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Sample records for adult polycystic kidney

  1. Polycystic kidney disease

    Science.gov (United States)

    Cysts - kidneys; Kidney - polycystic; Autosomal dominant polycystic kidney disease; ADPKD ... Polycystic kidney disease (PKD) is passed down through families (inherited). The 2 inherited forms of PKD are autosomal dominant ...

  2. Autopsy Report with Clinical and Pathophysiologic Discussion of Autosomal Dominant Adult Polycystic Kidney Disease

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    Anup Hazra

    2014-01-01

    Full Text Available The average weight of a kidney is approximately 135 gm, measuring on average 10 × 6 × 4 cm. In hereditary conditions, autosomal dominant and autosomal recessive polycystic kidney disease, the shape, size, and the weight can be significantly abnormal, causing progressive renal failure, often necessitating dialysis or renal transplant for survival. We report a case of adult polycystic kidney disease in a 50-year-old female without a family history, who died of complications of the disease which included accelerated hypertension, and renal and cardiac failure.

  3. Reproductive issues for adults with autosomal dominant polycystic kidney disease.

    Science.gov (United States)

    Vora, Neeta; Perrone, Ronald; Bianchi, Diana W

    2008-02-01

    Autosomal dominant polycystic kidney disease (ADPKD) is a common disorder. However, the consequences of ADPKD on male and female reproductive health are not widely known. Several abnormalities are found in men with ADPKD, including necrospermia, immotile sperm, seminal vesicle cysts, and ejaculatory duct cysts. Female fertility is not affected. Affected women with ADPKD and normal renal function have a high rate of successful uncomplicated pregnancies. Pregnant women with ADPKD with compromised kidney function should be monitored carefully for the development of hypertension and preeclampsia. Their fetuses should be examined sonographically for signs of uteroplacental insufficiency, such as intrauterine growth restriction and oligohydramnios. The diagnosis of ADPKD should always be considered when prenatal sonographic findings of hyperechogenic enlarged kidneys are found. In this setting, a family history and renal sonogram of both parents is indicated. Sequencing of the PKD1 and PKD2 genes is available and can be used for both prenatal and preimplantation genetic diagnosis. We review in detail these topics to familiarize physicians taking care of patients with ADPKD with the reproductive issues that confront affected individuals. PMID:18215709

  4. Polycystic Kidney Disease

    Directory of Open Access Journals (Sweden)

    Pedro Cena Rivero

    2016-02-01

    Full Text Available The Polycystic Kidney Disease (PKD is a genetic disease which is characterized by the gradual emergence of cystic lesions in the kidneys, which replace the renal parenchyma causing deterioration of its function to stage 5. The PKD is one of the causes of Chronic Kidney Disease on renal replacement therapy (RRT. The Polycystic Kidney Disease has two patterns of inheritance: autosomal dominant pattern and the autosomal recessive pattern. The dominant form is more common but less severe than autosomal recessive form. PKD is known that is caused by mutations in several loci of the human genome. The autosomal dominant form can be caused by mutations in two different genes (PKD1 and PKD2, unlike the autosomal recessive form only has a causal gene (PKHD1. At present the international scientific community efforts toward deeper understanding of the pathophysiology of this entity for the purpose of developing therapeutic alternatives that avoid the appearance of cysts or progression of those already in place. The aim is to systematize the available scientific knowledge about Polycystic Kidney Disease and provide a source of consultation update on clinical characteristics and therapeutic options for patients with PKD

  5. Trichosporon loubieri Infection in a Patient with Adult Polycystic Kidney Disease

    OpenAIRE

    Padhye, Arvind A.; Verghese, Susan; Ravichandran, P.; Balamurugan, G.; Hall, Leslie; Padmaja, P.; Fernandez, Maria C.

    2003-01-01

    A 45-year-old man from Nepal with a 13-year history of polycystic kidney disease was diagnosed as suffering from chronic renal failure with end-stage renal disease. After receiving empirical antituberculosis treatment, he was treated with broad-spectrum antibiotics. A left nephrectomy was performed, and after 4 months, he received a kidney transplant. The left kidney was grossly enlarged, with multiple cystic spaces filled with blackish material. Histologic examination of the excised left kid...

  6. A Rare Case of an Intraductal Papillary Mucinous Neoplasm of Pancreas Fistulizing Into Duodenum With Adult Polycystic Kidney Disease

    Science.gov (United States)

    Pipaliya, Nirav; Rathi, Chetan; Parikh, Pathik; Patel, Ruchir; Ingle, Meghraj; Sawant, Prabha

    2015-01-01

    Intraductal papillary mucinous neoplasm (IPMN) accounts for 20-50% of all cystic neoplasms of the pancreas. Rarely, IPMN, whether benign or malignant, can fistulize into adjacent organs like duodenum, stomach or common bile duct. IPMN can be associated with other diseases like Peutz-Jeghers syndrome and familial adenomatous polyposis. Association with adult polycystic kidney disease (ADPKD) is extremely rare. We report a case of a 60-year-old male with a large IPMN in the head of the pancreas diagnosed by magnetic resonance imaging, endoscopic ultrasound and cyst fluid analysis. It was complicated by fistula formation into the second part of the duodenum. Patient was simultaneously having adult polycystic kidney disease. There is only one case report of uncomplicated IPMN with ADPKD in the literature so far. And even rarer, there is no any case report of fistulizing IPMN with ADPKD reported so far, to the best of our knowledge.

  7. Organic depression and Terson′s syndrome in adult polycystic kidney disease: Case report and review of literature

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    Ranganath R Kulkarni

    2014-01-01

    Full Text Available Depressive symptoms are common in neurological diseases, at times posing dilemma in organic or functional origin. Cerebrovascular disease may predispose, precipitate, or perpetuate some geriatric depressive syndromes that resemble primary depressions both clinically and therapeutically in about half of the patients following acute stroke. Terson′s syndrome is the direct occurrence of vitreous hemorrhage following subarachnoid/subdural hemorrhage, often overlooked in the acute setting. Autosomal dominant (adult polycystic kidney disease may be associated with berry aneurysms and hypertension, and may lead to intracranial bleeds. We report an unusual case of organic depression and Terson′s syndrome in a 50-year-old female with polycystic kidney disease and hypertension, following anterior communicating artery aneurysmal subarachnoid bleed with bilateral subdural extension. Management included anti-hypertensives, antiepileptics, neodymium: YAG laser photocoagulation, and aneurysmal clipping.

  8. Polycystic Kidney Disease

    Science.gov (United States)

    ... Research Training & Career Development Grant programs for students, postdocs, and faculty Research at NIDDK Labs, faculty, and ... diabetes, digestive and liver diseases, kidney diseases, weight control and nutrition, urologic diseases, endocrine and metabolic diseases, ...

  9. [Polycystic kidney disease: from genetics to dialysis].

    Science.gov (United States)

    Ortiz Arduan, Alberto

    2012-01-01

    Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic cause of end stage renal disease. In addition, end-stage renal disease is complicated by acquired polycystic kidney disease. Recent advances in our understanding of the pathogenesis of ADPKD have identified the primary cilium as key to cystogenesis, and have defined the molecular, cellular and tissue pathogenesis of the disease, leading to the design of clinical trials that may ultimately lead to effective therapy of the disease. In 2012 a key trial has shown that blockade of vasopressin receptors with tolvaptan slows the rate of cyst growth and may slow the loss of renal function. PMID:24298871

  10. Polycystic kidney disease: The cadence of kidney growth in ADPKD.

    Science.gov (United States)

    Chapman, Arlene

    2009-06-01

    Autosomal-dominant polycystic kidney disease is characterized by the development and expansion of cysts, which ultimately results in kidney failure. The rate of this expansion can now be quantified within a short period of time, which has implications for assessing the risk of renal failure in affected patients. PMID:19474826

  11. Sirolimus and kidney growth in autosomal dominant polycystic kidney disease

    OpenAIRE

    Serra, A. L.; Poster, D.; Kistler, A.D.; Krauer, F.; Raina, S; Young, J.; Rentsch, K M; Spanaus, K S; Senn, O; Kristanto, P; Scheffel, H.; Weishaupt, D; Wüthrich, R.P.

    2010-01-01

    BACKGROUND: In autosomal dominant polycystic kidney disease (ADPKD), aberrant activation of the mammalian target of rapamycin (mTOR) pathway is associated with progressive kidney enlargement. The drug sirolimus suppresses mTOR signaling. METHODS: In this 18-month, open-label, randomized, controlled trial, we sought to determine whether sirolimus halts the growth in kidney volume among patients with ADPKD. We randomly assigned 100 patients between the ages of 18 and 40 years to receive either ...

  12. Kidney volume and function in autosomal dominant polycystic kidney disease

    OpenAIRE

    Higashihara, Eiji; Nutahara, Kikuo; Okegawa, Takatsugu; Shishido, Toshihide; Tanbo, Mitsuhiro; Kobayasi, Kuninori; Nitadori, Toshiaki

    2013-01-01

    Background The significance of total kidney volume (TKV) as a biomarker of kidney function in autosomal dominant polycystic kidney disease (ADPKD) is controversial and has been reappraised. Methods Between 2007 and 2012, 64 patients were followed with a mean 39.7-month observation period. TKV measurements by magnetic resonance imaging and estimation of renal function with estimated glomerular filtration rate (eGFR) using the Modification of Diet in Renal Disease equation and 24-h urine creati...

  13. Acute Kidney Injury due to Crescentic Glomerulonephritis in a Patient with Polycystic Kidney Disease

    OpenAIRE

    Maggard, Reuben; Makary, Raafat; Monteiro, Carmela l.; James, Leighton R.

    2013-01-01

    Polycystic kidney disease is an inherited condition, characterized by the development of cysts in the kidney, as well as in other organs. Patients with polycystic kidney can suffer from the same causes of acute kidney injury as the general population. Nephritic syndrome is an uncommon cause of acute kidney injury in the general population and less common in patients with polycystic kidney disease. We report the second case of crescentic glomerulonephritis, causing acute kidney injury, in a pa...

  14. Two Cases of Polycystic Kidneys in Two Siblings

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    S.D. Kamyab

    1976-07-01

    Full Text Available Polycystic disease of th e kidneys is a genetalized lesion o f charact erist ic clinico-pathological enti ty. It has two c1in cial fo rms: adult and infantile . The adult type is transmitted as a dominan t disease where the latter is a recessive trait. The infantile form had two pathological patterns, Form "A" in which the kidney is large and spo ngy , of normal shape and the cyst s are numerous. Microscopically the co nnective tissue is not increased. The cysts are of eq ual size and shape. The ncph rons are not reduced . In th e form "B" t he kidney may not have a normal shape and is not as large as the form "A" . Microscopica ll y the connect ive t issue is increased intensively. The cysts are of spherical shape and different sizes. The nephrons are reduced in number.

  15. Drug discovery for polycystic kidney disease

    Institute of Scientific and Technical Information of China (English)

    Ying SUN; Hong ZHOU; Bao-xue YANG

    2011-01-01

    In polycystic kidney disease (PKD), a most common human genetic diseases, fluid-filled cysts displace normal renal tubules and cause end-stage renal failure. PKD is a serious and costly disorder. There is no available therapy that prevents or slows down the cystogenesis and cyst expansion in PKD. Numerous efforts have been made to find drug targets and the candidate drugs to treat PKD. Recent studies have defined the mechanisms underlying PKD and new therapies directed toward them. In this review article, we summarize the pathogenesis of PKD, possible drug targets, available PKD models for screening and evaluating new drugs as well as candidate drugs that are being developed.

  16. Polycystic kidney disease in a Chartreux cat.

    Science.gov (United States)

    Volta, Antonella; Manfredi, Sabrina; Gnudi, Giacomo; Gelati, Aldo; Bertoni, Giorgio

    2010-02-01

    Polycystic kidney disease (PKD) is one of the most common genetic diseases in cats. It has been widely described in Persians and Persian-related cats and sporadically in other breeds. The purpose of the present paper is to describe the first reported case of PKD in a 12-year-old female Chartreux cat. The cat was referred with polyuria and polydipsia and enlarged and irregular kidneys at palpation. Multiple renal cysts and a single liver cyst were identified by ultrasound and the inherited pattern was confirmed by genetic test (polymerase chain reaction/restriction fragment length polymorphism (PCR/RFLP) assay). Chartreux cats should be included in the screening programme of PKD, and PKD should be always considered as a possible cause of chronic renal failure in this breed. PMID:19716738

  17. Polycystic kidney disease in a Chartreux cat.

    Science.gov (United States)

    Volta, Antonella; Manfredi, Sabrina; Gnudi, Giacomo; Gelati, Aldo; Bertoni, Giorgio

    2010-02-01

    Polycystic kidney disease (PKD) is one of the most common genetic diseases in cats. It has been widely described in Persians and Persian-related cats and sporadically in other breeds. The purpose of the present paper is to describe the first reported case of PKD in a 12-year-old female Chartreux cat. The cat was referred with polyuria and polydipsia and enlarged and irregular kidneys at palpation. Multiple renal cysts and a single liver cyst were identified by ultrasound and the inherited pattern was confirmed by genetic test (polymerase chain reaction/restriction fragment length polymorphism (PCR/RFLP) assay). Chartreux cats should be included in the screening programme of PKD, and PKD should be always considered as a possible cause of chronic renal failure in this breed.

  18. Why kidneys fail in autosomal dominant polycystic kidney disease.

    Science.gov (United States)

    Grantham, Jared J; Mulamalla, Sumanth; Swenson-Fields, Katherine I

    2011-10-01

    The weight of evidence gathered from studies in humans with hereditary polycystic kidney disease (PKD)1 and PKD2 disorders, as well as from experimental animal models, indicates that cysts are primarily responsible for the decline in glomerular filtration rate that occurs fairly late in the course of the disease. The processes underlying this decline include anatomic disruption of glomerular filtration and urinary concentration mechanisms on a massive scale, coupled with compression and obstruction by cysts of adjacent nephrons in the cortex, medulla and papilla. Cysts prevent the drainage of urine from upstream tributaries, which leads to tubule atrophy and loss of functioning kidney parenchyma by mechanisms similar to those found in ureteral obstruction. Cyst-derived chemokines, cytokines and growth factors result in a progression to fibrosis that is comparable with the development of other progressive end-stage renal diseases. Treatment of renal cystic disorders early enough to prevent or reduce cyst formation or slow cyst growth, before the secondary changes become widespread, is a reasonable strategy to prolong the useful function of kidneys in patients with autosomal dominant polycystic kidney disease. PMID:21862990

  19. Pathogenesis and treatment of hypertension in polycystic kidney disease

    NARCIS (Netherlands)

    Neumann, J; Ligtenberg, G; Klein, IHHT; Blankestijn, PJ

    2002-01-01

    Purpose of review Hypertension is common in patients with autosomal dominant polycystic kidney disease. It may contribute to cardiovascular risk and to progression of renal failure. Recent findings Apart from fluid overload and renin activation, hypertensive patients with autosomal dominant polycyst

  20. In vitro function of cyst epithelium from human polycystic kidney.

    OpenAIRE

    Perrone, R D

    1985-01-01

    It is thought that cysts in polycystic kidneys originate from nephron segments and function in a manner similar to the segment or origin. The indirect evidence for this derives from studies of microanatomy and cyst fluid composition. Cysts with low Na+ have been classified as distal, whereas cysts with high Na+ have been classified as proximal. In order to directly determine the transport characteristics of cyst epithelium, cysts from a human polycystic kidney were studied in vitro using Ussi...

  1. Tolvaptan in patients with autosomal dominant polycystic kidney disease

    OpenAIRE

    Torres, Vicente E.; Chapman, Arlene B.; Devuyst, Olivier; Ron T Gansevoort; Grantham, Jared J.; Higashihara, Eiji; Perrone, Ronald D.; Krasa, Holly B.; Ouyang, John; Czerwiec, Frank S.

    2012-01-01

    BACKGROUND: The course of autosomal dominant polycystic kidney disease (ADPKD) is often associated with pain, hypertension, and kidney failure. Preclinical studies indicated that vasopressin V(2)-receptor antagonists inhibit cyst growth and slow the decline of kidney function. METHODS: In this phase 3, multicenter, double-blind, placebo-controlled, 3-year trial, we randomly assigned 1445 patients, 18 to 50 years of age, who had ADPKD with a total kidney volume of 750 ml or more and an estima...

  2. Recent advances in autosomal-dominant polycystic kidney disease.

    Science.gov (United States)

    Rangan, G K; Tchan, M C; Tong, A; Wong, A T Y; Nankivell, B J

    2016-08-01

    Autosomal-dominant polycystic kidney disease (ADPKD) is the most common genetic renal disease in adults, affecting one in every 1000 Australians. It is caused by loss-of-function heterozygous mutations in either PKD1 or PKD2 , which encode the proteins, polycystin-1 and polycystin-2 respectively. The disease hallmark is the development of hundreds of microscopic fluid-filled cysts in the kidney during early childhood, which grow exponentially and continuously through life at varying rates (between 2% and 10% per year), causing loss of normal renal tissue and up to a 50% lifetime risk of dialysis-dependent kidney failure. Other systemic complications include hypertensive cardiac disease, hepatic cysts, intracranial aneurysms, diverticular disease and hernias. Over the last two decades, advances in the genetics and pathogenesis of this disease have led to novel treatments that reduce the rate of renal cyst growth and may potentially delay the onset of kidney failure. New evidence indicates that conventional therapies (such as angiotensin inhibitors and statins) have mild attenuating effects on renal cyst growth and that systemic levels of vasopressin are critical for promoting renal cyst growth in the postnatal period. Identifying and integrating patient-centred perspectives in clinical trials is also being advocated. This review will provide an update on recent advances in the clinical management of ADPKD. PMID:27553994

  3. Putative roles of cilia in polycystic kidney disease.

    Science.gov (United States)

    Winyard, Paul; Jenkins, Dagan

    2011-10-01

    The last 10 years has witnessed an explosion in research into roles of cilia in cystic renal disease. Cilia are membrane-enclosed finger-like projections from the cell, usually on the apical surface or facing into a lumen, duct or airway. Ten years ago, the major recognised functions related to classical "9+2" cilia in the respiratory and reproductive tracts, where co-ordinated beating clears secretions and assists fertilisation respectively. Primary cilia, which have a "9+0" arrangement lacking the central microtubules, were anatomical curiosities but several lines of evidence have implicated them in both true polycystic kidney disease and other cystic renal conditions: ranging from the homology between Caenorhabditis elegans proteins expressed on sensory cilia to mammalian polycystic kidney disease (PKD) 1 and 2 proteins, through the discovery that orpk cystic mice have structurally abnormal cilia to numerous recent studies wherein expression of nearly all cyst-associated proteins has been reported in the cilia or its basal body. Functional studies implicate primary cilia in mechanosensation, photoreception and chemosensation but it is the first of these which appears most important in polycystic kidney disease: in the simplest model, fluid flow across the apical surface of renal cells bends the cilia and induces calcium influx, and this is perturbed in polycystic kidney disease. Downstream effects include changes in cell differentiation and polarity. Pathways such as hedgehog and Wnt signalling may also be regulated by cilia. These data support important roles for cilia in the pathogenesis of cystic kidney diseases but one must not forget that the classic polycystic kidney disease proteins are expressed in several other locations where they may have equally important roles, such as in cell-cell and cell-matrix interactions, whilst it is not just aberrant cilia signalling that can lead to de-differentiation, loss of polarity and other characteristic features of

  4. Molecular and cellular pathogenesis of autosomal dominant polycystic kidney disease

    Directory of Open Access Journals (Sweden)

    A.P. Bastos

    2011-07-01

    Full Text Available Autosomal dominant polycystic kidney disease (ADPKD is one of the most common human life-threatening monogenic disorders. The disease is characterized by bilateral, progressive renal cystogenesis and cyst and kidney enlargement, often leading to end-stage renal disease, and may include extrarenal manifestations. ADPKD is caused by mutation in one of two genes, PKD1 and PKD2, which encode polycystin-1 (PC1 and polycystin-2 (PC2, respectively. PC2 is a non-selective cation channel permeable to Ca2+, while PC1 is thought to function as a membrane receptor. The cyst cell phenotype includes increased proliferation and apoptosis, dedifferentiation, defective planar polarity, and a secretory pattern associated with extracellular matrix remodeling. The two-hit model for cyst formation has been recently extended by the demonstration that early gene inactivation leads to rapid and diffuse development of renal cysts, while inactivation in adult life is followed by focal and late cyst formation. Renal ischemia/reperfusion, however, can function as a third hit, triggering rapid cyst development in kidneys with Pkd1 inactivation induced in adult life. The PC1-PC2 complex behaves as a sensor in the primary cilium, mediating signal transduction via Ca2+ signaling. The intracellular Ca2+ homeostasis is impaired in ADPKD, being apparently responsible for the cAMP accumulation and abnormal cell proliferative response to cAMP. Activated mammalian target for rapamycin (mTOR and cell cycle dysregulation are also significant features of PKD. Based on the identification of pathways altered in PKD, a large number of preclinical studies have been performed and are underway, providing a basis for clinical trials in ADPKD and helping the design of future trials.

  5. Polycystic kidney disease: an unrecognized emerging infectious disease?

    OpenAIRE

    Miller-Hjelle, M. A.; Hjelle, J T; Jones, M.; Mayberry, W. R.; Dombrink-Kurtzman, M. A.; Peterson, S.W.; Nowak, D. M.; Darras, F.S.

    1997-01-01

    Polycystic kidney disease (PKD) is one of the most common genetic diseases in humans. We contend that it may be an emerging infectious disease and/or microbial toxicosis in a vulnerable human subpopulation. Use of a differential activation protocol for the Limulus amebocyte lysate (LAL) assay showed bacterial endotoxin and fungal (1-->3)-beta-D-glucans in cyst fluids from human kidneys with PKD. Fatty acid analysis of cyst fluid confirmed the presence of 3-hydroxy fatty acids characteristic o...

  6. Patterns of autosomal dominant polycystic kidney diseases in black Africans

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    Fary Ka Elhadj

    2010-01-01

    Full Text Available Autosomal dominant polycystic kidney disease (ADPKD is not well described in black Africans while some data suggesting the disease is exceptional in this race. A retrospective study of patients with ADPKD followed in nephrology department of a teaching hospital in Dakar (January 1, 1995 to December 31, 2005 was therefore undertaken. Prevalence of ADPKD was one in 250. Mean age was 47 ± 5 years with a predominance of male (57%. High blood pressure (HBP was present in 68% of patients. Other renal manifestations were flank pain, hematuria and proteinuria. Majority of patients had impaired renal function at time of diagnosis. Extra-renal cysts were essentially found in liver (45.5%, pancreas and seminal vesicles. Main complications: ESRD (51% occurred within a 6 year mean period, urinary tract infection (13% and cerebral haemorrhage (2%. HBP control, in general needed 2 or more antihypertensive drugs. Fourteen patients died, ten patients had been on haemodialysis and four others died from uremic compli-cations. In conclusion, ADPKD in black African adults is not rare and probably underdiagnosed. Early HBP and ESRD are likely more frequent than in other races. Earlier ultrasound detection and strategies to preserve renal function should be offered to at-risk individuals to improve outcomes.

  7. Recent advances in the cell biology of polycystic kidney disease.

    Science.gov (United States)

    Smyth, Brendan J; Snyder, Richard W; Balkovetz, Daniel F; Lipschutz, Joshua H

    2003-01-01

    Autosomal dominant polycystic kidney disease (ADPKD) is a significant familial disorder, crossing multiple ethnicities as well as organ systems. The goal of understanding and, ultimately, curing ADPKD has fostered collaborative efforts among many laboratories, mustered on by the opportunity to probe fundamental cellular biology. Here we review what is known about ADPKD including well-accepted data such as the identification of the causative genes and the fact that PKD1 and PKD2 act in the same pathway, fairly well-accepted concepts such as the "two-hit hypothesis," and somewhat confusing information regarding polycystin-1 and -2 localization and protein interactions. Special attention is paid to the recently discovered role of the cilium in polycystic kidney disease and the model it suggests. Studying ADPKD is important, not only as an evaluation of a multisystem disorder that spans a lifetime, but as a testament to the achievements of modern biology and medicine.

  8. Elevated c-myc protooncogene expression in autosomal recessive polycystic kidney disease

    International Nuclear Information System (INIS)

    The polycystic kidney diseases (PKDs) are a group of disorders characterized by the growth of epithelial cysts from the nephrons and collecting ducts of kidney tubules. The diseases can be inherited or can be provoked by environmental factors. To investigate the molecular basis of the abnormal cell growth associated with PKD, c-myc protooncogene expression was studied in a mouse model for autosomal recessive PKD. Homozygous recessive C57BL/6J (cpk/cpk) mice develop massively enlarged cystic kidneys and die from renal failure shortly after 3 weeks of age. Quantitative dot blot and RNA blot hybridization experiments in which whole kidney poly(A)+ RNA was hybridized with a c-myc RNA probe showed a 2- to 6-fold increase in c-myc mRNA at 2 weeks, and a 25- to 30-fold increase in c-myc mRNA at 3 weeks of age in polycystic mice, as compared to normal littermates. c-myc expression was also examined under two conditions in which kidney cell growth was experimentally induced in normal adult mice: compensatory renal hypertrophy and tubule regeneration following folic acid-induced renal cell injury. While compensatory hypertrophy resulted in only a small increase in c-myc, folic acid treatment gave rise after 24 hr to a 12-fold increase in c-myc RNA. The induction of c-myc by folic acid is consistent with increased cellular proliferation regenerating tubules. In contrast, polycystic kidneys show only a minimal increase in cellular proliferation over that seen in normal kidneys, while c-myc levels were found to be markedly elevated. Thus, the level of c-myc expression in cystic kidneys appears to be out of proportion to the rate of cell division, suggesting that elevated and potentially abnormal c-myc expression may be involved in the pathogenesis of PKD

  9. Urine proteome of autosomal dominant polycystic kidney disease patients

    OpenAIRE

    Bakun, Magda; Niemczyk, Mariusz; Domanski, Dominik; Jazwiec, Radek; Perzanowska, Anna; Niemczyk, Stanislaw; Kistowski, Michal; Fabijanska, Agnieszka; Borowiec, Agnieszka; Paczek, Leszek; Dadlez, Michal

    2012-01-01

    Background Autosomal dominant polycystic kidney disease (ADPKD) is responsible for 10% of cases of the end stage renal disease. Early diagnosis, especially of potential fast progressors would be of benefit for efficient planning of therapy. Urine excreted proteome has become a promising field of the search for marker patterns of renal diseases including ADPKD. Up to now however, only the low molecular weight fraction of ADPKD proteomic fingerprint was studied. The aim of our study was to char...

  10. Caroli′s syndrome with autosomal recessive polycystic kidney disease

    OpenAIRE

    Prithi Shenoy; Syed Ahmed Zaki; Preeti Shanbag; Swapnil Bhongade

    2014-01-01

    Caroli′s syndrome (CS) is a rare congenital disorder characterized by multiple segmental cystic or saccular dilatations of the intrahepatic bile ducts and congenital hepatic fibrosis. We report a 9-year-old boy who was diagnosed with CS and autosomal recessive poly-cystic kidney disease. On screening, his 5-month-old asymptomatic sister had multiple dilated biliary radicals with multiple bilateral renal cystic lesions. Both the patient and the affected sibling have been advised regular follow...

  11. Kidney Function and Plasma Copeptin Levels in Healthy Kidney Donors and Autosomal Dominant Polycystic Kidney Disease Patients

    NARCIS (Netherlands)

    Zittema, Debbie; van den Berg, Else; Meijer, Esther; Boertien, Wendy E.; Muller Kobold, Anneke C.; Franssen, Casper F. M.; de Jong, Paul E.; Bakker, Stephan J. L.; Navis, Gerjan; Gansevoort, Ron T.

    2014-01-01

    Background and objectives Plasma copeptin, a marker of arginine vasopressin, is elevated in patients with autosomal dominant polycystic kidney disease and predicts disease progression. It is unknown whether elevated copeptin levels result from decreased kidney clearance or as compensation for impair

  12. Genetics Home Reference: polycystic kidney disease

    Science.gov (United States)

    ... aneurysm ) in a large blood vessel called the aorta or in blood vessels at the base of ... Additional NIH Resources (1 link) National Institute of Diabetes and Digestive and Kidney Diseases Educational Resources (8 ...

  13. Autosomal recessive polycystic kidney disease. A case report.

    Directory of Open Access Journals (Sweden)

    Hernando Diocaretz V

    2015-01-01

    Full Text Available INTRODUCTION: Polycystic Kidney Disease is a genetic disorder characterized by progressive cystic dilations of the renal ducts, presenting as autosomal dominant or recessive forms with an incidence of 1 in 1.000 and 1 in 20.000 births, respectively, according to international series. The autosomal recessive variety can be lethal in the neonatal period due to respiratory failure secondary to pulmonary hypoplasia and can manifest during childhood with hypertension, short stature and complications of portal hypertension. CASE REPORT: 3 years and 11 months old preschoolar with antecedent of fetal growth restriction and oligohydramnios during prenatal period, and a history of asthenia, pallor and progressive feeding difficulty with postprandial vomiting. Physical examination shows cardiac bruit, hypertension, splenomegaly, caput medusae and short stature. Laboratory tests with peripheral pancytopenia; abdominal ultrasonography showed hepatosplenomegaly, findings consistent with autosomal recessive polycystic kidney disease and periportal fibrosis; renal scintigraphy with bilateral kidney failure; a positive fecal occult blood test; an upper endoscopy that shows small esophageal varices; a hand radiography that shows bone age delayed and an echocardiography with cardiomegaly. DISCUSSION: This infrequent disease requires a high degree of suspicion by the clinician and presents with portal hypertension, with platelet count being the best predictor of severity. This condition has no cure and will progress to end-stage renal disease in any moment, so the aim is to minimize and treat renal and hepatic complications.

  14. Pyrrolidine dithiocarbamate reduces the progression of total kidney volume and cyst enlargement in experimental polycystic kidney disease

    OpenAIRE

    Ta, Michelle H. T.; Rao, Padmashree; Korgaonkar, Mayuresh; Foster, Sheryl F.; Peduto, Anthony; Harris, David C. H.; Rangan, Gopala K

    2014-01-01

    Abstract Heterocyclic dithiocarbamates have anti‐inflammatory and anti‐proliferative effects in rodent models of chronic kidney disease. In this study, we tested the hypothesis that pyrrolidine dithiocarbamate (PDTC) reduces the progression of polycystic kidney disease (PKD). Male Lewis polycystic kidney (LPK) rats (an ortholog of Nek8/NPHP9) received intraperitoneal injections of either saline vehicle or PDTC (40 mg/kg once or twice daily) from postnatal weeks 4 until 11. By serial magnetic ...

  15. Autosomal dominant polycystic kidney disease: recent advances in clinical management.

    Science.gov (United States)

    Mao, Zhiguo; Chong, Jiehan; Ong, Albert C M

    2016-01-01

    The first clinical descriptions of autosomal dominant polycystic kidney disease (ADPKD) go back at least 500 years to the late 16 (th) century. Advances in understanding disease presentation and pathophysiology have mirrored the progress of clinical medicine in anatomy, pathology, physiology, cell biology, and genetics. The identification of PKD1 and PKD2, the major genes mutated in ADPKD, has stimulated major advances, which in turn have led to the first approved drug for this disorder and a fresh reassessment of patient management in the 21 (st) century. In this commentary, we consider how clinical management is likely to change in the coming decade. PMID:27594986

  16. Anti-VEGF antibody treatment accelerates polycystic kidney disease.

    Science.gov (United States)

    Raina, Shagun; Honer, Michael; Krämer, Stefanie D; Liu, Yang; Wang, Xueqi; Segerer, Stephan; Wüthrich, Rudolf P; Serra, Andreas L

    2011-10-01

    Polycystic kidney growth implies expansion of the vasculature, suggesting that vascular endothelial growth factor (VEGF)-dependent processes play a critical role and that VEGF is a putative therapeutic target. Whether an anti-VEGF antibody improves renal cystic disease has not been determined. We administrated 5 mg/kg B20.4.1, an anti-VEGF-A antibody, or vehicle intraperitoneally twice weekly to 4-wk-old male normal (+/+) and cystic (Cy/+) Han:SPRD rats for 6 wk. Renal function, urinary protein excretion, organ/body weight ratios, cyst volume, tubular epithelial cell (TEC) proliferation, renal VEGF, hypoxia-inducible factor (HIF)-1α and -2α expression, renal histology, and kidney hypoxia visualized by [(18)F]fluoromisonidazole positron emission tomography were assessed. The treated compared with untreated +/+ rats had lower TEC proliferation rates, whereas Cy/+ rats receiving B20.4.1 displayed an increased proximal TEC proliferation rate, causing enhanced cyst and kidney growth. The +/+ and Cy/+ rats receiving B20.4.1 had severe renal failure and extensive glomerular damage. Proteinuria, which was highest in anti-VEGF-treated Cy/+ and lowest in untreated normal littermates, was positively correlated with renal HIF-1α and negatively correlated with VEGF expression. The untreated Cy/+ vs. +/+ rats had higher overall [(18)F]fluoromisonidazole uptake. The +/+ rats receiving B20.4.1 vs. untreated had increased [(18)F]fluoromisonidazole uptake, whereas the uptake was unchanged among treated vs. untreated Cy/+ animals. In conclusion, B20.4.1 caused an exaggerated cystic response of the proximal tubules in cystic rats and severe kidney injury that was associated with low renal VEGF and high HIF-1α levels. Anti-VEGF drug therapy may therefore not be a treatment option for polycystic kidney disease. PMID:21677148

  17. Mutation Screening of Exon 29 of PKD1 Gene in Chinese Patients with Adult Polycystic Kidney Disease(APKD)%中国人成人型多囊肾病PKD1基因突变筛选

    Institute of Scientific and Technical Information of China (English)

    张兰; 朱晓峰; 李黎; 罗建红

    2000-01-01

    @@ 成人型多囊肾病(Adult polycystic kidney dicease,APKD)是人类常见的常染色体显性遗传疾病,是8%~10%终末肾功能衰竭的病因.已知有3个基因的突变可导致APKD,其中PKD1和PKD2已被克隆和测序[1、2] ,PKD3也已定位[3].85%APKD是因PKD1基因突变所致,国外已发现近50种不同的突变方式[4].国内朱世乐等曾用与PKD1位点紧密连锁的微卫星DNA遗传标记,对中国人APKD家系成员作了单倍体型分析[5].本研究采用聚合酶链反应-单链构象多态性分析法(PCR-SSCP), 筛选分析了中国人APKD病人PKD1基因的突变.

  18. Cilia and polycystic kidney disease, kith and kin.

    Science.gov (United States)

    Huang, Liwei; Lipschutz, Joshua H

    2014-06-01

    In the past decade, cilia have been found to play important roles in renal cystogenesis. Many genes, such as PKD1 and PKD2 which, when mutated, cause autosomal dominant polycystic kidney disease (ADPKD), have been found to localize to primary cilia. The cilium functions as a sensor to transmit extracellular signals into the cell. Abnormal cilia structure and function are associated with the development of polyscystic kidney disease (PKD). Cilia assembly includes centriole migration to the apical surface of the cell, ciliary vesicle docking and fusion with the cell membrane at the intended site of cilium outgrowth, and microtubule growth from the basal body. This review summarizes the most recent advances in cilia and PKD research, with special emphasis on the mechanisms of cytoplasmic and intraciliary protein transport during ciliogenesis.

  19. Bilateral perinephric pseudocysts and polycystic kidneys in a ferret

    International Nuclear Information System (INIS)

    A 3-year-old castrated male domestic ferret was evaluated for abdominal distention. Survey lateral and dorsoventral abdominal radiographs were made. There were two soft tissue radiopacities consistent with grossly enlarged kidneys displacing small bowel and colon cranially, ventrally and caudally. Abdominal ultrasound was performed and revealed bilateral perinephric pseudocysts and polycystic kidneys. The perinephric pseudocysts were found to be dilated renal capsules on exploratory surgery and were drained. On follow up examinations, the pseudocysts were drained by ultrasound-guided paracentesis. The perinephric cyst fluid was distinguished from urine by measuring creatinine concentration and plans were made to resect the renal capsules due to rapid re-accumulation of pseudocyst fluid. The ferret's condition deteriorated and euthanasia was performed. Post-mortem examination was declined by the owner. Perinephric pseudocysts are rare and this is the first published report in a ferret. Ultrasound examination is the most rapid, accurate and non-invasive method for diagnosis of perinephric pseudocysts

  20. Dual energy CT in patients with polycystic kidney disease

    Energy Technology Data Exchange (ETDEWEB)

    Arndt, Nikolaus; Reiser, Maximilian F.; Graser, Anno [University of Munich, Department of Clinical Radiology, Munich (Germany); Staehler, Michael [University of Munich, Department of Urology, Munich (Germany); Siegert, Sabine [University of Munich, Department of Pathology, Munich (Germany)

    2012-10-15

    To evaluate the diagnostic efficacy of dual source-dual energy CT (DECT) in the detection of neoplasia in patients with polycystic kidney disease (PKD). A total of 21 patients with PKD underwent DECT on a dual source system, using kVp settings of Sn140/100 or 140/80. Colour-coded iodine maps and virtual unenhanced images were used to determine enhancement within cysts and to differentiate haemorrhagic from simple cysts. A cut-off of 15 HU was used as a threshold for malignancy. In patients with malignancy, histopathology was the gold standard; otherwise, patients underwent follow-up imaging for 150-908 days. On the basis of measured enhancement, 13 enhancing masses were seen in 4 patients (12 renal cell cancers and 1 adenoma); follow-up imaging showed no malignancy in 18 patients. Cysts did not enhance by more than 15 HU, whereas masses showed a mean enhancement of 45 (25-123) HU. Average radiation exposure was 9.6 mSv for the biphasic protocol and 5.8 mSv for DECT only. DECT greatly facilitates the detection of malignancy in patients with polycystic kidney disease, at the same time reducing radiation exposure by omission of a true unenhanced phase. (orig.)

  1. Association between Nephrolithiasis, Hypertension and Obesity in Polycystic Kidney Disease

    Directory of Open Access Journals (Sweden)

    Valbona Bajrami

    2015-12-01

    Full Text Available AIM: We aim to define the correlations between nephrolithiasis, hypertension, age and obesity in patients with autosomal dominant polycystic kidney disease (ADPKD in Albania. MATERIAL AND METHODS: We included 100 patients with autosomal dominant polycystic kidney from 2011 to 2014. The patients underwent X-ray and renal ultrasonography. We performed the metabolic evaluation of blood and urine. RESULTS: The patients with renal stones had a higher level of mean systolic and diastolic blood pressure compared with patients without stones (155 ± 12 mmHg vs. 145 ± 8 mmHg, and 105 ± 0.9 mmHg vs. 92 ± 1.28 mmHg, respectively. Patients with renal stones were older (47 ± 15 vs. 38 ± 5 years, had a higher prevalence of obesity [body mass index (BMI: 28 ± 2.4 vs. 25.7 ± 0.6], had higher levels of total cholesterol level (220 ± 5 mg/dl vs. 203 ± 4 mg/dl as well as triglyceride levels (160 ± 9 mg/dl vs. 126 ± 4 mg/dl, compared with no renal stone individuals. CONCLUSION: ADPKD patients with renal stones in our study had a higher mean level of systolic and diastolic blood pressure, BMI and cholesterol and triglycerides levels compared with individuals without renal stones.

  2. Nutraceutical for Autosomal Dominant Polycystic Kidney Disease Therapy.

    Science.gov (United States)

    Yuajit, Chaowalit; Chatsudthipong, Varanuj

    2016-01-01

    Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited renal disorder caused by mutations of either PKD1 or PKD2 gene. Cyst formation initiates from a combination of abnormal cell proliferation along with enhanced fluid secretion. ADPKD is characterized by the progressive enlargement of cysts which destroy the renal parenchymal cells, resulting in renal failure. Currently, there is no effective treatment for this disease. Interestingly, several relevant therapeutic effects of herbal medicine relevant to pathogenic process of ADPKD have urged the researchers to search for potential candidate herb as nutraceutical for ADPKD therapy. Up to now, several natural compounds, such as triptolide, curcumin, ginkolide B, and steviol (stevia extract) have been shown to be able to retard cyst progression in ADPKD. The detailed mechanism of these compounds showed that triptolide enhanced calcium restoration, curcumin inhibited ERK & p-STAT3 pathways, ginkolide B inhibited Ras/MAPK pathway, and steviol activated AMPK, which inhibited CFTR channel and mTOR pathway in cell and mouse models of PKD. In addition, they are currently inpreclinical and clinical studies, respectively. This review focuses on the pathophysiology of ADPKD and the recent therapeutic approaches, especially a potential use of nutraceutical for the treatment of autosomal dominant polycystic kidney disease. PMID:26817244

  3. Polycystic kidney disease in four British shorthair cats with successful treatment of bacterial cyst infection.

    Science.gov (United States)

    Nivy, R; Lyons, L A; Aroch, I; Segev, G

    2015-09-01

    Polycystic kidney disease is the most common inherited disorder in cats. Renal cysts progressively increase in size and number, resulting in a gradual decrease in kidney function. An autosomal dominant mutation in exon 29 of the polycystin-1 gene has been identified, mostly in Persian and Persian-related breeds. This case study describes polycystic kidney disease in four British shorthair cats, of which two had the same genetic mutation reported in Persian and Persian-related cats. This likely reflects introduction of this mutation into the British shorthair breeding line because of previous outcrossing with Persian cats. An infected renal cyst was diagnosed and successfully treated in one of the cats. This is a commonly reported complication in human polycystic kidney disease, and to the authors' knowledge has not previously been reported in cats with polycystic kidney disease. PMID:25677715

  4. Polycystic kidney disease in four British shorthair cats with successful treatment of bacterial cyst infection.

    Science.gov (United States)

    Nivy, R; Lyons, L A; Aroch, I; Segev, G

    2015-09-01

    Polycystic kidney disease is the most common inherited disorder in cats. Renal cysts progressively increase in size and number, resulting in a gradual decrease in kidney function. An autosomal dominant mutation in exon 29 of the polycystin-1 gene has been identified, mostly in Persian and Persian-related breeds. This case study describes polycystic kidney disease in four British shorthair cats, of which two had the same genetic mutation reported in Persian and Persian-related cats. This likely reflects introduction of this mutation into the British shorthair breeding line because of previous outcrossing with Persian cats. An infected renal cyst was diagnosed and successfully treated in one of the cats. This is a commonly reported complication in human polycystic kidney disease, and to the authors' knowledge has not previously been reported in cats with polycystic kidney disease.

  5. Heterotrimeric G protein signaling in polycystic kidney disease.

    Science.gov (United States)

    Hama, Taketsugu; Park, Frank

    2016-07-01

    Autosomal dominant polycystic kidney disease (ADPKD) is a signalopathy of renal tubular epithelial cells caused by naturally occurring mutations in two distinct genes, polycystic kidney disease 1 (PKD1) and 2 (PKD2). Genetic variants in PKD1, which encodes the polycystin-1 (PC-1) protein, remain the predominant factor associated with the pathogenesis of nearly two-thirds of all patients diagnosed with PKD. Although the relationship between defective PC-1 with renal cystic disease initiation and progression remains to be fully elucidated, there are numerous clinical studies that have focused upon the control of effector systems involving heterotrimeric G protein regulation. A major regulator in the activation state of heterotrimeric G proteins are G protein-coupled receptors (GPCRs), which are defined by their seven transmembrane-spanning regions. PC-1 has been considered to function as an unconventional GPCR, but the mechanisms by which PC-1 controls signal processing, magnitude, or trafficking through heterotrimeric G proteins remains to be fully known. The diversity of heterotrimeric G protein signaling in PKD is further complicated by the presence of non-GPCR proteins in the membrane or cytoplasm that also modulate the functional state of heterotrimeric G proteins within the cell. Moreover, PC-1 abnormalities promote changes in hormonal systems that ultimately interact with distinct GPCRs in the kidney to potentially amplify or antagonize signaling output from PC-1. This review will focus upon the canonical and noncanonical signaling pathways that have been described in PKD with specific emphasis on which heterotrimeric G proteins are involved in the pathological reorganization of the tubular epithelial cell architecture to exacerbate renal cystogenic pathways.

  6. Heterotrimeric G protein signaling in polycystic kidney disease.

    Science.gov (United States)

    Hama, Taketsugu; Park, Frank

    2016-07-01

    Autosomal dominant polycystic kidney disease (ADPKD) is a signalopathy of renal tubular epithelial cells caused by naturally occurring mutations in two distinct genes, polycystic kidney disease 1 (PKD1) and 2 (PKD2). Genetic variants in PKD1, which encodes the polycystin-1 (PC-1) protein, remain the predominant factor associated with the pathogenesis of nearly two-thirds of all patients diagnosed with PKD. Although the relationship between defective PC-1 with renal cystic disease initiation and progression remains to be fully elucidated, there are numerous clinical studies that have focused upon the control of effector systems involving heterotrimeric G protein regulation. A major regulator in the activation state of heterotrimeric G proteins are G protein-coupled receptors (GPCRs), which are defined by their seven transmembrane-spanning regions. PC-1 has been considered to function as an unconventional GPCR, but the mechanisms by which PC-1 controls signal processing, magnitude, or trafficking through heterotrimeric G proteins remains to be fully known. The diversity of heterotrimeric G protein signaling in PKD is further complicated by the presence of non-GPCR proteins in the membrane or cytoplasm that also modulate the functional state of heterotrimeric G proteins within the cell. Moreover, PC-1 abnormalities promote changes in hormonal systems that ultimately interact with distinct GPCRs in the kidney to potentially amplify or antagonize signaling output from PC-1. This review will focus upon the canonical and noncanonical signaling pathways that have been described in PKD with specific emphasis on which heterotrimeric G proteins are involved in the pathological reorganization of the tubular epithelial cell architecture to exacerbate renal cystogenic pathways. PMID:27199453

  7. Fibrosis and progression of autosomal dominant polycystic kidney disease (ADPKD).

    Science.gov (United States)

    Norman, Jill

    2011-10-01

    The age on onset of decline in renal function and end-stage renal disease (ESRD) in autosomal polycystic kidney disease (ADPKD) is highly variable and there are currently no prognostic tools to identify patients who will progress rapidly to ESRD. In ADPKD, expansion of cysts and loss of renal function are associated with progressive fibrosis. Similar to the correlation between tubulointerstitial fibrosis and progression of chronic kidney disease (CKD), in ADPKD, fibrosis has been identified as the most significant manifestation associated with an increased rate of progression to ESRD. Fibrosis in CKD has been studied extensively. In contrast, little is known about the mechanisms underlying progressive scarring in ADPKD although some commonality may be anticipated. Current data suggest that fibrosis associated with ADPKD shares at least some of the "classical" features of fibrosis in CKD (increased interstitial collagens, changes in matrix metalloproteinases (MMPs), over-expression of tissue inhibitor of metalloproteinase-1 (TIMP-1), over-expression of plasminogen activator inhibitor-1 (PAI-1) and increased transforming growth factor beta (TGFβ) but that there are also some unique and stage-specific features. Epithelial changes appear to precede and to drive interstitial changes leading to the proposal that development of fibrosis in ADPKD is biphasic with alterations in cystic epithelia precipitating changes in interstitial fibroblasts and that reciprocal interactions between these cell types drives progressive accumulation of extracellular matrix (ECM). Since fibrosis is a major component of ADPKD it follows that preventing or slowing fibrosis should retard disease progression with obvious therapeutic benefits. The development of effective anti-fibrotic strategies in ADPKD is dependent on understanding the precise mechanisms underlying initiation and progression of fibrosis in ADPKD and the role of the intrinsic genetic defect in these processes. This article is

  8. Dietary citrate treatment of polycystic kidney disease in rats.

    Science.gov (United States)

    Tanner, George A; Tanner, Judith A

    2003-01-01

    Progression of autosomal-dominant polycystic kidney disease (ADPKD) in the heterozygous male Han:SPRD rat is dramatically slowed by ingestion of potassium or sodium citrate. This study examined the efficacy of delayed therapy with sodium citrate, the effect of sodium citrate therapy on kidney cortex levels of transforming growth factor-beta (TGF-beta), and the response to calcium citrate ingestion. Rats were provided with citrate salts in their food, and renal clearance, blood pressure, blood chemistry, and survival determinations were made. Sodium citrate therapy was most effective when started at age 1 month, and delay of therapy until age 3 months produced no benefit. Kidney cortex TGF-beta levels were elevated in 3- and 8-month-old rats with ADPKD, but not in 6-week-old rats. Sodium citrate treatment, started at age 1 month, lowered TGF-beta levels to normal in 3-month-old rats, but this is probably not the primary mechanism of citrate's beneficial effect. Calcium citrate had only a modest effect in preserving glomerular filtration rate. Effective treatment of ADPKD in this rat model requires early administration of a readily absorbed alkalinizing citrate salt. Existing data on ADPKD patients on vegetarian diets or with kidney stones should be studied in light of these findings.

