placement of transjugular intrahepatic portosystemic shunt (TIPS) may be effective in improving renal function in HRS. Continuous renal replacement therapy (CRRT) and molecular absorbent recirculating system (MARS) in selected patients may be life saving while awaiting liver transplantation.

  14. Repeated renal infarction in native and transplanted kidneys due to left ventricular thrombus formation caused by antiphospholipid antibody syndrome

    Directory of Open Access Journals (Sweden)

    Scully P

    2013-01-01

    Full Text Available Paul Scully,1 Daniel C Leckstroem,1 Andrew McGrath,2 John Chambers,3 David J Goldsmith11Nephrology Department, 2Radiology Department, 3Cardiology Department, King's Health Partners, Academic Health Sciences Centre, London, United KingdomAbstract: Antiphospholipid syndrome can be a feature of several underlying conditions, such as lupus, but it can also occur idiopathically. Diagnosis usually comes after investigation of recurrent venous or arterial thromboses, emboli, or hypertension/proteinuria where the kidney is involved and is usually confirmed by laboratory testing. We describe a case of a man with a myocardial infarction who developed mural thrombus in an akinetic left ventricular segment but then who recurrently embolized first to one of his native kidneys and then later to a transplanted kidney. Although the clinical behavior was typical of antiphospholipid syndrome, it took numerous laboratory assays over many years until finally the problem was confirmed and life-long warfarin therapy instituted.Keywords: antiphospholipid therapy, emboli, infarction, kidney, kidney transplant

  15. Renal Osteodystrophy

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    Aynur Metin Terzibaşoğlu

    2004-12-01

    Full Text Available Chronic renal insufficiency is a functional definition which is characterized by irreversible and progressive decreasing in renal functions. This impairment is in collaboration with glomeruler filtration rate and serum creatinine levels. Besides this, different grades of bone metabolism disorders develop in chronic renal insufficiency. Pathologic changes in bone tissue due to loss of renal paranchyme is interrelated with calcium, phosphorus vitamine-D and parathyroid hormone. Clinically we can see high turnover bone disease, low turnover bone disease, osteomalacia, osteosclerosis and osteoporosis in renal osteodystropy. In this article we aimed to review pathology of bone metabolism disorders due to chronic renal insufficiency, clinic aspects and treatment approaches briefly.

  16. Dialysis Disequilibrium Syndrome: Brain death following hemodialysis for metabolic acidosis and acute renal failure – A case report

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    Bagshaw Sean M

    2004-08-01

    Full Text Available Abstract Background Dialysis disequilibrium syndrome (DDS is the clinical phenomenon of acute neurologic symptoms attributed to cerebral edema that occurs during or following intermittent hemodialysis (HD. We describe a case of DDS-induced cerebral edema that resulted in irreversible brain injury and death following acute HD and review the relevant literature of the association of DDS and HD. Case Presentation A 22-year-old male with obstructive uropathy presented to hospital with severe sepsis syndrome secondary to pneumonia. Laboratory investigations included a pH of 6.95, PaCO2 10 mmHg, HCO3 2 mmol/L, serum sodium 132 mmol/L, serum osmolality 330 mosmol/kg, and urea 130 mg/dL (46.7 mmol/L. Diagnostic imaging demonstrated multifocal pneumonia, bilateral hydronephrosis and bladder wall thickening. During HD the patient became progressively obtunded. Repeat laboratory investigations showed pH 7.36, HCO3 19 mmol/L, potassium 1.8 mmol/L, and urea 38.4 mg/dL (13.7 mmol/L (urea-reduction-ratio 71%. Following HD, spontaneous movements were absent with no pupillary or brainstem reflexes. Head CT-scan showed diffuse cerebral edema with effacement of basal cisterns and generalized loss of gray-white differentiation. Brain death was declared. Conclusions Death is a rare consequence of DDS in adults following HD. Several features may have predisposed this patient to DDS including: central nervous system adaptations from chronic kidney disease with efficient serum urea removal and correction of serum hyperosmolality; severe cerebral intracellular acidosis; relative hypercapnea; and post-HD hemodynamic instability with compounded cerebral ischemia.

  17. Research progress of obstructive sleep apnea-hypopnea syndrome on renal indury%阻塞性睡眠呼吸暂停低通气综合征致肾脏损伤的研究进展

    Institute of Scientific and Technical Information of China (English)

    林雪娇; 康健

    2011-01-01

    阻塞性睡眠呼吸暂停低通气综合征(obstructive sleep apnea-hypopnea syndrome,OSAHS)可导致肾脏损伤.OSAHS对肾脏的影响可表现为肾小球滤过率降低、肾小球超滤过、蛋白尿,夜尿增多、尿电解质排泄增多,血管活性物质分泌增多及促红细胞生成素分泌增多.组织学改变可表现为肾小球肥大、局灶节段性肾小球硬化、近曲小管上皮细胞变性.持续气道正压通气治疗可延缓OSAHS的肾脏损伤.现就OSAHS对肾脏的影响作一综述.%Obstructive sleep apnea-hypopnea syndrome (OSAHS)can lead to renal indury. The impact of OSAHS on kidneys involves reduced glomerular filtration rate, glomerular hyperfiltration,proteinuria, increased nocturia. increased excretion of urinary electrolytes, increased secretion of vasoactive substances and EPO. Renal histology shows glomerulomegaly, focal segmental glomerulosclerosis and the degeneration of proximal tubular epithelial cells. CPAP treatment can ameliorate the renal indury. This article reviews on the impact of OSAHS on kidneys.