  9. Clinical manifestations of autosomal recessive polycystic kidney disease (ARPKD): kidney-related and non-kidney-related phenotypes.

    Science.gov (United States)

    Büscher, Rainer; Büscher, Anja K; Weber, Stefanie; Mohr, Julia; Hegen, Bianca; Vester, Udo; Hoyer, Peter F

    2014-10-01

    Autosomal recessive polycystic kidney disease (ARPKD), although less frequent than the dominant form, is a common, inherited ciliopathy of childhood that is caused by mutations in the PKHD1-gene on chromosome 6. The characteristic dilatation of the renal collecting ducts starts in utero and can present at any stage from infancy to adulthood. Renal insufficiency may already begin in utero and may lead to early abortion or oligohydramnios and lung hypoplasia in the newborn. However, there are also affected children who have no evidence of renal dysfunction in utero and who are born with normal renal function. Up to 30 % of patients die in the perinatal period, and those surviving the neonatal period reach end stage renal disease (ESRD) in infancy, early childhood or adolescence. In contrast, some affected patients have been diagnosed as adults with renal function ranging from normal to moderate renal insufficiency to ESRD. The clinical spectrum of ARPKD is broader than previously recognized. While bilateral renal enlargement with microcystic dilatation is the predominant clinical feature, arterial hypertension, intrahepatic biliary dysgenesis remain important manifestations that affect approximately 45 % of infants. All patients with ARPKD develop clinical findings of congenital hepatic fibrosis (CHF); however, non-obstructive dilation of the intrahepatic bile ducts in the liver (Caroli's disease) is seen at the histological level in only a subset of patients. Cholangitis and variceal bleeding, sequelae of portal hypertension, are life-threatening complications that may occur more often in advanced cases of liver disease. In this review we focus on common and uncommon kidney-related and non-kidney-related phenotypes. Clinical management of ARPKD patients should include consideration of potential problems related to these manifestations.

  10. Molecular Diagnostics in Autosomal Dominant Polycystic Kidney Disease: Utility and Limitations

    OpenAIRE

    Zhao, Xiao; Paterson, Andrew D.; Zahirieh, Alireza; He, Ning; Wang, Kairong; Pei, York

    2008-01-01

    Background and objectives: Gene-based mutation screening is now available and has the potential to provide diagnostic confirmation or exclusion of autosomal dominant polycystic kidney disease. This study illustrates its utility and limitations in the clinical setting.

  11. Caffeine intake by patients with autosomal dominant polycystic kidney disease

    Energy Technology Data Exchange (ETDEWEB)

    Vendramini, L.C.; Nishiura, J.L.; Baxmann, A.C.; Heilberg, I.P. [Disciplina de Nefrologia, Departamento de Medicina, Universidade Federal de São Paulo, São Paulo, SP (Brazil)

    2012-07-20

    Because caffeine may induce cyst and kidney enlargement in autosomal dominant polycystic kidney disease (ADPKD), we evaluated caffeine intake and renal volume using renal ultrasound in ADPKD patients. Caffeine intake was estimated by the average of 24-h dietary recalls obtained on 3 nonconsecutive days in 102 ADPKD patients (68 females, 34 males; 39 ± 12 years) and compared to that of 102 healthy volunteers (74 females, 28 males; 38 ± 14 years). The awareness of the need for caffeine restriction was assessed. Clinical and laboratory data were obtained from the medical records of the patients. Mean caffeine intake was significantly lower in ADPKD patients versus controls (86 vs 134 mg/day), and 63% of the ADPKD patients had been previously aware of caffeine restriction. Caffeine intake did not correlate with renal volume in ADPKD patients. There were no significant differences between the renal volumes of patients in the highest and lowest tertiles of caffeine consumption. Finally, age-adjusted multiple linear regression revealed that renal volume was associated with hypertension, chronic kidney disease stage 3 and the time since diagnosis, but not with caffeine intake. The present small cross-sectional study indicated a low level of caffeine consumption by ADPKD patients when compared to healthy volunteers, which was most likely due to prior awareness of the need for caffeine restriction. Within the range of caffeine intake observed by ADPKD patients in this study (0-471 mg/day), the renal volume was not directly associated with caffeine intake.

  12. Caffeine intake by patients with autosomal dominant polycystic kidney disease

    Directory of Open Access Journals (Sweden)

    L.C. Vendramini

    2012-09-01

    Full Text Available Because caffeine may induce cyst and kidney enlargement in autosomal dominant polycystic kidney disease (ADPKD, we evaluated caffeine intake and renal volume using renal ultrasound in ADPKD patients. Caffeine intake was estimated by the average of 24-h dietary recalls obtained on 3 nonconsecutive days in 102 ADPKD patients (68 females, 34 males; 39 ± 12 years and compared to that of 102 healthy volunteers (74 females, 28 males; 38 ± 14 years. The awareness of the need for caffeine restriction was assessed. Clinical and laboratory data were obtained from the medical records of the patients. Mean caffeine intake was significantly lower in ADPKD patients versus controls (86 vs 134 mg/day, and 63% of the ADPKD patients had been previously aware of caffeine restriction. Caffeine intake did not correlate with renal volume in ADPKD patients. There were no significant differences between the renal volumes of patients in the highest and lowest tertiles of caffeine consumption. Finally, age-adjusted multiple linear regression revealed that renal volume was associated with hypertension, chronic kidney disease stage 3 and the time since diagnosis, but not with caffeine intake. The present small cross-sectional study indicated a low level of caffeine consumption by ADPKD patients when compared to healthy volunteers, which was most likely due to prior awareness of the need for caffeine restriction. Within the range of caffeine intake observed by ADPKD patients in this study (0-471 mg/day, the renal volume was not directly associated with caffeine intake.

  13. An 11-Year-Old Child with Autosomal Dominant Polycystic Kidney Disease Who Presented with Nephrolithiasis

    Directory of Open Access Journals (Sweden)

    Fatih Firinci

    2012-01-01

    Full Text Available Patients with autosomal dominant polycystic kidney disease become symptomatic and are diagnosed usually at adulthood. The rate of nephrolithiasis in these patients is 5–10 times the rate in the general population, and both anatomic and metabolic abnormalities play role in the formation of renal stones. However, nephrolithiasis is rare in childhood age group. In this paper, an 11-year-old child with autosomal dominant polycystic kidney disease presenting with nephrolithiasis is discussed.

  14. Determinants of renal volume in autosomal-dominant polycystic kidney disease

    OpenAIRE

    Grantham, JJ; Cook, LT; Torres, VE; Bost, JE; Chapman, AB; Harris, PC; Guay-Woodford, LM; Bae, KT

    2007-01-01

    The Consortium of Radiologic Imaging Studies of Polycystic Kidney Disease (CRISP) recently showed that renal enlargement in autosomal-dominant polycystic kidney disease mimicked exponential growth. We determined the effects of cyst initiation rate, total number, and growth rate on the time-dependent change of total cyst volume (TCV). Mathematical models with equations integrating cyst surface area, volume, and an invariant growth rate constant were used to compute the time-dependent change in...

  15. Renal and extrarenal manifestations of autosomal dominant polycystic kidney disease

    Directory of Open Access Journals (Sweden)

    E.A. Romão

    2006-04-01

    Full Text Available The objective of the present study was to determine the frequency of the most common clinical features in patients with autosomal dominant polycystic kidney disease in a sample of the Brazilian population. The medical records of 92 patients with autosomal dominant polycystic kidney disease attended during the period from 1985 to 2003 were reviewed. The following data were recorded: age at diagnosis, gender, associated clinical manifestations, occurrence of stroke, age at loss of renal function (beginning of dialysis, and presence of a family history. The involvement of abdominal viscera was investigated by ultrasonography. Intracranial alterations were prospectively investigated by magnetic resonance angiography in 42 asymptomatic patients, and complemented with digital subtraction arteriography when indicated. Mean age at diagnosis was 35.1 ± 14.9 years, and mean serum creatinine at referral was 2.4 ± 2.8 mg/dL. The most frequent clinical manifestations during the disease were arterial hypertension (63.3%, lumbar pain (55.4%, an abdominal mass (47.8%, and urinary infection (35.8%. Loss of renal function occurred in 27 patients (mean age: 45.4 ± 9.5 years. The liver was the second organ most frequently affected (39.1%. Stroke occurred in 7.6% of the patients. Asymptomatic intracranial aneurysm was detected in 3 patients and arachnoid cysts in 3 other patients. In conclusion, the most common clinical features were lumbar pain, arterial hypertension, abdominal mass, and urinary infection, and the most serious complications were chronic renal failure and stroke. Both intracranial aneurysms and arachnoid cysts occurred in asymptomatic patients at a frequency of 7.14%.

  16. Von Meyenburg complex associated with adult polycystic liver disease

    Directory of Open Access Journals (Sweden)

    Lalošević Dušan

    2005-01-01

    Full Text Available Introduction. The von Meyenburg complex (bile duct hamartoma is a rare developmental disorder, manifested by multiple bile ducts. The polycystic liver disease is a rare congenital anomaly which may remain undiscovered until adult life, occurring more frequently in women. It is mostly asymptomatic, but sometimes surgical intervention is necessary. In the majority of cases, it is combined with cysts in the kidney and, rarely, in other organs as well. The cysts may vary in diameter from I mm to 20 cm, or even more. Case report A 55-year-old woman underwent surgery based on clinical diagnosis: suspected Echinococcus liver cyst. Liver biopsy was performed, and a parenchymal tissue of 6.5x4x3 cm, with a cyst with a diameter of 2.5 cm, was resected. Within the cyst lumen there was a necrotic, mushy, yellow contents. Microscopically examined, it showed plenty of cholesterol crystals. The wall of the cyst consisted of hypocellular connective tissue. In the surrounding liver parenchyma, there were cystical formations of the same structure, measuring 1-2 mm. Also, there were some multiple bile duct hamartomas. The ducts were encircled by a delicate connective tissue. Discussion and conclusion These changes correspond to von Meyenburg complex, i.e. biliary microhamartoma combined with adult polycystic disease. In our case, in the wall of the cyst there were numerous cholesterol crystals, pointing to its retention character and, probably, to the mechanism of its origin. After degeneration of biliary epithelium, the cyst wall grew very thick, due to proliferation of the connective tissue evoked by the aggressive chemical contents of the bile. Frequent development of cholangiocarcinoma within the cyst wall also points to long-term chemical irritation. .

  17. Imaging for the prognosis of autosomal dominant polycystic kidney disease.

    Science.gov (United States)

    Bae, Kyongtae T; Grantham, Jared J

    2010-02-01

    Autosomal dominant polycystic kidney disease (ADPKD) is characterized by the unrelenting enlargement of innumerable cysts derived from renal tubules. This cystic growth often leads to a grotesque renal enlargement. Relatively early in life, the cysts trigger secondary complications including pain, hypertension and gross hematuria; renal insufficiency is usually not detected until the fifth or sixth decade of life. Therapies targeted to molecular and pathophysiological abnormalities slow cyst growth and protect renal function in animal models of the disease. Unfortunately, the translation of these treatments into clinical trials is hampered since glomerular filtration rate, the usual biomarker of renal disease progression, does not decrease substantially until extensive and irreversible damage to noncystic parenchyma occurs. Ultrasonography, CT and MRI have been used for many years to quantify the increase in renal volume in patients with ADPKD. Imaging with these techniques has also been used to accurately quantify the rate of increased kidney and total cyst volume in patients. In this Review we discuss the overwhelming evidence in support of the view that imaging is an invaluable tool to monitor the onset and progression of ADPKD and is well-suited to gauge the response of this disease to targeted therapy before renal function begins to decline. PMID:20111050

  18. Laminin 5 regulates polycystic kidney cell proliferation and cyst formation.

    Science.gov (United States)

    Joly, Dominique; Berissi, Sophie; Bertrand, Amélie; Strehl, Laetitia; Patey, Natacha; Knebelmann, Bertrand

    2006-09-29

    Renal cyst formation is the hallmark of autosomal dominant polycystic kidney disease (ADPKD). ADPKD cyst-lining cells have an increased proliferation rate and are surrounded by an abnormal extracellular matrix (ECM). We have previously shown that Laminin 5 (Ln-5, a alpha(3)beta(3)gamma(2) trimer) is aberrantly expressed in the pericystic ECM of ADPKD kidneys. We report that ADPKD cells in primary cultures produce and secrete Ln-5 that is incorporated to the pericystic ECM in an in vitro model of cystogenesis. In monolayers, purified Ln-5 induces ERK activation and proliferation of ADPKD cells, whereas upon epidermal growth factor stimulation blocking endogenously produced Ln-5 with anti-gamma(2) chain antibody reduces the sustained ERK activation and inhibits proliferation. In three-dimensional gel culture, addition of purified Ln-5 stimulates cell proliferation and cyst formation, whereas blocking endogenous Ln-5 strongly inhibits cyst formation. Ligation of alpha(6)beta(4) integrin, a major Ln-5 receptor aberrantly expressed by ADPKD cells, induces beta(4) integrin phosphorylation, ERK activation, cell proliferation, and cyst formation. These findings indicate that Ln-5 is an important regulator of ADPKD cell proliferation and cystogenesis and suggest that Ln-5 gamma(2) chain and Ln-5-alpha(6)beta(4) integrin interaction both contribute to these phenotypic changes. PMID:16870608

  19. Improved Structure and Function in Autosomal Recessive Polycystic Rat Kidneys with Renal Tubular Cell Therapy.

    Directory of Open Access Journals (Sweden)

    K J Kelly

    Full Text Available Autosomal recessive polycystic kidney disease is a truly catastrophic monogenetic disease, causing death and end stage renal disease in neonates and children. Using PCK female rats, an orthologous model of autosomal recessive polycystic kidney disease harboring mutant Pkhd1, we tested the hypothesis that intravenous renal cell transplantation with normal Sprague Dawley male kidney cells would improve the polycystic kidney disease phenotype. Cytotherapy with renal cells expressing wild type Pkhd1 and tubulogenic serum amyloid A1 had powerful and sustained beneficial effects on renal function and structure in the polycystic kidney disease model. Donor cell engraftment and both mutant and wild type Pkhd1 were found in treated but not control PCK kidneys 15 weeks after the final cell infusion. To examine the mechanisms of global protection with a small number of transplanted cells, we tested the hypothesis that exosomes derived from normal Sprague Dawley cells can limit the cystic phenotype of PCK recipient cells. We found that renal exosomes originating from normal Sprague Dawley cells carried and transferred wild type Pkhd1 mRNA to PCK cells in vivo and in vitro and restricted cyst formation by cultured PCK cells. The results indicate that transplantation with renal cells containing wild type Pkhd1 improves renal structure and function in autosomal recessive polycystic kidney disease and may provide an intra-renal supply of normal Pkhd1 mRNA.

  20. Neonatal onset autosomal dominant polycystic kidney disease (ADPKD) in a patient homozygous for a PKD2 missense mutation due to uniparental disomy.

    NARCIS (Netherlands)

    Losekoot, M.; Ruivenkamp, C.A.; Tholens, A.P.; Grimbergen, J.E.; Vijfhuizen, L.; Vermeer, S.; Dijkman, H.B.P.M.; Cornelissen, E.A.M.; Bongers, M.H.F.; Peters, D.J.

    2012-01-01

    Autosomal dominant polycystic kidney disease (ADPKD), due to a heterozygous mutation in PKD1 or PKD2, is usually an adult onset disease. Renal cystic disease is generally milder in PKD2 patients than in PKD1 patients. Recently, several PKD1 patients with a severe renal cystic phenotype due to a seco

  1. Yersinia pseudotuberculosis aortitis in a patient with diverticulosis and polycystic kidney disease.

    Science.gov (United States)

    McCloskey, Sarah; Haslam, Philip; Price, David A; Sayer, John A

    2015-04-01

    An 81-year-old gentleman with chronic kidney disease presented with pyrexia and a new systolic cardiac murmur. Investigations revealed infective aortitis of a pre-existing aortic aneurysm graft repair. Peripheral blood cultures were positive for Yersinia pseudotuberculosis and the patient was successfully treated with an extended course of antibiotics. Abdominal imaging also revealed progressive bilateral polycystic kidney disease with associated diverticular disease, which was postulated as the source of the Y. pseudotuberculosis. An autosomal dominant polycystic kidney disease may present late in life and extra-renal manifestations of this disease are an important cause of morbidity. PMID:26634143

  2. Tear drops of kidney: a historical overview of Polycystic Kidney Disease.

    Science.gov (United States)

    Balat, Ayse

    2016-02-01

    Polycystic kidneydisease (PKD) is one of the most common inheritedkidneydiseases causing end stage renal disease. Although it has been in existence with humanity, it was defined in 18th century. The most detailed observations on PKD have been written after the disease of Stephen Bathory, the King of Poland. He had fatigue and chest pain accompanied by unconsciousness within a few days after a hunting trip, and died within 9 days, at the age of 53 years in 1586. Surgeon Jan Zigulitz described the cysts in his kidneys as large like those of a bull, with an uneven and bumpy surface during the mummification. Based on available information, 347 years later, a group of physicians and historians in Krakow concluded that the probable cause of Kings death was PKD and uremia. Unfortunately, PKD did not attracted the interest of physicians until the 18th century. In late 18th century, Matthew Baillie noted that these vesicular cysts in kidney were different from hydatid cysts, and described them as "false hydatids of kidney". In 1888, Flix Lejars used the term of "polycystic kidney" for the first time, and stressed that these cysts were bilateral, and causing clinically identifiable symptoms. At the end of 19th century, the basic clinical signs, and genetic basis of the disease have been better defined. However, the inheritance pattern could only be understood long years later. In this study, the history of PKD, i.e., the tear drops (cysts) of kidney will try to be explained by the light of old and current knowledge.

  3. Pathogenic sequence for dissecting aneurysm formation in a hypomorphic polycystic kidney disease 1 mouse model

    NARCIS (Netherlands)

    Hassane, S.; Claij, N.; Lantinga-van Leeuwen, I.S.; Munsteren, J.C. van; Lent, N. van; Hanemaaijer, R.; Breuning, M.H.; Peters, D.J.M.; Ruiter, M.C. de

    2007-01-01

    OBJECTIVE - Autosomal Dominant Polycystic Kidney Disease (ADPKD) is a multi-system disorder characterized by progressive cyst formation in the kidneys. Serious complications of ADPKD are intracranial and aortic aneurysms. The condition is mainly caused by mutations in the PKD1 or PKD2 gene. We have

  4. Prenatal diagnosis by ultrasound in pregnancies at risk for autosomal recessive polycystic kidney disease

    NARCIS (Netherlands)

    A. Reuss (Annette); J.W. Wladimiroff (Juriy); P.A. Stewart (Patricia); M.F. Niermeijer (Martinus)

    1990-01-01

    markdownabstractAbstract In 15 pregnancies at risk of the autosomal recessive type of polycystic kidney disease (ARPKD), there were six recurrences (40%), five of which were diagnosed prenatally between 17 and 26 weeks (mean, 22 weeks). In the remaining affected case, normal kidney size and echoge

  5. Research on autosomal dominant polycystic kidney disease in China

    Institute of Scientific and Technical Information of China (English)

    DAI Bing; MEI Chang-lin

    2006-01-01

    Objective To review the history and recent development of research on autosomal dominant polycystic kidney disease (ADPKD) in China.Data sources Both Chinese and English literatures were searched in MEDLINE/CD ROM (1979 - 2006) and the Chinese Biomedical Literature Disk (1979 - 2006).Study selection Published articles about ADPKD from mainland of China were selected. Data were mainly extracted from 58 articles which are listed in the reference section of this review.Results Some preliminary reports on cyst decompression surgeries and mutation analysis represent the contribution to the ADPKD research from China in the history. A serial of basic research and clinical studies on ADPKD in recent years also have been summarized. A technique platform for ADPKD research was firstly established. The genomics/proteomics/bioinformatics approach was introduced, which provide a lot of valuable information for understanding the pathogenesis. By denature high performance liquid chromatography (DHPLC)technique the entire PKD1 and PKD2 gene sequence screening system for Chinese Han population has been successfully established. Based on the characteristic data of Chinese patients, an integrated therapy protocol was put forward and won an advantage over the traditional therapy. Some novel experimental studies on therapy also were encouraging. Conclusions Remarkable progress of ADPKD research in China have been made recently. Still many works, including the government support, international collaboration and active participation of more Chinese nephrologists, should be enhanced to advance this process in the near future.

  6. Genetic heterogeneity of polycystic kidney disease in Bulgaria

    Energy Technology Data Exchange (ETDEWEB)

    Bogdanova, N. [Faculty of Medicine, Sofia (Bulgaria)]|[Westfaelische Wihelms-Universitaet, Muenster (Germany); Dragova, D.; Kalaydiieva, L. [Faculty of Medicine, Sofia (Bulgaria)] [and others

    1994-09-01

    Autosomal dominant polycystic kidney disease (PKD) is a common genetic disorder whose frequency in Bulgaria has been estimated at 1 in 950. One gene (PKD1) causing this disease has been mapped to the short arm of chromosome 16 in 1985. Linkage analysis showed that in a considerable proportion of PKD families (approximately 14% in Europe) the disease is not linked to this locus, suggesting the existance of mutations in additional genes. In 1993 a PKD2-gene has been mapped to the long arm of chromosome 4. Here we report data of the first extensive investigation of PKD in Bulgaria. Initially 35 families with 341 individuals (178 affected, 89 unaffected family members, 74 spouses) were included in the study. Clinical diagnosis, mainly based on ultrasonographic examination of the kidneys, has been performed for all individuals. Linkage analysis was performed on 22 large pedigrees with microsatellites 16SC2.5 (D16S291) and SM7 (D16S283), which are closely linked to the PKD1 locus, as well as microsatellites D4S392, D4S400, D4S231 (proximal to the PDK2 locus) and D4S423, D4S414, D4S411 (distal to PKD2 locus). The study showed that the disease is caused in 14 families by mutations within the PKD1 gene and was clearly linked to the PDK2 locus in 5 families. In 3 families no clear conclusions about the linkage could be reached and analysis of additional markers from this region is in progress. The investigation has revealed the highest proportion of PKD2 families reported so far in Europe (23%). In addition, comparison of the severity of the clinical course of PKD1 and PKD2 families failed to confirm statistically significant differences which have been reported.

  7. Long-term rapamycin therapy in the Han:SPRD rat model of polycystic kidney disease (PKD)

    OpenAIRE

    Zafar, Iram; Belibi, Franck A; He, Zhibin; Edelstein, Charles L

    2009-01-01

    Background. Short-term studies have demonstrated that rapamycin or everolimus treatment decreases cyst formation and improves renal function in animal models of polycystic kidney disease (PKD). Autosomal dominant polycystic kidney disease (ADPKD) patients would likely require life-long treatment with rapamycin.

  8. Pathways of apoptosis in human autosomal recessive and autosomal dominant polycystic kidney diseases.

    Science.gov (United States)

    Goilav, Beatrice; Satlin, Lisa M; Wilson, Patricia D

    2008-09-01

    Autosomal dominant polycystic kidney disease (ADPKD) is a major cause of end-stage renal disease in adults. Autosomal recessive (AR) PKD affects approximately 1:20,000 live-born children with high perinatal mortality. Both diseases have abnormalities in epithelial proliferation, secretion, and cell-matrix interactions, leading to progressive cystic expansion and associated interstitial fibrosis. Cell number in a kidney reflects the balance between proliferation and apoptosis. Apoptosis results from extrinsic (ligand-induced, expression of caspase-8) and intrinsic (mitochondrial damage, expression of caspase-9) triggers. Previous studies have suggested a role for apoptosis in PKD cyst formation and parenchymal destruction. Mechanisms underlying apoptosis in human ADPKD and ARPKD were examined by quantitative immunohistochemistry and Western immunoblot analyses of age-matched normal and PKD tissues. Caspase-8 expression was significantly greater in small cysts and normal-appearing tubules than in larger cysts in ADPKD kidneys. Caspase-8 also appeared early in the disease process of ADPKD. In ARPKD, expression of caspase-8 was most pronounced in later stages of the disease and was not confined to a specific cyst size. In conclusion, apoptosis in human ADPKD is an early event, occurring predominantly in normal-appearing tubules and small cysts, and is triggered by an extrinsic factor, but it occurs later in ARPKD. PMID:18516626

  9. Deficiency of FLCN in mouse kidney led to development of polycystic kidneys and renal neoplasia.

    Directory of Open Access Journals (Sweden)

    Jindong Chen

    Full Text Available The Birt-Hogg-Dubé (BHD disease is a genetic cancer syndrome. The responsible gene, BHD, has been identified by positional cloning and thought to be a novel tumor suppressor gene. BHD mutations cause many types of diseases including renal cell carcinomas, fibrofolliculomas, spontaneous pneumothorax, lung cysts, and colonic polyps/cancers. By combining Gateway Technology with the Ksp-Cre gene knockout system, we have developed a kidney-specific BHD knockout mouse model. BHD(flox/flox/Ksp-Cre mice developed enlarged kidneys characterized by polycystic kidneys, hyperplasia, and cystic renal cell carcinoma. The affected BHD(flox/flox/Ksp-Cre mice died of renal failure at approximate three weeks of age, having blood urea nitrogen levels over tenfold higher than those of BHD (flox/+/Ksp-Cre and wild-type littermate controls. We further demonstrated that these phenotypes were caused by inactivation of BHD and subsequent activation of the mTOR pathway. Application of rapamycin, which inhibits mTOR activity, to the affected mice led to extended survival and inhibited further progression of cystogenesis. These results provide a correlation of kidney-targeted gene inactivation with renal carcinoma, and they suggest that the BHD product FLCN, functioning as a cyst and tumor suppressor, like other hamartoma syndrome-related proteins such as PTEN, LKB1, and TSC1/2, is a component of the mTOR pathway, constituting a novel FLCN-mTOR signaling branch that regulates cell growth/proliferation.

  10. Imaging features of tuberous sclerosis complex with autosomal-dominant polycystic kidney disease: a contiguous gene syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Back, Susan J. [The Children' s Hospital of Philadelphia, Department of Radiology, Philadelphia, PA (United States); Andronikou, Savvas [University of the Witwatersrand, Radiology Department, Faculty of Health Sciences, Johannesburg (South Africa); Kilborn, Tracy [University of Cape Town, Red Cross War Memorial Children' s Hospital, Cape Town (South Africa); Kaplan, Bernard S. [The Children' s Hospital of Philadelphia, Division of Nephrology, Philadelphia, PA (United States); University of Pennsylvania, Perelman School of Medicine, Philadelphia, PA (United States); Darge, Kassa [The Children' s Hospital of Philadelphia, Department of Radiology, Philadelphia, PA (United States); University of Pennsylvania, Perelman School of Medicine, Philadelphia, PA (United States)

    2015-03-01

    Genes for tuberous sclerosis complex (TSC) type 2 and autosomal-dominant polycystic kidney disease (ADPKD) type 1 are both encoded over a short segment of chromosome 16. When deletions involve both genes, an entity known as the TSC2/ADPKD1 contiguous gene syndrome, variable phenotypes of TSC and ADPKD are exhibited. This syndrome has not been reviewed in the radiology literature. Unlike renal cysts in TSC, cystic disease in TSC2/ADPKD1 contiguous gene syndrome results in hypertension and renal failure. A radiologist might demonstrate polycystic kidney disease before the patient develops other stigmata of TSC. Conversely, in patients with known TSC, enlarged and polycystic kidneys should signal the possibility of the TSC2/ADPKD1 contiguous gene syndrome and not simply TSC. Distinguishing these diagnoses has implications in prognosis, treatment and genetic counseling. To describe the clinical and imaging findings of tuberous sclerosis complex and polycystic kidney disease in seven pediatric patients. We retrospectively reviewed renal and brain imaging of children and young adults with genetically proven or high clinical suspicion for TSC2/ADPKD1 contiguous gene syndrome. We included seven pediatric patients from two referral institutions. Ages ranged from birth to 21 years over the course of imaging. The mean follow-up period was 9 years 8 months (4 years 6 months to 20 years 6 months). No child progressed to end-stage renal disease during this period. Three patients were initially imaged for stigmata of TSC, three for abdominal distension and one for elevated serum creatinine concentration. All patients developed enlarged, polycystic kidneys. The latest available imaging studies demonstrated that in 12 of the 14 kidneys 50% or more of the parenchyma was ultimately replaced by >15 cysts, resulting in significant cortical thinning. The largest cysts in each kidney ranged from 2.4 cm to 9.3 cm. Echogenic lesions were present in 13 of the 14 kidneys, in keeping with

  11. A mouse model for polycystic kidney disease through a somatic in-frame deletion in the 5' end of Pkd1.

    Science.gov (United States)

    Starremans, P G; Li, X; Finnerty, P E; Guo, L; Takakura, A; Neilson, E G; Zhou, J

    2008-06-01

    Autosomal dominant polycystic kidney disease, a leading cause of end-stage renal disease in adults, is characterized by progressive focal cyst formation in the kidney. Embryonic lethality of Pkd1-targeted mice limits the use of these mice. Here we developed a floxed allele of Pkd1 exons 2-6. Global deletion mutants developed polyhydramnios, hydrops fetalis, polycystic kidney and pancreatic disease. Somatic Pkd1 inactivation in the kidney was achieved by crossing Pkd1(flox) mice with transgenic mice expressing Cre controlled by a gamma-glutamyltranspeptidase promoter. These mutants developed cysts in both proximal and distal nephron segments and survived for about 4 weeks. Somatic loss of heterozygosity was shown in a reporter mouse strain to cause cystogenesis. Some cysts in young mice are positive for multiple tubular markers and a mesenchymal marker, suggesting a delay in tubular epithelial differentiation. A higher cell proliferation rate was observed in distal nephron segments probably accounting for the faster growth rate of distal cysts. Although we observed an overall increase in apoptosis in cystic kidneys, there was no difference between proximal or distal nephron segments. We also found increased cyclic AMP, aquaporin 2 and vasopressin type 2 receptor mRNA levels, and apical membrane translocation of aquaporin 2 in cystic kidneys, all of which may contribute to the differential cyst growth rate observed. The accelerated polycystic kidney phenotype of these mice provides an excellent model for studying molecular pathways of cystogenesis and to test therapeutic strategies. PMID:18385665

  12. Copeptin, a surrogate marker for vasopressin, is associated with kidney function decline in subjects with autosomal dominant polycystic kidney disease

    NARCIS (Netherlands)

    Boertien, Wendy E.; Meijer, Esther; Zittema, Debbie; van Dijk, Marjan A.; Rabelink, Ton J.; Breuning, Martijn H.; Struck, Joachim; Bakker, Stephan J. L.; Peters, Dorien J. M.; de Jong, Paul E.; Gansevoort, Ron T.

    2012-01-01

    The observational study by Boertin et al makes a valuable contribution to the research field of prevention and control of polycystic kidney disease, supports the assumption that copeptin is associated with disease severity in ADPKD and may have useful implications for the design of future clinical t

  13. Lillian Jean Kaplan International Prize for advancement in the understanding of polycystic kidney disease. Understanding polycystic kidney disease: a systems biology approach.

    Science.gov (United States)

    Grantham, Jared J

    2003-10-01

    Understanding polycystic kidney disease: A systems biology approach. Fluid secretion was discovered in the mammalian nephron in the early 1970s upon a chance observation. This finding aroused interest in the possibility that a similar process might be involved in the filling of renal epithelial cysts. A research strategy was formulated to understand the life cycle of human renal cysts using a systems biology approach. A not-for-profit foundation was begun to increase the number of researchers in the United States and abroad working on the polycystic kidney disease (PKD) problem. Primary outcomes related to PKD include (1). explication of the transport mechanisms underlying the transepithelial secretion of chloride, sodium and fluid, and the regulation of that secretion by cyclic adenosine monophosphate (AMP); (2). the discovery that cyclic AMP stimulates the proliferation of cyst epithelial cells through activation of of B-Raf and the mitogen-activated protein (MAP) kinase pathway; and (3). the discovery that normal medullary collecting ducts secrete solutes and fluid under the control of cyclic AMP. The Polycystic Kidney Disease Foundation has become an international leader in promoting the research of these disorders and is a strong advocate for increased translation of fundamental laboratory discoveries to the care of the millions of patients with PKD.

  14. Regional cyst concentration as a prognostic biomarker for polycystic kidney disease

    Science.gov (United States)

    Warner, Joshua D.; Irazabal, Maria V.; Torres, Vicente E.; King, Bernard F.; Erickson, Bradley J.

    2014-03-01

    Polycystic kidney disease (PKD) is a major cause of renal failure. Despite recent advances in understanding the biochemistry and genetics of PKD, the functional mechanisms underpinning the declines in renal function observed in the disorder are not well established. No studies investigating the distribution of cysts within polycystic kidneys exist. This work introduces regional cyst concentration as a new biomarker for evaluation of patients suffering from PKD. We derive a method to define central and peripheral regions of the kidney, approximating the anatomical division between cortex and medulla, and apply it to two cohorts of ten patients with early/mild or late/severe disease. Our results from the late/severe cohort show peripheral cyst concentration correlates with the current standard PKD biomarker, total kidney volume (TKV), signi cantly better than central cyst concentration (p cyst concentration was globally increased in the late/severe cohort (p cysts in PKD are not distributed homogeneously throughout the renal tissues.

  15. A stepwise approach for effective management of chronic pain in autosomal-dominant polycystic kidney disease

    NARCIS (Netherlands)

    Casteleijn, Niek F.; Visser, Folkert W.; Drenth, Joost P. H.; Gevers, Tom J. G.; Groen, Gerbrand J.; Hogan, Marie C.; Gansevoort, Ron T.

    2014-01-01

    Chronic pain, defined as pain existing for >4-6 weeks, affects >60% of patients with autosomal-dominant polycystic disease (ADPKD). It can have various causes, indirectly or directly related to the increase in kidney and liver volume in these patients. Chronic pain in ADPKD patients is often severe,

  16. Voicing the lifeworld: Parental accounts of responsibility in genetic consultations for polycystic kidney disease

    DEFF Research Database (Denmark)

    Clarke, Angus; Sarangi, Srikant; Verrier-Jones, Kate

    2011-01-01

    -risk children for autosomal dominant polycystic kidney disease (PKD) and the communication issues surrounding the testing process and the disclosing of test results. Based on eight audio-recorded and transcribed genetic consultations from the UK, and drawing upon rhetorical discourse analysis, our findings...

  17. Bilateral cysts in the choroid plexus in a patient with autosomal dominant polycystic kidney disease

    NARCIS (Netherlands)

    Casteleijn, Niek F.; Spithoven, Edwin M.; Rookmaaker, Maarten B.; Vergouwen, Mervyn D. I.; Gansevoort, Ron T.

    2015-01-01

    Autosomal dominant polycystic kidney disease (ADPKD) is a genetic systemic disorder, which is associated with cyst formation in several organs, renal function decline and a higher prevalence of intracranial aneurysms. We report a 52-year-old, otherwise healthy, man with ADPKD who had asymptomatic, b

  18. The effect of angiotensin-converting-enzyme inhibitors on progression of advanced polycystic kidney disease

    DEFF Research Database (Denmark)

    Jafar, Tazeen H; Stark, Paul C; Schmid, Christopher H;

    2005-01-01

    BACKGROUND: It is not known whether angiotensin-converting-enzyme (ACE) inhibitors slow the progression of polycystic kidney disease (PKD). We performed a patient-level meta-analysis to compare the effect of antihypertensive regimens, including ACE inhibitors, to those without ACE inhibitors...

  19. Spanish guidelines for the management of autosomal dominant polycystic kidney disease

    OpenAIRE

    E. Ars; Bernis, C.; Fraga, G.; Martínez, V.; Martins Muñoz, Judith Fátima; Ortiz, A.; Torra, R; Pérez, M. V.; Antón Pérez, G.; Furlano, M.; Ayasreh, N.

    2014-01-01

    Autosomal dominant polycystic kidney disease (ADPKD) is the most frequent cause of genetic renal disease and accounts for 6-10% of patients on renal replacement therapy (RRT). Very few prospective, randomized trials or clinical studies address the diagnosis and management of this relatively frequent disorder. No clinical guidelines are available to date. This is a consensus statement presenting the recommendations of the Spanish Working Group on Inherited Kidney Diseases, which were agreed to...

  20. Yersinia pseudotuberculosis aortitis in a patient with diverticulosis and polycystic kidney disease

    OpenAIRE

    McCloskey, Sarah; Haslam, Philip; Price, David A.; Sayer, John A.

    2015-01-01

    An 81-year-old gentleman with chronic kidney disease presented with pyrexia and a new systolic cardiac murmur. Investigations revealed infective aortitis of a pre-existing aortic aneurysm graft repair. Peripheral blood cultures were positive for Yersinia pseudotuberculosis and the patient was successfully treated with an extended course of antibiotics. Abdominal imaging also revealed progressive bilateral polycystic kidney disease with associated diverticular disease, which was postulated as ...

  1. Autosomal dominant polycystic kidney disease: new treatment options and how to test their efficacy

    OpenAIRE

    Wüthrich, R.P.; Serra, A. L.; Kistler, A.D.

    2009-01-01

    Autosomal dominant polycystic kidney disease (ADPKD) represents a slowly progressing cystic kidney disorder which evolves into end-stage renal disease in the majority of patients. Currently, there are no established treatments to retard the progression of the disease, but several promising therapeutic options are being tested in ongoing clinical trials. An inherent dilemma for the investigation of therapies in ADPKD is the dissociation of the early onset and constant rate of cyst growth from ...

  2. Polycystic kidney disease gene in the Lewis polycystic kidney rat is mapped to chromosome 10q21–q26

    Directory of Open Access Journals (Sweden)

    Yengkopiong JP

    2012-08-01

    Full Text Available Jada Pasquale YengkopiongDr John Garang Memorial University of Science and Technology, Faculty of Science and Technology, Bor, Republic of South SudanBackground: Polycystic kidney disease (PKD is a life-threatening disorder that affects the kidneys of millions of people across the world. The disease is normally inherited, but it can also be acquired, and leads to development of many cysts in the renal nephrons. In this study, the aim was to characterize PKD in the Lewis polycystic kidney (LPK rat, the newest model for human PKD.Methods: Mating experiments were performed between male LPK rats with PKD and female Brown Norway and Wistar Kyoto rats without PKD to raise second filial (F2 and backcross 1 (BC1 progeny, respectively. Rats that developed PKD were identified. Histological examination of the kidneys and liver was performed. Liver tissue samples were collected from each rat and used to extract DNA. The extracted DNA was amplified, and mapping and linkage analyses were performed to identify the quantitative trait locus that controlled the disease phenotypes.Results: It was established that the disease was controlled by a recessive mutation in a single gene (F2: PKD = 42, non-PKD = 110, χ2 = 0.53; BC1: PKD = 67, non-PKD = 72, χ2 = 0.18, P > 0.05 and that the disease was inherited as autosomal recessive polycystic kidney disease (ARPKD. The rats with PKD developed larger fluid-filled cystic kidneys, higher systolic blood pressure, and anemia. However, there were no extrarenal cysts and no pup deaths. Mapping studies and linkage analyses associated the disease phenotypes in both the F2 and BC1 rats to chromosome 10q21–q26, giving a maximum LOD score of 7.9 (P = 0.00001 between peak markers D10Rat180 and D10Rat26.Conclusion: The quantitative trait locus on chromosome 10q21–q26 does not contain the Pkhd-1 gene, and it is different from quantitative trait loci that control ARPKD in other murine models. The candidate genes located in the

  3. Kidney Stones in Adults

    Science.gov (United States)

    ... may also help prevent kidney stones, such as orange juice or lemonade. Talk with your health care ... perform a physical exam and take a medical history. The health care provider may perform urine, blood, ...

  4. Copeptin, a Surrogate Marker of Vasopressin, Is Associated with Disease Severity in Autosomal Dominant Polycystic Kidney Disease

    NARCIS (Netherlands)

    Meijer, Esther; Bakker, Stephan J. L.; van der Jagt, Eric J.; Navis, Gerjan; de Jong, Paul E.; Struck, Joachim; Gansevoort, Ron T.

    2011-01-01

    Background and objectives Experimental studies suggest a detrimental role for vasopressin in the pathogenesis of autosomal dominant polycystic kidney disease (ADPKD). However, it is unknown whether endogenous vasopressin concentration is associated with disease severity in patients with ADPKD. Desig

  5. Association of Urinary Biomarkers With Disease Severity in Patients With Autosomal Dominant Polycystic Kidney Disease : A Cross-sectional Analysis

    NARCIS (Netherlands)

    Meijer, Esther; Boertien, Wendy E.; Nauta, Ferdau L.; Bakker, Stephan J. L.; van Oeveren, Wim; Rook, Mieneke; van der Jagt, Eric J.; van Goor, Harry; Peters, Dorien J. M.; Navis, Gerjan; de Jong, Paul E.; Gansevoort, Ron T.

    2010-01-01

    Background: Disease monitoring of autosomal dominant polycystic kidney disease (ADPKD) will become more important with potential upcoming therapeutic interventions. Because serum creatinine level is considered of limited use and measurement of effective renal blood flow (ERBF) and total renal volume

  6. Association of Urinary Biomarkers With Disease Severity in Patients With Autosomal Dominant Polycystic Kidney Disease: A Cross-sectional Analysis

    NARCIS (Netherlands)

    Meijer, E.; Boertien, Wendy; Nauta, Ferdau; Bakker, Stephan; van Oeveren, W.; Rook, M.; van der Jagt, E.J.; van Goor, H.; Peters, D.J.M.; Navis, Ger Jan; De Jong, P.E.; Gansevoort, Maarten

    2010-01-01

    Background: Disease monitoring of autosomal dominant polycystic kidney disease (ADPKD) will become more important with potential upcoming therapeutic interventions. Because serum creatinine level is considered of limited use and measurement of effective renal blood flow (ERBF) and total renal volume

  7. The renin-angiotensin system and hypertension in autosomal recessive polycystic kidney disease.

    Science.gov (United States)

    Goto, Miwa; Hoxha, Nita; Osman, Rania; Dell, Katherine Macrae

    2010-12-01

    Hypertension is a well-recognized complication of autosomal recessive polycystic kidney disease (ARPKD). The renin-angiotensin system (RAS) is a key regulator of blood pressure; however, data on the RAS in ARPKD are limited and conflicting, showing both up- and down-regulation. In the current study, we characterized intrarenal and systemic RAS activation in relationship to hypertension and progressive cystic kidney disease in the ARPKD orthologous polycystic kidney (PCK) rat. Clinical and histological measures of kidney disease, kidney RAS gene expression by quantitative real-time PCR, angiotensin II (Ang II) immunohistochemistry, and systemic Ang I and II levels were assessed in 2-, 4-, and 6-month-old cystic PCK and age-matched normal rats. PCK rats developed hypertension and progressive cystic kidney disease without significant worsening of renal function or relative kidney size. Intrarenal renin, ACE and Ang II expression was increased significantly in cystic kidneys; angiotensinogen and Ang II Type I receptor were unchanged. Systemic Ang I and II levels did not differ. This study demonstrates that intrarenal, but not systemic, RAS activation is a prominent feature of ARPKD. These findings help reconcile previous conflicting reports and suggest that intrarenal renin and ACE gene upregulation may represent a novel mechanism for hypertension development or exacerbation in ARPKD.

  8. A comparison of ultrasound and magnetic resonance imaging shows kidney length predicts chronic kidney disease in autosomal dominant polycystic kidney disease

    OpenAIRE

    Bhutani, Harpreet; Smith, Vikram; Rahbari-Oskoui, Frederic; Mittal, Ankush; Grantham, Jared J.; Torres, Vicente E.; Mrug, Michal; Bae, Kyongtae T.; Wu, Zhiyuan; Ge, Yinghui; Landslittel, Doug; Gibbs, Patrice; O’Neill, W. Charles; Arlene B Chapman; ,

    2015-01-01

    ADPKD is marked by gradual renal cyst and kidney enlargement and ultimately renal failure. Magnetic resonance-based, height-adjusted total kidney volume (htTKV) over 600 ml/m predicts the development of CKD Stage 3 within 8 years in the Consortium for Radiologic Imaging in Polycystic Kidney Disease cohort. Here we compared simultaneous ultrasound and magnetic resonance imaging to determine if ultrasound and kidney length (KL) predict future CKD Stage 3 over longer periods of follow-up. A tota...

  9. Constitutive renal Rel/nuclear factor-κB expression in Lewis polycystic kidney disease rats

    Science.gov (United States)

    Ta, Michelle H T; Schwensen, Kristina G; Liuwantara, David; Huso, David L; Watnick, Terry; Rangan, Gopala K

    2016-01-01

    AIM: To determine the temporal expression and pattern of Rel/nuclear factor (NF)-κB proteins in renal tissue in polycystic kidney disease (PKD). METHODS: The renal expression of Rel/NF-κB proteins was determined by immunohistochemistry, immunofluorescence and immunoblot analysis in Lewis polycystic kidney rats (LPK, a genetic ortholog of human nephronopthsis-9) from postnatal weeks 3 to 20. At each timepoint, renal disease progression and the mRNA expression of NF-κB-dependent genes (TNFα and CCL2) were determined. NF-κB was also histologically assessed in human PKD tissue. RESULTS: Progressive kidney enlargement in LPK rats was accompanied by increased renal cell proliferation and interstitial monocyte accumulation (peaking at weeks 3 and 10 respectively), and progressive interstitial fibrosis (with α smooth muscle actin and Sirius Red deposition significantly increased compared to Lewis kidneys from weeks 3 to 6 onwards). Rel/NF-κB proteins (phosphorylated-p105, p65, p50, c-Rel and RelB) were expressed in cystic epithelial cells (CECs) of LPK kidneys as early as postnatal week 3 and sustained until late-stage disease at week 20. From weeks 10 to 20, nuclear p65, p50, RelB and cytoplasmic IκBα protein levels, and TNFα and CCL2 expression, were upregulated in LPK compared to Lewis kidneys. NF-κB proteins were consistently expressed in CECs of human PKD. The DNA damage marker γ-H2AX was also identified in the CECs of LPK and human polycystic kidneys. CONCLUSION: Several NF-κB proteins are consistently expressed in CECs in human and experimental PKD. These data suggest that the upregulation of both the canonical and non-canonical pathways of NF-κB signaling may be a constitutive and early pathological feature of cystic renal diseases. PMID:27458563

  10. Laparoscopic biopsy-proven lupus nephritis in autosomal dominant polycystic kidney disease

    OpenAIRE

    Park, Ji In; Lee, Hajeong; An, Jung Nam; Chin, Ho Jun; Kim, Suhnggwon

    2012-01-01

    A 48-year-old woman with autosomal dominant polycystic kidney disease (ADPKD) presented with generalized edema and arthralgia. She showed evidences of acute glomerulonephritis including nephrotic-ranged proteinuria. Because her serologic test results were consistent with those for systemic lupus erythematosus (SLE), we performed laparoscopic renal biopsy that confirmed World Health Organization (WHO) class IV lupus nephritis. She was treated with steroids and intravenous cyclophosphamide puls...

  11. Recurrent Acute Pancreatitis and Cholangitis in a Patient with Autosomal Dominant Polycystic Kidney Disease

    OpenAIRE

    Kambiz Yazdanpanah; Navid Manouchehri; Elinaz Hosseinzadeh; Mohammad Hassan Emami; Mehdi Karami; Amir Hossein Sarrami

    2013-01-01

    Autosomal dominant polycystic kidney disease (ADPKD) is an inherited disorder associated with multiple cyst formation in the different organs. Development of pancreatic cyst in ADPKD is often asymptomatic and is associated with no complication. A 38-year-old man with ADPKD was presented with six episodes of acute pancreatitis and two episodes of cholangitis in a period of 12 months. Various imaging studies revealed multiple renal, hepatic and pancreatic cysts, mild ectasia of pancreatic duct,...

  12. Abdominal Aortic Dissection in a Patient With Autosomal Dominant Polycystic Kidney Disease After Starting Peritoneal Dialysis

    Directory of Open Access Journals (Sweden)

    Yingying He

    2014-07-01

    Full Text Available Autosomal dominant polycystic kidney disease (ADPKD, one of the most common genetic disorders, is caused by mutations in the PKD1 or PKD2 gene. ADPKD primarily affects the kidneys, causing the development of multiple bilateral cysts that are characteristic of this condition. Besides renal abnormalities, other manifestations of ADPKD include hepatic, pancreatic, and splenic cysts, intracranial aneurysms, aortic aneurysms, and mitral valve prolapse. Reports of ADPKD-associated abdominal aortic dissections are not rare, but there have been no reports of an ADPKD patient developing intestinal obstruction and abdominal aortic dissection after initiating peritoneal dialysis. Herein, we present one such case.

  13. Will introduction of tolvaptan change clinical practice in autosomal dominant polycystic kidney disease?

    Science.gov (United States)

    Horie, Shigeo

    2015-07-01

    The vasopressin inhibitor tolvaptan is clinically effective in slowing growth of renal cysts and reduction in estimated glomerular filtration rate (eGFR) in autosomal dominant polycystic kidney disease (ADPKD), but these effects are mitigated by the associated polyuria. Changes of total kidney volume, eGFR, and symptoms will guide physicians and patients in tolvaptan treatment. Guidance about when to initiate treatment in the course of ADPKD may be forthcoming. Ongoing long-term observations will inform future recommendations about tolvaptan use in ADPKD. PMID:26126090

  14. Total Kidney Volume in Autosomal Dominant Polycystic Kidney Disease: A Biomarker of Disease Progression and Therapeutic Efficacy.

    Science.gov (United States)

    Alam, Ahsan; Dahl, Neera K; Lipschutz, Joshua H; Rossetti, Sandro; Smith, Patricia; Sapir, Daniel; Weinstein, Jordan; McFarlane, Philip; Bichet, Daniel G

    2015-10-01

    Autosomal dominant polycystic kidney disease (ADPKD) is the most common potentially life-threatening monogenic disorder in humans, characterized by progressive development and expansion of fluid-filled cysts in the kidneys and other organs. Ongoing cyst growth leads to progressive kidney enlargement, whereas kidney function remains stable for decades as a result of hyperfiltration and compensation by unaffected nephrons. Kidney function irreversibly declines only in the late stages of the disease, when most of the parenchyma is lost to cystic and fibrotic tissue and the remaining compensatory capacity is overwhelmed. Hence, conventional kidney function measures, such as glomerular filtration rate, do not adequately assess disease progression in ADPKD, especially in its early stages. Given the recent development of potential targeted therapies in ADPKD, it has become critically important to identify relevant biomarkers that can be used to determine the degree of disease progression and evaluate the effects of therapeutic interventions on the course of the disease. We review the current evidence to provide an informed perspective on whether total kidney volume (TKV) is a suitable biomarker for disease progression and whether TKV can be used as an efficacy end point in clinical trials. We conclude that because cystogenesis is the central factor leading to kidney enlargement, TKV appears to be an appropriate biomarker and is gaining wider acceptance. Several studies have identified TKV as a relevant imaging biomarker for monitoring and predicting disease progression and support its use as a prognostic end point in clinical trials.

  15. Autosomal dominant polycystic kidney disease with diffuse proliferative glomerulonephritis - an unusual association: a case report and review of the literature

    Directory of Open Access Journals (Sweden)

    Kapoor Vinay

    2010-04-01

    Full Text Available Abstract Introduction Autosomal dominant polycystic kidney disease is an inherited disorder that is characterized by the development and growth of cysts in the kidneys and other organs. Urinary protein excretion is usually less than 1 g/24 hours in autosomal dominant polycystic kidney disease, and an association of nephrotic syndrome with this condition is considered rare. There are only anecdotal case reports of autosomal dominant polycystic kidney disease associated with nephrotic syndrome, with focal segmental glomerulosclerosis being the most commonly reported histopathological diagnosis. Nephrotic-range proteinuria in the presence of autosomal dominant polycystic kidney disease, with or without an accompanying decline in renal function, should be investigated by open renal biopsy to exclude coexisting glomerular disease. To the best of our knowledge, this is the first case of autosomal dominant polycystic kidney disease with histologically proven diffuse proliferative glomerulonephritis presenting with nephrotic-range proteinuria. No other reports of this could be found in a global electronic search of the literature. Case presentation We report the case of a 35-year-old Indo-Aryan man with autosomal dominant polycystic kidney disease associated with nephrotic syndrome and a concomitant decline in his glomerular filtration rate. Open renal biopsy revealed diffuse proliferative glomerulonephritis. An accurate diagnosis enabled us to manage him conservatively with a successful outcome, without the use of corticosteroid which is the standard treatment and the drug most commonly used to treat nephrotic syndrome empirically. Conclusion Despite the reluctance of physicians to carry out a renal biopsy on patients with autosomal dominant polycystic kidney disease, our case supports the idea that renal biopsy is needed in patients with polycystic kidney disease with nephrotic-range proteinuria to make an accurate diagnosis. It also illustrates the

  16. Assessment of photoacoustic computed tomography to classify tissue in a polycystic-kidney disease mouse model

    Science.gov (United States)

    Liu, Bo; Gattone, Vincent H., II; Kruger, Robert A.; Stantz, Keith M.

    2006-02-01

    Purpose: The purpose of this study is to evaluate PCT Imaging technique to classify tissue and extract kidney cysts in pcy mice model of human adolescent nephronophthisis. Method: Four mice with late stages of nephronophthisis with polycystic kidney disease-PKD and one normal mouse were scanned in the PCT Small Animal Scanner. Both vivo and ex-vivo images of mice kidney were taken at wavelength from 680 nm to 940 nm. The ex-vivo PCT images were compared with histology photographs to check the sensitivity of detecting cysts. Histograms of kidney images were generated over slices and fitted to Gaussian-curve model for volumetric analysis. The portions of cysts in kidneys were estimated and kidney images were segmented by three different colors to present the distribution of different tissues. Result: A good correspondence between PCT imaging findings and PKD histology result was observed. Histogram curves from images of pcy kidneys and normal kidneys were fitted to Gaussian-curve model. Portions of cysts, parenchyma and area of high level hemoglobin were estimated according to the curve fit result. A growth of cysts associated with relatively volume decrease of parenchyma and tissues with high perfusion of hemoglobin was observed. Conclusion: The PCT enabled visualization of renal cysts for mouse model and had the potential for volumetric measurements of kidney.

  17. A possible zebrafish model of polycystic kidney disease: knockdown of wnt5a causes cysts in zebrafish kidneys.

    Science.gov (United States)

    Huang, Liwei; Xiao, An; Wecker, Andrea; McBride, Daniel A; Choi, Soo Young; Zhou, Weibin; Lipschutz, Joshua H

    2014-12-02

    Polycystic kidney disease (PKD) is one of the most common causes of end-stage kidney disease, a devastating disease for which there is no cure. The molecular mechanisms leading to cyst formation in PKD remain somewhat unclear, but many genes are thought to be involved. Wnt5a is a non-canonical glycoprotein that regulates a wide range of developmental processes. Wnt5a works through the planar cell polarity (PCP) pathway that regulates oriented cell division during renal tubular cell elongation. Defects of the PCP pathway have been found to cause kidney cyst formation. Our paper describes a method for developing a zebrafish cystic kidney disease model by knockdown of the wnt5a gene with wnt5a antisense morpholino (MO) oligonucleotides. Tg(wt1b:GFP) transgenic zebrafish were used to visualize kidney structure and kidney cysts following wnt5a knockdown. Two distinct antisense MOs (AUG - and splice-site) were used and both resulted in curly tail down phenotype and cyst formation after wnt5a knockdown. Injection of mouse Wnt5a mRNA, resistant to the MOs due to a difference in primary base pair structure, rescued the abnormal phenotype, demonstrating that the phenotype was not due to "off-target" effects of the morpholino. This work supports the validity of using a zebrafish model to study wnt5a function in the kidney.

  18. Pyrrolidine dithiocarbamate reduces the progression of total kidney volume and cyst enlargement in experimental polycystic kidney disease.

    Science.gov (United States)

    Ta, Michelle H T; Rao, Padmashree; Korgaonkar, Mayuresh; Foster, Sheryl F; Peduto, Anthony; Harris, David C H; Rangan, Gopala K

    2014-12-01

    Heterocyclic dithiocarbamates have anti-inflammatory and anti-proliferative effects in rodent models of chronic kidney disease. In this study, we tested the hypothesis that pyrrolidine dithiocarbamate (PDTC) reduces the progression of polycystic kidney disease (PKD). Male Lewis polycystic kidney (LPK) rats (an ortholog of Nek8/NPHP9) received intraperitoneal injections of either saline vehicle or PDTC (40 mg/kg once or twice daily) from postnatal weeks 4 until 11. By serial magnetic resonance imaging at weeks 5 and 10, the relative within-rat increase in total kidney volume and cyst volume were 1.3-fold (P = 0.01) and 1.4-fold (P < 0.01) greater, respectively, in LPK + Vehicle compared to the LPK + PDTC(40 mg/kg twice daily) group. At week 11 in LPK rats, PDTC attenuated the increase in kidney weight to body weight ratio by 25% (P < 0.01) and proteinuria by 66% (P < 0.05 vs. LPK + Vehicle) but did not improve renal dysfunction. By quantitative whole-slide image analysis, PDTC did not alter interstitial CD68+ cell accumulation, interstitial fibrosis, or renal cell proliferation in LPK rats at week 11. The phosphorylated form of the nuclear factor (NF)-κB subunit, p105, was increased in cystic epithelial cells of LPK rats, but was not altered by PDTC. Moreover, PDTC did not significantly alter nuclear expression of the p50 subunit or NF-κB (p65)-DNA binding. Kidney enlargement in LPK rats was resistant to chronic treatment with a proteasome inhibitor, bortezomib. In conclusion, PDTC reduced renal cystic enlargement and proteinuria but lacked anti-inflammatory effects in LPK rats. PMID:25501440

  19. ADAM17 promotes proliferation of collecting duct kidney epithelial cells through ERK activation and increased glycolysis in polycystic kidney disease.

    Science.gov (United States)

    Beck Gooz, Monika; Maldonado, Eduardo N; Dang, Yujing; Amria, May Y; Higashiyama, Shigeki; Abboud, Hanna E; Lemasters, John J; Bell, P Darwin

    2014-09-01

    Polycystic kidney disease (PKD) is a common genetic disorder leading to cyst formation in the kidneys and other organs that ultimately results in kidney failure and death. Currently, there is no therapy for slowing down or stopping the progression of PKD. In this study, we identified the disintegrin metalloenzyme 17 (ADAM17) as a key regulator of cell proliferation in kidney tissues of conditional knockout Ift88(-/-) mice and collecting duct epithelial cells from Ift88°(rpk) mice, animal models of autosomal recessive polycystic kidney disease (ARPKD). Using Western blotting, an enzyme activity assay, and a growth factor-shedding assay in the presence or absence of the specific ADAM17 inhibitor TMI-005, we show that increased expression and activation of ADAM17 in the cystic kidney and in collecting duct epithelial cells originating from the Ift88°(rpk) mice (designated as PKD cells) lead to constitutive shedding of several growth factors, including heparin-binding EGF-like growth factor (HB-EGF), amphiregulin, and transforming growth factor-α (TGF-α). Increased growth factor shedding induces activation of the EGFR/MAPK/ERK pathway and maintains higher cell proliferation rate in PKD cells compared with control cells. PKD cells also displayed increased lactate formation and extracellular acidification indicative of aerobic glycolysis (Warburg effect), which was blocked by ADAM17 inhibition. We propose that ADAM17 is a key promoter of cellular proliferation in PKD cells by activating the EGFR/ERK axis and a proproliferative glycolytic phenotype. PMID:24899059

  20. Embolization of polycystic kidneys as an alternative to nephrectomy before renal transplantation: a pilot study.

    Science.gov (United States)

    Cornelis, F; Couzi, L; Le Bras, Y; Hubrecht, R; Dodré, E; Geneviève, M; Pérot, V; Wallerand, H; Ferrière, J M; Merville, P; Grenier, N

    2010-10-01

    In autosomal polycystic kidney disease, nephrectomy is required before transplantation if kidney volume is excessive. We evaluated the effectiveness of transcatheter arterial embolization (TAE) to obtain sufficient volume reduction for graft implantation. From March 2007 to December 2009, 25 patients with kidneys descending below the iliac crest had unilateral renal TAE associated with a postembolization syndrome protocol. Volume reduction was evaluated by CT before, 3, and 6 months after embolization. The strategy was considered a success if the temporary contraindication for renal transplantation could be withdrawn within 6 months after TAE. TAE was well tolerated and the objective was reached in 21 patients. The temporary contraindication for transplantation was withdrawn within 3 months after TAE in 9 patients and within 6 months in 12 additional patients. The mean reduction in volume was 42% at 3 months (p = 0.01) and 54% at 6 months (p = 0.001). One patient required a cyst sclerosis to reach the objective. The absence of sufficient volume reduction was due to an excessive basal renal volume, a missed accessory artery and/or renal artery revascularization. Embolization of enlarged polycystic kidneys appears to be an advantageous alternative to nephrectomy before renal transplantation.

  1. Autosomal dominant polycystic liver disease in a family without polycystic kidney disease associated with a novel missense protein kinase C substrate 80K-H mutation

    Institute of Scientific and Technical Information of China (English)

    Ramón Peces; Joost PH Drenth; Rene HM te Morsche; Pedro González; Carlos Peces

    2005-01-01

    Polycystic liver disease (PLD) is characterized by the presence of multiple bile duct-derived epithelial cysts scattered in the liver parenchyma. PLD can manifest itself in patients with severe autosomal dominant polycystic kidney disease (ADPKD). Isolated autosomal dominant polycystic liver disease (ADPLD) is genetically distinct from PLD associated with ADPKD, although it may have similar pathogenesis and clinical manifestations.Recently, mutations in two causative genes for ADPLD,independently from ADPKD, have been identified. We report here a family (a mother and her daughter) with a severe form of ADPLD not associated with ADPKD produced by a novel missense protein kinase C substrate 80K-H (PRKCSH) mutation (R281W). This mutation causes a severe phenotype, since the two affected subjects manifested signs of portal hypertension. Doppler sonography, computed tomography (CT) and magnetic resonance (MR) imaging are effective in documenting the underlying lesions in a non-invasive way.

  2. Case Report: Whole-exome analysis of a child with polycystic kidney disease and ventriculomegaly.

    Science.gov (United States)

    Nabhan, M M; Abdelaziz, H; Xu, Y; El Sayed, R; Santibanez-Koref, M; Soliman, N A; Sayer, J A

    2015-04-17

    Autosomal recessive polycystic kidney disease (ARPKD) is an inherited ciliopathy leading to progressive kidney and liver disease. Biallelic mutations in the PKHD1 gene underlie this condition. We describe a child with bilaterally enlarged cystic kidneys, portal hypertension, and cerebral ventriculomegaly. Molecular genetic investigations using whole-exome sequencing and confirmation using Sanger sequencing revealed a homozygous pathogenic mutation in PKHD1 underlying the clinical phenotype of ARPKD. Whole-exome data analysis was used to search for additional rare variants in additional ciliopathy genes that may have contributed to the unusual brain phenotype. Aside from a rare hypomorphic allele in MKS1, no other pathogenic variants were detected. We conclude that the homozygous pathogenic mutation in PKHD1 underlies the ciliopathy phenotype in this patient.

  3. Gpr48 deficiency induces polycystic kidney lesions and renal fibrosis in mice by activating Wnt signal pathway.

    Directory of Open Access Journals (Sweden)

    Yongyan Dang

    Full Text Available G protein-coupled receptor 48 (Gpr48/Lgr4 is essential to regulate the development of multiple tissues in mice. The notion that Gpr48 functions in renal development prompted us to investigate the relation between Gpr48 and renal diseases. Using a Gpr48 knockout mice model, we observed that 66.7% Gpr48 null mice developed polycystic lesions in the kidney, while no cysts were observed in the kidneys of wild-type mice. Polycystic kidney disease 1 (PKD1 and PKD2 expressions were also markedly decreased in the Gpr48 knockout mice. Abnormal expressions of exra-cellular matrix protein lead to the progression of polycystic kidney disease and the formation of renal fibrosis in the Gpr48 null mice. The expressions of several Wnt molecules and its receptors were increased and marked β-catenin nuclear accumulation was observed in the Gpr48 null mice. The inhibitors of Wnt/β-catenin signal pathway such as GSK3β and axin2 were loss of function. The Wnt/PCP signaling pathway is also activated in Gpr48 null mice. However, TGF-β expression and phosphorylated Smad2/3 levels were not altered. Collectively, our results showed that Gpr48 null mice are at a greater risk of suffering from polycystic lesions and renal fibrosis. Moreover, the formation of polycystic lesions and renal fibrosis induced by Gpr48 deficiency involves the activation of Wnt signaling pathway but not the TGF-β/Smad pathway.

  4. 多囊肾成人患者应用后腹腔镜肾囊肿去顶减压术的临床研究%Clinical study of renal cyst top removeing decompression with retroperitoneoscopy in adult patients with polycystic kidney

    Institute of Scientific and Technical Information of China (English)

    陈志华

    2015-01-01

    目的:研究多囊肾成人患者应用后腹腔镜肾囊肿去顶减压术的临床疗效。方法将我院2010年2月~2013年2月确诊并收治的79例成人型多囊肾患者纳入临床组,本组患者全部实施后腹腔镜肾囊肿去顶减压术,按照分期单侧治疗规则来进行。同时,对我院2008年4月~2009年11月确诊并收治的成人型多囊肾患者共计79份病历资料进行回顾性分析,纳入对照组。对照组病例均通过实施开放性肾囊肿去顶术进行治疗。统计两组手术时间、失血量、肠道功能恢复时间、下床活动时间及住院天数,并对所有患者实施为期15个月的临床随访,对比两组患者收缩压、舒张压、血肌酐、血尿素氮的指标改善情况。结果所有患者均顺利完成手术,患者在术中及术后均未有显著并发症出现。临床组其手术时见、失血量、肠道功能术后恢复时间、下床活动时间及住院件数均显著少于对照组(P<0.05)。随访期间所有患者腰部酸胀疼痛症状均显著改善或完全消失,实施肾脏彩色多普勒超声检查显示未见囊肿复发。两组手术3个月后血压及肾功均比治疗前显著改善(P<0.05),而两组手术3个月后血压及肾功其改善幅度差异无统计学意义(P>0.05)。结论多囊肾成人患者应用后腹腔镜肾囊肿去顶减压术在保障与常规开腹同等疗效的前提下,其创伤更小、更有利于术后恢复。%ObjectiveTo study the clinical effect of renal cyst top removeing decompression with retroperitoneoscopy in adult patients with polycystic kidney. Methods79 adult patients with polycystic kidney were treated with renal cyst top removeing decompression via retroperitoneoscopy by the unilaterally treatment at different stage in our hospital from February 2010 to February 2013,while the other 79 adult patients with polycystic kidney who were diagnosed and treated with open renal cyst

  5. Clinical Correlates of Mass Effect in Autosomal Dominant Polycystic Kidney Disease.

    Directory of Open Access Journals (Sweden)

    Hyunsuk Kim

    Full Text Available Mass effect from polycystic kidney and liver enlargement can result in significant clinical complications and symptoms in autosomal dominant polycystic kidney disease (ADPKD. In this single-center study, we examined the correlation of height-adjusted total liver volume (htTLV and total kidney volume (htTKV by CT imaging with hepatic complications (n = 461 and abdominal symptoms (n = 253 in patients with ADPKD. "Mass-effect" complications were assessed by review of medical records and abdominal symptoms, by a standardized research questionnaire. Overall, 91.8% of patients had 4 or more liver cysts on CT scans. Polycystic liver disease (PLD was classified as none or mild (htTLV < 1,600 mL/m; moderate (1,600 ≤ htTLV <3,200 mL/m; and severe (htTLV ≥ 3,200 mL/m. The prevalence of moderate and severe PLD in our patient cohort was 11.7% (n = 54/461 and 4.8% (n = 22/461, respectively, with a female predominance in both the moderate (61.1% and severe (95.5% PLD groups. Pressure-related complications such as leg edema (20.4%, ascites (16.6%, and hernia (3.6% were common, and patients with moderate to severe PLD exhibited a 6-fold increased risk (compared to no or mild PLD for these complications in multivariate analysis. Similarly, abdominal symptoms including back pain (58.8%, flank pain (53.1%, abdominal fullness (46.5%, and dyspnea/chest-discomfort (44.3% were very common, and patients with moderate to severe PLD exhibited a 5-fold increased risk for these symptoms. Moderate to severe PLD is a common and clinically important problem in ~16% of patients with ADPKD who may benefit from referral to specialized centers for further management.

  6. Birth weight and polycystic ovary syndrome in adult life

    DEFF Research Database (Denmark)

    Mumm, Hanne; Kamper-Jørgensen, Mads; Nybo Andersen, Anne-Marie;

    2013-01-01

    was followed up in the NPR for PCOS diagnoses from age 15 years until the end of 2006. Furthermore, information on maternal diabetes diagnoses was extracted from the NPR. RESULT(S): The risk of PCOS was significantly increased in women with birth weight =4,500 g (incidence rate ratio, 1.57; 95% confidence......OBJECTIVE: To study the association between birth weight and polycystic ovary syndrome (PCOS) in adult life in Danish women born 1973-1991. DESIGN: Register study. SETTING: Data were extracted from the Danish Medical Birth Register and the Danish National Patient Register (NPR). PATIENT(S): All...... female children born of Danish mothers in Denmark between 1973 and 1991 were included (n = 523,757) and followed for a total of 4,739,547 person-years at risk. INTERVENTION(S): None. MAIN OUTCOME MEASURE(S): Information on birth weight was extracted from the Danish Medical Birth Register. The cohort...

  7. Autosomal dominant polycystic kidney disease: recent advances in clinical management [version 1; referees: 2 approved

    Directory of Open Access Journals (Sweden)

    Zhiguo Mao

    2016-08-01

    Full Text Available The first clinical descriptions of autosomal dominant polycystic kidney disease (ADPKD go back at least 500 years to the late 16th century. Advances in understanding disease presentation and pathophysiology have mirrored the progress of clinical medicine in anatomy, pathology, physiology, cell biology, and genetics. The identification of PKD1 and PKD2, the major genes mutated in ADPKD, has stimulated major advances, which in turn have led to the first approved drug for this disorder and a fresh reassessment of patient management in the 21st century. In this commentary, we consider how clinical management is likely to change in the coming decade.

  8. Multifocal renal cell carcinoma of different histological subtypes in autosomal dominant polycystic kidney disease.

    Science.gov (United States)

    Na, Ki Yong; Kim, Hyun-Soo; Park, Yong-Koo; Chang, Sung-Goo; Kim, Youn Wha

    2012-08-01

    Renal cell carcinoma (RCC) in autosomal dominant polycystic kidney (ADPKD) is rare. To date, 54 cases of RCC in ADPKD have been reported. Among these, only 2 cases have different histologic types of RCC. Here we describe a 45-year-old man who received radical nephrectomy for multifocal RCC with synchronous papillary and clear cell histology in ADPKD and chronic renal failure under regular hemodialysis. The case reported herein is another example of the rare pathological finding of RCC arising in a patient with ADPKD.

  9. Cyst growth, polycystins, and primary cilia in autosomal dominant polycystic kidney disease

    OpenAIRE

    Lee, Seung Hun; Somlo, Stefan

    2014-01-01

    The primary cilium of renal epithelia acts as a transducer of extracellular stimuli. Polycystin (PC)1 is the protein encoded by the PKD1 gene that is responsible for the most common and severe form of autosomal dominant polycystic kidney disease (ADPKD). PC1 forms a complex with PC2 via their respective carboxy-terminal tails. Both proteins are expressed in the primary cilia. Mutations in either gene affect the normal architecture of renal tubules, giving rise to ADPKD. PC1 has been proposed ...

  10. Intestinal perforation after combined liver-kidney transplantation for a case of congenital polycystic disease

    Institute of Scientific and Technical Information of China (English)

    Tao Peng; Bin Chen; Qin Zhong; Min-Yi Wei; Min-Hao Peng; Le-Qun Li; Yao-Liang Deng; Ding-Hua Yang; Bang-Yu Lu; Xi-Gang Chen; Ya Guo; Kai-Yin Xiao

    2004-01-01

    AIM: To highlight the intestinal perforation (IP), an uncommon and catastrophic complication after combined liver-kidney transplantation.METHODS: Combined liver-kidney transplantation (LKTx) with left kidney excision and a cyst fenestration procedure on the right kidney were performed on a case of 46-year-old female with congenital polycystic disease (CPCD). RFSULTS: Two sites of IP were noted 40-50 cm proximal to ileocecal area during emergent laparotomy 10 d postoperatively.Despite aggressive surgical and medical management, disease progressed toward a fatal outcome due to sepsis and multiple organ failure 11 d later. CONCLUSION: Long duration of operation without venovenous bypass, overdose of steroid together with postoperative volume excess may all contribute to the risk of idiopathic multiple IPs. Microbiology and pathology inspections suggested that the infected cyst of the fenestrated kidney might be one reason for the fatal intra-peritoneal infection. Thus for the CPCD patients who seem to be very susceptible to infectious complications, any sign of suspected renal-infection found before or during LKTx is indication for the excision of original kidney. And the intensity of immunosuppression therapy should be controlled cautiously.

  11. Determinants of renal tissue hypoxia in a rat model of polycystic kidney disease.

    Science.gov (United States)

    Ow, Connie P C; Abdelkader, Amany; Hilliard, Lucinda M; Phillips, Jacqueline K; Evans, Roger G

    2014-11-15

    Renal tissue oxygen tension (PO2) and its determinants have not been quantified in polycystic kidney disease (PKD). Therefore, we measured kidney tissue PO2 in the Lewis rat model of PKD (LPK) and in Lewis control rats. We also determined the relative contributions of altered renal oxygen delivery and consumption to renal tissue hypoxia in LPK rats. PO2 of the superficial cortex of 11- to 13-wk-old LPK rats, measured by Clark electrode with the rat under anesthesia, was higher within the cysts (32.8 ± 4.0 mmHg) than the superficial cortical parenchyma (18.3 ± 3.5 mmHg). PO2 in the superficial cortical parenchyma of Lewis rats was 2.5-fold greater (46.0 ± 3.1 mmHg) than in LPK rats. At each depth below the cortical surface, tissue PO2 in LPK rats was approximately half that in Lewis rats. Renal blood flow was 60% less in LPK than in Lewis rats, and arterial hemoglobin concentration was 57% less, so renal oxygen delivery was 78% less. Renal venous PO2 was 38% less in LPK than Lewis rats. Sodium reabsorption was 98% less in LPK than Lewis rats, but renal oxygen consumption did not significantly differ between the two groups. Thus, in this model of PKD, kidney tissue is severely hypoxic, at least partly because of deficient renal oxygen delivery. Nevertheless, the observation of similar renal oxygen consumption, despite markedly less sodium reabsorption, in the kidneys of LPK compared with Lewis rats, indicates the presence of inappropriately high oxygen consumption in the polycystic kidney.

  12. Determinants of renal tissue hypoxia in a rat model of polycystic kidney disease.

    Science.gov (United States)

    Ow, Connie P C; Abdelkader, Amany; Hilliard, Lucinda M; Phillips, Jacqueline K; Evans, Roger G

    2014-11-15

    Renal tissue oxygen tension (PO2) and its determinants have not been quantified in polycystic kidney disease (PKD). Therefore, we measured kidney tissue PO2 in the Lewis rat model of PKD (LPK) and in Lewis control rats. We also determined the relative contributions of altered renal oxygen delivery and consumption to renal tissue hypoxia in LPK rats. PO2 of the superficial cortex of 11- to 13-wk-old LPK rats, measured by Clark electrode with the rat under anesthesia, was higher within the cysts (32.8 ± 4.0 mmHg) than the superficial cortical parenchyma (18.3 ± 3.5 mmHg). PO2 in the superficial cortical parenchyma of Lewis rats was 2.5-fold greater (46.0 ± 3.1 mmHg) than in LPK rats. At each depth below the cortical surface, tissue PO2 in LPK rats was approximately half that in Lewis rats. Renal blood flow was 60% less in LPK than in Lewis rats, and arterial hemoglobin concentration was 57% less, so renal oxygen delivery was 78% less. Renal venous PO2 was 38% less in LPK than Lewis rats. Sodium reabsorption was 98% less in LPK than Lewis rats, but renal oxygen consumption did not significantly differ between the two groups. Thus, in this model of PKD, kidney tissue is severely hypoxic, at least partly because of deficient renal oxygen delivery. Nevertheless, the observation of similar renal oxygen consumption, despite markedly less sodium reabsorption, in the kidneys of LPK compared with Lewis rats, indicates the presence of inappropriately high oxygen consumption in the polycystic kidney. PMID:25209412

  13. Clinical outcomes of kidney transplants on patients with end-stage renal disease secondary to lupus nephritis, polycystic kidney disease and diabetic nephropathy

    Science.gov (United States)

    Nieto-Ríos, John Fredy; Builes-Rodriguez, Sheila Alexandra; Restrepo-Correa, Ricardo Cesar; Aristizabal-Alzate, Arbey; Ocampo-Kohn, Catalina; Serna-Campuzano, Angélica; Cardona-Díaz, Natalia; Giraldo-Ramirez, Nelson Darío; Zuluaga-Valencia, Gustavo Adolfo

    2016-01-01

    Background: Patients with lupus nephritis could progress to end-stage renal disease (10-22%); hence, kidney transplants should be considered as the treatment of choice for these patients. Objective: To evaluate the clinical outcomes after kidney transplants in patients with chronic kidney diseases secondary to lupus nephritis, polycystic kidney disease and diabetes nephropathy at Pablo Tobon Uribe Hospital. Methods: A descriptive and retrospective study performed at one kidney transplant center between 2005 and 2013. Results: A total of 136 patients, 27 with lupus nephritis (19.9%), 31 with polycystic kidney disease (22.8%) and 78 with diabetes nephropathy (57.4%), were included in the study. The graft survivals after one, three and five years were 96.3%, 82.5% and 82.5% for lupus nephritis; 90%, 86% and 76.5% for polycystic kidney disease and 91.7%, 80.3% and 67.9% for diabetes nephropathy, respectively, with no significant differences (p= 0.488); the rate of lupus nephritis recurrence was 0.94%/person-year. The etiology of lupus vs diabetes vs polycystic disease was not a risk factor for a decreased time of graft survival (Hazard ratio: 1.43; 95% CI: 0.52-3.93). Conclusion: Kidney transplant patients with end stage renal disease secondary to lupus nephritis has similar graft and patient survival success rates to patients with other kidney diseases. The complication rate and risk of recurrence for lupus nephritis are low. Kidney transplants should be considered as the treatment of choice for patients with end stage renal disease secondary to lupus nephritis. PMID:27226665

  14. Noncompaction of the Ventricular Myocardium and Polycystic Kidney Disease: A Case Report.

    Science.gov (United States)

    Fukino, Keiko; Ishiwata, Junpei; Shinohara, Hiroki; Oshima, Tsukasa; Kozaki, Tsunashi; Ikutomi, Masayasu; Amaki, Toshihiro; Nakamura, Fumitaka

    2016-06-01

    Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common hereditary disorders, characterized by the formation of multiple cysts in the kidneys and other organs, as well as noncystic manifestations such as cerebral aneurysm. The most common cardiovascular disorders associated with ADPKD include valvular abnormalities and aortic aneurysm. An association between ADPKD and impaired left ventricular function has occasionally been reported. We describe a 74-year-old woman with ADPKD and exertional dyspnea. Impaired left ventricular function resulting from noncompaction of the ventricular myocardium (NVM) and secondary left ventricular aneurysm were diagnosed. Cardiac sarcoidosis and ischemic heart disease were ruled out. Myocardial ischemia resulting from NVM was the presumptive cause of the ventricular aneurysm. To our knowledge, this is the first report of concurrent isolated NVM and left ventricular aneurysm in a patient with ADPKD. ADPKD and various cardiomyopathies, including NVM, are all reported to involve mutations of sarcomere genes, suggesting a possible link between the conditions. PMID:26873255

  15. [Massive increase of foetal abdominal circumference due to hereditary polycystic kidney disease].

    Science.gov (United States)

    Dukic, L; Schaffelder, R; Schaible, T; Sütterlin, M; Siemer, J

    2010-06-01

    Autosomal recessive polycystic kidney disease (ARPKD) is a rare condition with a poor prognosis. We report on a 30-year-old primagravid woman in the 34th) week of gestation who was admitted to our hospital. ARPKD of the foetus had been sonographically suspected since the 26th week of gestation. Ultrasound examination showed big polycystic kidneys on both sides. The non-consanguineous parents wanted a maximum therapy for the infant. Foetal digitalisation because of heart insufficiency and prophylactic lung maturation was started. In the further course, Doppler sonographic values worsened and a Caesarean section was performed in the 34th week of gestation at the demand of the parents and due to the expected problems in case of a vaginal delivery. The weight of the newborn was 3,780 g and the abdominal circumference was 50 cm. The newborn was intubated immediately after birth and artificial ventilation was performed. Extracorporeal membrane oxygenation was not possible due to the bad cardial condition. The boy died 16 h after delivery. The parents refused genetic examination and autopsy of the newborn. ARPKD is a severe disease that may have obstetric relevance, due to the massively increased abdominal circumference. Therefore, termination of pregnancy or preterm induction of labor should be considered in order to avoid Caesarean section. Additionally, early prenatal diagnosis with genetic analysis of PRKD1 in cases of suspected ARPKD can be helpful. PMID:20574939

  16. Determinants of renal volume in autosomal-dominant polycystic kidney disease.

    Science.gov (United States)

    Grantham, J J; Cook, L T; Torres, V E; Bost, J E; Chapman, A B; Harris, P C; Guay-Woodford, L M; Bae, K T

    2008-01-01

    The Consortium of Radiologic Imaging Studies of Polycystic Kidney Disease (CRISP) recently showed that renal enlargement in autosomal-dominant polycystic kidney disease mimicked exponential growth. We determined the effects of cyst initiation rate, total number, and growth rate on the time-dependent change of total cyst volume (TCV). Mathematical models with equations integrating cyst surface area, volume, and an invariant growth rate constant were used to compute the time-dependent change in volume of solitary and multiple cysts. Multiple expanding cysts increased TCV in an exponential-like pattern even when individual cysts formed at different rates or exhibited different but constant growth rates. TCV depended on the rate of cyst initiation and on the total number of cysts; however, the compounding effect of exponential-like growth was the most powerful determinant of long-term cyst expansion. Extrapolation of TCV data plots for individual subjects back to an age of 18 predicted TCV values within an established range. We conclude that cysts started early in life were the main contributor to eventual TCV while their growth rate primarily determined renal size; although the rate of formation and the ultimate number of cysts also contributed. The good fit between the exponential models and the extrapolated CRISP data indicates that the TCV growth rate is a defining trait for individual patients and may be used as a prognostic marker. PMID:17960141

  17. Role of calcium in polycystic kidney disease: From signaling to pathology.

    Science.gov (United States)

    Mangolini, Alessandra; de Stephanis, Lucia; Aguiari, Gianluca

    2016-01-01

    Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited monogenic kidney disease. Characterized by the development and growth of cysts that cause progressive kidney enlargement, it ultimately leads to end-stage renal disease. Approximately 85% of ADPKD cases are caused by mutations in the PKD1 gene, while mutations in the PKD2 gene account for the remaining 15% of cases. The PKD1 gene encodes for polycystin-1 (PC1), a large multi-functional membrane receptor protein able to regulate ion channel complexes, whereas polycystin-2 (PC2), encoded by the PKD2 gene, is an integral membrane protein that functions as a calcium-permeable cation channel, located mainly in the endoplasmic reticulum (ER). In the primary cilia of the epithelial cells, PC1 interacts with PC2 to form a polycystin complex that acts as a mechanosensor, regulating signaling pathways involved in the differentiation of kidney tubular epithelial cells. Despite progress in understanding the function of these proteins, the molecular mechanisms associated with the pathogenesis of ADPKD remain unclear. In this review we discuss how an imbalance between functional PC1 and PC2 proteins may disrupt calcium channel activities in the cilium, plasma membrane and ER, thereby altering intracellular calcium signaling and leading to the aberrant cell proliferation and apoptosis associated with the development and growth of renal cysts. Research in this field could lead to the discovery of new molecules able to rebalance intracellular calcium, thereby normalizing cell proliferation and reducing kidney cyst progression. PMID:26788466

  18. Albuminuria and tolvaptan in autosomal-dominant polycystic kidney disease : results of the TEMPO 3:4 Trial

    NARCIS (Netherlands)

    Gansevoort, Ron T; Meijer, Esther; Chapman, Arlene B; Czerwiec, Frank S; Devuyst, Olivier; Grantham, Jared J; Higashihara, Eiji; Krasa, Holly B; Ouyang, John; Perrone, Ronald D; Torres, Vicente E

    2015-01-01

    BACKGROUND: The TEMPO 3:4 Trial results suggested that tolvaptan had no effect compared with placebo on albuminuria in autosomal-dominant polycystic kidney disease (ADPKD) patients. However, the use of categorical 'albuminuria events' may have resulted in a loss of sensitivity to detect changes. The

  19. Downregulation of Ke 6, a Novel Gene Encoded within the Major Histocompatibility Complex, in Murine Polycystic Kidney Disease

    OpenAIRE

    Aziz, N; M.M. Maxwell; St Jacques, B; Brenner, B M

    1993-01-01

    Polycystic kidney disease (PKD) is characterized by progressive enlargement of the kidneys due to numerous expanding cysts ultimately leading to renal failure. We have identified a gene, Ke 6, located within the H-2K/tw5 region on mouse chromosome 17, which is downregulated in two distinct murine models of heritable PKD. Ke 6 is a member of the short-chain alcohol dehydrogenase family and possess remarkable amino acid sequence conservation with several bacterial proteins with oxidoreductase f...

  20. Clinical characteristics and disease predictors of a large Chinese cohort of patients with autosomal dominant polycystic kidney disease

    OpenAIRE

    Chen, Dongping; Ma, Yiyi; Wang, Xueqi; Yu, Shengqiang; Li, Lin; Dai, Bing; Mao, Zhiguo; Sun, Lijun; Xu, Chenggang; Rong, Shu; Tang, Mengjun; Zhao, Hongbo; Liu, Hongchao; Andreas L Serra; Graf, Nicole

    2014-01-01

    OBJECTIVE: Autosomal dominant polycystic kidney disease (ADPKD) is a relentlessly progressing form of chronic kidney disease for which there is no cure. The aim of this study was to characterize Chinese patients with ADPKD and to identify the factors which predict cyst growth and renal functional deterioration. METHODS: To analyze disease predicting factors we performed a prospective longitudinal observational study in a cohort of 541 Chinese patients with ADPKD and an eGFR ≥ 30 ml/min/1.7...

  1. Clinical characteristics and disease predictors of a large Chinese cohort of patients with autosomal dominant polycystic kidney disease

    OpenAIRE

    Dongping Chen; Yiyi Ma; Xueqi Wang; Shengqiang Yu; Lin Li; Bing Dai; Zhiguo Mao; Lijun Sun; Chenggang Xu; Shu Rong; Mengjun Tang; Hongbo Zhao; Hongchao Liu; Serra, Andreas L.; Nicole Graf

    2014-01-01

    OBJECTIVE: Autosomal dominant polycystic kidney disease (ADPKD) is a relentlessly progressing form of chronic kidney disease for which there is no cure. The aim of this study was to characterize Chinese patients with ADPKD and to identify the factors which predict cyst growth and renal functional deterioration. METHODS: To analyze disease predicting factors we performed a prospective longitudinal observational study in a cohort of 541 Chinese patients with ADPKD and an eGFR ≥ 30 ml/min/1.73 m...

  2. Therapeutic mTOR Inhibition in Autosomal Dominant Polycystic Kidney Disease: What Is the Appropriate Serum Level?

    OpenAIRE

    Canaud, G; Knebelmann, B.; Harris, P. C.; Vrtovsnik, F; Correas, J. M.; Pallet, N; Heyer, C. M.; Letavernier, E.; Bienaimé, F.; Thervet, E; Martinez, F; Terzi, F.; Legendre, C.

    2010-01-01

    Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited renal disease, and sirolimus, a mammalian target of rapamycin (mTOR) inhibitor, has been shown to significantly retard cyst expansion in animal models. The optimal therapeutic dose of sirolimus is not yet defined. Here, we report the history of a previously unknown ADPKD deceased donor whose kidneys were engrafted in two different recipients. One of the two received an immunosuppressive regimen based on sirolimu...

  3. Chronic Kidney Pain in Autosomal Dominant Polycystic Kidney Disease : A Case Report of Successful Treatment by Catheter-Based Renal Denervation

    NARCIS (Netherlands)

    Casteleijn, Niek F.; de Jager, Rosa L.; Neeleman, M. Peer; Blankestijn, Peter J.; Gansevoort, Ron T.

    2014-01-01

    Chronic pain is a common concern in patients with autosomal dominant polycystic kidney disease (ADPKD). We report what to our knowledge is the first catheter-based renal denervation procedure in a patient with ADPKD resulting in successful management of chronic pain. The patient was a 43-year-old wo

  4. Next-generation sequencing for molecular diagnosis of autosomal recessive polycystic kidney disease.

    Science.gov (United States)

    Edrees, Burhan M; Athar, Mohammad; Al-Allaf, Faisal A; Taher, Mohiuddin M; Khan, Wajahatullah; Bouazzaoui, Abdellatif; Al-Harbi, Naffaa; Safar, Ramzia; Al-Edressi, Howaida; Alansary, Khawala; Anazi, Abulkareem; Altayeb, Naji; Ahmed, Muawia A; Abduljaleel, Zainularifeen

    2016-10-10

    Autosomal recessive polycystic kidney disease (ARPKD) a rare genetic disorder, described by formation of cysts in the kidney. A targeted customized sequencing of genes implicated in ARPKD phenotype was performed to identify candidate variants using the Ion torrent PGM next-generation sequencing. The results identified likely pathogenic disease causing variants during the validation process. Four potential pathogenic variants [c.4870C>T, p.(Arg1624Trp)], [c.5725C>T, p.(Arg1909Trp)], c.1736C>T, p.(Thr579Met)] and [(c.10628T>G), p.(Leu3543Trp)] were observed in PKHD1 gene among 12 out of 18 samples. The rest of the patient samples also showed few variants in ADPKD (Autosomal Dominant Polycystic Kidney Disease) disease causing genes PKD1 and PKD2 i.e. [c.12433G>A, p.(Val4145Ile)] and [c.1445T>G, p.(Phe482Cys)], respectively. All causative variants were validated by capillary sequencing, confirming the presence of a novel homozygous variants [c.10628T>G, p.(Leu3543Trp)] found in exon 61 of a male proband. All potentially deleterious variants identified in PKHD1, PKD1, and PKD2 gene, also exhibited pathologically or clinically significance based on the computational predictions involved in predicting the impact of non-synonymous SNPs (nsSNPs) on protein function such as Sorting Intolerant From Tolerant (SIFT) and Polymorphism Phenotyping (PolyPhen2). SIFT classified 50% of our nsSNPs as "deleterious", while PolyPhen2 identified 45% of our nsSNPs as "Probably damaged" and the results from both programs were largely complementary. Taken together, these results suggest that the NGS strategies provide a fast, accurate and cost-effective molecular diagnostic tool for identifying mutations in targeted genes sequence analysis. PMID:27401137

  5. Apelin and copeptin: two opposite biomarkers associated with kidney function decline and cyst growth in autosomal dominant polycystic kidney disease.

    Science.gov (United States)

    Lacquaniti, Antonio; Chirico, Valeria; Lupica, Rosaria; Buemi, Antoine; Loddo, Saverio; Caccamo, Chiara; Salis, Paola; Bertani, Tullio; Buemi, Michele

    2013-11-01

    Vasopressin (AVP) plays a detrimental role in autosomal dominant polycystic kidney disease (ADPKD). Copeptin represents a measurable substitute for circulating AVP whereas apelin counteracts AVP signaling. The aim of this study was to investigate the predictive value of apelin and copeptin for the progression of ADPKD disease. 52 ADPKD patients were enrolled and followed until the end of the observation period or the primary study endpoint was reached, defined by the combined outcome of decrease of glomerular filtration rate associated with a total renal volume increase. Receiver operating characteristics (ROC) analysis was employed for identifying the progression of renal disease and Kaplan-Meier curves assessed the renal survival. Adjusted risk estimates for progression endpoint and incident renal replacement therapy (RRT) were calculated using Cox proportional hazard regression analysis. ADPKD patients were characterized by lower apelin levels and higher copeptin levels when compared with healthy subjects. These biomarkers were strictly correlated with osmolality and markers of renal function. At ROC analysis, apelin and copeptin showed a very good diagnostic profile in identifying ADPKD progression. After the follow up of 24 months, 33 patients reached the endpoint. Cox proportional hazard regression analysis showed that apelin predicted renal disease progression and incident RRT independently of other potential confounders. Apelin is associated with kidney function decline in ADPKD, suggesting that it may be a new marker to predict kidney outcome. PMID:23973863

  6. Mutations in GANAB, Encoding the Glucosidase IIα Subunit, Cause Autosomal-Dominant Polycystic Kidney and Liver Disease.

    Science.gov (United States)

    Porath, Binu; Gainullin, Vladimir G; Cornec-Le Gall, Emilie; Dillinger, Elizabeth K; Heyer, Christina M; Hopp, Katharina; Edwards, Marie E; Madsen, Charles D; Mauritz, Sarah R; Banks, Carly J; Baheti, Saurabh; Reddy, Bharathi; Herrero, José Ignacio; Bañales, Jesús M; Hogan, Marie C; Tasic, Velibor; Watnick, Terry J; Chapman, Arlene B; Vigneau, Cécile; Lavainne, Frédéric; Audrézet, Marie-Pierre; Ferec, Claude; Le Meur, Yannick; Torres, Vicente E; Harris, Peter C

    2016-06-01

    Autosomal-dominant polycystic kidney disease (ADPKD) is a common, progressive, adult-onset disease that is an important cause of end-stage renal disease (ESRD), which requires transplantation or dialysis. Mutations in PKD1 or PKD2 (∼85% and ∼15% of resolved cases, respectively) are the known causes of ADPKD. Extrarenal manifestations include an increased level of intracranial aneurysms and polycystic liver disease (PLD), which can be severe and associated with significant morbidity. Autosomal-dominant PLD (ADPLD) with no or very few renal cysts is a separate disorder caused by PRKCSH, SEC63, or LRP5 mutations. After screening, 7%-10% of ADPKD-affected and ∼50% of ADPLD-affected families were genetically unresolved (GUR), suggesting further genetic heterogeneity of both disorders. Whole-exome sequencing of six GUR ADPKD-affected families identified one with a missense mutation in GANAB, encoding glucosidase II subunit α (GIIα). Because PRKCSH encodes GIIβ, GANAB is a strong ADPKD and ADPLD candidate gene. Sanger screening of 321 additional GUR families identified eight further likely mutations (six truncating), and a total of 20 affected individuals were identified in seven ADPKD- and two ADPLD-affected families. The phenotype was mild PKD and variable, including severe, PLD. Analysis of GANAB-null cells showed an absolute requirement of GIIα for maturation and surface and ciliary localization of the ADPKD proteins (PC1 and PC2), and reduced mature PC1 was seen in GANAB(+/-) cells. PC1 surface localization in GANAB(-/-) cells was rescued by wild-type, but not mutant, GIIα. Overall, we show that GANAB mutations cause ADPKD and ADPLD and that the cystogenesis is most likely driven by defects in PC1 maturation. PMID:27259053

  7. Potential Deleterious Effects of Vasopressin in Chronic Kidney Disease and Particularly Autosomal Dominant Polycystic Kidney Disease

    NARCIS (Netherlands)

    Meijer, E.; Boertien, W. E.; Zietse, R.; Gansevoort, R. T.