  18. Genetically modified bone marrow continuously supplies anti-inflammatory cells and suppresses renal injury in mouse Goodpasture syndrome.

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    Yokoo, T; Ohashi, T; Utsunomiya, Y; Shen, J S; Hisada, Y; Eto, Y; Kawamura, T; Hosoya, T

    2001-07-01

    In chronic inflammation, macrophages and neutrophils, which are derived from bone marrow, play a pivotal role. Therefore, reconstitution of bone marrow with anti-inflammatory stem cells may modify inflammation. In this study, transplantation-based gene therapy was applied to glomerular inflammation for a long-lasting suppression of the glomerular damage seen in chronic nephritis. Bone marrow cells were harvested from male donor mice, which had received 5-fluorouracil 3 days previously, and transduced with an interleukin 1 (IL-1) receptor antagonist (IL-1Ra) or a mock gene using a retrovirus vector. After confirmation that transduced cells possessed the transgene at approximately 0.7 copies per cell and secreted recombinant IL-1Ra, these cells were infused into sublethally irradiated (6 Gy) female recipients once daily for 4 consecutive days. These female recipient mice had the male Y antigen in bone marrow, liver, and spleen, and 10% to 20% of their spleen cells possessed the transgene even 8 weeks after transplantation. Glomerulonephritis was then induced in these mice. Renal function and histology were retarded in the mice whose bone marrow was reconstituted with IL-1Ra-producing cells compared with mock transduced cells. In situ hybridization using a Y painting probe revealed that transplanted donor cells were recruited into the glomerulus upon induction of nephritis, suggesting therapeutic effects were channeled through the secretion of IL-1Ra from these cells. Furthermore, the survival rate after a second challenge with nephrotoxic antibody was significantly improved in the IL-1Ra chimera. These results suggest that reconstitution of bone marrow for continuous supply of anti-inflammatory cells may be a useful strategy for the treatment of chronic inflammation.

  19. [Renal abnormalities in ankylosing spondylitis].

    Science.gov (United States)

    Samia, Barbouch; Hazgui, Faiçal; Abdelghani, Khaoula Ben; Hamida, Fethi Ben; Goucha, Rym; Hedri, Hafedh; Taarit, Chokri Ben; Maiz, Hedi Ben; Kheder, Adel

    2012-07-01

    We will study the epidemiologic, clinical, biological, therapeutic, prognostic characteristics and predictive factors of development of nephropathy in ankylosing spondylitis patients. We retrospectively reviewed the medical record of 32 cases with renal involvement among 212 cases of ankylosing spondylitis followed in our service during the period spread out between 1978 and 2006. The renal involvement occurred in all patients a mean of 12 years after the clinical onset of the rheumatic disease. Thirty-two patients presented one or more signs of renal involvement: microscopic hematuria in 22 patients, proteinuria in 23 patients, nephrotic syndrome in 11 patients and decreased renal function in 24 patients (75%). Secondary renal amyloidosis (13 patients), which corresponds to a prevalence of 6,1% and tubulointerstitial nephropathy (7 patients) were the most common cause of renal involvement in ankylosing spondylitis followed by IgA nephropathy (4 patients). Seventeen patients evolved to the end stage renal disease after an average time of 29.8 ± 46 months. The average follow-up of the patients was 4,4 years. By comparing the 32 patients presenting a SPA and renal disease to 88 with SPA and without nephropathy, we detected the predictive factors of occurred of nephropathy: tobacco, intense inflammatory syndrome, sacroileite stage 3 or 4 and presence of column bamboo. The finding of 75% of the patients presented a renal failure at the time of the diagnosis of renal involvement suggests that evidence of renal abnormality involvement should be actively sought in this disease. Copyright © 2011 Association Société de néphrologie. Published by Elsevier SAS. All rights reserved.

  20. Síndrome de lisis tumoral en un paciente con cáncer de riñón tratado con sunitinib Tumor lysis syndrome in a patient with a renal carcinoma treated with sunitinib

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    Ezequiel Rodríguez-Reimúndes

    2011-04-01

    Full Text Available El síndrome de lisis tumoral (SLT es un trastorno metabólico que ocurre como consecuencia de una destrucción celular masiva. Se caracteriza por la presencia de hiperuricemia, hiperfosfatemia, hipocalcemia e hiperkalemia, y predispone al desarrollo de insuficiencia renal aguda. En la mayoría de los casos el SLT ocurre luego de instaurarse un tratamiento antitumoral y es más frecuente en tumores de alto grado de malignidad y alta sensibilidad a la quimioterapia. Presentamos el caso de un paciente con diagnóstico de cáncer de riñón recidivado que presenta un SLT e insuficiencia renal aguda luego de iniciar tratamiento con sunitinib.The tumor mor lysis syndrome (TLS is a metabolic disorder resulting from a massive tumor breakdown. It is characterized by hyperuricemia, hyperphosphatemia, hypocalcemia and hyperkalemia and predisposes to acute renal failure. TLS usually occurs after the initiation of cytotoxic therapy and is more frequent in the case of neoplasias with a high proliferative rate or that are highly chemo-sensitive. We report the case of a man with a recurrent kidney cancer who presented with a TLS and acute renal failure after initiation of sunitinib.