    2011-01-01

    The antidiuretic hormone vasopressin is crucial for regulating free water clearance in normal physiology. However, it has also been hypothesized that vasopressin has deleterious effects on the kidney. Vasopressin is elevated in animals and patients with chronic kidney disease. Suppression of vasopre

  8. Recurrent acute pancreatitis and cholangitis in a patient with autosomal dominant polycystic kidney disease

    Directory of Open Access Journals (Sweden)

    Kambiz Yazdanpanah

    2013-01-01

    Full Text Available Autosomal dominant polycystic kidney disease (ADPKD is an inherited disorder associated with multiple cyst formation in the different organs. Development of pancreatic cyst in ADPKD is often asymptomatic and is associated with no complication. A 38-year-old man with ADPKD was presented with six episodes of acute pancreatitis and two episodes of cholangitis in a period of 12 months. Various imaging studies revealed multiple renal, hepatic and pancreatic cysts, mild ectasia of pancreatic duct, dilation of biliary system and absence of biliary stone. He was managed with conservative treatment for each attack. ADPKD should be considered as a potential risk factor for recurrent acute and/or chronic pancreatitis and cholangitis.

  9. AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE (ADPKD IN A LARGE IRANIAN FAMILY

    Directory of Open Access Journals (Sweden)

    D.D. Farhud

    1999-08-01

    Full Text Available Study of a family with autosomal dominant polycystic kidney diseases (ADPKD in five generations, including 96 healthy and 47 affected individuals, has been carried out in Tehran. Investigation on individuals, including final diagnoses by clinical findings, sonography, radiography and laboratory results, have Lead to the completion of genealogical chart of the family. The affected individuals have reached a stage of the disease with confirmed occurrence of renal damages. Uncertain diagnoses, unconfirmed statements of the family members about probable presence of the disease in some other members, and also the death of some members by other reasons were not possible to be registered in the chart. Up to now the chart has been the largest and the most complete in Iran, compared with the ones reported in the available literature.

  10. A New PKD1 Mutation Discovered in a Chinese Family with Autosomal Polycystic Kidney Disease

    Directory of Open Access Journals (Sweden)

    Zhendi Wang

    2014-04-01

    Full Text Available Background/Aims: Autosomal-dominant polycystic kidney disease (ADPKD, a heterogeneous genetic disorder characterized by massive kidney enlargement and progressive chronic kidney disease, is due to abnormal proliferation of renal tubular epithelium. ADPKD is known to be caused by mutations in PKD1 and PKD2 genes. Methods: In the present study, the mutation analysis of PKD genes was performed in a new Chinese family with ADPKD using Long-Range (LR PCR sequencing and targeted next-generation sequencing (targeted DNA-HiSeq. Results: A unique 28 bp deletion (c.12605_12632del28 in exon 46 of the PKD1 gene was identified in two affected family members by LR PCR method, but not in any unaffected relatives or unrelated controls. Higher accuracy and less missing detection presented in LR PCR method compared with targeted DNA-HiSeq. This mutation c.12605_12632del28 (p.Arg4202ProextX146 resulted in a delayed termination of amino acid code, and was highly speculated pathogenic in this ADPKD family. Moreover, this newly identified frame-shift change was compared to the PKD gene database, but no similar mutation was yet reported. Conclusion: A novel frame-shift mutation, c. 12605_12632del28, in the PKD1 gene was found in a Chinese ADPKD family. All evidence available suggested that it might be the mutation responsible for the disease in that family.

  11. Autosomal dominant polycystic kidney disease: new treatment options and how to test their efficacy.

    Science.gov (United States)

    Wüthrich, Rudolf P; Serra, Andreas L; Kistler, Andreas D

    2009-01-01

    Autosomal dominant polycystic kidney disease (ADPKD) represents a slowly progressing cystic kidney disorder which evolves into end-stage renal disease in the majority of patients. Currently, there are no established treatments to retard the progression of the disease, but several promising therapeutic options are being tested in ongoing clinical trials. An inherent dilemma for the investigation of therapies in ADPKD is the dissociation of the early onset and constant rate of cyst growth from the delayed but accelerated loss of renal function. In order to prevent the latter, one needs to act on the former, i.e. current belief by experts in the field is that (1) retardation of cyst growth will ultimately improve the loss of glomerular filtration rate, and (2) cyst volume is an ideal surrogate parameter for outcome in early ADPKD. The present review will discuss the utility and the techniques for kidney and cyst volume measurements to assess disease progression in ADPKD, and summarizes ongoing clinical trials testing novel therapeutic options. PMID:19887826

  12. Inhibition of Aerobic Glycolysis Attenuates Disease Progression in Polycystic Kidney Disease.

    Directory of Open Access Journals (Sweden)

    Meliana Riwanto

    Full Text Available Dysregulated signaling cascades alter energy metabolism and promote cell proliferation and cyst expansion in polycystic kidney disease (PKD. Here we tested whether metabolic reprogramming towards aerobic glycolysis ("Warburg effect" plays a pathogenic role in male heterozygous Han:SPRD rats (Cy/+, a chronic progressive model of PKD. Using microarray analysis and qPCR, we found an upregulation of genes involved in glycolysis (Hk1, Hk2, Ldha and a downregulation of genes involved in gluconeogenesis (G6pc, Lbp1 in cystic kidneys of Cy/+ rats compared with wild-type (+/+ rats. We then tested the effect of inhibiting glycolysis with 2-deoxyglucose (2DG on renal functional loss and cyst progression in 5-week-old male Cy/+ rats. Treatment with 2DG (500 mg/kg/day for 5 weeks resulted in significantly lower kidney weights (-27% and 2-kidney/total-body-weight ratios (-20% and decreased renal cyst index (-48% compared with vehicle treatment. Cy/+ rats treated with 2DG also showed higher clearances of creatinine (1.98±0.67 vs 1.41±0.37 ml/min, BUN (0.69±0.26 vs 0.40±0.10 ml/min and uric acid (0.38±0.20 vs 0.21±0.10 ml/min, and reduced albuminuria. Immunoblotting analysis of kidney tissues harvested from 2DG-treated Cy/+ rats showed increased phosphorylation of AMPK-α, a negative regulator of mTOR, and restoration of ERK signaling. Assessment of Ki-67 staining indicated that 2DG limits cyst progression through inhibition of epithelial cell proliferation. Taken together, our results show that targeting the glycolytic pathway may represent a promising therapeutic strategy to control cyst growth in PKD.

  13. Adult stem-like cells in kidney

    Institute of Scientific and Technical Information of China (English)

    Keiichi Hishikawa; Osamu Takase; Masahiro Yoshikawa; Taro Tsujimura; Masaomi Nangaku; Tsuyoshi Takato

    2015-01-01

    Human pluripotent cells are promising for treatmentfor kidney diseases, but the protocols for derivationof kidney cell types are still controversial. Kidneytissue regeneration is well confirmed in several lowervertebrates such as fish, and the repair of nephronsafter tubular damages is commonly observed after renalinjury. Even in adult mammal kidney, renal progenitorcell or system is reportedly presents suggesting thatadult stem-like cells in kidney can be practical clinicaltargets for kidney diseases. However, it is still unclearif kidney stem cells or stem-like cells exist or not. Ingeneral, stemness is defined by several factors suchas self-renewal capacity, multi-lineage potency andcharacteristic gene expression profiles. The definiteuse of stemness may be obstacle to understand kidneyregeneration, and here we describe the recent broadfindings of kidney regeneration and the cells thatcontribute regeneration.

  14. Increasing extracellular matrix collagen level and MMP activity induces cyst development in polycystic kidney disease

    Directory of Open Access Journals (Sweden)

    Liu Bin

    2012-09-01

    Full Text Available Abstract Background Polycystic Kidney Disease (PKD kidneys exhibit increased extracellular matrix (ECM collagen expression and metalloproteinases (MMPs activity. We investigated the role of these increases on cystic disease progression in PKD kidneys. Methods We examined the role of type I collagen (collagen I and membrane bound type 1 MMP (MT1-MMP on cyst development using both in vitro 3 dimensional (3D collagen gel culture and in vivo PCK rat model of PKD. Results We found that collagen concentration is critical in controlling the morphogenesis of MDCK cells cultured in 3D gels. MDCK cells did not form 3D structures at collagen I concentrations lower than 1 mg/ml but began forming tubules when the concentration reaches 1 mg/ml. Significantly, these cells began to form cyst when collagen I concentration reached to 1.2 mg/ml, and the ratios of cyst to tubule structures increased as the collagen I concentration increased. These cells exclusively formed cyst structures at a collagen I concentration of 1.8 mg/ml or higher. Overexpression of MT1-MMP in MDCK cells significantly induced cyst growth in 3D collagen gel culture. Conversely, inhibition of MMPs activity with doxycycline, a FDA approved pan-MMPs inhibitor, dramatically slowed cyst growth. More importantly, the treatment of PCK rats with doxycycline significantly decreased renal tubule cell proliferation and markedly inhibited the cystic disease progression. Conclusions Our data suggest that increased collagen expression and MMP activity in PKD kidneys may induce cyst formation and expansion. Our findings also suggest that MMPs may serve as a therapeutic target for the treatment of human PKD.

  15. [Pathophysiology, epidemiology, clinical presentation, diagnosis and treatment options for autosomal dominant polycystic kidney disease].

    Science.gov (United States)

    Noël, Natacha; Rieu, Philippe

    2015-07-01

    Autosomal dominant polycystic kidney disease (ADPKD) is the leading genetic cause of end-stage renal disease (ESRD) worldwide. Its prevalence is evaluated according to studies and population between 1/1000 and 1/4000 live births and it accounts for 6 to 8% of incident ESRD patients in developed countries. ADPKD is characterized by numerous cysts in both kidneys and various extrarenal manifestations that are detailed in this review. Clinico-radiological and genetic diagnosis are also discussed. Mutations in the PKD1 and PKD2 codifying for polycystin-1 (PC-1) and polycystin-2 (PC-2) are responsible for the 85 and 15% of ADPKD cases, respectively. In primary cilia of normal kidney epithelial cells, PC-1 and PC-2 interact forming a complex involved in flow- and cilia-dependant signalling pathways where intracellular calcium and cAMP play a central role. Alteration of these multiple signal transduction pathways leads to cystogenesis accompanied by dysregulated planar cell polarity, excessive cell proliferation and fluid secretion, and pathogenic interactions of epithelial cells with an abnormal extracellular matrix. The mass effect of expanding cyst is responsible for the decline in glomerular filtration rate that occurs late in the course of the disease. For many decades, the treatment for ADPKD aims to lessen the condition's symptoms, limit kidney damage, and prevent complications. Recently, the development of promising specific treatment raises the hope to slow the growth of cysts and delay the disease. Treatment strategies targeting cAMP signalling such as vasopressin receptor antagonists or somatostatin analogs have been tested successfully in clinical trials with relative safety. Newer treatments supported by preclinical trials will become available in the next future. Recognizing early markers of renal progression (clinical, imaging, and genetic markers) to identify high-risk patients and multidrug approaches with synergistic effects may provide new opportunities

  16. Mouse models of polycystic kidney disease induced by defects of ciliary proteins

    Directory of Open Access Journals (Sweden)

    Je Yeong Ko

    2013-02-01

    Full Text Available Polycystic kidney disease (PKD is a common hereditarydisorder which is characterized by fluid-filled cysts in thekidney. Mutation in either PKD1, encoding polycystin-1 (PC1,or PKD2, encoding polycystin-2 (PC2, are causative genes ofPKD. Recent studies indicate that renal cilia, known asmechanosensors, detecting flow stimulation through renaltubules, have a critical function in maintaining homeostasis ofrenal epithelial cells. Because most proteins related to PKD arelocalized to renal cilia or have a function in ciliogenesis.PC1/PC2 heterodimer is localized to the cilia, playing a role incalcium channels. Also, disruptions of ciliary proteins, exceptfor PC1 and PC2, could be involved in the induction ofpolycystic kidney disease. Based on these findings, variousPKD mice models were produced to understand the roles ofprimary cilia defects in renal cyst formation. In this review, wewill describe the general role of cilia in renal epithelial cells,and the relationship between ciliary defects and PKD. We alsodiscuss mouse models of PKD related to ciliary defects basedon recent studies. [BMB Reports 2013; 46(2: 73-79

  17. Potent, metabolically stable benzopyrimido-pyrrolo-oxazine-dione (BPO) CFTR inhibitors for polycystic kidney disease.

    Science.gov (United States)

    Snyder, David S; Tradtrantip, Lukmanee; Yao, Chenjuan; Kurth, Mark J; Verkman, A S

    2011-08-11

    We previously reported the discovery of pyrimido-pyrrolo-quinoxalinedione (PPQ) inhibitors of the cystic fibrosis transmembrane conductance regulator (CFTR) chloride channel and showed their efficacy in an organ culture model of polycystic kidney disease (PKD) (J. Med. Chem. 2009, 52, 6447-6455). Here, we report related benzopyrimido-pyrrolo-oxazinedione (BPO) CFTR inhibitors. To establish structure-activity relationships and select lead compound(s) with improved potency, metabolic stability, and aqueous solubility compared to the most potent prior compound 8 (PPQ-102, IC(50) ∼ 90 nM), we synthesized 16 PPQ analogues and 11 BPO analogues. The analogues were efficiently synthesized in 5-6 steps and 11-61% overall yield. Modification of 8 by bromine substitution at the 5-position of the furan ring, replacement of the secondary amine with an ether bridge, and carboxylation, gave 6-(5-bromofuran-2-yl)-7,9-dimethyl-8,10-dioxo-11-phenyl-7,8,9,10-tetrahydro-6H-benzo[b]pyrimido [4',5':3,4]pyrrolo [1,2-d][1,4]oxazine-2-carboxylic acid 42 (BPO-27), which fully inhibited CFTR with IC(50) ∼ 8 nM and, compared to 8, had >10-fold greater metabolic stability and much greater polarity/aqueous solubility. In an embryonic kidney culture model of PKD, 42 prevented cyst growth with IC(50) ∼ 100 nM. Benzopyrimido-pyrrolo-oxazinediones such as 42 are potential development candidates for antisecretory therapy of PKD.

  18. Cyst growth, polycystins, and primary cilia in autosomal dominant polycystic kidney disease.

    Science.gov (United States)

    Lee, Seung Hun; Somlo, Stefan

    2014-06-01

    The primary cilium of renal epithelia acts as a transducer of extracellular stimuli. Polycystin (PC)1 is the protein encoded by the PKD1 gene that is responsible for the most common and severe form of autosomal dominant polycystic kidney disease (ADPKD). PC1 forms a complex with PC2 via their respective carboxy-terminal tails. Both proteins are expressed in the primary cilia. Mutations in either gene affect the normal architecture of renal tubules, giving rise to ADPKD. PC1 has been proposed as a receptor that modulates calcium signals via the PC2 channel protein. The effect of PC1 dosage has been described as the rate-limiting modulator of cystic disease. Reduced levels of PC1 or disruption of the balance in PC1/PC2 level can lead to the clinical features of ADPKD, without complete inactivation. Recent data show that ADPKD resulting from inactivation of polycystins can be markedly slowed if structurally intact cilia are also disrupted at the same time. Despite the fact that no single model or mechanism from these has been able to describe exclusively the pathogenesis of cystic kidney disease, these findings suggest the existence of a novel cilia-dependent, cyst-promoting pathway that is normally repressed by polycystin function. The results enable us to rethink our current understanding of genetics and cilia signaling pathways of ADPKD. PMID:26877954

  19. [Hypertension in patients with polycystic kidney disease -  incidence, pathogenesis, prognosis, therapy].

    Science.gov (United States)

    Tesař, V; Reiterová, J

    2013-06-01

    Hypertension is common in patients with autosomal dominant polycystic kidney disease (ADPKD) very early usually already in adolescence and its occurrence precedes the decrease of glomerular filtration rate. Expansion of renal cysts causing local renal ischemia and activation of the reninangiotensin system is believed to play a decisive role in its pathogenesis. Hypertension in ADPKD leads to early development of left ventricle hypertrophy and definitely contributes to the progression of chronic renal insufficiency. In ADPKD optimal control of blood pressure dramatically decreases the risk of left ventricle hypertrophy and contributes to its regression, but the beneficial effect of optimal compared to standard blood pressure control on the progression of chronic renal insufficiency has yet to be unequivocally demonstrated. Angiotensin converting enzyme inhibitors and/ or angiotensin receptor blockers are the drugs of choice in the treatment of hypertension in ADPKD. New drugs blocking the growth of renal cysts (e. g. inhibitors of V2 vasopressin antagonists) may have in ADPKD positive impact not only of the growth of the cysts and kidney volume, but also on the rate of loss of glomerular filtration rate. The influence of these drugs on the control of blood pressure, if any, remains uncertain. PMID:23808746

  20. Klippel Trenaunay Weber syndrome with unilateral polycystic kidney disease: a rare presentation

    Directory of Open Access Journals (Sweden)

    Shiv Charan

    2016-05-01

    Full Text Available Klippel Trenaunay Weber syndrome (KTWS is a rare disease characterized by hemihypertrophy, variceal enlargement of the veins, and arteriovenous (AV malformations. Renal involvement in KTWS is not known except in rare case reports. Herein, we present a case of KTWS with unilateral polycystic kidney. A 52-year-old male was admitted due to pain left lumbar region for the last three months. The physical findings were increased diameter and increased length of the left leg compared with the right one, diffuse variceal enlargements on left leg, portwine stain on left side on neck, thorax, abdomen, left upper limb and left lower limb and a few hemangiomatous lesions on the left leg. Radiographic findings were cystic lesions in the left kidney, varicose veins in left leg, and hypertrophy of the soft tissues of the proximal left leg. Color Doppler of left lower limb showed incompetence of the saphenofemoral junction. He was diagnosed to have KTWS with these findings. Renal function tests of the patient were in the normal range. Patient's only complain was left lumbar region pain, mild in intensity. Patient was managed symptomatically. [Int J Res Med Sci 2016; 4(5.000: 1760-1762

  1. Bardet–Biedl syndrome proteins 1 and 3 regulate the ciliary trafficking of polycystic kidney disease 1 protein

    OpenAIRE

    Su, Xuefeng; Driscoll, Kaitlin; Yao, Gang; Raed, Anas; Wu, Maoqing; Beales, Philip L.; Zhou, Jing

    2014-01-01

    Bardet–Biedl syndrome (BBS) and autosomal dominant polycystic kidney disease (ADPKD) are two genetically distinct ciliopathies but share common phenotypes such as renal cysts. Seven BBS proteins form a complex called the BBSome which is localized at the basal body or ciliary axoneme and regulates the ciliary entry or flagellar exit of several signaling molecules. Here, we demonstrate that, unlike the seven-span somatostatin receptor 3 or the leptin receptor that interacts with all subunits of...

  2. Biliary Infection May Exacerbate Biliary Cystogenesis Through the Induction of VEGF in Cholangiocytes of the Polycystic Kidney (PCK) Rat

    OpenAIRE

    Ren, Xiang Shan; Sato, Yasunori; Harada, Kenichi; Sasaki, Motoko; Yoneda, Norihide; Lin, Zhen Hua; Nakanuma, Yasuni

    2011-01-01

    Cholangitis arising from biliary infection dominates the prognosis in Caroli's disease. To clarify the influences of bacterial infection on the biliary cystogenesis, in vivo and in vitro studies were performed using the polycystic kidney (PCK) rat as an animal model of Caroli's disease. Cholangitis became a frequent histological finding in aged PCK rats, and neovascularization around the bile ducts also increased in aged PCK rats. Immunohistochemistry revealed that expression of vascular endo...

  3. JAK2-STAT3 pathway regulates the expression of complement factor B in autosomal dominant polycystic kidney disease

    Institute of Scientific and Technical Information of China (English)

    周晨晨

    2014-01-01

    Objective To investigate the role of JAK2-STAT3pathway in the expression of complement factor B(CFB)in autosomal dominant polycystic kidney disease(ADP KD).Methods Renal tissue samples of patients with ADPKD after nephrectomy were collected.Normal rena tissue samples as control were taken from patients afte radical nephrectomy.Renal tissue samples of Han:SPRD Cy/+rats(ADPKD model)and wild-type Han:

  4. High Resolution Ultrasonography for Assessment of Renal Cysts in the PCK Rat Model of Autosomal Recessive Polycystic Kidney Disease

    Directory of Open Access Journals (Sweden)

    Sarika Kapoor

    2016-03-01

    Full Text Available Background/Aims: The PCK rat model of polycystic kidney disease is characterized by the progressive development of renal medullary cysts. Here, we evaluated the suitability of high resolution ultrasonography (HRU to assess the kidney and cyst volume in PCK rats, testing three different ultrasound image analysis methods, and correlating them with kidneys weights and histological examinations. Methods: After inducing anesthesia, PCK rats (n=18 were subjected to HRU to visualize the kidneys, to perform numeric and volumetric measurements of the kidney and any cysts observed, and to generate 3-dimensional images of the cysts within the kidney parenchyma. Results: HRU provided superior information in comparison to microscopic analysis of stained kidney sections. HRU-based kidney volumes correlated strongly with kidney weights (R2=0.809; PConclusion: HRU represents a useful diagnostic tool for kidney and cyst volume measurements in PCK rats. Sequential HRU examinations may be useful to study the effect of drugs on cyst growth without the need to euthanize experimental animals.

  5. Clinical Characteristics and Disease Predictors of a Large Chinese Cohort of Patients with Autosomal Dominant Polycystic Kidney Disease

    OpenAIRE

    Chen, Dongping; Ma, Yiyi; Wang, Xueqi; Yu, Shengqiang; Li, Lin; Dai, Bing; Mao, Zhiguo; Sun, Lijun; Xu, Chenggang; Rong, Shu; Tang, Mengjun; Zhao, Hongbo; Liu, Hongchao; Andreas L Serra; Graf, Nicole

    2014-01-01

    Objective Autosomal dominant polycystic kidney disease (ADPKD) is a relentlessly progressing form of chronic kidney disease for which there is no cure. The aim of this study was to characterize Chinese patients with ADPKD and to identify the factors which predict cyst growth and renal functional deterioration. Methods To analyze disease predicting factors we performed a prospective longitudinal observational study in a cohort of 541 Chinese patients with ADPKD and an eGFR ≥30 ml/min/1.73 m2. ...

  6. Effect of Sodium-Glucose Cotransport Inhibition on Polycystic Kidney Disease Progression in PCK Rats.

    Directory of Open Access Journals (Sweden)

    Sarika Kapoor

    Full Text Available The sodium-glucose-cotransporter-2 (SGLT2 inhibitor dapagliflozin (DAPA induces glucosuria and osmotic diuresis via inhibition of renal glucose reabsorption. Since increased diuresis retards the progression of polycystic kidney disease (PKD, we investigated the effect of DAPA in the PCK rat model of PKD. DAPA (10 mg/kg/d or vehicle was administered by gavage to 6 week old male PCK rats (n=9 per group. Renal function, albuminuria, kidney weight and cyst volume were assessed after 6 weeks of treatment. Treatment with DAPA markedly increased glucose excretion (23.6 ± 4.3 vs 0.3 ± 0.1 mmol/d and urine output (57.3 ± 6.8 vs 19.3 ± 0.8 ml/d. DAPA-treated PCK rats had higher clearances for creatinine (3.1 ± 0.1 vs 2.6 ± 0.2 ml/min and BUN (1.7 ± 0.1 vs 1.2 ± 0.1 ml/min after 3 weeks, and developed a 4-fold increase in albuminuria. Ultrasound imaging and histological analysis revealed a higher cyst volume and a 23% higher total kidney weight after 6 weeks of DAPA treatment. At week 6 the renal cAMP content was similar between DAPA and vehicle, and staining for Ki67 did not reveal an increase in cell proliferation. In conclusion, the inhibition of glucose reabsorption with the SGLT2-specific inhibitor DAPA caused osmotic diuresis, hyperfiltration, albuminuria and an increase in cyst volume in PCK rats. The mechanisms which link glucosuria to hyperfiltration, albuminuria and enhanced cyst volume in PCK rats remain to be elucidated.

  7. Effect of Sodium-Glucose Cotransport Inhibition on Polycystic Kidney Disease Progression in PCK Rats.

    Science.gov (United States)

    Kapoor, Sarika; Rodriguez, Daniel; Riwanto, Meliana; Edenhofer, Ilka; Segerer, Stephan; Mitchell, Katharyn; Wüthrich, Rudolf P

    2015-01-01

    The sodium-glucose-cotransporter-2 (SGLT2) inhibitor dapagliflozin (DAPA) induces glucosuria and osmotic diuresis via inhibition of renal glucose reabsorption. Since increased diuresis retards the progression of polycystic kidney disease (PKD), we investigated the effect of DAPA in the PCK rat model of PKD. DAPA (10 mg/kg/d) or vehicle was administered by gavage to 6 week old male PCK rats (n=9 per group). Renal function, albuminuria, kidney weight and cyst volume were assessed after 6 weeks of treatment. Treatment with DAPA markedly increased glucose excretion (23.6 ± 4.3 vs 0.3 ± 0.1 mmol/d) and urine output (57.3 ± 6.8 vs 19.3 ± 0.8 ml/d). DAPA-treated PCK rats had higher clearances for creatinine (3.1 ± 0.1 vs 2.6 ± 0.2 ml/min) and BUN (1.7 ± 0.1 vs 1.2 ± 0.1 ml/min) after 3 weeks, and developed a 4-fold increase in albuminuria. Ultrasound imaging and histological analysis revealed a higher cyst volume and a 23% higher total kidney weight after 6 weeks of DAPA treatment. At week 6 the renal cAMP content was similar between DAPA and vehicle, and staining for Ki67 did not reveal an increase in cell proliferation. In conclusion, the inhibition of glucose reabsorption with the SGLT2-specific inhibitor DAPA caused osmotic diuresis, hyperfiltration, albuminuria and an increase in cyst volume in PCK rats. The mechanisms which link glucosuria to hyperfiltration, albuminuria and enhanced cyst volume in PCK rats remain to be elucidated.

  8. Prevalence of the polycystic kidney disease and renal and urinary bladder ultrasonographic abnormalities in Persian and Exotic Shorthair cats in Italy.

    Science.gov (United States)

    Bonazzi, Mattia; Volta, Antonella; Gnudi, Giacomo; Bottarelli, Ezio; Gazzola, Margherita; Bertoni, Giorgio

    2007-10-01

    The ultrasonographic findings of kidneys, liver and urinary bladder of 288 Persian and 44 Exotic Shorthair clinically normal cats that underwent screening for polycystic kidney disease (PKD) between July 2003 and December 2005 were reviewed. Cats were divided into two groups, one including cats aged /=9 months (group 2). Cats were classified as PKD-positive when at least one renal cyst was found. One hundred and thirty-six cats (41.0%) had more than one cyst in at least one kidney. The prevalence of PKD was similar in both groups. Eight PKD-positive cats had cystic livers (5.9%). Other renal abnormalities included a pelvic calculus and a medullary rim sign (MRS). The difference in prevalence of an MRS in group 2 compared to group 1 and the difference between PKD-positive and -negative cats in group 2 were not significant. There was no difference in mean kidney length between PKD-positive and -negative cats in group 2. Urinary bladder anomalies were principally represented by urinary sediment, with prevalence significantly higher in group 2. No difference was detected in group 2 between PKD-positive and -negative cats. In conclusion feline PKD is common in Italy. The ultrasonographic findings of MRS and urinary bladder sediment did not correlate with feline PKD. Urinary bladder sediment is common in Persians and Exotic Shorthairs and more likely in adults. PMID:17498994

  9. Genetic analysis of Iranian autosomal dominant polycystic kidney disease: new insight to haplotype analysis.

    Science.gov (United States)

    Entezam, M; Khatami, M R; Saddadi, F; Ayati, M; Roozbeh, J; Saghafi, H; Keramatipour, M

    2016-01-01

    Autosomal Dominant Polycystic Kidney Disease (ADPKD) caused by mutations in two PKD1 and PKD2 genes. Due to the complexity of the PKD1 gene, its direct mutation screening is an expensive and time-consuming procedure. Pedigree-based haplotype analysis is a useful indirect approach to identify the responsible gene in families with multiple affected individuals, before direct mutation analysis. Here, we applied this approach to investigate 15 appropriate unrelated ADPKD families, selected from 25 families, who referred for genetic counseling. Four polymorphic microsatellite markers were selected around each PKD1 and PKD2 loci. In addition, by investigating the genomic regions, two novel flanking tetranucleotide STR markers were identified. Haplotype analysis and calculating Lod score confirmed linkage to PKD1 in 9 families (60%) and to PKD2 in 2 families (13%). Linkage to both loci was excluded in one family (6.6%). In 2 families (13%) the Lod scores were inconclusive. Causative mutation was identified successfully by direct analysis in two families with confirmed linkage, one to PKD1 and another to PKD2 locus. The study showed that determining the causative locus prior to direct mutation analysis is an efficient strategy to reduce the resources required for genetic analysis of ADPKD families. This is more prominent in PKD2-linked families. Selection of suitable markers, and appropriate PCR multiplexing strategy, using fluorescent labeled primers and 3 primer system, will also add value to this approach. PMID:26950445

  10. Voicing the lifeworld: Parental accounts of responsibility in genetic consultations for polycystic kidney disease.

    Science.gov (United States)

    Clarke, Angus; Sarangi, Srikant; Verrier-Jones, Kate

    2011-06-01

    When parents, who are carriers of or are affected by a genetic disorder, make decisions about the health risks faced by their children, there may be multiple factors to consider. These may include the medical benefits, the parents' own experiences of learning about their genetic status, and the future autonomy of the child. Health professionals face the challenge of explaining the possible burdens as well as benefits of testing children, while promoting open communication within families about the risk of an inherited condition. While genetic consultations do not in themselves constitute decision making, parents nevertheless account for their actions and decisions in an attempt to display parental responsibility. In this paper we explore the accounting practices of parents in genetic consultations, focusing on how they articulate their responsibility with regard to testing their at-risk children for autosomal dominant polycystic kidney disease (PKD) and the communication issues surrounding the testing process and the disclosing of test results. Based on eight audio-recorded and transcribed genetic consultations from the UK, and drawing upon rhetorical discourse analysis, our findings suggest that (i) parents tend to foreground their practical 'lifeworld' considerations to justify their decisional actions; and (ii) there is considerable variation in the ways in which parents respond to information and advice offered by the professionals. The affected parent often presents their lifeworld concerns as outweighing, at least for the present moment, the longer term health benefits that might accrue to their children. PMID:20801573

  11. Evidence of linkage disequilibrium in the Spanish polycystic kidney disease 1 population

    Energy Technology Data Exchange (ETDEWEB)

    Peral, B.; Ward, C.J.; Thomas, S.; Harris, P.C. (Institute of Molecular, Oxford (United Kingdom)); Stallings, R.L. (Los Alamos National Lab., NM (United States)); San Millan, J.L.; Moreno, F.

    1994-05-01

    Forty-one Spanish families with polycystic kidney disease 1 (PKD1) were studied for evidence of linkage disequilibrium between the disease locus and six closely linked markers. Four of these loci - three highly polymorphic microsatellites (SM6, CW3, and CW2) and a RFLP marker (BLu24) - are described for the first time in this report. Overall the results reveal many different haplotypes on the disease-carrying chromosome, suggesting a variety of independent PKD1 mutations. However, linkage disequilibrium was found between BLu24 and PKD1, and this was corroborated by haplotype analysis including the microsatellite polymorphisms. From this analysis a group of closely related haplotypes, consisting of four markers, was found on 40% of PKD1 chromosomes, although markers flanking this homogeneous region showed greater variability. This study has highlighted an interesting subpopulation of Spanish PKD1 chromosomes, many of which have a common origin, that may be useful for localizing the PKD1 locus more precisely. 37 refs., 1 fig., 4 tabs.

  12. First report of Polycystic kidney disease occurrence in Persian cats in Serbia.

    Science.gov (United States)

    Vucicevic, Milos; Slijepcevic, Dajana; Davitkov, Darko; Avdalovic, Vladimir; Aleksic-Kovacevic, Sanja; Stevanovic, Jevrosima; Stanimirovic, Zoran

    2016-03-31

    Polycystic kidney disease (PKD) is an inherited autosomal disorder in cats, mostly diagnosed in Persian cats. Renal cysts can be diagnosed by ultrasound, but cats must be at least 16 weeks old. The goals of this study were to assess the occurrence of PKD in Serbia using a randomly selected group of Persian cats, to compare the diagnostic e cacy of ultrasound and genetic tests, and to measure haematological and selected biochemical parameters. We examined 70 cats of Persian breed, between 4 months and 8 years of age. Complete blood count and selected biochemical parameters were measured, renal ultrasound was performed. Swabs of the oral cavity were obtained for genetic testing. Percentage of PKD positive cats identi ed by genetic testing was 48.6%, whilst only 18.6% were detected through ultrasound. Animals that were polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) positive and ultrasound negative ranged from 4 months to 3.5 years. All haematological and biochemical parameters were within the the normal range values in all examined cats. Genetic methods proved to be the most e ective for reliable and early diagnosis of PKD in Persian cats. DNA analysis can be used right after birth, and excludes the need for other diagnostic procedures, such as ultrasound. PMID:27033530

  13. Renal histology in polycystic kidney disease with incipient and advanced renal failure.

    Science.gov (United States)

    Zeier, M; Fehrenbach, P; Geberth, S; Möhring, K; Waldherr, R; Ritz, E

    1992-11-01

    Renal specimens were obtained at surgery or postmortem from patients with autosomal dominant polycystic kidney disease (ADPKD). Patients had either serum creatinine (SCr) below 350 mumol/liter (N = 12) or terminal renal failure (N = 50). Specimens were examined by two independent observers using a carefully validated score system. Mean glomerular diameters were similar in ADPKD patients with early renal failure (176 +/- 38 microns) and in victims of traffic accidents (177 +/- 23 microns), while they were significantly greater in diabetics with comparable renal function (205 +/- 16 microns). Glomerular diameters in ADPKD patients with terminal renal failure (191 +/- 45 microns) and with early renal failure were not significantly different. On average, 29% of glomeruli (17 to 62) were globally sclerosed in early renal failure, and 49% (19 to 93) in terminal renal failure. The proportion of glomeruli with segmental sclerosis was less than 4% in both groups. Marked vascular sclerosis, interstitial fibrosis, and tubular atrophy were present in early renal failure, and even more so in terminal renal failure. Interstitial infiltrates were scarce and consisted mainly of CD4 positive lymphocytes and CD68 positive macrophages. Immunestaining with monoclonal renin antibodies showed an increased juxtaglomerular index and expression of renin by arterioles adjacent to cysts, as well as by cyst wall epithelia. The data show more severe vascular and interstitial, but not glomerular, changes in ADPKD with advanced as compared to early renal failure.

  14. Prevalence of polycystic kidney disease in Persian and Persian related cats in France.

    Science.gov (United States)

    Barthez, P Y; Rivier, P; Begon, D

    2003-12-01

    The prevalence of polycystic kidney disease (PKD) has been estimated in the USA, Australia, UK, and Germany, but no data are available to date in France. The purpose of this study was to determine prevalence of PKD in Persian and Persian related breeds of cats in France. Medical records of all healthy cats presented for ultrasonographic screening of PKD between December 2000 and April 2002 were analysed from two centres (ENVL and ENVA). Cats were classified as positive when at least one anechoic cavity was found in at least one kidney. Prevalence of PKD was compared between the two screening centres, between different breeds evaluated, and between male and female using Chi-square test. A total of 310 cats were examined, including 92 at ENVL (57 Persians, 22 Exotic Shorthairs, 7 Chartreux, 4 Norwegian Forest Cats, and 2 Abyssins) and 218 at ENVA (163 Persians, 42 Exotic Shorthairs, 4 Chartreux, 4 British Shorthairs, 2 American Whirehairs, 2 Norwegian Forest Cats, and 1 American Shorthair). Prevalence of PKD was 41.8% in Persian cats and 39.1% in Exotic Shorthair. No PKD was detected in cats from other breeds. There was no significant difference between prevalence of PKD found in ENVL and ENVA, between prevalence of PKD in Persians and in Exotic Shorthairs, and prevalence of PKD in male and in female. Prevalence of PKD in Persians and Exotic Shorthair cats in France is currently high but is similar to prevalence in other parts of the world. Selection based on ultrasonographic detection of cysts should decrease prevalence of PKD in the future. PMID:14623204

  15. Increased urinary Angiotensinogen/Creatinine (AGT/Cr) ratio may be associated with reduced renal function in autosomal dominant polycystic kidney disease patients

    OpenAIRE

    Park, Hayne Cho; Kang, Ah-Young; Jang, Joon Young; Kim, Hyunsuk; Han, Miyeun; Oh, Kook-Hwan; Kim, Seung Hyup; Noh, Jung Woo; Cheong, Hae Il; Hwang, Young-Hwan; Ahn, Curie

    2015-01-01

    Background Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common hereditary kidney diseases that frequently result in renal failure. In this cross-sectional observational cohort study, we evaluated urinary angiotensinogen (AGT) as a potential biomarker to assess renal function in ADPKD. Methods Urinary AGT was measured in 233 ADPKD patients and its association with estimated glomerular filtration rate (eGFR) and height-adjusted total kidney volume (htTKV) were evaluat...

  16. Pancreatic Cysts in Autosomal Dominant Polycystic Kidney Disease: Prevalence and Association with PKD2 Gene Mutations.

    Science.gov (United States)

    Kim, Jin Ah; Blumenfeld, Jon D; Chhabra, Shalini; Dutruel, Silvina P; Thimmappa, Nanda Deepa; Bobb, Warren O; Donahue, Stephanie; Rennert, Hanna E; Tan, Adrian Y; Giambrone, Ashley E; Prince, Martin R

    2016-09-01

    Purpose To define the magnetic resonance (MR) imaging prevalence of pancreatic cysts in a cohort of patients with autosomal dominant polycystic kidney disease (ADPKD) compared with a control group without ADPKD that was matched for age, sex, and renal function. Materials and Methods In this HIPAA-compliant, institutional review board-approved study, all patients with ADPKD provided informed consent; for control subjects, informed consent was waived. Patients with ADPKD (n = 110) with mutations identified in PKD1 or PKD2 and control subjects without ADPKD or known pancreatic disease (n = 110) who were matched for age, sex, estimated glomerular filtration rate, and date of MR imaging examination were evaluated for pancreatic cysts by using axial and coronal single-shot fast spin-echo T2-weighted images obtained at 1.5 T. Total kidney volume and liver volume were measured. Univariate and multivariable logistic regression analyses were conducted to evaluate potential associations between collected variables and presence of pancreatic cysts among patients with ADPKD. The number, size, location, and imaging characteristics of the cysts were recorded. Results Patients with ADPKD were significantly more likely than control subjects to have at least one pancreatic cyst (40 of 110 patients [36%] vs 25 of 110 control subjects [23%]; P = .027). In a univariate analysis, pancreatic cysts were more prevalent in patients with ADPKD with mutations in PKD2 than in PKD1 (21 of 34 patients [62%] vs 19 of 76 patients [25%]; P = .0002). In a multivariable logistic regression model, PKD2 mutation locus was significantly associated with the presence of pancreatic cysts (P = .0004) and with liver volume (P = .038). Patients with ADPKD and a pancreatic cyst were 5.9 times more likely to have a PKD2 mutation than a PKD1 mutation after adjusting for age, race, sex, estimated glomerular filtration rate, liver volume, and total kidney volume. Conclusion Pancreatic cysts were more prevalent in

  17. Berberine slows cell growth in autosomal dominant polycystic kidney disease cells

    Energy Technology Data Exchange (ETDEWEB)

    Bonon, Anna; Mangolini, Alessandra [Department of Biomedical and Specialty Surgical Sciences, University of Ferrara, 44121 Ferrara (Italy); Pinton, Paolo [Department of Morphology, Surgery and Experimental Medicine, Section of General Pathology, University of Ferrara, 44121 Ferrara (Italy); Senno, Laura del [Department of Biomedical and Specialty Surgical Sciences, University of Ferrara, 44121 Ferrara (Italy); Aguiari, Gianluca, E-mail: dsn@unife.it [Department of Biomedical and Specialty Surgical Sciences, University of Ferrara, 44121 Ferrara (Italy)

    2013-11-22

    Highlights: •Berberine at appropriate doses slows cell proliferation in ADPKD cystic cells. •Reduction of cell growth by berberine occurs by inhibition of ERK and p70-S6 kinase. •Higher doses of berberine cause an overall cytotoxic effect. •Berberine overdose induces apoptotic bodies formation and DNA fragmentation. •Antiproliferative properties of this drug make it a new candidate for ADPKD therapy. -- Abstract: Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary monogenic disorder characterized by development and enlargement of kidney cysts that lead to loss of renal function. It is caused by mutations in two genes (PKD1 and PKD2) encoding for polycystin-1 and polycystin-2 proteins which regulate different signals including cAMP, mTOR and EGFR pathways. Abnormal activation of these signals following PC1 or PC2 loss of function causes an increased cell proliferation which is a typical hallmark of this disease. Despite the promising findings obtained in animal models with targeted inhibitors able to reduce cystic cell growth, currently, no specific approved therapy for ADPKD is available. Therefore, the research of new more effective molecules could be crucial for the treatment of this severe pathology. In this regard, we have studied the effect of berberine, an isoquinoline quaternary alkaloid, on cell proliferation and apoptosis in human and mouse ADPKD cystic cell lines. Berberine treatment slows cell proliferation of ADPKD cystic cells in a dose-dependent manner and at high doses (100 μg/mL) it induces cell death in cystic cells as well as in normal kidney tubule cells. However, at 10 μg/mL, berberine reduces cell growth in ADPKD cystic cells only enhancing G{sub 0}/G{sub 1} phase of cell cycle and inhibiting ERK and p70-S6 kinases. Our results indicate that berberine shows a selected antiproliferative activity in cellular models for ADPKD, suggesting that this molecule and similar natural compounds could open new

  18. Analysis of data from the ERA-EDTA Registry indicates that conventional treatments for chronic kidney disease do not reduce the need for renal replacement therapy in autosomal dominant polycystic kidney disease.

    NARCIS (Netherlands)

    Spithoven, E.M.; Kramer, A.; Meijer, E.; Orskov, B.; Wanner, C.; Caskey, F.; Collart, F.; Finne, P.; Fogarty, D.G.; Groothoff, J.W.; Hoitsma, A.J.; Nogier, M.B.; Postorino, M.; Ravani, P.; Zurriaga, O.; Jager, K.J.; Gansevoort, R.T.; Bindels, R.J.M.

    2014-01-01

    Autosomal dominant polycystic kidney disease (ADPKD) is a major cause of end-stage kidney failure, but is often identified early and therefore amenable to timely treatment. Interventions known to postpone the need for renal replacement therapy (RRT) in non-ADPKD patients have also been tested in ADP

  19. Analysis of data from the ERA-EDTA Registry indicates that conventional treatments for chronic kidney disease do not reduce the need for renal replacement therapy in autosomal dominant polycystic kidney disease

    NARCIS (Netherlands)

    Spithoven, Edwin M.; Kramer, Anneke; Meijer, Esther; Orskov, Bjarne; Wanner, Christoph; Caskey, Fergus; Collart, Frederic; Finne, Patrik; Fogarty, Damian G.; Groothoff, Jaap W.; Hoitsma, Andries; Nogier, Marie-Beatrice; Postorino, Maurizio; Ravani, Pietro; Zurriaga, Oscar; Jager, Kitty J.; Gansevoort, Ron T.

    2014-01-01

    Autosomal dominant polycystic kidney disease (ADPKD) is a major cause of end-stage kidney failure, but is often identified early and therefore amenable to timely treatment. Interventions known to postpone the need for renal replacement therapy (RRT) in non-ADPKD patients have also been tested in ADP

  20. The polycystic kidney disease protein PKD2 interacts with Hax-1, a protein associated with the actin cytoskeleton

    OpenAIRE

    Gallagher, Anna Rachel; Cedzich, Anna; Gretz, Norbert; Somlo, Stefan; Witzgall, Ralph

    2000-01-01

    Despite the recent positional cloning of the PKD1 and PKD2 genes, which are mutated in the great majority of patients with autosomal-dominant polycystic kidney disease (PKD), the pathogenic mechanism for cyst formation is still unclear. The finding, that the PKD1 and PKD2 proteins interact with each other through their COOH termini, suggests that both proteins are part of the same protein complex or signal transduction pathway. Using a yeast two-hybrid screen with the PKD2 protein, we isolate...

  1. Hyperaldosteronism and cardiovascular risk in patients with autosomal dominant polycystic kidney disease.

    Science.gov (United States)

    Lai, Silvia; Petramala, Luigi; Mastroluca, Daniela; Petraglia, Emanuela; Di Gaeta, Alessandro; Indino, Elena; Panebianco, Valeria; Ciccariello, Mauro; Shahabadi, Hossein H; Galani, Alessandro; Letizia, Claudio; D'Angelo, Anna Rita

    2016-07-01

    Hypertension is commonly associated with autosomal dominant polycystic kidney disease (ADPKD), often discovered before the onset of renal failure, albeit the pathogenetic mechanisms are not well elucidated. Hyperaldosteronism in ADPKD may contribute to the development of insulin resistance and endothelial dysfunction, and progression of cardiorenal disease. The aim of study was to evaluate the prevalence of primary aldosteronism (PA) in ADPKD patients and identify some surrogate biomarkers of cardiovascular risk.We have enrolled 27 hypertensive ADPKD patients with estimated glomerular filtration rate (eGFR) ≥ 60 mL/min, evaluating the renin-angiotensin-aldosterone system (RAAS), inflammatory indexes, nutritional status, homocysteine (Hcy), homeostasis model assessment-insulin resistance (HOMA-IR), mineral metabolism, microalbuminuria, and surrogate markers of atherosclerosis [carotid intima media thickness (cIMT), ankle/brachial index (ABI), flow mediated dilation (FMD), renal resistive index (RRI) and left ventricular mass index (LVMI)]. Furthermore, we have carried out the morpho-functional magnetic resonance imaging (MRI) with high-field 3 T Magnetom Avanto.We have divided patients into group A, with normal plasma aldosterone concentration (PAC) and group B with PA, present in 9 (33%) of overall ADPKD patients. Respect to group A, group B showed a significant higher mean value of LVMI, HOMA-IR and Hcy (P = 0.001, P = 0.004, P = 0.018; respectively), and a lower value of FMD and 25-hydroxyvitamin D (25-OH-VitD) (P = 0.037, P = 0.019; respectively) with a higher prevalence of non-dipper pattern at Ambulatory Blood Pressure Monitoring (ABPM) (65% vs 40%, P FMD, and 25-OH-VitD, considered as surrogate markers of atherosclerosis, compared to ADPKD patients with normal PAC values. Our results indicate a higher overall cardiovascular risk in ADPKD patients with inappropriate aldosterone secretion, and a screening for PA in all patients with

  2. New mutations in the PKD1 gene in Czech population with autosomal dominant polycystic kidney disease

    Directory of Open Access Journals (Sweden)

    Merta Miroslav

    2009-08-01

    Full Text Available Abstract Background Autosomal dominant polycystic kidney disease (ADPKD is the most common hereditary renal disease. The disease is caused by mutations of the PKD1 (affecting roughly 85% of ADPKD patients and PKD2 (affecting roughly 14% of ADPKD patients genes, although in several ADPKD families, the PKD1 and/or PKD2 linkage was not found. Mutation analysis of the PKD1 gene is complicated by the presence of highly homologous genomic duplications of the first two thirds of the gene. Methods The direct detection of mutations in the non-duplicated region of the PKD1 gene was performed in 90 unrelated individuals, consisting of 58 patients with end-stage renal failure (manifesting before their 50th year of life and 32 individuals from families where the disease was clearly linked to the PKD1 gene. Mutation screening was performed using denaturing gradient gel electrophoresis (DGGE. DNA fragments showing an aberrant electrophoretic banding pattern were sequenced. Results In the non-duplicated region of the PKD1 gene, 19 different likely pathogenic germline sequence changes were identified in 19 unrelated families/individuals. Fifteen likely pathogenic sequence changes are unique for the Czech population. The following probable mutations were identified: 9 nonsense mutations, 6 likely pathogenic missense mutations, 2 frameshifting mutations, one in-frame deletion and probable splice site mutation. In the non-duplicated region of the PKD1 gene, 16 different polymorphisms or unclassified variants were detected. Conclusion Twenty probable mutations of the PKD1 gene in 90 Czech individuals (fifteen new probable mutations were detected. The establishment of localization and the type of causal mutations and their genotype – phenotype correlation in ADPKD families will improve DNA diagnosis and could help in the assessment of the clinical prognosis of ADPKD patients.

  3. PKD1 and PKD2 mutations in Slovenian families with autosomal dominant polycystic kidney disease

    Directory of Open Access Journals (Sweden)

    Adamlje Anton

    2006-01-01

    Full Text Available Abstract Background Autosomal dominant polycystic kidney disease (ADPKD is a genetically heterogeneous disorder caused by mutations in at least two different loci. Prior to performing mutation screening, if DNA samples of sufficient number of family members are available, it is worthwhile to assign the gene involved in disease progression by the genetic linkage analysis. Methods We collected samples from 36 Slovene ADPKD families and performed linkage analysis in 16 of them. Linkage was assessed by the use of microsatellite polymorphic markers, four in the case of PKD1 (KG8, AC2.5, CW3 and CW2 and five for PKD2 (D4S1534, D4S2929, D4S1542, D4S1563 and D4S423. Partial PKD1 mutation screening was undertaken by analysing exons 23 and 31–46 and PKD2 . Results Lod scores indicated linkage to PKD1 in six families and to PKD2 in two families. One family was linked to none and in seven families linkage to both genes was possible. Partial PKD1 mutation screening was performed in 33 patients (including 20 patients from the families where linkage analysis could not be performed. We analysed PKD2 in 2 patients where lod scores indicated linkage to PKD2 and in 7 families where linkage to both genes was possible. We detected six mutations and eight polymorphisms in PKD1 and one mutation and three polymorphisms in PKD2. Conclusion In our study group of ADPKD patients we detected seven mutations: three frameshift, one missense, two nonsense and one putative splicing mutation. Three have been described previously and 4 are novel. Three newly described framesfift mutations in PKD1 seem to be associated with more severe clinical course of ADPKD. Previously described nonsense mutation in PKD2 seems to be associated with cysts in liver and milder clinical course.

  4. Targeted rescue of a polycystic kidney disease mutation by lysosomal inhibition.

    Science.gov (United States)

    Hofherr, Alexis; Wagner, Claudius J; Watnick, Terry; Köttgen, Michael

    2016-04-01

    Autosomal dominant polycystic kidney disease (ADPKD) is the most common monogenic cause of end-stage renal disease. The molecular pathogenesis of ADPKD is not completely known, and there is no approved therapy. To date, there is limited knowledge concerning the molecular consequences of specific disease-causing mutations. Here we show that the ADPKD missense variant TRPP2(D511V) greatly reduces TRPP2 protein stability, and that TRPP2(D511V) function can be rescued in vivo by small molecules targeting the TRPP2 degradation pathway. Expression of the TRPP2(D511V) protein was significantly reduced compared to wild-type TRPP2. Inhibition of lysosomal degradation of TRPP2(D511V) by the US Food and Drug Administration (FDA)-approved drug chloroquine strongly increased TRPP2 protein levels in vitro. The validation of these results in vivo requires appropriate animal models. However, there are currently no mouse models harboring human PKD2 missense mutations, and screening for chemical rescue of patient mutations in rodent models is time-consuming and expensive. Therefore, we developed a Drosophila melanogaster model expressing the ortholog of TRPP2(D511V) to test chemical rescue of mutant TRPP2 in vivo. Notably, chloroquine was sufficient to improve the phenotype of flies expressing mutant TRPP2. Thus, this proof-of-concept study highlights the potential of directed therapeutic approaches for ADPKD, and provides a rapid-throughput experimental model to screen PKD2 patient mutations and small molecules in vivo. PMID:26924047

  5. Identification of novel mutations in Chinese Hans with autosomal dominant polycystic kidney disease

    Directory of Open Access Journals (Sweden)

    Yu Chaowen

    2011-12-01

    Full Text Available Abstract Background Autosomal dominant polycystic kidney disease (ADPKD is the most common inherited renal disease with an incidence of 1 in 400 to 1000. The disease is genetically heterogeneous, with two genes identified: PKD1 (16p13.3 and PKD2 (4q21. Molecular diagnosis of the disease in at-risk individuals is complicated due to the structural complexity of PKD1 gene and the high diversity of the mutations. This study is the first systematic ADPKD mutation analysis of both PKD1 and PKD2 genes in Chinese patients using denaturing high-performance liquid chromatography (DHPLC. Methods Both PKD1 and PKD2 genes were mutation screened in each proband from 65 families using DHPLC followed by DNA sequencing. Novel variations found in the probands were checked in their family members available and 100 unrelated normal controls. Then the pathogenic potential of the variations of unknown significance was examined by evolutionary comparison, effects of amino acid substitutions on protein structure, and effects of splice site alterations using online mutation prediction resources. Results A total of 92 variations were identified, including 27 reported previously. Definitely pathogenic mutations (ten frameshift, ten nonsense, two splicing defects and one duplication were identified in 28 families, and probably pathogenic mutations were found in an additional six families, giving a total detection level of 52.3% (34/65. About 69% (20/29 of the mutations are first reported with a recurrent mutation rate of 31%. Conclusions Mutation study of PKD1 and PKD2 genes in Chinese Hans with ADPKD may contribute to a better understanding of the genetic diversity between different ethnic groups and enrich the mutation database. Besides, evaluating the pathogenic potential of novel variations should also facilitate the clinical diagnosis and genetic counseling of the disease.

  6. A novel mutation causing nephronophthisis in the Lewis polycystic kidney rat localises to a conserved RCC1 domain in Nek8

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    McCooke John K

    2012-08-01

    Full Text Available Abstract Background Nephronophthisis (NPHP as a cause of cystic kidney disease is the most common genetic cause of progressive renal failure in children and young adults. NPHP is characterized by abnormal and/or loss of function of proteins associated with primary cilia. Previously, we characterized an autosomal recessive phenotype of cystic kidney disease in the Lewis Polycystic Kidney (LPK rat. Results In this study, quantitative trait locus analysis was used to define a ~1.6Mbp region on rat chromosome 10q25 harbouring the lpk mutation. Targeted genome capture and next-generation sequencing of this region identified a non-synonymous mutation R650C in the NIMA (never in mitosis gene a- related kinase 8 ( Nek8 gene. This is a novel Nek8 mutation that occurs within the regulator of chromosome condensation 1 (RCC1-like region of the protein. Specifically, the R650C substitution is located within a G[QRC]LG repeat motif of the predicted seven bladed beta-propeller structure of the RCC1 domain. The rat Nek8 gene is located in a region syntenic to portions of human chromosome 17 and mouse 11. Scanning electron microscopy confirmed abnormally long cilia on LPK kidney epithelial cells, and fluorescence immunohistochemistry for Nek8 protein revealed altered cilia localisation. Conclusions When assessed relative to other Nek8 NPHP mutations, our results indicate the whole propeller structure of the RCC1 domain is important, as the different mutations cause comparable phenotypes. This study establishes the LPK rat as a novel model system for NPHP and further consolidates the link between cystic kidney disease and cilia proteins.

  7. Kidney Cysts

    Science.gov (United States)

    ... fluid-filled sac. There are two types of kidney cysts. Polycystic kidney disease (PKD) runs in families. In PKD, the ... place of the normal tissue. They enlarge the kidneys and make them work poorly, leading to kidney ...

  8. Identification of Mutation of PKD2 Gene for Autosomal Dominant Polycystic Kidney Disease in Selected Gujarat Population

    Directory of Open Access Journals (Sweden)

    Darshana Chaudhary

    2012-10-01

    Full Text Available Autosomal dominant polycystic kidney (ADPKD is one of the most common hereditary disease with 1 in 1000 in general population. ADPKD is characterised by formation of fluid filled cysts in both kidneys that leads to progressive renal failure. It is a heterogeneous disorder with mutations in two genes pkd1 and pkd2 gene. In Gujarat state ADPKD families the phenotype and genetic background has not previously been characterised. Therefore, in this study 4 subjects with ADPKD from Institute of Kidney Disease Research Centre, Ahmedabad, and Civil Hospital were identified and investigated for genomic study. The aim was to identify pkd2 gene mutation analysis for selected population. The mutation screening of pkd1 gene is difficult because of its size (around 14 kb and it contains 46 exons. For the same study purpose we have used ABI 3730 SEQUENCER. The sequence data were compared and contrast within a group as well as with the available source of gene bank NCBI. The mutation co-segregating with ADPKD was identified in all 4 subjects for PKD2 gene. Of the four mutations 2 mutations were frameshift mutation, 1 was nonsense mutation and 1 was missense mutation. The maximum total score was matched with data and found to be few exceptions. Finally the mutation detection was done with help of codon code software with output of point mutation and heterozygous mutation. In selected patient out of 4 three sequencing samples were denoted a point mutation. So our findings reveal that the maximum patients showing were in heredited to polycystic kidney disease.

  9. Clinical characteristics and disease predictors of a large Chinese cohort of patients with autosomal dominant polycystic kidney disease.

    Directory of Open Access Journals (Sweden)

    Dongping Chen

    Full Text Available OBJECTIVE: Autosomal dominant polycystic kidney disease (ADPKD is a relentlessly progressing form of chronic kidney disease for which there is no cure. The aim of this study was to characterize Chinese patients with ADPKD and to identify the factors which predict cyst growth and renal functional deterioration. METHODS: To analyze disease predicting factors we performed a prospective longitudinal observational study in a cohort of 541 Chinese patients with ADPKD and an eGFR ≥ 30 ml/min/1.73 m(2. Patients were followed clinically and radiologically with sequential abdominal magnetic resonance imaging (MRI. Clinical characteristics and laboratory data were related to changes in estimated glomerular filtration rate (eGFR and total kidney volume (TKV. A linear regression model was developed to analyze the factors which determine eGFR and TKV changes. RESULTS: The age range of this unselected cohort ranged from 4 to 77 years. Median follow-up time was 14.3 ± 10.6 months. Although inter-individual differences in eGFR and TKV were large, there was a consistent link between these two parameters. Baseline log10-transformed TKV and urinary protein/creatinine ratio were identified as the major predictors for a faster eGFR decline and were associated with a higher TKV growth rate. Interestingly, a lower thrombocyte count correlated significantly with lower eGFR (r = 0.222 and higher TKV (r = 0.134. CONCLUSIONS: This large cohort of Chinese patients with ADPKD provides unique epidemiological data for comparison with other cohorts of different ethnicity. In Chinese patients we identified a lower thrombocyte count as a significant predictor of disease progression. These results are important for the design of future clinical trials to retard polycystic kidney disease progression.

  10. Liver transplantation in polycystic liver disease: a relevant treatment modality for adults?

    DEFF Research Database (Denmark)

    Krohn, P.S.; Hillingso, J.G.; Kirkegaard, P.

    2008-01-01

    OBJECTIVE: Polycystic liver disease (PLD) is a rare, hereditary, benign disorder. Hepatic failure is uncommon and symptoms are caused by mass effects leading to abdominal distension and pain. Liver transplantation (LTX) offers fully curative treatment, but there is still some controversy about...... whether it is a relevant modality considering the absence of liver failure, relative organ shortage, perioperative risks and lifelong immunosuppression. The purpose of this study was to review our experience of LTX for PLD and to compare the survival with the overall survival of patients who underwent LTX....../kidney transplantation. One patient had undergone kidney transplantation 10 years earlier. RESULTS: Median follow-up was 55 months. One patient who underwent combined transplantation died after 5.4 months because of multiorgan failure after re-LTX, and one patient, with well-functioning grafts, died of lymphoma after 7...

  11. Renal replacement therapy for autosomal dominant polycystic kidney disease (ADPKD) in Europe : prevalence and survival-an analysis of data from the ERA-EDTA Registry

    NARCIS (Netherlands)

    Spithoven, Edwin M.; Kramer, Anneke; Meijer, Esther; Orskov, Bjarne; Wanner, Christoph; Abad, Jose M.; Areste, Nuria; Alonso de la Torre, Ramon; Caskey, Fergus; Couchoud, Cecile; Finne, Patrik; Heaf, James; Hoitsma, Andries; de Meester, Johan; Pascual, Julio; Postorino, Maurizio; Ravani, Pietro; Zurriaga, Oscar; Jager, Kitty J.; Gansevoort, Ron T.

    2014-01-01

    Background. Autosomal dominant polycystic kidney disease (ADPKD) is the fourth most common renal disease requiring renal replacement therapy (RRT). Still, there are few epidemiological data on the prevalence of, and survival on RRT for ADPKD. Methods. This study used data from the ERA-EDTA Registry

  12. Erythropoietin production in renal cell carcinoma and renal cysts in autosomal dominant polycystic kidney disease in a chronic dialysis patient with polycythemia: A case report

    OpenAIRE

    Ito, Keiichi; Asano, Takako; TOMINAGA, SUSUMU; Yoshii, Hidehiko; SAWAZAKI, HARUTAKE; ASANO, TOMOHIKO

    2014-01-01

    In patients undergoing chronic hemodialysis (HD), erythropoietin (EPO) production from the kidney generally decreases and renal anemia develops. Patients without anemia, but with high serum EPO (sEPO) levels are rare among HD patients. The current study presents the case of a 67-year-old female HD patient with autosomal dominant polycystic kidney disease (ADPKD) and renal cell carcinoma (RCC), manifesting polycythemia with elevated sEPO levels. A radical nephrectomy was performed, which dimin...

  13. Relationship of urinary endothelin-1 with estimated glomerular filtration rate in autosomal dominant polycystic kidney disease: a pilot cross-sectional analysis

    OpenAIRE

    Raina, Rupesh; Lou, Linda; Berger, Bruce; Vogt, Beth; Do, Angelique Sao-Mai; Cunningham, Robert; Vasavada, Pauravi; Herrmann, Karin; Dell, Katherine; Simonson, Michael

    2016-01-01

    Background The pathogenesis of progressive renal insufficiency in autosomal dominant polycystic kidney disease (ADPKD) is unclear. Evidence from experimental models of ADPKD suggests that elevated endothelin-1 (ET-1) drives cyst growth, renal fibrosis and loss of renal function, but whether ET-1 is elevated in humans with ADPKD is uncertain. Methods In a cross-sectional study of ADPKD we measured urinary ET-1, a surrogate for ET-1 in kidney cortex, in spot collections corrected for creatinine...

  14. A developmentally plastic adult mouse kidney cell line spontaneously generates multiple adult kidney structures

    International Nuclear Information System (INIS)

    Despite exciting new possibilities for regenerative therapy posed by the ability to induce pluripotent stem cells, recapitulation of three-dimensional kidneys for repair or replacement has not been possible. ARID3a-deficient mouse tissues generated multipotent, developmentally plastic cells. Therefore, we assessed the adult mouse ARID3a−/− kidney cell line, KKPS5, which expresses renal progenitor surface markers as an alternative cell source for modeling kidney development. Remarkably, these cells spontaneously developed into multicellular nephron-like structures in vitro, and engrafted into immunocompromised medaka mesonephros, where they formed mouse nephron structures. These data implicate KKPS5 cells as a new model system for studying kidney development. - Highlights: • An ARID3a-deficient mouse kidney cell line expresses multiple progenitor markers. • This cell line spontaneously forms multiple nephron-like structures in vitro. • This cell line formed mouse kidney structures in immunocompromised medaka fish kidneys. • Our data identify a novel model system for studying kidney development

  15. A developmentally plastic adult mouse kidney cell line spontaneously generates multiple adult kidney structures

    Energy Technology Data Exchange (ETDEWEB)

    Webb, Carol F., E-mail: carol-webb@omrf.org [Department of Cell Biology, University of Oklahoma Health Sciences Center, Oklahoma City, OK (United States); Immunobiology and Cancer Research, Oklahoma Medical Research Foundation, Oklahoma City, OK (United States); Department of Microbiology and Immunology, University of Oklahoma Health Sciences Center, Oklahoma City, OK (United States); Ratliff, Michelle L., E-mail: michelle-ratliff@omrf.org [Immunobiology and Cancer Research, Oklahoma Medical Research Foundation, Oklahoma City, OK (United States); Powell, Rebecca, E-mail: rebeccapowell@gmail.com [Department of Cell Biology, University of Oklahoma Health Sciences Center, Oklahoma City, OK (United States); Wirsig-Wiechmann, Celeste R., E-mail: celeste-wirsig@ouhsc.edu [Department of Cell Biology, University of Oklahoma Health Sciences Center, Oklahoma City, OK (United States); Lakiza, Olga, E-mail: olga-lakiza@ouhsc.edu [Department of Cell Biology, University of Oklahoma Health Sciences Center, Oklahoma City, OK (United States); Obara, Tomoko, E-mail: tomoko-obara@ouhsc.edu [Department of Cell Biology, University of Oklahoma Health Sciences Center, Oklahoma City, OK (United States)

    2015-08-07

    Despite exciting new possibilities for regenerative therapy posed by the ability to induce pluripotent stem cells, recapitulation of three-dimensional kidneys for repair or replacement has not been possible. ARID3a-deficient mouse tissues generated multipotent, developmentally plastic cells. Therefore, we assessed the adult mouse ARID3a−/− kidney cell line, KKPS5, which expresses renal progenitor surface markers as an alternative cell source for modeling kidney development. Remarkably, these cells spontaneously developed into multicellular nephron-like structures in vitro, and engrafted into immunocompromised medaka mesonephros, where they formed mouse nephron structures. These data implicate KKPS5 cells as a new model system for studying kidney development. - Highlights: • An ARID3a-deficient mouse kidney cell line expresses multiple progenitor markers. • This cell line spontaneously forms multiple nephron-like structures in vitro. • This cell line formed mouse kidney structures in immunocompromised medaka fish kidneys. • Our data identify a novel model system for studying kidney development.

  16. Exome sequencing identifies compound heterozygous PKHD1mutations as a cause of autosomal recessive polycystic kidney disease

    Institute of Scientific and Technical Information of China (English)

    ZHANG Da; LU Lin; YANG Hong-bo; LI Mei; SUN Hao; ZENG Zheng-pei; LI Xin-ping; XIA Wei-bo; XING Xiao-ping

    2012-01-01

    Background Autosomal recessive polycystic kidney disease (ARPKD) is a rare inherited disease,which is a disorder with multiple organ involvement,mainly the kidney and liver.It is caused by mutations in the PKHD1 gene.Here,we reported the clinical characteristics of a case with ARPKD and analyze the genetic features of this patient as well as of his father using targeted exome sequencing and Sanger sequencing.Methods Genomic DNA was extracted from peripheral blood leukocytes obtained from a patient with ARPKD.The mutations were identified using exome sequencing and confirmed by Sanger sequencing.Results The patient was diagnosed as ARPKD based on ultrasonography and abdominal computed tomography which showed polycystic changes,multiple calcinosis of both kidneys,and multiple dilated bile ducts of the liver.Compound heterozygous PKHD1 gene mutations A979G and G5935A,which lead to substitution of an asparagine for an aspartate at amino acid 327 (N327D) and a glycine for an arginine at amino acid 1979 (G1979R) respectively,were identified using targeted exome sequencing and confirmed by Sanger sequencing for the patient.In addition,the father of the patient was identified to be a carrier of heterozygous A979G mutation of this gene.Conclusions We identified that the compound heterozygous PKHD1 gene mutations are the molecular basis of the patient with ARPKD.Targeted exome sequencing is suitable for genetic diagnosis of single-gene inherited diseases like ARPKD in which the pathogenic gene is a large.

  17. Comparison between ultrasound and genetic testing for the early diagnosis of polycystic kidney disease in Persian and Exotic Shorthair cats.

    Science.gov (United States)

    Bonazzi, Mattia; Volta, Antonella; Gnudi, Giacomo; Cozzi, Maria C; Strillacci, Maria G; Polli, Michele; Longeri, Maria; Manfredi, Sabrina; Bertoni, Giorgio

    2009-06-01

    Autosomal-dominant polycystic kidney disease (AD-PKD) is common in Persians and Persians-related breeds. The aims of this study were to evaluate the sensitivity and specificity of early ultrasound examination and to compare ultrasound and genetic testing for early diagnosis. Sixty-three Persians and seven Exotic Shorthairs were considered. All underwent ultrasonographic and genetic testing (polymerase chain reaction/restriction fragment length polymorphism (PCR/RFLP) assay) between 2.5 and 3.5 months of age (10-14 weeks). With ultrasound, 41.4% showed renal cysts, while 37.1% were PKD positive by genetic testing and DNA sequencing. Six cats with at least one renal cyst were negative by genetic testing, while only one cat negative at ultrasound resulted positive at genetic test. DNA sequencing of three polycystic cats, negative by genetic test, revealed they were heterozygous for the mutation. Agreement was described by Cohen's kappa that resulted 0.85, considering genetic test and DNA sequencing. Sensitivity and specificity of ultrasound were 96.2% and 91%, respectively. Sensitivity was higher and specificity lower than reported previously. The higher sensitivity could be due to improved technical capabilities of ultrasound machines and transducers. Other causes of PKD could explain the lower specificity. In conclusion, ultrasound resulted in a reliable diagnostic method for feline AD-PKD1 at early age and it should always be used with genetic testing, in order to reach a complete screening programme and eventually to identify other genetic mutations. PMID:19046910

  18. Relationship of Copeptin, a Surrogate Marker for Arginine Vasopressin, With Change in Total Kidney Volume and GFR Decline in Autosomal Dominant Polycystic Kidney Disease : Results From the CRISP Cohort

    NARCIS (Netherlands)

    Boertien, Wendy E.; Meijer, Esther; Li, Jie; Bost, James E.; Struck, Joachim; Flessner, Michael F.; Gansevoort, Ron T.; Torres, Vicente E.

    2013-01-01

    Background: Experimental studies indicate that arginine vasopressin (AVP) may have deleterious effects in the pathogenesis of autosomal dominant polycystic kidney disease (ADPKD). However, the significance of AVP in human ADPKD is unclear. Study Design: Longitudinal observational study with 8.5 (IQR

  19. POTTER FACIES WITH POLYCYSTIC KIDNEY DISEASE IN ASS OCIATION WITH OTHER RARE CONGENITAL ANOMALIES: TWO CASE REPO RTS

    Directory of Open Access Journals (Sweden)

    Sudhanshu Kumar

    2013-04-01

    Full Text Available ABSTRACT: Potter's sequence is more appropriate terminology than potter facies, since not every individual with this syndrome has exactly the same set of symptoms and signs but they share a common chain of events triggered by differe nt causes, leading to the same endpoint of reduced or absent amniotic fluid. It has a charact eristic facial appearance associated with other abnormalities as Ophthalmic(Cataract, Cardiovascula r (Ventricular septal defect. Fallot's tetralogy, Patent ductus arteriosus, and muscu loskeletal (Clubbed feet, Sacral agenesis . Here we are presenting two cases of potter sequence due to polycystic kidney disease ( type-i in association with other congenital anomalies ( ab sence of left diaphragm ,pericardial effusion, pulmonary hypoplasia which is rare and incompatible to life

  20. Lack of genetic association among coat colors, progressive retinal atrophy and polycystic kidney disease in Persian cats.

    Science.gov (United States)

    Rah, HyungChul; Maggs, David J; Lyons, Leslie A

    2006-10-01

    An inherited form of progressive retinal atrophy (PRA) is recognized in Persian cats; however, the prevalence of PRA in the breed has not been determined. Breeders suggest that cats from only brown ('chocolate') or Himalayan ('pointed') lines are at risk for PRA, suggesting the disease is not widespread. This study was designed to evaluate whether PRA in Persian cats is associated with three coat colors, including chocolate, or with a highly prevalent inherited disease in this breed--polycystic kidney disease (PKD). Sixty related cats were evaluated for PRA by ophthalmic examination and genetically typed for PKD and the mutations that cause coat color variants in agouti, brown and color (producing the pointed coloration in Himalayan). No associations were identified among any of the traits, including between PRA and chocolate. These data suggest that PRA is not limited to cats with chocolate coat coloration and breeders and veterinarians should be aware that the prevalence of the disease may be higher than currently claimed.

  1. Renal ultrasonographic and computed tomographic appearance, volume, and function of cats with autosomal dominant polycystic kidney disease.

    Science.gov (United States)

    Reichle, Jean K; DiBartola, Stephen P; Léveillé, Renée

    2002-01-01

    The purpose of this study was to describe the ultrasonographic (US) and computed tomographic (CT) appearance of autosomal dominant polycystic kidney disease (ADPKD) in cats; to compare renal volume in cats with ADPKD (n = 5; mean age 59 +/- 10 months)) and normal cats (n = 5; mean age 66 +/- 10 months) using 2 imaging modalities, US and CT; and to calculate cyst volume using CT. Glomerular filtration rate (GFR) was determined by 2 methods: 99mTc-diethylene-triaminepentaacetic acid (99mTc-DPTA) scintigraphic uptake and 99-Tc-DTPA plasma clearance. Sonographically, ADPKD affected kidneys were characterized by multiple anechoic to hypoechoic, round to irregularly shaped structures with variation in size. Affected kidneys had indistinct corticomedullary junctions and foci of mineralization. Intravenous (IV) contrast medium administration allowed more definitive identification of cysts with CT, and identification of distortion of renal pelves by cysts. A significant difference (Welch ANOVA, P = 0.05) was detected between the US-estimated renal volumes of normal and affected cats. No statistically significant differences were detected in CT volume (between the normal and affected cats, or between US and CT volume measurements) or the 2 GFR methods. In this group of clinically normal, middle-aged ADPKD cats, renal function was within normal limits and not significantly different than normal. PMID:12175002

  2. Embolization of renal arteries before transplantation in patients with polycystic kidney disease: a single institution long-term experience

    Energy Technology Data Exchange (ETDEWEB)

    Petitpierre, F.; Cornelis, F.; Lasserre, A.S.; Tricaud, E.; Le Bras, Y.; Grenier, N. [Pellegrin Hospital, Department of Radiology, Bordeaux (France); Couzi, L.; Merville, P. [Pellegrin Hospital, Department of Nephrology, Bordeaux (France); Combe, C.; Ferriere, J.M. [Pellegrin Hospital, Department of Urology, Bordeaux (France)

    2015-11-15

    We aimed to retrospectively assess the long-term safety and efficacy of embolization of renal arteries (ERA) in patients with polycystic kidney disease (PKD) before renal transplantation. Between January 2008 and November 2013, 82 ERA procedures were performed on 76 kidneys in 73 patients (mean age 53 years, range: 34-72). All patients had terminal-stage PKD and were under dialysis and on the renal transplant waiting list with a temporary contraindication due to excessive renal volume. ERA was considered successful in 89.5 % (68/76) of embolized kidneys, meaning that the temporary contraindication for transplantation could be withdrawn for 65 patients (on average 5.6 months, range: 2.8-24.3, after ERA). Mean volume reduction was 40 (range: 2-69) at 3 months and 59 % (35-86) thereafter (both p < 0.001). Post-embolization syndrome occurred after 15 of 82 procedures (18.3 %). The severe complication rate was 4.9 %. Forty-three (67.7 %) transplantations were successfully conducted after ERA, with a mean follow-up of 26.2 months (range: 1.8-59.5), and the estimated 5-year graft survival rate was 95.3 % [95 % CI: 82.7-98.8]. ERA is a safe and effective alternative to nephrectomy before renal transplantation in patients with PKD. (orig.)

  3. A case of new familiar genetic variant of Autosomal Dominant Polycystic Kidney Disease -2: a case study

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    Tetiana eLitvinchuk

    2015-10-01

    Full Text Available AbstractBackground: Autosomal dominant polycystic kidney disease (ADPKD is an autosomal dominant renal cyst disorder due to mutations in genes coding for polycystin1 [PKD1 (85%-90% of cases, on ch 16p13.3] and polycystin 2 [PKD2 (10%-15% of cases, on ch 4q13-23], and PKD3 gene (gene unmapped. It is also associated with TSC2/PKD1 contiguous gene syndrome. ADPKD is usually inherited but new mutations without a family history occur in approximately 10% of the cases.Case presentation: A 17 y.o. boy was followed since he was a 13 y.o. for bilateral cystic kidney disease, hypertension and obesity. The diagnosis was an accidental finding during abdominal CT at age 13 to rule out appendicitis. Performed a renal ultrasonogram also demonstrated a multiple bilateral cysts.Because of parental history of bilateral renal cysts, PKD1 and PKD2, genetic testing was ordered. Results showed, PKD2 variant 1:3 bp deletion of TGT; nucleotide position: 1602_1604; codon position: 512-513; mRNA reading frame maintained. The same mutation later was identified in father. Conclusion: A smaller number of patients have a defect in the PKD2 locus on chromosome 4 (resulting in PKD2 disease. There are not known published cases on this familiar genetic variant of ADPKD2 cystic kidney disease. In this

  4. Therapeutic mTOR inhibition in autosomal dominant polycystic kidney disease: What is the appropriate serum level?

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    Canaud, G; Knebelmann, B; Harris, P C; Vrtovsnik, F; Correas, J-M; Pallet, N; Heyer, C M; Letavernier, E; Bienaimé, F; Thervet, E; Martinez, F; Terzi, F; Legendre, C

    2010-07-01

    Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited renal disease, and sirolimus, a mammalian target of rapamycin (mTOR) inhibitor, has been shown to significantly retard cyst expansion in animal models. The optimal therapeutic dose of sirolimus is not yet defined. Here, we report the history of a previously unknown ADPKD deceased donor whose kidneys were engrafted in two different recipients. One of the two received an immunosuppressive regimen based on sirolimus for 5 years while the other did not. After transplantation, both patients developed severe transplant cystic disease. Donor DNA sequence identified a new hypomorphic mutation in PKD1. The rate of cyst growth was identical in the two patients regardless of the treatment. While sirolimus treatment reduced the activation of mTOR in peripheral blood mononuclear cells, it failed to prevent mTOR activation in kidney tubular cells, this could account for the inefficiency of treatment on cyst growth. Together, our results suggest that the dose of sirolimus required to inhibit mTOR varies according to the tissue. PMID:20642692

  5. Polycystic liver disease: ductal plate malformation and the primary cilium

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    Wills, E.S.; Roepman, R.; Drenth, J.P.H.

    2014-01-01

    Polycystic livers are found in autosomal dominant polycystic kidney disease (ADPKD), caused by polycystic kidney disease (PKD)1 and PKD2 mutations in virtually all cases, and in isolated polycystic liver disease (PCLD), where 20% of cases are caused by mutations in Protein kinase C substrate 80K-H (

  6. A comparison of seminal vesicle size on CT between autosomal dominant polycystic kidney disease (ADPKD) patients and normal subjects

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    Joo, Ijin; Kim, Seung Hyup; Cho, Jeong Yeon (Dept. of Radiology, Seoul National Univ. College of Medicine, Inst. of Radiation Medicine, Seoul National Univ., Seoul (Korea)), e-mail: kimsh@radcom.snu.ac.kr

    2010-06-15

    Background: Extrarenal manifestations are common in autosomal dominant polycystic kidney disease (ADPKD). Although seminal vesicles can also be involved in patients with ADPKD, little is known about the size differences of the seminal vesicles between ADPKD patients and normal subjects. Purpose: To determine whether the size of seminal vesicles in ADPKD patients is larger than that in normal subjects with the use of three-dimensional (3D) CT. Material and Methods: Using a retrospective case-control study design, we reviewed the findings of 696 male patients with an age range of 20-69 years who underwent contrast enhanced multi-detector computed tomography (MDCT) imaging of the kidney in our institution from August 2007 to July 2008. A total of 68 male patients with ADPKD comprised the study group. Another 68 age-matched non-ADPKD male patients comprised the control group. The size of bilateral seminal vesicles was assessed by measurement of the short dimension on axial, coronal, and sagittal images by the use of a picture archiving and communication system (PACS). Results: The mean width of seminal vesicles in ADPKD patients was 1.70+-0.40 cm (axial images), 1.86+-0.45 cm (coronal), and 1.59+-0.39 cm (sagittal). For control group subjects, the mean width was 1.53+-0.29 cm (axial), 1.68+-0.43 cm (coronal), and 1.48+-0.31 cm (sagittal). The mean size differences between the ADPKD and control groups for the measured widths on axial and coronal images were statistically significant (P=0.01 and P=0.02, respectively). The width as measured on axial images showed a decrease with age in the control group subjects (linear trend, P=0.005), but no significant decrease was noted in ADPKD patients. Conclusion: The seminal vesicles were demonstrated to be larger in ADPKD patients as compared with normal subjects as determined with the use of 3D CT . Keywords: Autosomal dominant polycystic kidney disease (ADPKD), seminal vesicle, computed tomography, CT

  7. Microarray-based approach identifies microRNAs and their target functional patterns in polycystic kidney disease

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    Boehn Susanne NE

    2008-12-01

    Full Text Available Abstract Background MicroRNAs (miRNAs play key roles in mammalian gene expression and several cellular processes, including differentiation, development, apoptosis and cancer pathomechanisms. Recently the biological importance of primary cilia has been recognized in a number of human genetic diseases. Numerous disorders are related to cilia dysfunction, including polycystic kidney disease (PKD. Although involvement of certain genes and transcriptional networks in PKD development has been shown, not much is known how they are regulated molecularly. Results Given the emerging role of miRNAs in gene expression, we explored the possibilities of miRNA-based regulations in PKD. Here, we analyzed the simultaneous expression changes of miRNAs and mRNAs by microarrays. 935 genes, classified into 24 functional categories, were differentially regulated between PKD and control animals. In parallel, 30 miRNAs were differentially regulated in PKD rats: our results suggest that several miRNAs might be involved in regulating genetic switches in PKD. Furthermore, we describe some newly detected miRNAs, miR-31 and miR-217, in the kidney which have not been reported previously. We determine functionally related gene sets, or pathways to reveal the functional correlation between differentially expressed mRNAs and miRNAs. Conclusion We find that the functional patterns of predicted miRNA targets and differentially expressed mRNAs are similar. Our results suggest an important role of miRNAs in specific pathways underlying PKD.

  8. Autocrine IL-10 activation of the STAT3 pathway is required for pathological macrophage differentiation in polycystic kidney disease

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    Peda, Jacqueline D.; Salah, Sally M.; Wallace, Darren P.; Fields, Patrick E.; Grantham, Connor J.; Fields, Timothy A.

    2016-01-01

    ABSTRACT Polycystic kidney disease (PKD) is characterized by slow expansion of fluid-filled cysts derived from tubules within the kidney. Cystic expansion results in injury to surrounding parenchyma and leads to inflammation, scarring and ultimately loss of renal function. Macrophages are a key element in this process, promoting cyst epithelial cell proliferation, cyst expansion and disease progression. Previously, we have shown that the microenvironment established by cystic epithelial cells can ‘program’ macrophages, inducing M2-like macrophage polarization that is characterized by expression of markers that include Arg1 and Il10. Here, we functionally characterize these macrophages, demonstrating that their differentiation enhances their ability to promote cyst cell proliferation. This observation indicates a model of reciprocal pathological interactions between cysts and the innate immune system: cyst epithelial cells promote macrophage polarization to a phenotype that, in turn, is especially efficient in promoting cyst cell proliferation and cyst growth. To better understand the genesis of this macrophage phenotype, we examined the role of IL-10, a regulatory cytokine shown to be important for macrophage-stimulated tissue repair in other settings. Herein, we show that the acquisition of the pathological macrophage phenotype requires IL-10 secretion by the macrophages. Further, we demonstrate a requirement for IL-10-dependent autocrine activation of the STAT3 pathway. These data suggest that the IL-10 pathway in macrophages plays an essential role in the pathological relationship between cysts and the innate immune system in PKD, and thus could be a potential therapeutic target. PMID:27491076

  9. Low birth weight may increase body fat mass in adult women with polycystic ovarian syndrome

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    Minooee, Sonia; Ramezani Tehrani, Fahimeh; Mirmiran, Parvin; Azizi, Fereidoun

    2016-01-01

    Background: Women engaged with polycystic ovarian syndrome (PCOS), as the commonest endocrine disorder, are known to have a specific type of adiposity. Birth weight is among different contributors reported to be responsible for this diversity. Objective: We aimed to compare the relation between birth weight and body fat mass (BFM)/ body lean mass (BLM) in PCOS and their age and body mass index (BMI) matched normal controls. Materials and Methods: In this case-control study, a total number of 70 reproductive aged women, diagnosed with PCOS and 70 age- BMI matched healthy women without hirsutism and/or ovulatory dysfunction were recruited., control group had no polycystic ovaries in ultrasonographic scans. A detailed history of birth weight was taken and was divided into the following categories: PCOS than in controls (19.3% (27) vs. 15.7% (22)). Also body fat and lean mass (BFM, BLM) have increased in adult women with PCOS who were born underweight compared to their normal (19.8±9.05 vs. 12.9±4.5, p=0.001 and 48.9±6.9 vs. 43.2±5.8, p=0.004 respectively). Conclusion: Fetal birth weight influences on the adulthood obesity, BFM and BLM. This impact is different among women with and without PCOS. PMID:27326419

  10. The Role of G-Protein-Coupled Receptor Proteolysis Site Cleavage of Polycystin-1 in Renal Physiology and Polycystic Kidney Disease

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    Marie Trudel

    2016-01-01

    Full Text Available Polycystin-1 (PC1 plays an essential role in renal tubular morphogenesis, and PC1 dysfunction causes human autosomal dominant polycystic kidney disease. A fundamental characteristic of PC1 is post-translational modification via cleavage at the juxtamembrane GPCR proteolysis site (GPS motif that is part of the larger GAIN domain. Given the considerable biochemical complexity of PC1 molecules generated in vivo by this process, GPS cleavage has several profound implications on the intracellular trafficking and localization in association with their particular function. The critical nature of GPS cleavage is further emphasized by the increasing numbers of PKD1 mutations that significantly affect this cleavage process. The GAIN domain with the GPS motif therefore represents the key structural element with fundamental importance for PC1 and might be polycystic kidney disease’s (PKD Achilles’ heel in a large spectrum of PKD1 missense mutations. We highlight the central roles of PC1 cleavage for the regulation of its biogenesis, intracellular trafficking and function, as well as its significance in polycystic kidney disease.

  11. Systems biology approach to identify transcriptome reprogramming and candidate microRNA targets during the progression of polycystic kidney disease

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    Zhou Jing

    2011-04-01

    Full Text Available Abstract Background Autosomal dominant polycystic kidney disease (ADPKD is characterized by cyst formation throughout the kidney parenchyma. It is caused by mutations in either of two genes, PKD1 and PKD2. Mice that lack functional Pkd1 (Pkd1-/-, develop rapidly progressive cystic disease during embryogenesis, and serve as a model to study human ADPKD. Genome wide transcriptome reprogramming and the possible roles of micro-RNAs (miRNAs that affect the initiation and progression of cyst formation in the Pkd1-/- have yet to be studied. miRNAs are small, regulatory non-coding RNAs, implicated in a wide spectrum of biological processes. Their expression levels are altered in several diseases including kidney cancer, diabetic nephropathy and PKD. Results We examined the molecular pathways that modulate renal cyst formation and growth in the Pkd1-/- model by performing global gene-expression profiling in embryonic kidneys at days 14.5 and 17.5. Gene Ontology and gene set enrichment analysis were used to identify overrepresented signaling pathways in Pkd1-/- kidneys. We found dysregulation of developmental, metabolic, and signaling pathways (e.g. Wnt, calcium, TGF-β and MAPK in Pkd1-/- kidneys. Using a comparative transcriptomics approach, we determined similarities and differences with human ADPKD: ~50% overlap at the pathway level among the mis-regulated pathways was observed. By using computational approaches (TargetScan, miRanda, microT and miRDB, we then predicted miRNAs that were suggested to target the differentially expressed mRNAs. Differential expressions of 9 candidate miRNAs, miRs-10a, -30a-5p, -96, -126-5p, -182, -200a, -204, -429 and -488, and 16 genes were confirmed by qPCR. In addition, 14 candidate miRNA:mRNA reciprocal interactions were predicted. Several of the highly regulated genes and pathways were predicted as targets of miRNAs. Conclusions We have described global transcriptional reprogramming during the progression of PKD in

  12. Erythropoietin production in renal cell carcinoma and renal cysts in autosomal dominant polycystic kidney disease in a chronic dialysis patient with polycythemia: A case report.

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    Ito, Keiichi; Asano, Takako; Tominaga, Susumu; Yoshii, Hidehiko; Sawazaki, Harutake; Asano, Tomohiko

    2014-11-01

    In patients undergoing chronic hemodialysis (HD), erythropoietin (EPO) production from the kidney generally decreases and renal anemia develops. Patients without anemia, but with high serum EPO (sEPO) levels are rare among HD patients. The current study presents the case of a 67-year-old female HD patient with autosomal dominant polycystic kidney disease (ADPKD) and renal cell carcinoma (RCC), manifesting polycythemia with elevated sEPO levels. A radical nephrectomy was performed, which diminished the polycythemia, but the sEPO levels remained high. To determine the origin of the EPO production, immunohistochemistry was performed to detect EPO in the RCC and the renal cysts of the surgically resected kidney. In addition, the sEPO and EPO levels in a renal cyst were determined by enzyme immunoassay. EPO expression was demonstrated in RCC and cyst epithelial cells using immunohistochemistry, revealing extremely high EPO levels in the cyst fluid. Due to the remission of polycythemia following the nephrectomy, EPO production from the resected kidney appeared to have been the cause of the polycythemia. Positive EPO staining of the renal cysts in the resected polycystic kidney and sustained sEPO elevation following nephrectomy led to the hypothesis of EPO production in the renal cysts of the contralateral polycystic kidney. Although the postoperative EPO level was higher than the normal range, the hematocrit (Hct) level gradually decreased and recombinant human EPO was required again three months following the nephrectomy. Eight months after the nephrectomy, the Hct level was 30.2% with the use of rHuEPO. In conclusion, EPO production from RCC and renal cysts in ADPKD appeared to cause polycythemia in the HD patient. PMID:25295086

  13. Kidney-specific inactivation of the Pkd1 gene induces rapid cyst formation in developing kidneys and a slow onset of disease in adult mice.

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    Lantinga-van Leeuwen, Irma S; Leonhard, Wouter N; van der Wal, Annemieke; Breuning, Martijn H; de Heer, Emile; Peters, Dorien J M

    2007-12-15

    Autosomal dominant polycystic kidney disease, caused by mutations in the PKD1 gene, is characterized by progressive deterioration of kidney function due to the formation of thousands of cysts leading to kidney failure in mid-life or later. How cysts develop and grow is currently unknown, although extensive research revealed a plethora of cellular changes in cyst lining cells. We have constructed a tamoxifen-inducible, kidney epithelium-specific Pkd1-deletion mouse model. Upon administration of tamoxifen to these mice, a genomic fragment containing exons 2-11 of the Pkd1-gene is specifically deleted in the kidneys and cysts are formed. Interestingly, the timing of Pkd1-deletion has strong effects on the phenotype. At 1 month upon gene disruption, adult mice develop only a very mild cystic phenotype showing some small cysts and dilated tubules. Young mice, however, show massive cyst formation. In these mice, at the moment of gene disruption, cell proliferation takes place to elongate the nephron. Our data indicate that Pkd1 gene deficiency does not initiate sufficient autonomous cell proliferation leading to cyst formation and that additional stimuli are required. Furthermore, we show that one germ-line mutation of Pkd1 is already associated with increased proliferation. PMID:17932118

  14. Cyst infection in hospital-admitted autosomal dominant polycystic kidney disease patients is predominantly multifocal and associated with kidney and liver volume

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    Balbo, B.E.P. [Divisão de Nefrologia, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP (Brazil); Sapienza, M.T.; Ono, C.R. [Divisão de Medicina Nuclear, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP (Brazil); Jayanthi, S.K. [Divisão de Radiologia, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP (Brazil); Dettoni, J.B. [Divisão de Patologia, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP (Brazil); Castro, I.; Onuchic, L.F. [Divisão de Nefrologia, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP (Brazil)

    2014-06-13

    Positron-emission tomography/computed tomography (PET/CT) has improved cyst infection (CI) management in autosomal dominant polycystic kidney disease (ADPKD). The determinants of kidney and/or liver involvement, however, remain uncertain. In this study, we evaluated clinical and imaging factors associated with CI in kidney (KCI) and liver (LCI) in ADPKD. A retrospective cohort study was performed in hospital-admitted ADPKD patients with suspected CI. Clinical, imaging and surgical data were analyzed. Features of infected cysts were evaluated by PET/CT. Total kidney (TKV) and liver (TLV) volumes were measured by CT-derived multiplanar reconstruction. CI was detected in 18 patients who experienced 24 episodes during an interval of 30 months (LCI in 12, KCI in 10 and concomitant infection in 2). Sensitivities of CT, magnetic resonance imaging and PET/CT were 25.0, 71.4, and 95.0%. Dysuria (P<0.05), positive urine culture (P<0.01), and previous hematuria (P<0.05) were associated with KCI. Weight loss (P<0.01) and increased C-reactive protein levels (P<0.05) were associated with LCI. PET/CT revealed that three or more infected cysts were present in 70% of the episodes. TKV was higher in kidney-affected than in LCI patients (AUC=0.91, P<0.05), with a cut-off of 2502 mL (72.7% sensitivity, 100.0% specificity). TLV was higher in liver-affected than in KCI patients (AUC=0.89, P<0.01) with a cut-off of 2815 mL (80.0% sensitivity, 87.5% specificity). A greater need for invasive procedures was observed in LCI (P<0.01), and the overall mortality was 20.8%. This study supports PET/CT as the most sensitive imaging method for diagnosis of cyst infection, confirms the multifocal nature of most hospital-admitted episodes, and reveals an association of kidney and liver volumes with this complication.

  15. Inhibition of Sodium-GlucoseCotransporter 2 with Dapagliflozin in Han: SPRD Rats with Polycystic Kidney Disease

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    Daniel Rodriguez

    2015-12-01

    Full Text Available Background/Aims: Dapagliflozin (DAPA is a selective inhibitor of the sodium-glucose cotransporter 2 (SGLT2 which induces glucosuria and osmotic diuresis. The therapeutic effect of DAPA in progressing stages of polycystic kidney disease (PKD has not been studied. Methods: We examined the effect of DAPA in the Han: SPRD rat model of PKD. DAPA (10 mg/kg/day or vehicle (VEH was administered orally via gavage to 5 week old male Han: SPRD (Cy/+ or control (+/+ rats (n = 8-9 per group for 5 weeks. Blood and urine were collected at baseline and after 2.5 and 5 weeks of treatment to assess renal function and albuminuria. At the end of the treatment, rats were sacrificed and kidneys were excised for histological analysis. Results: After 5 weeks of treatment, DAPA-treated Cy/+ and +/+ rats exhibited significantly higher glucosuria, water intake and urine output than VEH-treated rats. DAPA-treated Cy/+ rats also exhibited significantly higher clearances for creatinine and BUN and less albuminuria than VEH-treated Cy/+ rats. DAPA treatment for 5 weeks resulted in a significant increase of the kidney weight in Cy/+ rats but no change in cyst growth. The degree of tubular epithelial cell proliferation, macrophage infiltration and interstitial fibrosis was also similar in DAPA-and VEH-treated Cy/+ rats. Conclusion: The induction of glucosuria with the SGLT2-specific inhibitor DAPA was associated with improved renal function and decreased albuminuria, but had no effect on cyst growth in Cy/+ rats. Overall the beneficial effects of DAPA in this PKD model were weaker than the previously described effects of the combined SGLT1/2 inhibitor phlorizin.

  16. De novo post-transplant thrombotic microangiopathy localized only to the graft in autosomal dominant polycystic kidney disease with thrombophilia

    Science.gov (United States)

    Rolla, Davide; Fontana, Iris; Ravetti, Jean Louis; Marsano, Luigina; Bellino, Diego; Panaro, Laura; Ansaldo, Francesca; Mathiasen, Lisa; Storace, Giulia; Trezzi, Matteo

    2015-01-01

    Introduction: Thrombotic microangiopathy (TMA) is a serious complication of renal transplantation and is mostly related to the prothrombotic effect of calcineurin inhibitors (CNIs). A subset of TMA (29%-38%) is localized only to the graft. Case 1: A young woman suffering from autosomal dominant polycystic kidney disease (ADPKD) underwent kidney transplant. After 2 months, she showed slow renal deterioration (serum creatinine from 1.9 to 3.1 mg/dl), without hematological signs of hemolytic-uremic syndrome (HUS); only LDH enzyme transient increase was detected. Renal biopsy showed TMA: temporary withdraw of tacrolimus and plasmapheresis was performed. The renal function recovered (serum creatinine 1.9 mg/dl). From screening for thrombophilia, we found a mutation of the Leiden factor V gene. Case 2: A man affected by ADPKD underwent kidney transplantation, with delay graft function; first biopsy showed acute tubular necrosis, but a second biopsy revealed TMA, while no altered hematological parameters of HUS was detected. We observed only a slight increase of lactate dehydrogenase (LDH) levels. The tacrolimus was halved and plasmapheresis was performed: LDH levels normalized within 10 days and renal function improved (serum creatinine from 9 to 2.9 mg/dl). We found a mutation of the prothrombin gene. Only a renal biopsy clarifies the diagnosis of TMA, but it is necessary to pay attention to light increasing level of LDH. Conclusion: Prothrombotic effect of CNIs and mTOR inhibitor, mutation of genes encoding factor H or I, anticardiolipin antibodies, vascular rejection, cytomegalovirus infection are proposed to trigger TMA; we detected mutations of factor II and Leiden factor V, as facilitating conditions for TMA in patients affected by ADPKD. PMID:26693501

  17. Endothelin 1 gene is not a major modifier of chronic kidney disease advancement among the autosomal dominant polycystic kidney disease patients

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    Annapareddy Shiva Nagendra Reddy

    2016-01-01

    Full Text Available Introduction: Autosomal dominant polycystic kidney disease (ADPKD is characterized by the presence of numerous cysts in the kidney and manifest with various renal and extra-renal complications leading to ESRD. Endothelin may contribute to various renal and extra-renal manifestations pointing to genetic and environmental modifying factors that alter the risk of developing chronic kidney disease (CKD in ADPKD. In the present study we investigated six genes coding for endothelin 1 (EDN1 tagging-single nucleotide polymorphisms (tag-SNPs to unravel the EDN1 gene modifier effect for renal disease progression in ADPKD. Materials and Methods: The tag-SNPs were genotyped using FRET-based KASPar method in 108 ADPKD patients and 119 healthy subjects. Cochran-Armitage trend test was used to determine the association between ADPKD and EDN1 tag-SNPs. Multivariate logistic regression analysis was performed to assess the effect of tag-SNPs on CKD progression. The relationship between different CKD stages and hypertension and their interaction Mantel-Haenszel stratified analysis was performed. Results: All loci are polymorphic and followed Hardy-Weinberg equilibrium. Distribution of EDN1 genotypes and haplotypes in control and ADPKD is not statistically significant. Five SNPs covering 3.4 kb forming single LD block, but the LD was not strong between SNPs. The EDN1 genotypes are not contributing to the CKD advancement among the ADPKD patients. Conclusion: These results suggest that the EDN1 gene is not a major modifier of CKD advancement among ADPKD patients.

  18. Liver transplantation with preservation of the inferior vena cava in case of symptomatic adult polycystic disease.

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    Lerut, Jan; Ciccarelli, Olga; Rutgers, Matthieu; Orlando, Giuseppe; Mathijs, Jules; Danse, Etienne; Goffin, Eric; Gigot, Jean-François; Goffette, Pierre

    2005-05-01

    Adult polycystic liver disease (APLD) is a rare disorder of the liver parenchyma, the treatment of which is still controversial. Conservative surgery may have a significant morbidity and is often ineffective in the long run. Liver replacement may be indicated in case of incapacitating hepatomegaly. Patients (one male, five females) undergoing liver transplantation for symptomatic APLD is presented in this study. The particular nature of this series is the fact that successful transplantation was performed in all cases with preservation of the recipient's inferior vena cava and without use of veno-venous bypass despite massive hepatomegaly and previous extensive liver surgery (in three cases). There was minimal morbidity and no mortality. All patients have excellent quality of life with a median follow-up of 41 months (range: 12-58) as testified by a median Karnofsky score of 90% (range: 80-100%). PMID:15819798

  19. Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis (ARPKD/CHF)

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    Turkbey, Baris; Choyke, Peter L. [National Institutes of Health, Molecular Imaging Program, National Cancer Institute, Bethesda, MD (United States); Ocak, Iclal [National Institutes of Health, Molecular Imaging Program, National Cancer Institute, Bethesda, MD (United States); University of Pittsburgh Medical Center, Department of Radiology, Pittsburgh, PA (United States); Daryanani, Kailash [National Institutes of Health, Clinical Center, Department of Radiology, Bethesda, MD (United States); Font-Montgomery, Esperanza; Lukose, Linda; Bryant, Joy; Tuchman, Maya; Gahl, William A. [National Institutes of Health, National Human Genome Research Institute, Medical Genetics Branch, Bethesda, MD (United States); Mohan, Parvathi [George Washington University, Department of Pediatric Gastroenterology, Washington, DC (United States); Heller, Theo [National Institutes of Health, National Institute of Diabetes and Digestive and Kidney Diseases, Bethesda, MD (United States); Gunay-Aygun, Meral [National Institutes of Health, National Human Genome Research Institute, Medical Genetics Branch, Bethesda, MD (United States); National Institutes of Health, Intramural Program, Office of Rare Diseases, Office of the Directors, Bethesda, MD (United States)

    2009-02-15

    ARPKD/CHF is an inherited disease characterized by non-obstructive fusiform dilatation of the renal collecting ducts leading to enlarged spongiform kidneys and ductal plate malformation of the liver resulting in congenital hepatic fibrosis. ARPKD/CHF has a broad spectrum of clinical presentations involving the kidney and liver. Imaging plays an important role in the diagnosis and follow-up of ARPKD/CHF. Combined use of conventional and high-resolution US with MR cholangiography in ARPKD/CHF patients allows detailed definition of the extent of kidney and hepatobiliary manifestations without requiring ionizing radiation and contrast agents. (orig.)

  20. Nutrition for Early Chronic Kidney Disease in Adults

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    ... Disease Organizations​​ . (PDF, 345 KB)​​​​​ Alternate Language URL Nutrition for Early Chronic Kidney Disease in Adults Page ... choices? Points to Remember Clinical Trials Why is nutrition important for someone with early chronic kidney disease ( ...

  1. Nutrition for Early Chronic Kidney Disease in Adults

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    ... 345 KB)​​​​​ Alternate Language URL Nutrition for Early Chronic Kidney Disease in Adults Page Content On this page: Why ... Why is nutrition important for someone with early chronic kidney disease (CKD)? Controlling blood glucose, also called blood sugar, ...

  2. Opposing effects of inhibitors of Aurora-A and EGFR in Autosomal Dominant Polycystic Kidney Disease (ADPKD

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    Anna S Nikonova

    2015-10-01

    Full Text Available Aurora-A kinase (AURKA overexpression in numerous tumors induces aneuploidy, in part because of cytokinetic defects. Alisertib and other small-molecule inhibitors targeting AURKA are effective in some patients as monotherapies or combination therapies. EGFR pro-proliferative signaling activity is commonly elevated in cancer, and the EGFR inhibitor erlotinib is commonly used as a standard of care agent for cancer. An erlotinib/alisertib combination therapy is currently under assessment in clinical trials, following pre-clinical studies that indicated synergy of these drugs in cancer. We were interested in further exploring the activity of this drug combination. Beyond well-established functions for AURKA in mitotic progression, additional non-mitotic AURKA functions include control of ciliary stability and calcium signaling. Interestingly, alisertib exacerbates the disease phenotype in mouse models for autosomal dominant polycystic kidney disease (ADPKD, a common inherited syndrome induced by aberrant signaling from PKD1 and PKD2, cilia-localized proteins that have calcium channel activity. EGFR is also more active in ADPKD, making erlotinib also of potential interest in this disease setting. In this study, we have explored the interaction of alisertib and erlotinib in an ADPKD model. These experiments indicated erlotinib restrained cystogenesis, opposing alisertib action. Erlotinib also interacted with alisertib to regulate proliferative signaling proteins, albeit in a complicated manner. Results suggest a nuanced role of AURKA signaling in different pathogenic conditions and inform the clinical use of AURKA inhibitors in cancer patients with comorbidities.

  3. Investigation of the clinical value of assessing renal size on computed tomography in autosomal dominant polycystic kidney disease

    International Nuclear Information System (INIS)

    We examined relationship between serum creatinine concentration (Scr) and renal size on CT scans on 32 occasions in 25 patients with autosomal dominant polycystic kidney disease (ADPKD). As a result, a significant correlation was observed when the Scr was less than 5 mg/dl, as shown by the correlation coefficient (r) and P values of 0.803 and 0.0001, respectively. However, these values changed to 0.482 and 0.0093, respectively when 2 cases with Scr 6.2 and 6.4 mg/dl were included, and further changed to 0.005 and 0.9775 when an additional 4 cases with Scr 7.8, 9.9, 11.1 and 20.1 mg/dl were included. Renal size is therefore thought to be a useful parameter of renal function when the Scr is less than 5 mg/dl in ADPKD, but not when the Scr exceeds 6 mg/dl, and is regarded as useless for predicting the time at which dialysis would be required. (author)

  4. Predicted Mutation Strength of Nontruncating PKD1 Mutations Aids Genotype-Phenotype Correlations in Autosomal Dominant Polycystic Kidney Disease.

    Science.gov (United States)

    Heyer, Christina M; Sundsbak, Jamie L; Abebe, Kaleab Z; Chapman, Arlene B; Torres, Vicente E; Grantham, Jared J; Bae, Kyongtae T; Schrier, Robert W; Perrone, Ronald D; Braun, William E; Steinman, Theodore I; Mrug, Michal; Yu, Alan S L; Brosnahan, Godela; Hopp, Katharina; Irazabal, Maria V; Bennett, William M; Flessner, Michael F; Moore, Charity G; Landsittel, Douglas; Harris, Peter C

    2016-09-01

    Autosomal dominant polycystic kidney disease (ADPKD) often results in ESRD but with a highly variable course. Mutations to PKD1 or PKD2 cause ADPKD; both loci have high levels of allelic heterogeneity. We evaluated genotype-phenotype correlations in 1119 patients (945 families) from the HALT Progression of PKD Study and the Consortium of Radiologic Imaging Study of PKD Study. The population was defined as: 77.7% PKD1, 14.7% PKD2, and 7.6% with no mutation detected (NMD). Phenotypic end points were sex, eGFR, height-adjusted total kidney volume (htTKV), and liver cyst volume. Analysis of the eGFR and htTKV measures showed that the PKD1 group had more severe disease than the PKD2 group, whereas the NMD group had a PKD2-like phenotype. In both the PKD1 and PKD2 populations, men had more severe renal disease, but women had larger liver cyst volumes. Compared with nontruncating PKD1 mutations, truncating PKD1 mutations associated with lower eGFR, but the mutation groups were not differentiated by htTKV. PKD1 nontruncating mutations were evaluated for conservation and chemical change and subdivided into strong (mutation strength group 2 [MSG2]) and weak (MSG3) mutation groups. Analysis of eGFR and htTKV measures showed that patients with MSG3 but not MSG2 mutations had significantly milder disease than patients with truncating cases (MSG1), an association especially evident in extreme decile populations. Overall, we have quantified the contribution of genic and PKD1 allelic effects and sex to the ADPKD phenotype. Intrafamilial correlation analysis showed that other factors shared by families influence htTKV, with these additional genetic/environmental factors significantly affecting the ADPKD phenotype. PMID:26823553

  5. Use of Ultra-high Field MRI in Small Rodent Models of Polycystic Kidney Disease for In Vivo Phenotyping and Drug Monitoring.

    Science.gov (United States)

    Irazabal, Maria V; Mishra, Prasanna K; Torres, Vicente E; Macura, Slobodan I

    2015-01-01

    Several in vivo pre-clinical studies in Polycystic Kidney Disease (PKD) utilize orthologous rodent models to identify and study the genetic and molecular mechanisms responsible for the disease, and are very convenient for rapid drug screening and testing of promising therapies. A limiting factor in these studies is often the lack of efficient non-invasive methods for sequentially analyzing the anatomical and functional changes in the kidney. Magnetic resonance imaging (MRI) is the current gold standard imaging technique to follow autosomal dominant polycystic kidney disease (ADPKD) patients, providing excellent soft tissue contrast and anatomic detail and allowing Total Kidney Volume (TKV) measurements.A major advantage of MRI in rodent models of PKD is the possibility for in vivo imaging allowing for longitudinal studies that use the same animal and therefore reducing the total number of animals required. In this manuscript, we will focus on using Ultra-high field (UHF) MRI to non-invasively acquire in vivo images of rodent models for PKD. The main goal of this work is to introduce the use of MRI as a tool for in vivo phenotypical characterization and drug monitoring in rodent models for PKD. PMID:26132821

  6. [AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE: HOW AND WHY SHOULD WE IDENTIFY THE PATIENTS "RAPIDLY PROGRESSING" TO END-STAGE RENAL DISEASE?].

    Science.gov (United States)

    Bodson, A; Meunier, P; Krzesinski, J-M; Jouret, F

    2016-04-01

    Autosomal dominant polycystic kidney disease (ADPKD) is a common inherited disease characterised by the progressive development of multiple and bilateral cysts in kidneys and other organs. Most patients with ADPKD will develop, sooner or later, end-stage renal disease (ESRD). The morbidity and mortality associated with ESRD prompt physicians to identify early ADPKD patients considered as "rapid progressors", who have the greatest risk to rapidly develop ESRD. The rate of progression can be assessed by clinical--especially with the "predicting renal outcome in polycystic kidney disease score" (PROPKD-Score)-, biological (a decline of the glomerular filtration rate (GFR) of 4.4-5.9 ml/min/year and/or the doubling of serum creatinine within a 36-month period), or radiological criteria (total kidney volume (TKV) adjusted for the size > 600 cc/m and/or TKV annual growth rate > 5 %). Nowadays, there is no curative treatment for ADPKD. However, vasopressin-2 receptor antagonists, such as tolvaptan, appear to slow down the growth of renal cysts and the slope of GFR decline. The current management of ADPKD patients is mostly based on correcting the risk factors for progression, i.e. encouraging (over)-hydration, normalizing blood pressure, stimulating smoking cessation. PMID:27295898

  7. Quality of life and body mass index in overweight adult women with polycystic ovary syndrome during a lifestyle modification program

    OpenAIRE

    De Frène, Veerle; Verhofstadt, Lesley; Lammertyn, Jan; STUYVER, ISABELLE; Buysse, Ann; De Sutter, Petra

    2015-01-01

    Objective: To evaluate changes in body mass index (BMI) and health-related quality of life (HRQoL), including an acne parameter, of overweight adult women with polycystic ovary syndrome (PCOS) during a lifestyle modification program. Design: Prospective longitudinal within-patient study. Setting: Department of Reproductive Medicine of the Ghent University Hospital (Belgium). Participants: Thirty-three overweight (BMI >= 25 kg/m(2)) women with PCOS between age 18 and 43 years. ...

  8. Asymmetric dimethylarginine and lipid peroxidation products in early autosomal dominant polycystic kidney disease

    DEFF Research Database (Denmark)

    Wang, Dan; Strandgaard, S.; Borresen, M.L.;

    2008-01-01

    of nitric oxide synthase and the lipid peroxidation product 13-hydroxyoctadecadienoic acid (HODE) as a marker of oxidative stress in patients with early ADPKD. Study Design: Cross-sectional study. Setting & Participants: Patients with early ADPKD (n = 27) and age-matched volunteers (n = 30) from a single...... academic medical center. Factor: Patients with ADPKD versus controls. Outcomes & Measurement: Plasma (P) levels, urinary (U) excretion, and urinary clearance (C) of ADMA and HODE. Because of multiple comparisons, P for significance is considered less than 0.0167. Results: Patients with ADPKD had......-sectional nature of study, and limited number of markers of oxidative stress. Conclusions: P-ADMA and P-HODE levels are increased in patients with early ADPKD. Increased P-ADMA level is related to decreased CADMA and is accompanied by oxidative stress. Am J Kidney Dis 51:184-191. (c) 2008 by the National Kidney...

  9. Congenital hepatic fibrosis in the Franches-Montagnes horse is associated with the polycystic kidney and hepatic disease 1 (PKHD1 gene.

    Directory of Open Access Journals (Sweden)

    Michaela Drögemüller

    Full Text Available Congenital hepatic fibrosis has been described as a lethal disease with monogenic autosomal recessive inheritance in the Swiss Franches-Montagnes horse breed. We performed a genome-wide association study with 5 cases and 12 controls and detected an association on chromosome 20. Subsequent homozygosity mapping defined a critical interval of 952 kb harboring 10 annotated genes and loci including the polycystic kidney and hepatic disease 1 (autosomal recessive gene (PKHD1. PKHD1 represents an excellent functional candidate as variants in this gene were identified in human patients with autosomal recessive polycystic kidney and hepatic disease (ARPKD as well as several mouse and rat mutants. Whereas most pathogenic PKHD1 variants lead to polycystic defects in kidney and liver, a small subset of the human ARPKD patients have only liver symptoms, similar to our horses with congenital hepatic fibrosis. The PKHD1 gene is one of the largest genes in the genome with multiple alternative transcripts that have not yet been fully characterized. We sequenced the genomes of an affected foal and 46 control horses to establish a comprehensive list of variants in the critical interval. We identified two missense variants in the PKHD1 gene which were strongly, but not perfectly associated with congenital hepatic fibrosis. We speculate that reduced penetrance and/or potential epistatic interactions with hypothetical modifier genes may explain the imperfect association of the detected PKHD1 variants. Our data thus indicate that horses with congenital hepatic fibrosis represent an interesting large animal model for the liver-restricted subtype of human ARPKD.

  10. Changes in causes of death and risk of cancer in Danish patients with autosomal dominant polycystic kidney didease and end-stage renal disease

    DEFF Research Database (Denmark)

    Ørskov, Bjarne; Feldt-Rasmussen, Bo Friis; Strandgaard, Svend Valdemar;

    2012-01-01

    Abstract Background. With the improved prognosis in patients with autosomal dominant polycystic kidney disease (ADPKD), causes of death and the risk of cancer might have changed. This was investigated in a Danish population with ADPKD and end-stage renal disease (ESRD) between 1 January 1993 and 31...... December 2008. Methods. Data were retrieved from three Danish national registries and a total of 823 patients were identified of which 431 had died during the study period. The 16 years were divided into two 8-year periods and the causes of death were divided into six categories: cancer, cardiovascular...

  11. Somatotroph Pituitary Adenoma with Acromegaly and Autosomal Dominant Polycystic Kidney Disease – SSTR5 polymorphism and PKD1 mutation

    Science.gov (United States)

    Syro, Luis V.; Sundsbak, Jamie L.; Scheithauer, Bernd W.; Toledo, Rodrigo A.; Camargo, Mauricio; Heyer, Christina M.; Sekiya, Tomoko; Uribe, Humberto; Escobar, Jorge I.; Vasquez, Martin; Rotondo, Fabio; Toledo, Sergio P. A.; Kovacs, Kalman; Horvath, Eva; Babovic-Vuksanovic, Dusica; Harris, Peter C.

    2014-01-01

    A 39-year-old woman with autosomal dominant polycystic kidney disease (ADPKD) presented with acromegaly and a pituitary macroadenoma. There was a family history of this renal disorder. She had undergone surgery for pituitary adenoma 6 years prior. Physical examination disclosed bitemporal hemianopsia and elevation of both basal growth hormone (GH) 106 ng/mL (normal 0–5) and insulin-like growth factor (IGF-1) 811 ng/mL (normal 48–255) blood levels. A magnetic resonance imaging scan disclosed a 3.0 cm sellar and suprasellar mass with both optic chiasm compression and left cavernous sinus invasion. Histologic, immunohistochemical and ultrastructural studies of the lesion disclosed a sparsely granulated somatotroph adenoma. Standard chromosome analysis on the blood sample showed no abnormality. Sequence analysis of the coding regions of PKD1 and PKD2 employing DNA from both peripheral leukocytes and the tumor revealed the most common PKD1 mutation, 5014_5015delAG. Analysis of the entire SSTR5 gene disclosed the variant c.143C>A (p.L48M, rs4988483) change in the heterozygous state in both blood and tumor, while no pathogenic mutations were noted in the MEN1, AIP, p27Kip1 and SSTR2 genes. To our knowledge, this is the fourth reported case of a GH-producing pituitary adenoma associated with ADPKD, but the first subject to extensive morphological, ultrastructural, cytogenetic and molecular studies. The question arises whether the physical proximity of the PKD1 and SSTR5 genes on chromosome 16 indicates a causal relationship between ADPKD and the somatotroph adenoma. PMID:21744088

  12. Genetic diagnosis of autosomal dominant polycystic kidney disease by targeted capture and next-generation sequencing: utility and limitations.

    Science.gov (United States)

    Qi, Xiao-Ping; Du, Zhen-Fang; Ma, Ju-Ming; Chen, Xiao-Ling; Zhang, Qing; Fei, Jun; Wei, Xiao-Ming; Chen, Dong; Ke, Hai-Ping; Liu, Xuan-Zhu; Li, Feng; Chen, Zhen-Guang; Su, Zheng; Jin, Hang-Yang; Liu, Wen-Ting; Zhao, Yan; Jiang, Hu-Ling; Lan, Zhang-Zhang; Li, Peng-Fei; Fang, Ming-Yan; Dong, Wei; Zhang, Xian-Ning

    2013-03-01

    Mutation-based molecular diagnostics of autosomal dominant polycystic kidney disease (ADPKD) is complicated by genetic and allelic heterogeneity, large multi-exon genes, and duplication sequences of PKD1. Recently, targeted resequencing by pooling long-range polymerase chain reaction (LR-PCR) amplicons has been used in the identification of mutations in ADPKD. Despite its high sensitivity, specificity and accuracy, LR-PCR is still complicated. We performed whole-exome sequencing on two unrelated typical Chinese ADPKD probands and evaluated the effectiveness of this approach compared with Sanger sequencing. Meanwhile, we performed targeted gene and next-generation sequencing (targeted DNA-HiSeq) on 8 individuals (1 patient from one family, 5 patients and 2 normal individuals from another family). Both whole-exome sequencing and targeted DNA-HiSeq confirmed c.11364delC (p.H3788QfsX37) within the unduplicated region of PKD1 in one proband; in the other family, targeted DNA-HiSeq identified a small insertion, c.401_402insG (p.V134VfsX79), in PKD2. These methods do not overcome the screening complexity of homology. However, the true positives of variants confirmed by targeted gene and next-generation sequencing were 69.4%, 50% and 100% without a false positive in the whole coding region and the duplicated and unduplicated regions, which indicated that the screening accuracy of PKD1 and PKD2 can be largely improved by using a greater sequencing depth and elaborate design of the capture probe.

  13. Heightened epithelial Na+ channel-mediated Na+ absorption in a murine polycystic kidney disease model epithelium lacking apical monocilia.

    Science.gov (United States)

    Olteanu, Dragos; Yoder, Bradley K; Liu, Wen; Croyle, Mandy J; Welty, Elisabeth A; Rosborough, Kelley; Wyss, J Michael; Bell, P Darwin; Guay-Woodford, Lisa M; Bevensee, Mark O; Satlin, Lisa M; Schwiebert, Erik M

    2006-04-01

    The Tg737 degrees (rpk) autosomal recessive polycystic kidney disease (ARPKD) mouse carries a hypomorphic mutation in the Tg737 gene. Because of the absence of its protein product Polaris, the nonmotile primary monocilium central to the luminal membrane of ductal epithelia, such as the cortical collecting duct (CCD) principal cell (PC), is malformed. Although the functions of the renal monocilium remain elusive, primary monocilia or flagella on neurons act as sensory organelles. Thus we hypothesized that the PC monocilium functions as a cellular sensor. To test this hypothesis, we assessed the contribution of Polaris and cilium structure and function to renal epithelial ion transport electrophysiology. Properties of Tg737 degrees (rpk) mutant CCD PC clones were compared with clones genetically rescued with wild-type Tg737 cDNA. All cells were grown as polarized cell monolayers with similarly high transepithelial resistance on permeable filter supports. Three- to fourfold elevated transepithelial voltage (V(te)) and short-circuit current (I(sc)) were measured in mutant orpk monolayers vs. rescued controls. Pharmacological and cell biological examination of this enhanced electrical end point in mutant monolayers revealed that epithelial Na(+) channels (ENaCs) were upregulated. Amiloride, ENaC-selective amiloride analogs (benzamil and phenamil), and protease inhibitors (aprotinin and leupeptin) attenuated heightened V(te) and I(sc). Higher concentrations of additional amiloride analogs (ethylisopropylamiloride and dimethylamiloride) also revealed inhibition of V(te). Cell culture requirements and manipulations were also consistent with heightened ENaC expression and function. Together, these data suggest that ENaC expression and/or function are upregulated in the luminal membrane of mutant, cilium-deficient orpk CCD PC monolayers vs. cilium-competent controls. When the genetic lesion causes loss or malformation of the monocilium, ENaC-driven Na(+) hyperabsorption may

  14. Chronic kidney disease in an adult with propionic acidemia.

    Science.gov (United States)

    Vernon, H J; Bagnasco, S; Hamosh, A; Sperati, C J

    2014-01-01

    We report an adult male with classic propionic acidemia (PA) who developed chronic kidney disease in the third decade of his life. This diagnosis was recognized by an increasing serum creatinine and confirmed by reduced glomerular filtration on a (99m)Tc-diethylenetriamine pentaacetate (DTPA) scan. Histopathology of the kidney showed moderate glomerulo- and tubulointerstitial fibrosis with very segmental mesangial IgA deposits. This is the second reported case of kidney disease in an individual with propionic acidemia possibly indicating that chronic kidney disease may be a late-stage complication of propionic acidemia. Additionally, this is the first description of the histopathology of kidney disease in an individual with propionic acidemia. As more cases emerge, the clinical course and spectrum of renal pathology in this disorder will be better defined.

  15. Clinical Scenarios in Chronic Kidney Disease: Cystic Renal Diseases.

    Science.gov (United States)

    Meola, Mario; Samoni, Sara; Petrucci, Ilaria

    2016-01-01

    Cysts are frequently found in chronic kidney disease (CKD) and they have a different prognostic significance depending on the clinical context. Simple solitary parenchymal cysts and peripelvic cysts are very common and they have no clinical significance. At US, simple cyst appears as a round anechoic pouch with regular and thin profiles. On the other hand, hereditary polycystic disease is a frequent cause of CKD in children and adults. Autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive polycystic kidney disease (ARPKD) are the best known cystic hereditary diseases. ADPKD and ARPKD show a diffused cystic degeneration with cysts of different diameters derived from tubular epithelium. Medullary cystic disease may be associated with tubular defects, acidosis and lithiasis and can lead to CKD. Acquired cystic kidney disease, finally, is secondary to progressive structural end-stage kidney remodelling and may be associated with renal cell carcinoma. PMID:27169740

  16. 多囊肾尿毒症患者肾移植时同期切除多囊肾的临床分析%The clinical analysis about surgical excision of polycystic kidney during kidney transplantation in uremic patients

    Institute of Scientific and Technical Information of China (English)

    郑建明; 冯钢; 付迎欣; 莫春柏; 王智平; 宋文利

    2009-01-01

    Objective To investigate the merit and demerit for surgical excision of polycystic kidney at the same time of kidney transplantation and to analyze its effect on complications and prognosis.Methods The data of 63 cases of polycystic kidney were retrospectively analyzed.Among the 63 recipients,43 recipients were combined with polycystic liver,and 2 with pancreatic cyst.For the large size of polycystic kidney,in 31 patients with hematuria or urinary tract infection,the polycystic kidney was resected during kidney transplantation(kidney-cut group,31 cases).The polycystic kidneys in The remaining 32 cases were preserved during kidney transplantation (reservation group).All the recipients were treated with CsA(Tacrolimus),mycophenolate mofetil (MMF)and prednisone after transplantation.The general conditions of recipients,the occurrence of delayed graft function(DGF),acute graft rejection.operative complications and infection,and survival rate of recipients and grafts were observed.Results Operative time in kidney-cut group was (300±31)min,and perirenal drainage tube duration was(4.6±1.4)days in kidney-cut group,significantly longer than in reservation group(both P<0.01).Volume of red blood cells transfusion in kidney-cut group was(4.31±1.05)U,significantly more than reservation group(P<0.01).29.0%(9/31)recipients in kidney-cut group had surgical complications,significantly higher than reservation group(6.2 0A,2/32)(P<0.05).The ineidence of urinary tract irdection was 31.2% (10/32)in reservation group,significantly higher than in kidney-cut group(6.5%,2/31,P<0.05).12.5%(4/32)patients in reservation group needed surgical excision of polycystic kidney after kidney transplantation due to polycystic kidney infection.In 24 recipients with preoperative high blood pressure in each group,the blood pressure of 8 recipients(33.3%)in kidney-cut group returned to normal,compared with only 2 recipients(8.3%)in reservation group(P<0.05).The incidence of DGF,incidence of

  17. Dissection of the Adult Zebrafish Kidney

    OpenAIRE

    Gerlach, Gary F.; Schrader, Lauran N.; Wingert, Rebecca A

    2011-01-01

    Researchers working in the burgeoning field of adult stem cell biology seek to understand the signals that regulate the behavior and function of stem cells during normal homeostasis and disease states. The understanding of adult stem cells has broad reaching implications for the future of regenerative medicine1. For example, better knowledge about adult stem cell biology can facilitate the design of therapeutic strategies in which organs are triggered to heal themselves or even the creation o...

  18. Pediatric versus adult kidney transplantation activity in Arab countries

    Directory of Open Access Journals (Sweden)

    Bassam Saeed

    2013-01-01

    Full Text Available The objective of this study was to evaluate the current activity of pediatric versus adult kidney transplantation activity in the Arab world. A questionnaire was mailed to all kidney transplant centers in Arab countries to collect data on the kidney transplant activity in a recent single year. Three thousand three hundred and nine kidney transplants were performed in one year, with a transplant rate of 9.5 per million populations (PMP; 298 were performed for children with a pediatric kidney transplant (PKT rate of 0.87 PMP, which is much lower than that of developed countries where it mostly ranges from 5 to 10. The pediatric share of all transplants is 9%, which is twice as high as that of European children. Kidney transplant programs in most Arab countries rely exclusively on living donors as there is a severe shortage of deceased donors. 93.5% of all transplants, combined adult and pediatric, were from living donors. Deceased transplant activity in Arab countries accounts for 14-31% of all transplants in the three countries with deceased donor programs. Of the 212 adult and pediatric transplants that were performed from deceased donors in eight countries, only 29 cases were for pediatric recipients. Deceased PKT is available in the Kingdom of Saudi Arabia (KSA, Tunisia and Kuwait. Surprisingly, the PKT share was not better in the countries with higher overall kidney transplant rate and or in those where deceased transplant was available. PKT is still inactive in most Arab countries and mostly relies on living donors. The lack of well-developed deceased donor programs is the main issue to be addressed.

  19. Col2-Cre recombinase is co-expressed with endogenous type II collagen in embryonic renal epithelium and drives development of polycystic kidney disease following inactivation of ciliary genes

    OpenAIRE

    Kolpakova-Hart, Elona; Nicolae, Claudia; Zhou, Jing; Olsen, Bjorn R

    2008-01-01

    Here we report on the severe defects in renal epithelium induced by the transgenic Col2-Cre line used previously for skeletal tissue-specific gene targeting. We demonstrate that conditional ablation of the Kif3a or Pkd1 genes encoding primary cilium/intraflagellar transport-associated proteins using type II collagen-specific Cre transgenic strain results in a severe form of polycystic kidney disease in mice. We detect Col2-Cre recombinase expression in kidney epithelium, which reflects expres...

  20. Characteristics of Intracranial Aneurysms in the Else Kröner-Fresenius Registry of Autosomal Dominant Polycystic Kidney Disease

    Directory of Open Access Journals (Sweden)

    Hartmut P.H. Neumann

    2012-10-01

    Full Text Available Background: Patients who harbor intracranial aneurysms (IAs run a risk for aneurysm rupture and subsequent subarachnoid hemorrhage which frequently results in permanent deficits or death. Prophylactic treatment of unruptured aneurysms is possible and recommended depending on the size and location of the aneurysm as well as patient age and condition. IAs are major manifestations of autosomal dominant polycystic kidney disease (ADPKD. Current guidelines do not suggest surveillance of IAs in ADPKD except in the setting of family history if IA was known in any relative with ADPKD. Management of IAs in ADPKD is problematic because limited data exist from large studies. Methods: We established the Else Kröner-Fresenius Registry for ADPKD in Germany. Clinical data were assessed for age at diagnosis of IAs, stage of renal insufficiency, and number, location and size of IAs as well as family history of cerebral events. Patients with symptomatic or asymptomatic IAs were included. All patients with ADPKD-related IAs were offered mutation scanning of the susceptibility genes for ADPKD, the PKD1 and PKD2 genes. Results: Of 463 eligible ADPKD patients from the population base of Germany, 32 (7% were found to have IAs, diagnosed at the age of 2–71 years, 19 females and 13 males. Twenty (63% of these 32 patients were symptomatic, whereas IAs were detected in an asymptomatic stage in 12 patients. IAs were multifocal in 12 and unifocal in 20 patients. In 26 patients (81%, IAs were diagnosed before end-stage renal failure. Twenty-five out of 27 unrelated index cases (93% had no IAs or cerebral events documented in their relatives with ADPKD. In 16 unrelated index patients and 3 relatives, we detected germline mutations. The mutations were randomly distributed across the PKD1 gene in 14 and the PKD2 gene in 2 index cases. Questionnaires answered for 320/441 ADPKD patients without IAs revealed that only 45/320 (14% had MR angiography. Conclusion: In ADPKD

  1. Diagnostic Algorithm in the Management of Acute Febrile Abdomen in Patients with Autosomal Dominant Polycystic Kidney Disease

    Science.gov (United States)

    Neuville, Marie; Hustinx, Roland; Jacques, Jessica; Krzesinski, Jean-Marie

    2016-01-01

    Background Acute febrile abdomen represents a diagnostic challenge in patients with autosomal dominant polycystic kidney disease (ADPKD). Although criteria have been proposed for cyst infection (CyI) and hemorrhage (CyH), there is a lack of comparative assessments. Furthermore, distinguishing cystic from non-cystic complications remains problematic. Design ADPKD patients presenting with abdominal pain and/or fever between 01/2005 and 06/2015 were retrospectively identified in a systematic computerized billing database. CyH was defined as spontaneous intracystic density above 50 Hounsfield units on computed tomography (CT). CyI was definite if confirmed by cyst puncture, and probable if 4 criteria were met: 3-day fever, loin/liver tenderness, C-reactive protein (CRP) plasma levels >50mg/L and no CT evidence for CyH. Other episodes were grouped as inflammation of unknown origin (IUO). Results Among a cohort of 173 ADPKD patients, 101 presented with 205 episodes of abdominal pain (n = 172) and/or fever (n = 33). 20 patients experienced 30 CyH, whereas 16 presented 23 episodes of definite (n = 11) or probable (n = 12) CyI. 35 IUO were observed in 31 patients. Clinically, fever was observed in 7% vs. 100% vs. 66% of CyH, CyI and IUO, respectively. Biologically, CRP cut-off at 70 mg/dl showed 92% sensitivity and 81% specificity in CyI diagnosis. Urine or blood cultures remained sterile in >90% of CyH, but were contributive in 53.4% of CyI and IUO, with a 74.2% prevalence for E. coli. Radiologically, ultrasounds, CT and magnetic resonance diagnosed CyI in 2.6%, 20% and 16.7% of cases, respectively. 18F-FDG positron-emission tomography (PET)/CT was done within a median period of 7 days post antibiotics, and significantly changed patient management in 71.4%. Conclusions This retrospective single-center series underscores the usefulness of clinical–fever–and biological–CRP–parameters, but emphasizes the limitations of bacteriological and radiological investigations

  2. Differences in the timing and magnitude of Pkd1 gene deletion determine the severity of polycystic kidney disease in an orthologous mouse model of ADPKD.

    Science.gov (United States)

    Rogers, Kelly A; Moreno, Sarah E; Smith, Laurie A; Husson, Hervé; Bukanov, Nikolay O; Ledbetter, Steven R; Budman, Yeva; Lu, Yuefeng; Wang, Bing; Ibraghimov-Beskrovnaya, Oxana; Natoli, Thomas A

    2016-06-01

    Development of a disease-modifying therapy to treat autosomal dominant polycystic kidney disease (ADPKD) requires well-characterized preclinical models that accurately reflect the pathology and biochemical changes associated with the disease. Using a Pkd1 conditional knockout mouse, we demonstrate that subtly altering the timing and extent of Pkd1 deletion can have a significant impact on the origin and severity of kidney cyst formation. Pkd1 deletion on postnatal day 1 or 2 results in cysts arising from both the cortical and medullary regions, whereas deletion on postnatal days 3-8 results in primarily medullary cyst formation. Altering the extent of Pkd1 deletion by modulating the tamoxifen dose produces dose-dependent changes in the severity, but not origin, of cystogenesis. Limited Pkd1 deletion produces progressive kidney cystogenesis, accompanied by interstitial fibrosis and loss of kidney function. Cyst growth occurs in two phases: an early, rapid growth phase, followed by a later, slow growth period. Analysis of biochemical pathway changes in cystic kidneys reveals dysregulation of the cell cycle, increased proliferation and apoptosis, activation of Mek-Erk, Akt-mTOR, and Wnt-β-catenin signaling pathways, and altered glycosphingolipid metabolism that resemble the biochemical changes occurring in human ADPKD kidneys. These pathways are normally active in neonatal mouse kidneys until repressed around 3 weeks of age; however, they remain active following Pkd1 deletion. Together, this work describes the key parameters to accurately model the pathological and biochemical changes associated with ADPKD in a conditional mouse model. PMID:27356569

  3. Lack of Benefit of Early Intervention with Dietary Flax and Fish Oil and Soy Protein in Orthologous Rodent Models of Human Hereditary Polycystic Kidney Disease

    Science.gov (United States)

    Monirujjaman, Md; Gabbs, Melissa

    2016-01-01

    Rationale for dietary advice in polycystic kidney disease (PKD) is based in part on animal studies that have examined non-orthologous models with progressive development of cystic disease. Since no model completely mimics human PKD, the purpose of the current studies was to examine the effects of dietary soy protein (compared to casein) or oils enriched in omega-3 fatty acids (fish or flax oil compared to soy oil) on early disease progression in two orthologous models of PKD. The models studied were Pkd2WS25/- mice as a model of autosomal dominant PKD, and PCK rats as a model of autosomal recessive PKD. After 13 weeks of feeding, dietary fish (but not flax) oil resulted in larger kidneys and greater kidney water content in female Pkd2WS25/- compared to control mice. After 12 weeks of feeding male PCK compared to control rats, both fish and flax compared to soy oil resulted in enlarged kidneys and livers, greater kidney water content and higher kidney cyst area in diseased rats. Dietary soy protein compared to casein had no effects in Pkd2WS25/- compared to control mice. In PCK rats, kidney and liver histology were not improved, but lower proteinuria and higher urine pH suggest that soy protein could be beneficial in the long term. Therefore, in contrast to studies in non-orthologous models during the progressive development phase, these studies in orthologous PKD models do not support dietary advice to increase soy protein or oils enriched in omega-3 oils in early PKD. PMID:27213553

  4. Everolimus does not further reduce polycystic liver volume when added to long acting octreotide: Results from a randomized controlled trial

    NARCIS (Netherlands)

    Chrispijn, M.; Gevers, T.J.G.; Hol, J.C.; Monshouwer, R.; Dekker, H.M.; Drenth, J.P.H.

    2013-01-01

    BACKGROUND & AIMS: Polycystic liver disease (PLD) is associated with autosomal dominant polycystic kidney disease (ADPKD) or autosomal dominant polycystic liver disease (PCLD). The resulting hepatomegaly compromises quality of life. Somatostatin analogues reduce PLD volume by approximately 5% when g

  5. Intermediate volume on computed tomography imaging defines a fibrotic compartment that predicts glomerular filtration rate decline in autosomal dominant polycystic kidney disease patients.

    Science.gov (United States)

    Caroli, Anna; Antiga, Luca; Conti, Sara; Sonzogni, Aurelio; Fasolini, Giorgio; Ondei, Patrizia; Perico, Norberto; Remuzzi, Giuseppe; Remuzzi, Andrea

    2011-08-01

    Total kidney and cyst volumes have been used to quantify disease progression in autosomal dominant polycystic kidney disease (ADPKD), but a causal relationship with progression to renal failure has not been demonstrated. Advanced image processing recently allowed to quantify extracystic tissue, and to identify an additional tissue component named "intermediate," appearing hypoenhanced on contrast-enhanced computed tomography (CT). The aim of this study is to provide a histological characterization of intermediate volume, investigate its relation with renal function, and provide preliminary evidence of its role in long-term prediction of functional loss. Three ADPKD patients underwent contrast-enhanced CT scans before nephrectomy. Histological samples of intermediate volume were drawn from the excised kidneys, and stained with hematoxylin and eosin and with saturated picrosirius solution for histological analysis. Intermediate volume showed major structural changes, characterized by tubular dilation and atrophy, microcysts, inflammatory cell infiltrate, vascular sclerosis, and extended peritubular interstitial fibrosis. A significant correlation (r = -0.69, P < 0.001) between relative intermediate volume and baseline renal function was found in 21 ADPKD patients. Long-term prediction of renal functional loss was investigated in an independent cohort of 13 ADPKD patients, followed for 3 to 8 years. Intermediate volume, but not total kidney or cyst volume, significantly correlated with glomerular filtration rate decline (r = -0.79, P < 0.005). These findings suggest that intermediate volume may represent a suitable surrogate marker of ADPKD progression and a novel therapeutic target.

  6. Cyst number but not the rate of cystic growth is associated with the mutated gene in autosomal dominant polycystic kidney disease.

    Science.gov (United States)

    Harris, Peter C; Bae, Kyongtae T; Rossetti, Sandro; Torres, Vicente E; Grantham, Jared J; Chapman, Arlene B; Guay-Woodford, Lisa M; King, Bernard F; Wetzel, Louis H; Baumgarten, Deborah A; Kenney, Philip J; Consugar, Mark; Klahr, Saulo; Bennett, William M; Meyers, Catherine M; Zhang, Qin Jean; Thompson, Paul A; Zhu, Fang; Miller, J Philip

    2006-11-01

    Data from serial renal magnetic resonance imaging of the Consortium of Radiologic Imaging Study of PKD (CRISP) autosomal dominant polycystic kidney disease (PKD) population showed that cystic expansion occurs at a consistent rate per individual, although it is heterogeneous in the population, and that larger kidneys are associated with more rapid disease progression. The significance of gene type to disease progression is analyzed in this study of the CRISP cohort. Gene type was determined in 183 families (219 cases); 156 (85.2%) had PKD1, and 27 (14.8%) had PKD2. PKD1 kidneys were significantly larger, but the rate of cystic growth (PKD1 5.68%/yr; PKD2 4.82%/yr) was not different (P = 0.24). Cyst number increased with age, and more cysts were detected in PKD1 kidneys (P cysts develop earlier, not because they grow faster, implicating the disease gene in cyst initiation but not expansion. These insights will inform the development of targeted therapies in autosomal dominant PKD. PMID:17035604

  7. Hypertension after bilateral kidney irradiation in young and adult rats

    Energy Technology Data Exchange (ETDEWEB)

    Jongejan, H.T.; van der Kogel, A.J.; Provoost, A.P.; Molenaar, J.C.

    1987-09-01

    The mechanism of a rise in blood pressure after kidney irradiation is unclear but most likely of renal origin. We have investigated the role of the renin-angiotensin system and dietary salt restriction in the development of systolic hypertension after bilateral kidney irradiation in young and adult rats. Three to 12 months after a single X-ray dose of 7.5 or 12.5 Gy to both kidneys of young and adult rats, the systolic blood pressure (SBP) and plasma renin concentration (PRC) were measured regularly. A single X-ray dose of 12.5 Gy caused a moderate rise in SBP and a slight reduction in PRC in both young and adult rats. A dose of 7.5 Gy did not significantly alter the SBP or PRC during the follow-up period of 1 year. In a second experiment, the kidneys of young rats received an X-ray dose of 20 Gy. Subsequently, rats were kept on a standard diet (110 mmol sodium/kg) or a sodium-poor diet (10 mmol sodium/kg). On both diets, SBP started to rise rapidly 3 months after kidney irradiation. Sodium balance studies carried out at that time revealed an increased sodium retention in the irradiated rats compared to controls on the same diet. In rats on a low sodium intake, there was neither a delay nor an alleviation in the development of hypertension. Compared to controls, the PRC tended to be lower in irradiated rats up to 4 months after irradiation. Subsequently, malignant hypertension developed in all 20 Gy rats, resulting in pressure natriuresis, stimulating the renin-angiotensin system. Our findings indicated that hypertension after bilateral kidney irradiation was not primarily the result of an activation of the renin-angiotensin system. Although there were some indications that sodium retention played a role, dietary sodium restriction did not influence the development of hypertension.

  8. Polycystic Kidney Disease

    Science.gov (United States)

    ... cysts abnormal heart valves diverticula brain aneurysms A health care provider diagnoses autosomal dominant PKD using imaging tests and genetic testing. A radiologist—a doctor who specializes in medical imaging—will ...

  9. Network analysis of a Pkd1-mouse model of autosomal dominant polycystic kidney disease identifies HNF4α as a disease modifier.

    Directory of Open Access Journals (Sweden)

    Luis F Menezes

    Full Text Available Autosomal Dominant Polycystic Kidney Disease (ADPKD; MIM ID's 173900, 601313, 613095 leads to end-stage kidney disease, caused by mutations in PKD1 or PKD2. Inactivation of Pkd1 before or after P13 in mice results in distinct early- or late-onset disease. Using a mouse model of ADPKD carrying floxed Pkd1 alleles and an inducible Cre recombinase, we intensively analyzed the relationship between renal maturation and cyst formation by applying transcriptomics and metabolomics to follow disease progression in a large number of animals induced before P10. Weighted gene co-expression network analysis suggests that Pkd1-cystogenesis does not cause developmental arrest and occurs in the context of gene networks similar to those that regulate/maintain normal kidney morphology/function. Knowledge-based Ingenuity Pathway Analysis (IPA software identifies HNF4α as a likely network node. These results are further supported by a meta-analysis of 1,114 published gene expression arrays in Pkd1 wild-type tissues. These analyses also predict that metabolic pathways are key elements in postnatal kidney maturation and early steps of cyst formation. Consistent with these findings, urinary metabolomic studies show that Pkd1 cystic mutants have a distinct profile of excreted metabolites, with pathway analysis suggesting altered activity in several metabolic pathways. To evaluate their role in disease, metabolic networks were perturbed by inactivating Hnf4α and Pkd1. The Pkd1/Hnf4α double mutants have significantly more cystic kidneys, thus indicating that metabolic pathways could play a role in Pkd1-cystogenesis.

  10. Deciphering Variability of PKD1 and PKD2 in an Italian Cohort of 643 Patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD).

    Science.gov (United States)

    Carrera, Paola; Calzavara, Silvia; Magistroni, Riccardo; den Dunnen, Johan T; Rigo, Francesca; Stenirri, Stefania; Testa, Francesca; Messa, Piergiorgio; Cerutti, Roberta; Scolari, Francesco; Izzi, Claudia; Edefonti, Alberto; Negrisolo, Susanna; Benetti, Elisa; Alibrandi, Maria Teresa Sciarrone; Manunta, Paolo; Boletta, Alessandra; Ferrari, Maurizio

    2016-01-01

    Autosomal Dominant Polycystic Kidney Disease (ADPKD) is the most common hereditary kidney disease. We analysed PKD1 and PKD2, in a large cohort of 440 unrelated Italian patients with ADPKD and 203 relatives by direct sequencing and MLPA. Molecular and detailed phenotypic data have been collected and submitted to the PKD1/PKD2 LOVD database. This is the first large retrospective study in Italian patients, describing 701 variants, 249 (35.5%) already associated with ADPKD and 452 (64.5%) novel. According to the criteria adopted, the overall detection rate was 80% (352/440). Novel variants with uncertain significance were found in 14% of patients. Among patients with pathogenic variants, in 301 (85.5%) the disease is associated with PKD1, 196 (55.7%) truncating, 81 (23%) non truncating, 24 (6.8%) IF indels, and in 51 (14.5%) with PKD2. Our results outline the high allelic heterogeneity of variants, complicated by the presence of variants of uncertain significance as well as of multiple variants in the same subject. Classification of novel variants may be particularly cumbersome having an important impact on the genetic counselling. Our study confirms the importance to improve the assessment of variant pathogenicity for ADPKD; to this point databasing of both clinical and molecular data is crucial. PMID:27499327

  11. 1例多囊肝多囊肾合并脑出血患者的药学监护%Pharmaceutical care on a patient with cerebral hemorrhage with polycystic liver and polycystic kidney disease

    Institute of Scientific and Technical Information of China (English)

    石秀锦; 魏国义

    2012-01-01

    One 76-year-old male patient with cerebral hemorrhage, polycystic liver and polycystic kidney, pulmonary infection and hypertension was hospitalized. The patient was given empirical anti-infection treatment with cefepime for pulmonary infection. Considering the renal insufficiency and susceptibility culture results of the patient, clinical pharmacists proposed to treat with fusidic sodium, vancomycin and cefoperazone/sulbactam. Fat overload syndrome induced by intralipid was analyzed, and clinical pharmacist recommended to withdraw the intralipid intravenous infusion and switch to glucose injection to supply of energy. In addition, the elderly patient with renal hypertension, the selection of antihypertensive drugs was discussed, and captopril, telmisartan and sodium nitroprusside should be changed to fosinopril sodium, amlodipine besylate and furosemide. After the rational optimization of the treatment, the pulmonary infection was controlled timely and effectively and the blood pressure was controlled stably. The symptoms of this patient improved markedly.%1例76岁男性患者,因多囊肝多囊肾合并脑出血、肺部感染及高血压入院.针对患者肺部感染,医生经验性给予头孢吡肟,结合患者肾功能不全及药敏培养结果,临床药师建议采用夫西地酸钠、万古霉素及头孢哌酮钠/舒巴坦钠联合抗感染;同时,对脂肪乳引起的脂肪超载综合征进行分析,建议停用脂肪乳静脉滴注,改用葡萄糖注射液供给能量;并对患者降压药物的选择进行讨论,建议将卡托普利、替米沙坦、硝普钠改为福辛普利钠、苯磺酸氨氯地平、呋塞米.经合理优化治疗方案后,患者感染得到及时、有效的治疗,血压控制较平稳,病情明显好转.

  12. Polycystic Diseases in Visceral Organs

    Directory of Open Access Journals (Sweden)

    Shakila Abdul-Majeed

    2011-01-01

    Full Text Available Primary cilia are nonmotile, microtubule-based, antenna-like organelles projecting from the apical surface of most mammalian cells. Elegant studies have established the importance of ciliary structure and function in signal transduction and the sensory roles of cilia in maintaining healthy cellular state. In particular, dysfunctional cilia have been implicated in a large number of diseases mainly characterized by the presence of fluid-filled cysts in various organs. Aside from polycystic kidney disease (PKD, however, the roles of cilia in polycystic liver disease (PLD, polycystic pancreas disease (PPD, and polycystic ovarian syndrome (PCOS are still very vague. In addition, although gender and sex hormones are known to regulate cyst formation, their roles in regulating physiological functions of cilia need to be further explored.

  13. Association Between Kidney Dysfunction and Carotid Atherosclerosis in Community-Based Older Adults in China.

    Science.gov (United States)

    Gu, Xiang; Fang, Xianghua; Hua, Yang; Tang, Zhe; Ji, Xunming; Guan, Shaochen; Wu, Xiaoguang; Liu, Hongjun; Liu, Beibei; Wang, Chunxiu; Zhang, Zhongying

    2016-03-01

    We investigated the association between kidney dysfunction and carotid atherosclerosis in community-based older adults. This study consisted of 1257 participants, aged 55 years and older and free of cardiovascular disease. Kidney dysfunction was classified as mild, moderate, and severe (estimated glomerular filtration rate, 45-59, 30-44, and kidney function (P kidney dysfunction was significantly associated with CCA-IMT thickening (CCA-IMT ≥1.0 mm; odds ratio [OR] 1.52; 95% confidence interval [CI] 1.16-1.99) compared to normal kidney function. A significantly increased presence of heterogeneous plaque was observed in relation to decreased kidney function (P for trend = .011), that is, even a mild kidney dysfunction was a potential independent risk factor for heterogeneous plaque (OR 1.43; 95% CI 1.04-1.98). Mild kidney dysfunction may be a predictor of early or accelerated carotid atherosclerosis in older adults.

  14. Feasibility of measuring renal blood flow by phase-contrast magnetic resonance imaging in patients with autosomal dominant polycystic kidney disease

    Energy Technology Data Exchange (ETDEWEB)

    Spithoven, E.M.; Meijer, E.; Boertien, W.E.; Gaillard, C.A.J.M.; Jong, P.E. de; Gansevoort, R.T. [University of Groningen, Department of Nephrology, Community and Occupational Medicine, University Medical Center Groningen, PO Box 30.001, RB Groningen (Netherlands); Borns, C.; Kappert, P.; Greuter, M.J.W.; Jagt, E. van der [University of Groningen, Department of Radiology, Community and Occupational Medicine, University Medical Center Groningen, Groningen (Netherlands); Vart, P. [University of Groningen, Department of Health Sciences, Community and Occupational Medicine, University Medical Center Groningen, Groningen (Netherlands)

    2016-03-15

    Renal blood flow (RBF) has been shown to predict disease progression in autosomal dominant polycystic kidney disease (ADPKD). We investigated the feasibility and accuracy of phase-contrast RBF by MRI (RBF{sub MRI}) in ADPKD patients with a wide range of estimated glomerular filtration rate (eGFR) values. First, we validated RBF{sub MRI} measurement using phantoms simulating renal artery hemodynamics. Thereafter, we investigated in a test-set of 21 patients intra- and inter-observer coefficient of variation of RBF{sub MRI}. After validation, we measured RBF{sub MRI} in a cohort of 91 patients and compared the variability explained by characteristics indicative for disease severity for RBF{sub MRI} and RBF measured by continuous hippuran infusion. The correlation in flow measurement using phantoms by phase-contrast MRI was high and fluid collection was high (CCC=0.969). Technical problems that precluded RBF{sub MRI} measurement occurred predominantly in patients with a lower eGFR (34% vs. 16%). In subjects with higher eGFRs, variability in RBF explained by disease characteristics was similar for RBF{sub MRI} compared to RBF{sub Hip,} whereas in subjects with lower eGFRs, this was significantly less for RBF{sub MRI}. Our study shows that RBF can be measured accurately in ADPKD patients by phase-contrast, but this technique may be less feasible in subjects with a lower eGFR. (orig.)

  15. Refining the localization of the PKD2 locus on chromosome 4q by linkage analysis in Spanish families with autosomal dominant polycystic kidney disease type 2

    Energy Technology Data Exchange (ETDEWEB)

    San Millan, J.L.; Viribay, M.; Peral, B.; Moreno, F. [Unidad de Genetica Molecular, Madrid (Spain); Martinez, I. [Hospital de Galdacano (Spain); Weissenbach, J. [Genethon, Evry (France)

    1995-01-01

    Autosomal dominant polycystic kidney disease (ADPKD) is a genetically heterogeneous disorder. At least two distinct forms of ADPKD are now well defined. In {approximately}86% of affected European families, a gene defect localized to 16p13.3 was responsible for ADPKD, while a second locus has been recently localized to 4q13-q23 as candidate for the disease in the remaining families. We present confirmation of linkage to microsatellite markers on chromosome 4q in eight Spanish families with ADPKD, in which the disease was not linked to 16p13.3. By linkage analysis with marker D4S423, a maximum lod score of 9.03 at a recombination fraction of .00 was obtained. Multipoint linkage analysis, as well as a study of recombinant haplotypes, placed the PKD2 locus between D4S1542 and D4S1563, thereby defining a genetic interval of {approximately}1 cM. The refined map will serve as a genetic framework for additional genetic and physical mapping of the region and will improve the accuracy of presymptomatic diagnosis of PKD2. 25 refs., 4 figs., 1 tab.

  16. Detection of the single nucleotide polymorphism causing feline autosomal-dominant polycystic kidney disease in Persians from the UK using a novel real-time PCR assay.

    Science.gov (United States)

    Helps, Chris R; Tasker, Séverine; Barr, Frances J; Wills, Sheila J; Gruffydd-Jones, Timothy J

    2007-02-01

    Autosomal-dominant polycystic kidney disease (AD-PKD) is the most prevalent inherited genetic disease of cats, particularly affecting Persians. Until recently the condition has been diagnosed by renal ultrasound screening. With the identification of the genetic mutation responsible for AD-PKD it is now possible to use advanced molecular techniques to screen for the disease. We have developed a rapid, sensitive and specific real-time PCR genotyping assay that can detect the single nucleotide polymorphism responsible for AD-PKD. Of 72 UK Persian and Exotic Shorthair cats submitted for AD-PKD ultrasound screening, 29 were found to have the disease, 41 were negative and 2 were equivocal. The recently published PCR-RFLP method showed the AD-PKD mutation to be present in all 29 diseased cats and absent in the 41 negative and 2 equivocal cats. Our real-time PCR genotyping assay was in complete agreement with the PCR-RFLP results. Of 600 blood or buccal swabs analysed from April 2005 to January 2006, 165 were found to be AD-PKD positive and 435 were negative, giving a prevalence of 27.5%. All 194 cats with AD-PKD were found to be heterozygous for the mutation. PMID:16950597

  17. Feasibility of measuring renal blood flow by phase-contrast magnetic resonance imaging in patients with autosomal dominant polycystic kidney disease

    International Nuclear Information System (INIS)

    Renal blood flow (RBF) has been shown to predict disease progression in autosomal dominant polycystic kidney disease (ADPKD). We investigated the feasibility and accuracy of phase-contrast RBF by MRI (RBFMRI) in ADPKD patients with a wide range of estimated glomerular filtration rate (eGFR) values. First, we validated RBFMRI measurement using phantoms simulating renal artery hemodynamics. Thereafter, we investigated in a test-set of 21 patients intra- and inter-observer coefficient of variation of RBFMRI. After validation, we measured RBFMRI in a cohort of 91 patients and compared the variability explained by characteristics indicative for disease severity for RBFMRI and RBF measured by continuous hippuran infusion. The correlation in flow measurement using phantoms by phase-contrast MRI was high and fluid collection was high (CCC=0.969). Technical problems that precluded RBFMRI measurement occurred predominantly in patients with a lower eGFR (34% vs. 16%). In subjects with higher eGFRs, variability in RBF explained by disease characteristics was similar for RBFMRI compared to RBFHip, whereas in subjects with lower eGFRs, this was significantly less for RBFMRI. Our study shows that RBF can be measured accurately in ADPKD patients by phase-contrast, but this technique may be less feasible in subjects with a lower eGFR. (orig.)

  18. Initial evaluation of hepatic T1 relaxation time as an imaging marker of liver disease associated with autosomal recessive polycystic kidney disease (ARPKD).

    Science.gov (United States)

    Gao, Ying; Erokwu, Bernadette O; DeSantis, David A; Croniger, Colleen M; Schur, Rebecca M; Lu, Lan; Mariappuram, Jose; Dell, Katherine M; Flask, Chris A

    2016-01-01

    Autosomal recessive polycystic kidney disease (ARPKD) is a potentially lethal multi-organ disease affecting both the kidneys and the liver. Unfortunately, there are currently no non-invasive methods to monitor liver disease progression in ARPKD patients, limiting the study of potential therapeutic interventions. Herein, we perform an initial investigation of T1 relaxation time as a potential imaging biomarker to quantitatively assess the two primary pathologic hallmarks of ARPKD liver disease: biliary dilatation and periportal fibrosis in the PCK rat model of ARPKD. T1 relaxation time results were obtained for five PCK rats at 3 months of age using a Look-Locker acquisition on a Bruker BioSpec 7.0 T MRI scanner. Six three-month-old Sprague-Dawley (SD) rats were also scanned as controls. All animals were euthanized after the three-month scans for histological and biochemical assessments of bile duct dilatation and hepatic fibrosis for comparison. PCK rats exhibited significantly increased liver T1 values (mean ± standard deviation = 935 ± 39 ms) compared with age-matched SD control rats (847 ± 26 ms, p = 0.01). One PCK rat exhibited severe cholangitis (mean T1  = 1413 ms), which occurs periodically in ARPKD patients. The observed increase in the in vivo liver T1 relaxation time correlated significantly with three histological and biochemical indicators of biliary dilatation and fibrosis: bile duct area percent (R = 0.85, p = 0.002), periportal fibrosis area percent (R = 0.82, p = 0.004), and hydroxyproline content (R = 0.76, p = 0.01). These results suggest that hepatic T1 relaxation time may provide a sensitive and non-invasive imaging biomarker to monitor ARPKD liver disease.

  19. Analysis of data from the ERA-EDTA Registry indicates that conventional treatments for chronic kidney disease do not reduce the need for renal replacement therapy in autosomal dominant polycystic kidney disease.

    Science.gov (United States)

    Spithoven, Edwin M; Kramer, Anneke; Meijer, Esther; Orskov, Bjarne; Wanner, Christoph; Caskey, Fergus; Collart, Frederic; Finne, Patrik; Fogarty, Damian G; Groothoff, Jaap W; Hoitsma, Andries; Nogier, Marie-Béatrice; Postorino, Maurizio; Ravani, Pietro; Zurriaga, Oscar; Jager, Kitty J; Gansevoort, Ron T

    2014-12-01

    Autosomal dominant polycystic kidney disease (ADPKD) is a major cause of end-stage kidney failure, but is often identified early and therefore amenable to timely treatment. Interventions known to postpone the need for renal replacement therapy (RRT) in non-ADPKD patients have also been tested in ADPKD patients, but with inconclusive results. To help resolve this we determined changes in RRT incidence rates as an indicator for increasing effective renoprotection over time in ADPKD. We analyzed data from the European Renal Association-European Dialyses and Transplant Association Registry on 315,444 patients starting RRT in 12 European countries between 1991 and 2010, grouped into four 5-year periods. Of them, 20,596 were due to ADPKD. Between the first and last period the mean age at onset of RRT increased from 56.6 to 58.0 years. The age- and gender-adjusted incidence rate of RRT for ADPKD increased slightly over the four periods from 7.6 to 8.3 per million population. No change over time was found in the incidence of RRT for ADPKD up to age 50, whereas in recent time periods the incidence in patients above the age of 70 clearly increased. Among countries there was a significant positive association between RRT take-on rates for non-ADPKD kidney disease and ADPKD. Thus, the increased age at onset of RRT is most likely due to an increased access for elderly ADPKD patients or lower competing risk prior to the start of RRT rather than the consequence of effective emerging renoprotective treatments for ADPKD.

  20. 常染色体显性多囊肾病的新认识%Advances in autosomal dominant polycystic kidney disease

    Institute of Scientific and Technical Information of China (English)

    邓博

    2013-01-01

    Autosomal dominant polycystic kidney disease is the most common single-gene inherited kidney disease, it is characterized by kidney cysts and a range of extra-renal performance, due to its high incidence and poor prognosis,it becomes one of the most hot spots of the research in the field of nephrology. Its pathogenesis is not yet clear,it is generally believed ADPKD is caused by mutations in the gene PKD1 , PKD2, abnormal cilia's roles in pathogenesis is hot in recent research. In recent years,there were a number of related basic and clinical researches at home and abroad, which were progress in pathogenesis, diagnosis, and treatment emerges including the newly proposed pathogenesis such as the role of inflammation, as well as assessment of various diagnostic methods, applications of biomarkers, and discovery of new therapeutic targets. This paper briefly summaries the current research status and recent development.%常染色体显性多囊肾病(ADPKD)是一种最常见的单基因遗传性肾病,以肾脏囊肿及一系列肾外表现为临床特点,由于高发病率及预后不良,近年来成为肾脏病学领域的研究热点.其发病机制尚未明确,一般认为,ADPKD是由于基因突变导致突变基因PKD1、PKD2异常而发病,纤毛致病学说是目前研究的热点.近年来,国内外进行了很多相关的基础与临床研究,发病机制、诊断及治疗方面都有很大进步,包括新提出的发病机制,如炎症在ADPKD发病中起的作用;评估各种诊断方法,如应用生物标志物;发现新的治疗靶点等.本文就其研究现状及最新进展做一综述.

  1. Histone deacetylases and autosomal dominant polycystic kidney disease%组蛋白去乙酰化酶与多囊肾病

    Institute of Scientific and Technical Information of China (English)

    薛澄; 梅长林

    2011-01-01

    常染色体显性遗传性多囊肾病(ADPKD)是一种常见的遗传性疾病,发病率约为1/1 000~1/400.ADPKD中基因表达的表观遗传修饰和蛋白质功能的研究已成为最近研究的热点.表观遗传乙酰化修饰中的组蛋白去乙酰化酶(HDACs)参与调节了Pkd1基因的表达,其中HDAC5是液体流动引起的肾上皮细胞钙信号通路作用的靶点;HDAC6在囊泡表皮细胞中过度表达,通过α-tubulin去乙酰化参与调节纤毛形成和表皮生长因子受体(EGFR)的运输,并且通过β-catenin去乙酰化调节Wnt信号通路.HDAC抑制剂既能减少Pkd1基因条件性敲除小鼠囊肿的形成,又能延缓Pkd2基因敲除小鼠肾功能下降,因此抑制HDAC可能成为治疗ADPKD的新靶点.本文主要就ADPKD去乙酰化修饰方面的研究作一综述.%Autosomal dominant polycystic kidney disease(ADPKD) is one of the most frequent inherited kidney diseases, with the incidence rate being 100-250 per 100,000. Epigenetic gene modulation and protein functions have become a focus of study for ADPKD. Evidence generated to-date indicates that one of the epigenetic modifier, histone deacetylases (HDACs), is an important regulator of ADPKD. HDACs have been involved in regulating Pkdl gene expression. HDAC5 is the target of fluid flow-induced calcium signal in kidney epithelial cells. HDAC6 is up-regulated in cystic epithelial cells; they can regulate ciliogenesis and epidermal growth factor receptor (EGFR) transportation through deacetylating α-tubulin and regulate Wnt signaling through deacetylating β-catenin. HDAC inhibitors have been found to reduce cyst formation in Pkdl conditional knockout mice and delay renal function decline in Pkd2 knockout mice, indicating a potential to serve as a new target for ADPKD therapy. This article focuses on the recent progress in research of histone deacetylation in ADPKD.

  2. Localized Cystic Disease of the Kidney: A Rare Cause of Hypertension in a Young Adult

    Directory of Open Access Journals (Sweden)

    Aynur Solak

    2013-01-01

    Full Text Available Localized cystic disease of kidney (LCDK is a rare, non-familial, non-progressive renal disorder that is not associated with cysts or disorders in other organs. Only a few cases have been reported in the literature. While this condition is morphologically identical to the autosomal dominant form of polycystic kidney disease, it is not inherited and is not associated with significant deterioration of renal function. We present a case of a 16-year-old male patient who suffered from hypertension for over two years. On imaging we found several, variable-sized cysts in the upper half of the right kidney. The left kidney and lower segment of the right kidney were normal. Selective renal vein catheterization and sampling showed markedly elevated renin level in the right upper segmental vein (92 pg/ml, normal value: 11-33 pg/ml. The patient underwent a right upper heminephrectomy and histopathology was suggestive of LCDK. After surgery, the patient′s blood pressure returned to normal levels without any need of antihypertensive medication and he is under follow-up on outpatient basis for the past two years.

  3. Cyst Ablation Using a Mixture of N-Butyl Cyanoacrylate and Iodized Oil in Patients with Autosomal Dominant Polycystic Kidney Disease: the Long-Term Results

    Energy Technology Data Exchange (ETDEWEB)

    Kim, See Hyung; Kim, Seung Hyup; Cho, Jeong Yeon [Seoul National University College of Medicine, Seoul (Korea, Republic of)

    2009-08-15

    We wanted to assess the long-term results of cyst ablation with using N-butyl cyanoacrylate (NBCA) and iodized oil in patients with autosomal dominant polycystic kidney disease (ADPKD) and symptomatic cysts. Cyst ablation using a mixture of NBCA and iodized oil was performed in 99 cysts from 21 patients who had such symptoms as abdominal distension and pain. The collapse or reaccumulation of the ablated cysts after the procedure was assessed during the follow-up period of 36 to 90 months. The treatment effects, including symptom relief, and the clinical data such as the blood pressure and serum creatinine levels were also assessed, together with the complications. The procedure was technically successful in all 99 cysts from the 21 patients. Any procedure-related significant complications were not detected. Seventy-seven of 99 cysts (78%) were successfully collapsed on the follow-up CT. Twenty-two cysts showed reaccumulation during long-term follow-up period. The clinical symptoms were relieved in 17 of the 21 patients (76%). Four of 12 patients (33%) with hypertension and two of six patients (33%) with azotemia were improved. End stage renal disease (ESRD) occurred in six of the 21 patients (28%) during the follow-up period. The mean age of ESRD in our patients was 57 years. The mean time interval for the development of ESRD was 19 months. Ablation using a mixture of NBCA and iodized oil may be an effective, safe method for obtaining symptom relief in patients with ADPKD.

  4. Effect of glycemic index and carbohydrate intake on kidney function in healthy adults

    OpenAIRE

    Juraschek, Stephen P; Chang, Alex R.; Appel, Lawrence J.; Anderson, Cheryl A. M.; Crews, Deidra C; Thomas, Letitia; Charleston, Jeanne; Miller, Edgar R.

    2016-01-01

    Background Replacing carbohydrate with protein acutely increases glomerular filtration rate (GFR) but is associated with faster, long-term kidney disease progression. The effects of carbohydrate type (i.e. glycemic index, GI) on kidney function are unknown. Methods We conducted an ancillary study of a randomized, crossover feeding trial in overweight/obese adults without diabetes or kidney disease (N = 163). Participants were fed each of four healthy, DASH-like diets for 5 weeks, separated by...

  5. Pharmacokinetics, Pharmacodynamics, and Immunogenicity of Belatacept in Adult Kidney Transplant Recipients

    OpenAIRE

    Shen, Jinshan; Townsend, Robert; You, Xiaoli; Shen, Yun; Zhan, Ping; Zhou, Zexun; Geng, Dong; Wu, Dianna; McGirr, Nadia; Soucek, Kathleen; Proszynski, Elizabeth; Pursley, Janice; MASSON, ERIC

    2013-01-01

    Background and Objectives Belatacept is a first-in-class, selective co-stimulation blocker recently approved for the prophylaxis of organ rejection in adult kidney transplant recipients. The objective of this study was to report the pharmacokinetics, pharmacodynamics, and immunogenicity of belatacept. Methods The pharmacokinetics, pharmacodynamics (CD86 receptor occupancy), and immunogenicity of belatacept were studied in de novo adult kidney transplant recipients in phase II and III clinical...

  6. 托伐普坦治疗常染色体显性多囊性肾病患者的研究进展%Progress of tolvaptan in treatment of patients with autosomal dominant polycystic kidney disease

    Institute of Scientific and Technical Information of China (English)

    刘玉法; 陈广新; 刘纳新; 苏立军

    2014-01-01

    通过搜索PubMed,ScienceDirect,万方,CNKI数据库,选择1990~2014年文献,对托伐普坦治疗常染色体显性多囊性肾病(autosomal dominant polycystic kidney disease,ADPKD)研究情况进行综述、总结。常染色体显性多囊肾病是一种慢性进行性疾病,可显著地增加经济负担和致死率。目前尚没有特定药物用于治疗或延缓该病的进程。ADPKD患者早期使用托伐普坦可减慢疾病进程,但可能伴发频繁的、严重的不良事件,需密切监护。%Databases of PubMed,CNKI,ScienceDirect and Wanfang were searched,and the literatures were selected from 1990 to 2014,to review the studies of tolvaptan on autosomal dominant polycystic kidney disease(ADPKD).ADPKD is a chronic progressive disease which significantly enhance the economy burden and death rate.No specific drug can be used to treat or prevent the progress of ADPKD.Tolvaptan applicated in early phase could prolong the progress of ADPKD,but with frequent and serious adverse events.

  7. MRI assessment of fetal autosomal recessive polycystic kidney disease%常染色体隐性遗传性多囊肾病胎儿的MRI表现

    Institute of Scientific and Technical Information of China (English)

    董素贞; 朱铭; 钟玉敏; 张弘; 潘慧红

    2014-01-01

    目的 探讨MRI对常染色体隐性遗传性多囊肾病(ARPKD)胎儿的诊断价值.方法 回顾性分析2005年7月至2013年12月间产前超声检查提示异常,然后行MR检查,并经引产后尸解或病理证实的ARPKD胎儿16例.MR扫描序列主要采用稳态自由进动(SSFP)序列、单次激发快速自旋回波(SSTSE)序列和快速加权序列T1WI.将产前MRI、超声表现与引产后尸解或病理结果进行对照分析.结果 16例ARPKD患儿均表现为双侧肾脏体积明显增大,SSTSE序列肾髓质弥漫性高信号小囊肿.11例合并羊水过少,11例合并双肺发育不良,6例合并肝纤维化.11例双肺发育不良和6例肝脏轻度纤维化超声均未提示,肾脏病变超声误诊1例,MRI诊断均正确.结论 MRI诊断胎儿ARPKD具有明显优势,不受羊水量的影响,能准确评价肾脏及肺异常.%Objective To explore the value of MRI on fetal autosomal recessive polycystic kidney disease (ARPKD).Methods Sixteen pregnant women,aged from 28 to 38 years (average 30 years) and with gestation age from 22 to 36 weeks (average 25 weeks) underwent MR scanning with a 1.5 T MR unit within 24 to 48 hours after ultrasound examinations.The imaging sequences included steady-state free-precession (SSFP) sequence,single-shot turbo spin echo (SSTSE) sequence and T1-weighted fast imaging sequence.Prenatal US and MR imaging findings were compared with autopsy or pathological results.Results A total of 16 cases of ARPKD showed bilateral markedly enlarged kidneys and diffuse high signal small cysts in renal medulla on SSTSE sequence.Among the 16 cases,11 cases were with oligohydramnios,1 1 cases were with pulmonary hypoplasia,and 6 cases were with hepatic fibrosis.Eleven cases of pulmonary hypoplasia and 6 cases of hepatic fibrosis were all missed by US.For the diagnosis of the renal anomalies,US missed one case.MRI diagnosis was correct in all these cases.Conclusions MRI shows great advantages on the diagnosis of fetal ARPKD

  8. Surgical management of polycystic liver disease

    Institute of Scientific and Technical Information of China (English)

    2007-01-01

    Adult polycystic liver disease (PCLD) is an autosomal dominant condition commonly associated with autosomal dominant polycystic kidney disease (ADPKD). However in the last decade, it has been recognized that there is a distinct form of autosomal dominant PCLD that arises without concomitant ADPKD. Early knowledge of the pathogenesis was gained from the study of hepatic cysts in patients with ADPKD. Bile duct overgrowth after embryogenesis results in cystic hepatic dilatations that are known as biliary microhamartomas or von Meyenburg complexes. Further dilatation arises from cellular proliferation and fluid secretion into these cysts.There is a variable, broad spectrum of manifestations of PCLD. Although PCLD is most often asymptomatic,massive hepatomegaly can lead to disabling symptoms of abdominal pain, early satiety, persistent nausea,dyspnea, ascites, biliary obstruction, and lower body edema. Complications of PCLD include cyst rupture and cyst infection. Also, there are associated medical problems, especially intracranial aneurysms and valvular heart disease, which clinicians need to be aware of and evaluate in patients with PCLD. In asymptomatic patients, no treatment is indicated for PCLD. In the symptomatic patient, surgical therapy is the mainstay of treatment tailored to the extent of disease for each patient. Management options include cyst aspiration and sclerosis, open or laparoscopic fenestration, liver resection with fenestration, and liver transplantation.The surgical literature discussing treatment of PCLD,including techniques, outcomes, and complication rates,are summarized in this review.

  9. Nutrition for Advanced Chronic Kidney Disease in Adults

    Science.gov (United States)

    ... colas, canned iced teas and lemonade, nuts, and peanut butter are high in phosphorus. A renal dietitian can ... yogurt) Beans (baked, kidney, lima, pinto) Nuts and peanut butter Processed meats (hot dogs, canned meat) Cola Canned ...

  10. Imaging features of ductal plate malformations in adults

    Energy Technology Data Exchange (ETDEWEB)

    Venkatanarasimha, N., E-mail: nandashettykv@yahoo.com [Department of Radiology, Derriford Hospital, Plymouth (United Kingdom); Thomas, R.; Armstrong, E.M.; Shirley, J.F.; Fox, B.M.; Jackson, S.A. [Department of Radiology, Derriford Hospital, Plymouth (United Kingdom)

    2011-11-15

    Ductal plate malformations, also known as fibrocystic liver diseases, are a group of congenital disorders resulting from abnormal embryogenesis of the biliary ductal system. The abnormalities include choledochal cyst, Caroli's disease and Caroli's syndrome, adult autosomal dominant polycystic liver disease, and biliary hamartoma. The hepatic lesions can be associated with renal anomalies such as autosomal recessive polycystic kidney disease (ARPKD), medullary sponge kidney, and nephronophthisis. A clear knowledge of the embryology and pathogenesis of the ductal plate is central to the understanding of the characteristic imaging appearances of these complex disorders. Accurate diagnosis of ductal plate malformations is important to direct appropriate clinical management and prevent misdiagnosis.

  11. Hippo通路在常染色体显性多囊肾病中的作用%Role of Hippo pathway in autosomal dominant polycystic kidney disease

    Institute of Scientific and Technical Information of China (English)

    贺靓靓; 胡文娟; 梅长林; 胡惠民; 付丽丽

    2015-01-01

    目的 探讨Hippo通路分子在常染色体显性多囊肾病(ADPKD)发病机制中的作用,寻找可能的药物治疗靶点.方法 采用免疫荧光染色、Western印迹和实时定量PCR技术检测Han:SPRD大鼠杂合型和ADPKD患者肾组织Hippo通路分子分布、表达量以及磷酸化水平的差异.小干扰RNA特异性抑制囊肿衬里上皮细胞(WT9-12) YAP (Yes kinaseassociated protein)、TAZ(transcriptional coactivator with PDZ binding motif)和LATS1(large tumor suppressor kinase1)的表达后观察对细胞增殖、凋亡和细胞周期的影响.结果 与野生型大鼠相比,Han:SPRD杂合型大鼠囊肿衬里上皮细胞LATS1表达降低;YAP表达量及去磷酸化活化水平增加;TAZ表达与分布无明显改变.ADPKD患者肾组织中,Hippo通路分子MST1/2(macrophage stimulating1/2)、LATS1 mRNA表达显著低于正常对照(P<0.05),而YAP mRNA表达水平显著高于正常对照(P<0.05).抑制WT9-12细胞LATS1表达,能促进细胞增殖和分裂;下调YAP表达阻滞细胞于分裂间期,抑制增殖;下调TAZ表达对细胞增殖和周期无显著影响.结论 ADPKD中Hippo通路效应因子YAP去磷酸化活性增强可能是导致疾病发生、发展的重要原因之一.体外实验证实下调YAP表达可抑制肾囊肿衬里上皮细胞分裂增殖,提示YAP的表达和活性是潜在的多囊肾病治疗靶点.%Objective To explore the role of Hippo pathway in the pathogenesis of autosomal dominant polycystic kidney disease (ADPKD),and find potential targets for drug therapy.Methods By means of immunofluorescence staining,Western blotting,Real-time PCR,the differences of sublocalization,expression and phosphorylation level about Hippo pathway molecules in Han:SPRD (cy/+) and ADPKD patients compared with the control were observed.Knockdown Yes kinaseassociated protein (YAP),transcriptional coactivator with PDZ binding motif (TAZ) and large tumor suppressor kinase1 (LATS1) in cystic lining epithelium cell line WT9

  12. Birth weight and polycystic ovary syndrome in adult life: is there a causal link?

    Directory of Open Access Journals (Sweden)

    Stavroula A Paschou

    Full Text Available Several studies have demonstrated associations of birth weight with metabolic and reproductive abnormalities in adults. The aim of this study was to investigate the birth weight in women with PCOS and its correlation with clinical and biochemical characteristics of the syndrome.We studied 288 women with PCOS according to the NIH criteria and 166 women with normal cycle and without clinical hyperandrogenism. Birth weight and anthropometric characteristics were recorded, and levels of serum androgens, SHBG, insulin and fasting glucose were measured.Birth weight data were available for 243/288 women with PCOS and age- and BMI-matched 101/166 controls. No differences were found (p> 0.05 in birth weight among women with PCOS and normal controls. Birth weight of PCOS women was negatively correlated with DHEAS levels (p = 0.031, r = -0.143 and positively correlated with waist circumference (p 4.500 gr. No statistically significant differences were observed in the distribution percentages between PCOS women and controls. (A. 7% vs 7.9%, B. 26.8% vs 20.8%, C. 39.1% vs 48.5%, D. 21.4% vs 20.8%, E. 4.9% vs 2%, F. 0.8% vs 0%, (in all comparisons, p> 0.05.Women with PCOS do not differ from controls in birth weight distribution. However, birth weight may contribute to subtypes of the syndrome that are characterized by adrenal hyperandrogenism and central obesity.

  13. Adult Presentation of Ectopic Vas Deferens with Dysplastic Kidney.

    Science.gov (United States)

    Saifee, Yusuf; Modi, Pranjal

    2016-01-01

    A 24-year-old male presented with voiding lower urinary tract symptoms. On evaluation, the patient was found to have midbulbar urethral stricture and right dysplastic pelvic kidney with right vesicoureteral reflux. A micturating cystourethrogram (MCUG) shows opacification of the right vas deferens along the entire course till the testis. The patient underwent end-to-end urethroplasty. But soon the patient presented with urinary tract infection (UTI) and epididymorchitis in the follow-up period. The patient was explored laparoscopically to remove dysplastic kidney and ectopic vas deferens. Laparoscopically, the testicular end of the left vas deferens entering the deep inguinal ring was clipped and cut. Also the dysplastic kidney and ureter were removed till the vesicoureteral junction. At 1 year of follow-up, the patient is voiding well with no episodes of UTI. PMID:27579401

  14. Serum amyloid A (SAA) as a biomarker of chronic infection due to boat strike trauma in a free-ranging Florida manatee (Trichechus manatus latirostris) with incidental polycystic kidneys.

    Science.gov (United States)

    Harr, Kendal E; Rember, Renee; Ginn, Pamela E; Lightsey, Jessica; Keller, Martha; Reid, James; Bonde, Robert K

    2011-10-01

    Watercraft-related trauma is the predominant cause of human-induced mortality in manatees (Trichechus manatus latirostris), a federal- and state-listed endangered species. Pyothorax (documented in this case report) and other secondary infections are common sequelae of inhalation of water and the open wounds caused by boat propellers. These secondary infections can lead to the demise of the animal weeks to months after the traumatic incident when external wounds have healed. Diagnosis of underlying disease on physical examination during capture and restraint can be difficult. Acute phase proteins, including serum amyloid A, fibrinogen, and albumin can be used to diagnose inflammatory disease in manatees and improve quality of medical care and husbandry. We also provide the first report of polycystic kidneys in Sirenians. PMID:22102678

  15. Serum amyloid A (SAA) as a biomarker of chronic infection due to boat strike trauma in a free-ranging Florida manatee (Trichechus manatus latirostris) with incidental polycystic kidneys.

    Science.gov (United States)

    Harr, Kendal E; Rember, Renee; Ginn, Pamela E; Lightsey, Jessica; Keller, Martha; Reid, James; Bonde, Robert K

    2011-10-01

    Watercraft-related trauma is the predominant cause of human-induced mortality in manatees (Trichechus manatus latirostris), a federal- and state-listed endangered species. Pyothorax (documented in this case report) and other secondary infections are common sequelae of inhalation of water and the open wounds caused by boat propellers. These secondary infections can lead to the demise of the animal weeks to months after the traumatic incident when external wounds have healed. Diagnosis of underlying disease on physical examination during capture and restraint can be difficult. Acute phase proteins, including serum amyloid A, fibrinogen, and albumin can be used to diagnose inflammatory disease in manatees and improve quality of medical care and husbandry. We also provide the first report of polycystic kidneys in Sirenians.

  16. Serum amyloid A (SAA) as a biomarker of chronic infection due to boat strike trauma in a free-ranging Florida manatee (Trichechus manatus latirostris) with incidental polycystic kidneys

    Science.gov (United States)

    Harr, Kendal E.; Rember, Renee; Ginn, Pamela E.; Lightsey, Jessica; Keller, Martha; Reid, James; Bonde, Robert K.

    2011-01-01

    Watercraft-related trauma is the predominant cause of human-induced mortality in manatees (Trichechus manatus latirostris), a federal- and state-listed endangered species. Pyothorax (documented in this case report) and other secondary infections are common sequelae of inhalation of water and the open wounds caused by boat propellers. These secondary infections can lead to the demise of the animal weeks to months after the traumatic incident when external wounds have healed. Diagnosis of underlying disease on physical examination during capture and restraint can be difficult. Acute phase proteins, including serum amyloid A, fibrinogen, and albumin can be used to diagnose inflammatory disease in manatees and improve quality of medical care and husbandry. We also provide the first report of polycystic kidneys in Sirenians.

  17. HEMANGIOMA HEPÁTICO PRIMÁRIO EM GATA PERSA COM DOENÇA RENAL POLICÍSTICA PRIMARY HEPATIC HEMANGIOMA IN PERSIAN CAT WITH POLYCYSTIC KIDNEY DISEASE

    Directory of Open Access Journals (Sweden)

    Valdemiro Amaro da Silva Júnior

    2008-07-01

    great possibility of the rupture, hipovolemic shock and death. Because of its rarity in felines, the aim of case report was describes a primary hepatic hemangioma in a female Persian cat aged ten which the clinical symptoms initially observed were: abdominal volume increase, intermittent vomiting, apathy, anorexia and irregular ruts. Radiographic exam revealed the presence of radiopaque tissues in the liver. The hepatic ultrasound exhibited irregular shape, heterogeneous and hyperechogenic parenchyma, presenting hollowed areas which suggests neoplasm and cysts. Macroscopically it was observed ascite, hepatic steatosis and a neoplastic mass measuring about 12 x 8 cm, in addition to a considerable number of cysts. Polycystic kidneys and ovaries and cystic endometrial hyperplasia were also noticed. Microscopically was diagnosed in the liver: cysts limited by endothelial cells and delicate capsule of connective tissue, steatosis and periportal mononuclear linfocitary hepatitis with biliar ducts proliferation. The tumoral mass rose from the hepatic capsule of the conjunctive tissue. It was characterized by vascular sprouts originated from the endothelial cells with anastomosis and vessels expansion begin on superficial areas. Primary hepatic hemangioma cavernous/capillary was diagnosed. PD was diagnosed in ovarian, uterine and renal tissue.

    KEY WORDS: Cat, liver, vascular tumor.

  18. Kidney transplantation in an adult patient with VACTERL association.

    Science.gov (United States)

    Cimen, Sertac; Nantais, Jordan; Guler, Sanem; Lawen, Joseph

    2015-01-01

    The vertebral, anal, cardiac, tracheoesophageal, renal, and limb birth defects (VACTERL) association is a rare, non-random constellation of congenital abnormalities among which urinary tract anomalies can be included. In the presence of these anomalies, patients are suspected to have a higher rate of renal failure than average. We report a case of a 22-year-old woman with VACTERL association and consequent end stage renal failure. A live-related kidney transplant was carried out successfully and the postoperative course was uncomplicated. The patient had immediate graft function. Risk factors that may complicate kidney transplant surgery in this patient population as well as considerations relevant to peritransplant management are discussed. PMID:26106170

  19. The associations of physical activity and television watching with change in kidney function in older adults

    Science.gov (United States)

    Hawkins, Marquis; Newman, Anne B.; Madero, Magdalena; Patel, Kushang V.; Shlipak, Michael G.; Cooper, Jennifer; Johansen, Kirsten L.; Navaneethan, Sankar D.; Fried, Linda F

    2015-01-01

    BACKGROUND Physical activity (PA) may play a role in preserving kidney health. The purpose of this study was to determine if PA and sedentary behavior are associated with incident chronic kidney disease (CKD) and change in kidney function in older adults. METHODS The Health, Aging and Body Composition study is a prospective cohort of 3,075 well-functioning older adults. PA and television watching was measured by self-report and serum cystatin C was used to estimate glomerular filtration rate (eGFR). CKD was defined as an eGFR 3ml/min/1.73m2. Discrete survival analysis was used to determine if baseline PA and television watching were related to 10-year cumulative incidence of CKD and rapid decline in kidney function. RESULTS Individuals who reported watching television >3 hours/day had a higher risk of incident CKD (HR 1.34; 95% CI: 1.09, 1.65) and experiencing a rapid decline in kidney function (HR 1.26; 95% CI 1.05, 1.52) compared to individuals who watched television < 2 hours/day. PA was not related to either outcome. CONCLUSIONS High levels of television watching are associated with declining kidney function; the mechanisms that underlie this association need further study. PMID:24762526

  20. Renal (Kidney) Manifestations in TSC

    Medline Plus

    Full Text Available ... gene for polycystic kidney disease (PKD1), which lies right next to the TSC2 gene. Mutations in the ... Disclaimer • Privacy Policy . © 2016 Tuberous Sclerosis Alliance - All Rights Reserved. Website by Teramark

  1. 常染色体隐性遗传多囊肾病 PKHD1基因检测%Detection of PKHD1 gene in autosomal recessive polycystic kidney disease

    Institute of Scientific and Technical Information of China (English)

    宋红霞; 孙春梅; 韩蓁; 李媛; 周熙惠

    2013-01-01

    Objective To identify and analyze mutation in polycystic kidney and hepatic disease 1 ( PKHD1 ) in one abortion fetus of autosomal recessive polycystic kidney disease ( ARPKD).Methods Genome DNA was extracted from peripheral venous blood sampled from the fetus and his parents .PCR amplification and DNA direct sequencing and other technical means were adopted to perform gene mutation analysis of PKHD1.Results The following DNA sequence variations were found , ISV7+51G>T in intron 7, c.1587T>C(p. N529N) in exon 17, c.3785C>T(p.A1262V) in exon 32, which caused amino acid substitution from Alanine to Valine .Conclusion The variation of PKHD1 sequence may be involved in the pathogenesis of ARPKD .The sequence analysis of PKHD1 gene can be used as an effective method for prenatal diagnosis .%目的对1例引产的常染色体隐性遗传性多囊肾病胎儿的多囊肾/多囊肝病变1基因( PKHD1)进行基因突变鉴定和结果分析。方法采集引产胎儿及其父母外周静脉血,分别提取基因组DNA,应用PCR扩增、DNA直接测序等技术手段对该胎儿及其父母进行PKHD1基因突变分析。结果胎儿PKHD1基因出现几种序列变异:PKHD1基因第7号内含子发生ISV7+51G>T变异;第17号外显子发生c.1587T>C(p.N529N)变异;第32号外显子发生c.3785C>T(p.A1262V)变异,导致编码PKHD1蛋白多肽链第1262号氨基酸由丙氨酸变为缬氨酸。结论 PKHD1基因序列变异可能是常染色体隐性遗传性多囊肾病的病因,PKHD1基因检测可作为产前筛查的有效诊断手段。

  2. Renoprotective effects of moringa oleifera leaf extract on the kidneys of adult wistar rats

    Directory of Open Access Journals (Sweden)

    Ezejindu D. N

    2016-07-01

    Full Text Available Moringa oleifera is one of several nutritional supplements giving wide spread popularity in Nigeria and many other countries of the world. The leaves and flowers are being used by the population with great dietary importance. The aim of this study is to investigate the effects of oral administration of Moringa oleifera leaf extract on the kidneys of adult wistar rats. 24 apparently healthy adult wistar rats weighing between190- 230kg were divided into four groups of six animals each. Group A served as the control and received 0.3ml of distilled water orally. The experimental groups B, C & D received 0.5ml, 0.6ml &0.7ml of Moringa oleifera extract orally respectively. The administration lasted for twenty one days. The animals were weighed, sacrificed using chloroform vapour. The kidney tissue were removed, weighed and trimmed down for histological studies. Result of this study showed non-distortion of the kidney cells. The findings of this study suggest that chronic Moringa oleifera consumption may not put the kidneys at risk of adverse histopathological conditions.

  3. Polycystic liver disease: an overview of pathogenesis, clinical manifestations and management.

    Science.gov (United States)

    Cnossen, Wybrich R; Drenth, Joost P H

    2014-01-01

    Polycystic liver disease (PLD) is the result of embryonic ductal plate malformation of the intrahepatic biliary tree. The phenotype consists of numerous cysts spread throughout the liver parenchyma. Cystic bile duct malformations originating from the peripheral biliary tree are called Von Meyenburg complexes (VMC). In these patients embryonic remnants develop into small hepatic cysts and usually remain silent during life. Symptomatic PLD occurs mainly in the context of isolated polycystic liver disease (PCLD) and autosomal dominant polycystic kidney disease (ADPKD). In advanced stages, PCLD and ADPKD patients have massively enlarged livers which cause a spectrum of clinical features and complications. Major complaints include abdominal pain, abdominal distension and atypical symptoms because of voluminous cysts resulting in compression of adjacent tissue or failure of the affected organ. Renal failure due to polycystic kidneys and non-renal extra-hepatic features are common in ADPKD in contrast to VMC and PCLD. In general, liver function remains prolonged preserved in PLD. Ultrasonography is the first instrument to assess liver phenotype. Indeed, PCLD and ADPKD diagnostic criteria rely on detection of hepatorenal cystogenesis, and secondly a positive family history compatible with an autosomal dominant inheritance pattern. Ambiguous imaging or screening may be assisted by genetic counseling and molecular diagnostics. Screening mutations of the genes causing PCLD (PRKCSH and SEC63) or ADPKD (PKD1 and PKD2) confirm the clinical diagnosis. Genetic studies showed that accumulation of somatic hits in cyst epithelium determine the rate-limiting step for cyst formation. Management of adult PLD is based on liver phenotype, severity of clinical features and quality of life. Conservative treatment is recommended for the majority of PLD patients. The primary aim is to halt cyst growth to allow abdominal decompression and ameliorate symptoms. Invasive procedures are required

  4. Periodontal disease and chronic kidney disease among Aboriginal adults; an RCT

    OpenAIRE

    Jamieson, Lisa; Skilton, Michael; Maple-Brown, Louise; Kapellas, Kostas; Askie, Lisa; Hughes, Jaqui; Arrow, Peter; Cherian, Sajiv; Fernandes, David; Pawar, Basant; Brown, Alex; Boffa, John; Hoy, Wendy; Harris, David; Mueller, Nicole

    2015-01-01

    Background This study will assess measures of vascular health and inflammation in Aboriginal Australian adults with chronic kidney disease (CKD), and determine if intensive periodontal intervention improves cardiovascular health, progression of renal disease and periodontal health over a 24-month follow-up. Methods The study will be a randomised controlled trial. All participants will receive the periodontal intervention benefits, with the delayed intervention group receiving periodontal trea...

  5. When Your Child Needs a Kidney Transplant

    Science.gov (United States)

    ... One example is polycystic kidney disease, in which normal kidney tissue is replaced by fluid-filled sacs. Glomerular ... kidney will be needed. In some cases, donor kidneys come from a close relative ... whose organs are similar in size to the child's. If a living donor can' ...

  6. Polycystic liver in the adult (PLA in Spain: analysis of a structured survey analysing the experience and attitude of gastroenterologists in Spain

    Directory of Open Access Journals (Sweden)

    Javier Ampuero

    2014-04-01

    Full Text Available Background: Polycystic liver in the adult (PLA is a rare disease characterized by chronic liver enlargement. Objective: To analyse gastroenterologists' involvement in, experience with, and attitude toward diagnosing, monitoring, and treating patients with PLA in Spain. Methods: Each of seven study coordinators contacted 15 specialists in their geographic area about participating in the study via an online structured survey. Results: Of the 105 clinics contacted, 88 completed the questionnaire, with a mean of 3 patients being followed per practice, although 6 clinics were following more than 20 patients with PLA. Patients were being followed mainly by the Department of Hepatology (81 % and/or the Department of Gastroenterology (33 %. The majority of patients were diagnosed (98 % and monitored (97 % using liver ultrasound. When diagnosed, 76 % of patients were under 50 years of age, females predominating. The primary treatment objective for the patients was symptomatic management. Pharmacotherapy was prescribed by 28 % of physicians: Somatostatin analogues, primarily, followed by mTOR inhibitors. One-third of the clinics indicated that they had patients who had undergone liver transplant and/or surgery. Conclusions: Ultrasound is the diagnosing and monitoring method of choice. Among the clinics using pharmacotherapy for symptomatic management, somatostatin analogues were the drugs of choice. These clinics' infrequent use of invasive procedures suggests that they perceive the various invasive techniques as not very effective.

  7. Marked cerebral atrophy is correlated with kidney dysfunction in nondisabled adults

    International Nuclear Information System (INIS)

    The relationship between kidney dysfunction, such as chronic kidney disease (CKD), and brain morphology has attracted increasing attention, but the association between kidney dysfunction and cerebral atrophy has yet to be determined. The purpose of this study was to clarify the relationship between kidney function and a substantial degree of cerebral atrophy. A total of 610 consecutive Japanese adults without neurological disorders who had undergone health screening tests of the brain were studied prospectively. Magnetic resonance imaging was performed using a 1.5-T scanner. Using a computer-assisted processing system, the percentage of cerebrum atrophy (%Cerebrum atrophy) was calculated as an index of cerebral atrophy. Atrophy was defined as >2 s.d.s below the mean %Cerebrum atrophy. The glomerular filtration rate (GFR) was estimated using the revised equations for estimated GFR from serum creatinine in Japan. Kidney function variables included the GFR value and the prevalence of subjects with GFR -1 per 1.73 m2. Cerebral atrophy was found in 25 (4.1%) cases. Univariate analysis showed that age, male sex, hypertension, each kidney function variable, white matter hyperintensities and lacunae were associated with cerebral atrophy. On logistic regression analysis, GFR (odds ratio (OR), 0.64; 95% confidence interval (CI), 0.42-0.98) and GFR -1 per 1.73 m2 (OR, 5.93; 95% CI, 1.82-19.27) were significantly associated with cerebral atrophy. On sub-analysis, GFR -1 per 1.73 m2 was significantly associated with cortical atrophy (OR, 3.23; 95% CI, 1.15-9.11). Decreased GFR was significantly associated with cerebral atrophy, indicating that treatment of CKD may control age-related degenerative processes of the brain. (author)

  8. Histological changes in kidneys of adult rats treated with Monosodium glutamate: A light microscopic study

    Directory of Open Access Journals (Sweden)

    Singh BR, Ujwal Gajbe, Anil Kumar Reddy, Vandana Kumbhare

    2015-01-01

    Full Text Available Introduction: Monosodium Glutamate (MSG, which is chemically known as AJI-NO-MOTO also familiar as MSG in routine life. MSG is always considered to be a controversial food additive used in the world. It is a natural excitatory neurotransmitter, helps in transmitting the fast synaptic signals in one third of CNS. Liver and kidney play a crucial role in metabolism as well as elimination of MSG from the body. Present study is to detect structural changes in adult rat kidney tissue treated with MSG; observations are done with a light microscope. Materials & Methods: The study was conducted in the department of Anatomy, J.N.M.C, Sawangi (M Wardha. Thirty (30 adult Wistar rats (2-3 months old weighing about (200 ± 20g were used in the current study, animals were divided into three groups (Group – A, B, C. Group A: Control, Group B: 3 mg /gm body weight, Group C: 6 mg /gm body weight, MSG were administered orally daily for 45 days along with the regular diet. Observations & Results: The Mean values of animals weight at the end of experiment (46th day respectively were 251.2 ± 13, 244.4 ± 19.9 and 320 ± 31.1. Early degenerative changes like, Glomerular shrinkage (GSr, loss of brush border in proximal convoluted tubules and Cloudy degeneration was observed in sections of kidney treated with 3 mg/gm body weight of MSG. Animals treated with 6 mg/gm body weight of MSG showed rare changes like interstitial chronic inflammatory infiltrate with vacuolation in some of the glomeruli, and much glomerular shrinkage invaginated by fatty lobules. Conclusion: The effects of MSG on kidney tissues of adult rats revealed that the revelatory changes are directly proportional to the doses of MSG.

  9. Histological effects of oral administration of nutmeg on the kidneys of adult Wister rats

    Directory of Open Access Journals (Sweden)

    Andrew Osayame Eweka

    2010-04-01

    Full Text Available Aims: The effects of oral administration of nutmeg commonly used as spice in various dishes, as components of teas and soft drinks or mixed in milk and alcohol on the kidneys of adult Wistar rats were carefully studied. Material and Methods: Rats of both sexes (n = 24, with average weight of 220g were randomly assigned into two treatments (A & B of (n=16 and Control (c (n=8 groups. The rats in the treatment groups (A & B received 0.1g (500mg/kg body weight and 0.2g (1000mg/kg body weight of nutmeg thoroughly mixed with the feeds respectively on a daily basis for forty-two days. The control group (c received equal amount of feeds daily without nutmeg added for forty-two days. The growers’ mash feeds was obtained from Edo Feeds and Flour Mill Limited, Ewu, Edo state, Nigeria and the rats were given water liberally. The rats were sacrificed by cervical dislocation on the forty-third day of the experiment. The kidneys were carefully dissected out and quickly fixed in 10% buffered formaldehyde for routine histological study after hematoxylin and eosin method. Result: The histological findings in the treated sections of the kidneys showed distortion of the renal cortical structures, vacuolations appearing in the stroma and some degree of cellular necrosis, with degenerative and atrophic changes when compared to the control group. Conclusion: These findings indicate that oral administration of nutmeg may have some deleterious effects on the kidneys of adult Wistar rats at higher doses and by extension may affect its excretory and other metabolic functions. It is recommended that caution should therefore be advocated in the intake of this product and further studies be carried out to examine these findings.

  10. Histological effects of oral administration of nutmeg on the kidneys of adult Wister rats

    Directory of Open Access Journals (Sweden)

    Andrew Osayame Eweka

    2010-01-01

    Full Text Available Aims: The effects of oral administration of nutmeg commonly used as spice in various dishes, as components of teas and soft drinks or mixed in milk and alcohol on the kidneys of adult Wistar rats were carefully studied. Material and Methods: Rats of both sexes (n = 24, with average weight of 220g were randomly assigned into two treatments (A & B of (n=16 and Control (c (n=8 groups. The rats in the treatment groups (A & B received 0.1g (500mg/kg body weight and 0.2g (1000mg/kg body weight of nutmeg thoroughly mixed with the feeds respectively on a daily basis for forty-two days. The control group (c received equal amount of feeds daily without nutmeg added for forty-two days. The growers′ mash feeds was obtained from Edo Feeds and Flour Mill Limited, Ewu, Edo state, Nigeria and the rats were given water liberally. The rats were sacrificed by cervical dislocation on the forty-third day of the experiment. The kidneys were carefully dissected out and quickly fixed in 10% buffered formaldehyde for routine histological study after hematoxylin and eosin method. Result: The histological findings in the treated sections of the kidneys showed distortion of the renal cortical structures, vacuolations appearing in the stroma and some degree of cellular necrosis, with degenerative and atrophic changes when compared to the control group. Conclusion: These findings indicate that oral administration of nutmeg may have some deleterious effects on the kidneys of adult Wistar rats at higher doses and by extension may affect its excretory and other metabolic functions. It is recommended that caution should therefore be advocated in the intake of this product and further studies be carried out to examine these findings.

  11. Clinical study on polycystic ovarian syndrome with kidney-nourishing and liveradjusting therapies%补肾调肝法治疗多囊卵巢综合征临床研究

    Institute of Scientific and Technical Information of China (English)

    王燕; 刘莹

    2011-01-01

    目的:通过补肾调肝法治疗多囊卵巢综合征,研究李光荣教授提出的“情志不遂是多囊卵巢综合征重要的诱发因素之一”理论的正确性.方法:以补肾调肝方多囊饮治疗患者42例,研究采用自身前后对照法,观察患者性激素变化、月经及排卵情况.结果:治疗后LH、LH/FSH、T下降,E2水平升高(均P<0.05);月经周期及经期缩短(P<0.05);治疗后排卵率63.64%,妊娠成功率72.73%.结论:“情志不遂是多囊卵巢综合征重要的诱发因素之一”理论指导临床有一定的正确性,补肾调肝法是治疗多囊卵巢综合征有效治则.%Objective: The aim of the clinical study with kidney-nourishing and liver-adjusting therapies was to proof the validity of Prof. LI Guang-rong's academic thought that emotional disturbance is an important inducement of Polycystic ovarian syndrome (PCOS). Methods: 42 PCOS cases were treated by kidney-nourishing and liver-adjusting therapies. Before and after self control study was adopted. Observation indexes were sex hormone, menstruation and ovulation. Results: After treatment, LH, LH/FSH and T levels decreased and E2 level increased with statistic significance; Both menstrual cycle and menstrual period were shorted with statistic significance; Infertility patients' ovulation rate was 63.64% and success rate of pregnancy was 72.73%. Conclusion: The academic thought that emotional disturbance is an important inducement of PCOS is a right guide to clinic, and kidney-nourishing and liver-adjusting are appropriate therapies for POCS treatment

  12. Abdominal Obesity, Race and Chronic Kidney Disease in Young Adults: Results from NHANES 1999-2010

    Science.gov (United States)

    Sarathy, Harini; Henriquez, Gabriela; Abramowitz, Matthew K.; Kramer, Holly; Rosas, Sylvia E.; Johns, Tanya; Kumar, Juhi; Skversky, Amy; Kaskel, Frederick; Melamed, Michal L.

    2016-01-01

    Objective Kidney dysfunction in obesity may be independent of and may precede the development of hypertension and/or diabetes mellitus. We aimed to examine if abdominal obesity is associated with early markers of CKD in a young healthy population and whether these associations differ by race and/or ethnicity. Methods We analyzed data from the NHANES 1999–2010 for 6918 young adults ages 20–40 years. Abdominal obesity was defined by gender criteria of waist circumference. CKD markers included estimated glomerular filtration rate and albuminuria ≥30 mg/g. Race stratified analyses were done overall and in subgroups with normal blood pressures, normoglycemia and normal insulin sensitivity. Awareness of CKD was assessed in participants with albuminuria. Results Abdominal obesity was present in over one-third of all young adults and was more prevalent among non-Hispanic blacks (45.4%) versus Mexican-Americans (40.6%) or non-Hispanic whites (37.4%) (P-value = 0.004). Mexican-American young adults with abdominal obesity had a higher odds of albuminuria even among those with normal blood pressure, normal glucose, and normal insulin sensitivity [adjusted odds ratio 4.5; 95% confidence interval (1.6–12.2), p = 0.004]. Less than 5% of young adults with albuminuria of all races and ethnicities had been told they had kidney disease. Conclusion Abdominal obesity in young adults, especially in Mexican-Americans, is independently associated with albuminuria even with normal blood pressures, normoglycemia and normal insulin levels. Greater awareness of CKD is needed to protect this young population from long-standing exposure to abdominal obesity and early progressive renal disease. PMID:27224643

  13. Risk Factors for Acute Kidney Injury in Older Adults With Critical Illness: A Retrospective Cohort Study

    Science.gov (United States)

    Kane-Gill, Sandra L.; Sileanu, Florentina E.; Murugan, Raghavan; Trietley, Gregory S.; Handler, Steven M.; Kellum, John A.

    2014-01-01

    Background Risk for acute kidney injury (AKI) in older adults has not been systematically evaluated. We sought to delineate the determinants of risk for AKI in older compared to younger adults. Study Design Retrospective analysis of patients hospitalized in July 2000–September 2008. Setting & Participants We identified all adult patients admitted to an intensive care unit (ICU) (n=45,655) in a large tertiary care university hospital system. We excluded patients receiving dialysis or kidney transplant prior to hospital admission, and patients with baseline creatinine ≥ 4 mg/dl, liver transplantation, indeterminate AKI status, or unknown age, leaving 39,938 patients. Predictor We collected data on multiple susceptibilities and exposures including age, sex, race, body mass, comorbid conditions, severity of illness, baseline kidney function, sepsis, and shock. Outcomes We defined AKI according to KDIGO (Kidney Disease: Improving Global Outcomes) criteria. We examined susceptibilities and exposures across age strata for impact on development of AKI. Measurements We calculated area under the receiver operating characteristic curve (AUC) for prediction of AKI across age groups. Results 25,230 patients (63.2%) were aged 55 years or older. Overall 25,120 patients (62.9%) developed AKI (69.2% aged 55 years or older). Examples of risk factors for AKI in the oldest age category (75 years or older) were drugs (vancomycin, aminoglycosides, nonsteroidal anti-inflammatories), history of hypertension (OR, 1.13; 95% CI, 1.02–1.25) and sepsis (OR, 2.12; 95% CI, 1.68–2.67). Fewer variables remained predictive of AKI as age increased and the model for older patients was less predictive (p<0.001). For the age categories 18–54, 55–64, 65–74, and 75 years or older, the AUCs were 0.744 (95% CI, 0.735–0.752), 0.714 (95% CI, 0.702–0.726), 0.706 (95% CI, 0.693–0.718), and 0.673 (95% CI, 0.661–0.685), respectively. Limitations Analysis may not apply to non-ICU patients

  14. Defining the molecular character of the developing and adult kidney podocyte.

    Directory of Open Access Journals (Sweden)

    Eric W Brunskill

    Full Text Available BACKGROUND: The podocyte is a remarkable cell type, which encases the capillaries of the kidney glomerulus. Although mesodermal in origin it sends out axonal like projections that wrap around the capillaries. These extend yet finer projections, the foot processes, which interdigitate, leaving between them the slit diaphragms, through which the glomerular filtrate must pass. The podocytes are a subject of keen interest because of their key roles in kidney development and disease. METHODOLOGY/PRINCIPAL FINDINGS: In this report we identified and characterized a novel transgenic mouse line, MafB-GFP, which specifically marked the kidney podocytes from a very early stage of development. These mice were then used to facilitate the fluorescent activated cell sorting based purification of podocytes from embryos at E13.5 and E15.5, as well as adults. Microarrays were then used to globally define the gene expression states of podocytes at these different developmental stages. A remarkable picture emerged, identifying the multiple sets of genes that establish the neuronal, muscle, and phagocytic properties of podocytes. The complete combinatorial code of transcription factors that create the podocyte was characterized, and the global lists of growth factors and receptors they express were defined. CONCLUSIONS/SIGNIFICANCE: The complete molecular character of the in vivo podocyte is established for the first time. The active molecular functions and biological processes further define their unique combination of features. The results provide a resource atlas of gene expression patterns of developing and adult podocytes that will help to guide further research of these incredible cells.

  15. Polycystic Ovary Syndrome in Adolescents.

    Science.gov (United States)

    Witchel, Selma Feldman; Roumimper, Hailey; Oberfield, Sharon

    2016-06-01

    Polycystic ovary syndrome (PCOS) is a familial heterogeneous disorder affecting 6% to 10% of reproductive-age women. The use of criteria developed for adult women is problematic for the adolescent girl because the clinical features associated with PCOS are normal pubertal events. The recent consensus statement on PCOS in adolescents stated that hyperandrogenism and oligomenorrhea need to persist for at least 2 years to consider the diagnosis of PCOS. Although insulin resistance, hyperinsulinism, and obesity are often associated with PCOS, these features are not considered valid diagnostic criteria. Recent genomewide association studies implicate genetic loci involved in the hypothalamic-pituitary-ovarian axis. PMID:27241968

  16. Low birth weight is associated with earlier onset of end-stage renal disease in Danish patients with autosomal dominant polycystic kidney disease

    DEFF Research Database (Denmark)

    Orskov, Bjarne; Christensen, Karl Bang; Feldt-Rasmussen, Bo;

    2012-01-01

    weight, adult height, mean arterial pressure, gender, birth decade, and type of antihypertensive treatment showed that for every kilogram increase in birth weight, the age at onset of ESRD significantly increased by 1.7 years. Male gender and increased mean arterial pressure were both associated...

  17. Design and methods of the NiCK study: neurocognitive assessment and magnetic resonance imaging analysis of children and young adults with chronic kidney disease

    OpenAIRE

    Hartung, Erum A.; Laney, Nina; Kim, Ji Young; Ruebner, Rebecca L.; Detre, John A.; Liu, Hua-shan; Davatzikos, Christos; Erus, Guray; Doshi, Jimit J.; Schultz, Robert T.; Herrington, John D.; Jawad, Abbas F.; Moodalbail, Divya G; Gur, Ruben C.; Port, Allison M

    2015-01-01

    Background Chronic kidney disease is strongly linked to neurocognitive deficits in adults and children, but the pathophysiologic processes leading to these deficits remain poorly understood. The NiCK study (Neurocognitive Assessment and Magnetic Resonance Imaging Analysis of Children and Young Adults with Chronic Kidney Disease) seeks to address critical gaps in our understanding of the biological basis for neurologic abnormalities in chronic kidney disease. In this report, we describe the ob...

  18. Urine Kidney Injury Molecule-1 can Predict the Progression of Autosomal Dominant Polycystic Kidney Disease in Early Stage Patients%尿肾损伤分子-1预示常染色体显性多囊肾病早期发展速度

    Institute of Scientific and Technical Information of China (English)

    马熠熠; 陈冬平; 梅长林; 郁胜强; 李林; 徐成钢

    2011-01-01

    目的:探讨尿KIM-1水平与早期ADPKD患者病情进展的相关性,及其预示作用.方法:(1)收集临床确诊为ADPKD患者(CKD1,2期)及体检健康人群各40例,并取其晨起后第2次尿液标本,采用ELISA方法测定尿液中Kim-1浓度,比较多囊肾病人群与正常人群在Kim-1表达程度的差异;(2)用多囊肾患者肾脏体积增长速度判断疾病进展状况,用MRI肾脏成像的方法计算6个月间隔后肾脏体积增长情况;(3)去除肾脏总体积大于1 500 cm3的患者,以肾脏体积半年增长率2.7%为界,将患者划分为高平均速度组和低平均速度组,比较两组间KIM-1水平差异.结果:(1)多囊肾患者与正常人群相比,eGFR水平(采用CKD-EPI公式计算)差异无统计学意义(P>0.05),但尿中Kim-1水平多囊肾病组显著升高[(837.9±821.5) pg/ml vs (440.3±270.2) pg/ml,P<0.05];(2)多囊肾患者半年肾脏体积增长速度为(4.88±3.86)%,显著高于国外报道的多囊肾患者半年体积增长速度;(3)高平均速度组KIM-1水平高于低平均速度组(P<0.05).结论:Kim-1作为肾小管损伤后出现的一种重要的生物标记物在多囊肾病患者群中表达显著升高,能预示早期肾脏体积并未发展到一定程度的多囊肾患者肾体积的增长快慢,但Kim-1在疾病进展中的作用机制仍需要进一步的实验研究阐明.%Objective:To study the correlation between urine Kidney injury molecule - 1( KIM - 1 ) and the progression of Autosomal Dominant Polycystic Kidney Disease ( ADPKD ) in early stage patients.Methods :( 1 )Human KIM - 1 Elisa kit was used to determine the different levels of urine KIM - 1 in 40 ADPKD patients and 40 healthy individuals.All the patients were diagnosed with stage Ⅰ or stage Ⅱ chronic kidney disease at the time of enrollment.( 2 )We used the increasing rate of total kidney volume to evaluate the progression of ADPKD patients.Increases in kidney volume in ADPKD patients were detected within 6 months by

  19. 归逍方治疗肾虚肝郁型多囊卵巢综合征临床研究%Clinical Study of Guixiao Fang on Polycystic Ovary Syndrome Patients with Kidney-Asthenia and Liver Depression Syndrome

    Institute of Scientific and Technical Information of China (English)

    杨正望; 赵娜; 全春梅

    2016-01-01

    目的:观察归逍方治疗多囊卵巢综合征肾虚肝郁证的临床疗效并探讨其作用机制。方法将60例多囊卵巢综合征患者随机分为治疗组和对照组各30例。治疗组予归逍方口服治疗,对照组予口服炔雌醇环丙孕酮片治疗,疗程3个月。观察比较两组总疗效及治疗前后促黄体生成素(LH)、卵泡刺激素(FSH)、睾酮(T)、体质量指数(BMI)、F-G评分、痤疮评分、卵巢体积、中医证候积分变化。结果治疗组总有效率为87.6%,对照组为63.3%,治疗组疗效优于对照组(P<0.05);治疗组在降低BMI、LH、中医证候积分及缩小卵巢体积方面疗效优于对照组(P<0.05);两组在降低T、LH/FSH 及改善患者多毛、痤疮方面疗效相当(P>0.05)。结论归逍方治疗肾虚肝郁型多囊卵巢综合征临床疗效确切,其作用机制可能与改善LH/FSH比值、降低T水平相关。%Objective To observe the clinical efficacy of Guixiao Fang on polycystic ovary syndrome (PCOS) patients with kidney-asthenia liver depression syndrome, and investigate the mechanism. Methods The sixty PCOS patients with kidney liver depression syndrome were randomly divided into the treatment group and the control group, 30 cases in each group. Patients in the treatment group were treated by Guixiao Fang, and the patients in the control group were given progesterone tablets of the estradiol. Results The total effective rate in treatment group is 87.6%, the control group is 63.3%, the treatment group is superior to the control group (P0.05). Conclusion Guixiao Fang shows obvious clinical effect in treating PCOS patients with kidney liver depression syndrome, its mechanism may be related with the improving LH/FSH and reducing the T level.

  20. Pregnancy in chronic kidney disease.

    Science.gov (United States)

    Vellanki, Kavitha

    2013-05-01

    Despite vast improvements in fetal outcomes, pregnancy in women with CKD is fraught with hazards; worsening of renal function and complications like preeclampsia and premature delivery are common. To date, there is no accurate formula to calculate glomerular filtration rate (GFR). Also, whether the current CKD classification is better than the older classification at predicting outcomes in pregnant women with CKD is unknown. Women with an estimated GFR ≥1.4 mg/dL are at increased risk of progressive worsening of renal function regardless of the cause of the underlying kidney disease. Preeclampsia is difficult to diagnose in pregnant women with underlying CKD, and serum markers such as soluble fms-like tyrosine kinase 1 (sFlt1) and placental growth factor (PIGF) may lead the way for definitive diagnosis. New-onset lupus or lupus flare is an indication for kidney biopsy during pregnancy; cyclosporine is safe and is the most effective agent that can be used during pregnancy. Women with adult polycystic kidney disease are at increased risk of hypertension and preeclampsia during pregnancy, as well as hepatic cysts later in life, the latter occurring with multiple pregnancies. Strict blood pressure control is important in pregnant women with diabetic nephropathy. A multidisciplinary team that includes nephrologists and obstetricians who deal with high-risk pregnancies should be involved in the care of pregnant women with CKD for successful pregnancy outcomes. PMID:23928386

  1. A Chinese autosomal dominant polycystic kidney disease family probably related to PKD2 gene%一个可能与PKD2基因连锁的常染色体显性多囊肾病家系

    Institute of Scientific and Technical Information of China (English)

    孙岩; 丁兰; 王有麒; 周宏远; 张思仲

    2005-01-01

    目的研究常染色体显性多囊肾病(autosomal dominant polycystic kidney disease,ADPKD)在中国人中的遗传异质性. 方法采用聚合酶链反应(polymerase chain reaction, PCR)、非变性聚丙烯酰胺凝胶电泳,检测了1个ADPKD家系各成员中与PKD1基因连锁的4种和与PKD2连锁的4种微卫星标记的基因分型.然后以软件辅助构建单倍型,并推测疾病单倍型.结果发现该ADPKD家系中,与PKD1紧密连锁的4个微卫星KG8、SM6、CW4和CW2是有信息的;与PKD2基因紧密连锁的3种微卫星DNA D4S1563、D4S414和D4S423是有信息的.推定的单倍型提示,在这个家系中疾病可能与PKD2连锁,而不与PKD1连锁.结论在此家系中,受累成员间存在表型异质性,并且有一个早发的儿童患者.与PKD2连锁的家系较少,这个家系的报道表明中国人中存在ADPKD的遗传异质性, PKD2的异常也可能会引起中国人ADPKD的发生.另外,发现有遗传早现现象存在,且疾病通过母亲传递.这提示在与PKD1不连锁的家系中后代可能早发病.

  2. Clinical analysis of 3 cases of autosomal dominant polycystic kidney disease and primary IgA nephropathy%3例多囊肾病合并原发性IgA肾病病例分析

    Institute of Scientific and Technical Information of China (English)

    薛澄; 周晨辰; 王文芩; 李兰君; 贺靓靓; 赵学智; 梅长林

    2013-01-01

    目的 常染色体显性遗传多囊肾病(autosomal dominant polycystic kidney disease,ADPKD)发病率为1/1000~1/400,是主要由PKD1或PKD2基因突变而引起的遗传性肾病.ADPKD 合并IgA肾病(IgA nephropathy,IgAN)的病例临床上较为少见,可伴有肾病综合征.本研究旨在探讨ADPKD合并原发性IgAN的病理特点和治疗方案.方法 对3例ADPKD并IgAN患者的临床表现、ADPKD家族史、实验室检查、病理诊断及预后进行回顾性分析.结果 3例患者发病年龄31~53岁,均以少尿、水肿、大量蛋白尿为主要症状,肾穿刺活检术后诊断为1例HassⅡ型IgAN和2例Hass Ⅰ型IgAN.病例1给予泼尼松联合环磷酰胺治疗,病例2给予泼尼松联合吗替麦考酚酯治疗,病例3单用泼尼松治疗.经过免疫抑制治疗后,患者大量蛋白尿和血尿均得到缓解.虽然患者随访时总肾脏体积仍出现增长,但长期肾功能保持良好.结论 ADPKD伴大量蛋白尿根据囊泡位置尽可能开展肾活检.ADPKD并IgAN的患者应根据分型给予循证支持的免疫抑制治疗,可以减少蛋白尿,有助于预防肾衰竭的发生.

  3. The evolution of nonimmune histological injury and its clinical relevance in adult-sized kidney grafts in pediatric recipients.

    Science.gov (United States)

    Naesens, M; Kambham, N; Concepcion, W; Salvatierra, O; Sarwal, M

    2007-11-01

    To describe the evolution, risk factors and impact of nonimmune histological injury after pediatric kidney transplantation, we analyzed 245 renal allograft protocol biopsies taken regularly from the time of transplantation to 2 years thereafter in 81 consecutive rejection-free pediatric recipients of an adult-sized kidney. Isometric tubular vacuolization was present early after transplantation was not progressive, and was associated with higher tacrolimus pre-dose trough levels. Chronic tubulo-interstitial damage and tubular microcalcifications were already noted at 3 months, were progressive and had a greater association with small recipient size, male donor gender, higher donor age and female recipient gender, but not with tacrolimus exposure. Renal function assessment showed that older recipients had a significant increase in absolute glomerular filtration rate with time after transplantation, which differed from small recipients who showed no increase. It is concluded that progressive, functionally relevant, nonimmune injury is detected early after adult-sized kidney transplantation in pediatric recipients. Renal graft ischemia associated with the donor-recipient size discrepancy appears to be a greater risk factor for this chronic histological injury, suggesting that the exploration of additional therapeutic approaches to increase allograft perfusion could further extend the graft survival benefit of adult-sized kidneys transplanted into small children.

  4. Distinct injury markers for the early detection and prognosis of incident acute kidney injury in critically ill adults with preserved kidney function

    OpenAIRE

    Siew, Edward D.; Ware, Lorraine B.; Bian, Aihua; Shintani, Ayumi; Eden, Svetlana; Wickersham, Nancy; Cripps, Ben; Ikizler, T. Alp

    2013-01-01

    The use of novel biomarkers to detect incident acute kidney injury (AKI) in the critically ill is hindered by heterogeneity of injury and the potentially confounding effects of prevalent AKI. Here we examined the ability of urine NGAL (NGAL), L-type Fatty Acid Binding Protein (L-FABP), and Cystatin C to predict AKI development, death, and dialysis in a nested case-control study of 380 critically ill adults with an eGFR over 60 ml/min/1.73 m2. One-hundred thirty AKI cases were identified follo...

  5. Micronutrient Intakes and Incidence of Chronic Kidney Disease in Adults: Tehran Lipid and Glucose Study

    Directory of Open Access Journals (Sweden)

    Hossein Farhadnejad

    2016-04-01

    Full Text Available The aim of this study was to investigate the associations between micronutrient intakes and the 3.6-year incidence of chronic kidney disease (CKD in adults. This cohort study was conducted, within the framework of the Tehran Lipid and Glucose Study, on 1692 subjects, aged ≥30 years, without CKD at the baseline. Dietary intakes were collected using a valid and reliable food-frequency questionnaire. Anthropometrics and biochemical measurements were taken. Chronic kidney disease was defined as eGFR < 60 mL/min/1.73 m2. The mean age of participants was 43.3 ± 11.4 years. In the fully adjusted model, individuals in the top quintile of folate (OR: 0.44, 95% CI: 0.24–0.80, cobalamin (OR: 0.57, 95% CI: 0.34–0.93, vitamin C (OR: 0.38, 95% CI: 0.21–0.69, vitamin E (OR: 0.45, 95% CI: 0.22–0.92, vitamin D (OR: 0.39, 95% CI: 0.21–0.70, potassium (OR: 0.47, 95% CI: 0.23–0.97 and magnesium (OR: 0.41, 95% CI: 0.22–0.76 had decreased risk of CKD, and in the top quintile of sodium (OR: 1.64, 95% CI: 1.03–2.61, subjects had increased risk of CKD, in comparison to the bottom quintile. No significant associations were found between the intakes of other micronutrients. High intake of several micronutrients including vitamins C, E, D, cobalamin, folate, magnesium, and potassium was associated with a decreased risk, while sodium was associated with an increased risk of incident CKD.

  6. Nonhuman primate models of polycystic ovary syndrome

    OpenAIRE

    David H Abbott; Nicol, Lindsey E.; Levine, Jon E; Xu, Ning; Goodarzi, Mark O.; Dumesic, Daniel A.

    2013-01-01

    With close genomic and phenotypic similarity to humans, nonhuman primate models provide comprehensive epigenetic mimics of polycystic ovary syndrome (PCOS), suggesting early life targeting for prevention. Fetal exposure to testosterone (T), of all nonhuman primate emulations, provides the closest PCOS-like phenotypes, with early-to-mid gestation T-exposed female rhesus monkeys exhibiting adult reproductive, endocrinological and metabolic dysfunctional traits that are co-pathologies of PCOS. L...

  7. Sheep models of polycystic ovary syndrome phenotype

    OpenAIRE

    Padmanabhan, Vasantha; Veiga-Lopez, Almudena

    2012-01-01

    Polycystic ovary syndrome (PCOS) is a fertility disorder affecting 5–7% of reproductive-aged women. Women with PCOS manifest both reproductive and metabolic defects. Several animal models have evolved, which implicate excess steroid exposure during fetal life in the development of the PCOS phenotype. This review addresses the fetal and adult reproductive and metabolic consequences of prenatal steroid excess in sheep and the translational relevance of these findings to PCOS. By comparing findi...

  8. Clinical and genetic study of a family affected with spinocerebellar ataxia 3 and polycystic kidney disease%脊髓小脑共济失调3型伴多囊肾家系的临床特征和基因突变分析

    Institute of Scientific and Technical Information of China (English)

    李海江; 张林明; 陈涛; 杨丹; 朱杨帆; 王丽红

    2015-01-01

    目的 对1个脊髓小脑共济失调3型(spinocerebellar ataxia 3,SCA3)伴多囊肾病(polycystic kidney disease,PKD)家系的临床特征和致病基因突变进行研究.方法 应用PCR扩增、DNA测序等技术分析该家系成员SCA3基因第10外显子,PKD1、PKD2基因所有外显子及其邻近DNA系列片段,同时分析该家系患者的临床特征.结果 先证者SCA3基因CAG重复次数为28/76,一个等位基因的重复次数在全突变范围,其PKD1基因第23外显子发现序列异常.先证者临床症状严重,表现为严重的共济失调、锥体束征、Meige综合征、抑郁症和高血压.结论 遗传性脊髓小脑共济失调3型和常染色体显性多囊肾病可同时发生在一个家系,基因检测是主要的确诊手段.%Objective To investigate clinical features and genetic mutations of a family affected with spinocerebellar ataxia 3 and polycystic kidney disease.Methods Polymerase chain reaction and DNA sequencing were employed to analyze exon 10 of the SCA3 gene,in addition with all exons and flanking sequences of PKD1 and PKD2 genes.The clinical features were also carefully analyzed.Results The numbers of CAG repeat in the proband's SCA3 gene were 28/76,with the number of repeats in the mutant allele being in the full range.The sequence of exon 23 of the PKD1 gene was also found to be abnormal.Clinical symptoms of the proband were very serious,which were characterized by obvious ataxia,pyramidal signs,Meige syndrome,depression and high blood pressure.Conclusion Hereditary spinocerebellar ataxia 3 and autonomic dominant polycystic kidney disease may co-occur,and genetic testing is the primary means of diagnosis.

  9. Immunosuppressive therapy for kidney transplantation in adults: a systematic review and economic model.

    Science.gov (United States)

    Jones-Hughes, Tracey; Snowsill, Tristan; Haasova, Marcela; Coelho, Helen; Crathorne, Louise; Cooper, Chris; Mujica-Mota, Ruben; Peters, Jaime; Varley-Campbell, Jo; Huxley, Nicola; Moore, Jason; Allwood, Matt; Lowe, Jenny; Hyde, Chris; Hoyle, Martin; Bond, Mary; Anderson, Rob

    2016-01-01

    BACKGROUND End-stage renal disease is a long-term irreversible decline in kidney function requiring renal replacement therapy: kidney transplantation, haemodialysis or peritoneal dialysis. The preferred option is kidney transplantation, followed by immunosuppressive therapy (induction and maintenance therapy) to reduce the risk of kidney rejection and prolong graft survival. OBJECTIVES To review and update the evidence for the clinical effectiveness and cost-effectiveness of basiliximab (BAS) (Simulect(®), Novartis Pharmaceuticals UK Ltd) and rabbit anti-human thymocyte immunoglobulin (rATG) (Thymoglobulin(®), Sanofi) as induction therapy, and immediate-release tacrolimus (TAC) (Adoport(®), Sandoz; Capexion(®), Mylan; Modigraf(®), Astellas Pharma; Perixis(®), Accord Healthcare; Prograf(®), Astellas Pharma; Tacni(®), Teva; Vivadex(®), Dexcel Pharma), prolonged-release tacrolimus (Advagraf(®) Astellas Pharma), belatacept (BEL) (Nulojix(®), Bristol-Myers Squibb), mycophenolate mofetil (MMF) (Arzip(®), Zentiva; CellCept(®), Roche Products; Myfenax(®), Teva), mycophenolate sodium (MPS) (Myfortic(®), Novartis Pharmaceuticals UK Ltd), sirolimus (SRL) (Rapamune(®), Pfizer) and everolimus (EVL) (Certican(®), Novartis) as maintenance therapy in adult renal transplantation. METHODS Clinical effectiveness searches were conducted until 18 November 2014 in MEDLINE (via Ovid), EMBASE (via Ovid), Cochrane Central Register of Controlled Trials (via Wiley Online Library) and Web of Science (via ISI), Cochrane Database of Systematic Reviews, Database of Abstracts of Reviews of Effects and Health Technology Assessment (The Cochrane Library via Wiley Online Library) and Health Management Information Consortium (via Ovid). Cost-effectiveness searches were conducted until 18 November 2014 using a costs or economic literature search filter in MEDLINE (via Ovid), EMBASE (via Ovid), NHS Economic Evaluation Database (via Wiley Online Library), Web of Science (via ISI

  10. Barriers to kidney transplantation among adult Sudanese patients on maintenance hemodialysis in dialysis units in Khartoum state

    Directory of Open Access Journals (Sweden)

    Hisham H Abdelwahab

    2013-01-01

    Full Text Available Kidney transplantation remains the preferred modality of treatment for patients with end-stage renal disease. In Sudan, kidney transplantation accounted for 28% of the total provided renal replacement therapies. A cross-sectional, hospital-based study was conducted in hemodialysis (HD units in Khartoum State during the period from September 2010 to January 2011. It aimed to determine the main reasons for the currently low renal transplantation rate. Data were obtained by direct interviewing using a specifically pre-coded and pre-tested questionnaire following a pilot study. A total of 462 adult HD patients were randomly selected from the various HD units in Khartoum State; these patients accounted for 16.9% of the total HD population in Khartoum State. The mean age of the study patients was 48.5 ± 23.6 years and 312 (67.5% were males. Upon interviewing, only 316 patients (68.4% said that they had been counseled for kidney transplantation. One hundred and twenty-two patients (26.4% were on the active transplant list; of these, 50% preferred to have their kidney transplantation performed abroad, mostly due to the availability of commercial transplantation and/or a presumed better outcome. The low renal transplantation rate was due to financial constraints in 112 patients (24.2%, lack of medical fitness in 97 patients (21% and absence of a suitable kidney donor in 92 patients (20%, while 56 patients (12% were still having misperceptions regarding transplantation and preferred to continue on dialysis. To improve the kidney transplantation rate in Khartoum State, the Sudan program for organ transplantation is expected to take more initiatives to promote and improve the outcome of kidney transplants inside the country and, accordingly, regain the patients′ confidence on the health system.

  11. Providers' assessment of transition readiness among adolescent and young adult kidney transplant recipients.

    Science.gov (United States)

    Marchak, Jordan Gilleland; Reed-Knight, Bonney; Amaral, Sandra; Mee, Laura; Blount, Ronald L

    2015-12-01

    The Readiness for Transition Questionnaire- provider version (RTQ-Provider) was developed to evaluate adolescent patients' transition readiness and healthcare behaviors from the perspective of the healthcare provider. The RTQ-Provider is a parallel version of the RTQ-Teen and RTQ-Parent completed by patients and parents. This study seeks to evaluate the psychometric properties of the RTQ-Provider and its utility as a clinical transition planning tool. Participants consisted of 49 kidney transplant recipients between the ages of 15 and 21. The RTQ-Provider was completed by the pediatric nephrologist and psychologist from the multidisciplinary healthcare team and compared to RTQ data from teens and parents. The RTQ-Provider demonstrated good-to-excellent internal consistency and interrater reliability. Construct validity was supported through significant predictive relationships between providers' perceptions of transition readiness and older patient age, increased patient healthcare responsibility, and decreased parent involvement in health care. By providing parallel teen, parent, and provider forms, the RTQ has the potential to foster open communication between patients, families, and healthcare team members regarding transition readiness. The study provides initial support for the RTQ-Provider as a clinical tool to assess providers' perceptions of transition readiness; however, future longitudinal research is needed to evaluate predictive validity following patients' transfer to adult care. PMID:26508553

  12. Sepsis due to pyonephrosis: an adult with pelvic-ureteric junction obstruction (PUJO) in a duplex kidney.

    Science.gov (United States)

    Simoni, Francesco; Vitturi, Nicola

    2015-09-01

    We present the case of a 75-year-old woman with sepsis. She was evaluated with bedside ultrasound with a diagnosis of pyonephrosis, and subsequently underwent a TC scan that showed a pelvic-ureteric junction obstruction (PUJO) in a duplicated renal system. PUJO associated with duplex kidney, while relatively frequent in children, is a rare condition in adults, and may lead to severe complications as in this case. PMID:26261472

  13. Elevated Serum Leptin, Adiponectin and Leptin to Adiponectin Ratio Is Associated with Chronic Kidney Disease in Asian Adults

    OpenAIRE

    Cynthia Ciwei Lim; Boon Wee Teo; Shyong Tai, E.; Su Chi Lim; Choong Meng Chan; Sunil Sethi; Tien Y Wong; Charumathi Sabanayagam

    2015-01-01

    Background Adiponectin and leptin, two of the key cytokines secreted by adipocytes, have been shown to be associated with cardiovascular disease. However, the association of these adipocytokines with chronic kidney disease (CKD) is not clear. We examined the association of serum adiponectin, leptin levels and leptin to adiponectin ratio (LAR) with CKD in a population-based sample of Asian adults. Methods We conducted a case-control study (450 CKD cases and 920 controls matched for age, sex an...

  14. Aspectos clínicos da doença renal policística autossômica recessiva DRPAR Clinical aspects of autosomal recessive polycystic kidney disease

    Directory of Open Access Journals (Sweden)

    Natasha Favoretto Dias

    2010-09-01

    Full Text Available INTRODUÇÃO: A Doença Renal Policística Autossômica Recessiva (DRPAR é uma causa importante de morbidade e mortalidade pediátricas, com um espectro variável de manifestações clínicas. MÉTODOS: A apresentação e evolução clínica de 25 pacientes (Pts foram analisadas através da revisão de prontuários, aplicando-se os formulários propostos por Guay-Woodford et al. As morbidades associadas à doença foram avaliadas quanto à frequência e à idade de manifestação. RESULTADOS: A idade média de diagnóstico foi de 61,45 meses (0 a 336,5 meses, com distribuição similar entre os sexos (52% dos pts do sexo feminino. Houve histórico familiar da doença em 20% dos casos (5/25, com dois casos de consanguinidade. Na análise inicial, diagnosticou-se hipertensão arterial (HAS em 56% dos Pts (14/25; doença renal crônica estágio > 2 (DRC > 2 em 24% (6/25; infecções do trato urinário (ITU em 40% (10/25 e hipertensão portal (HP em 32% dos casos (8/25. Das ultrassonografias abdominais iniciais, 80% demonstraram rins ecogênicos com cistos grosseiros e 64% detectaram fígado e vias biliares normais. Inibidores da ECA foram utilizados em 36% dos Pts, betabloqueadores em 20%, bloqueadores de canais de cálcio em 28% e diuréticos em 36% dos casos. Na análise final, após um tempo de acompanhamento médio de 152,2 meses (29,8 a 274,9 meses, HAS foi diagnosticada em 76% dos Pts, DRC > 2 em 44%, ITU em 52% e HP em 68%. CONCLUSÃO: As altas morbidade e mortalidade associadas à DRPAR justificam a construção de um banco de dados internacional, visando ao estabelecimento de um tratamento de suporte precoce.INTRODUCTION: Autosomal Recessive Polycystic Kidney Disease (ARPKD is an important pediatric cause of morbidity and mortality, with a variable clinical spectrum. METHODS: The clinical presentation and evolution of 25 patients (Pts were analyzed by clinical record review, according to the forms proposed by Guay-Woodford et al

  15. 补肾调周法联合饮食生活方式干预对多囊卵巢综合征治疗的研究%Clinical Observation on Invigorating Kidney and Regulating Menstruation Cycles Method Combined with Lifestyle Improvements Study on Clinical Treatment of Polycystic Ovary Syndrome

    Institute of Scientific and Technical Information of China (English)

    管蓬蓬; 周惠芳

    2013-01-01

    多囊卵巢综合征(polycystic ovary syndrome,PCOS)是生育年龄妇女常见的一种复杂的内分泌及代谢异常所致的疾病,以慢性无排卵(排卵功能紊乱或丧失)和高雄激素血症(妇女体内男性激素产生过剩)为特征,主要临床表现为月经周期不规律、不孕、多毛和或痤疮,是最常见的女性内分泌疾病.其发病原因较多,包括中医认为的肾虚、痰湿、肝郁等均可导致PCOS.中药补肾调周和改善饮食生活方式及中西医结合等治疗该病取得了一定的疗效.%Polycystic ovary syndrome is a common endocrine and metabolic abnormality of reproductive age women,which is characterized with chronic anovulatory (ovulation dysfunction or loss)and high androgen hematic disease (male hormones in women produce excess).The major clinical manifestations include irregular menstrual cycle,fertility,hairy and/or acne.It is the most common female endocrine disorder.Its etiology is complex.TCM thinks kidney deficiency,phlegm-damp and liver depression can lead to PCOS.Chinese medicine for invigorating kidney and regulating menstruation cycles method combined with lifestyle improvements and combine traditional Chinese and western medicine treatment of the disease has made certain curative effect.

  16. Prevalence and pattern of cystic kidney diseases in Ilorin, Nigeria

    Directory of Open Access Journals (Sweden)

    Chijioke Adindu

    2010-01-01

    Full Text Available Cystic kidney disease is an important cause of chronic renal failure. Since the utili-zation of imaging techniques in the diagnosis of diseases has become widespread, cystic kidney disease is now being increasingly diagnosed. This study is designed to determine the prevalence and pattern of cystic kidney disease at the Nephrology Unit of University of Ilorin Teaching Hospital (UITH, Ilorin. All consecutive adult patients seen in the Nephrology Unit of UITH during a ten-year period (January 1999-December 2008 were studied for the presence of cystic kidney disease. The results were analyzed with specific reference to age, gender, annual inci-dence, type of cystic disease, location of cyst, mode of presentation, complications and prognosis. A total of 67 out of 436 renal patients (15.4% studied had cystic kidney disease. A progressive annual increase in the number of cases was noticed. The age-range was 20-83 years with a mean of 47.4 +/- 16.2 years and the peak incidence was in the third and sixth decades with male to female ratio of 1.3:1. The types of cystic kidney disease identified in the study were: 26 simple cysts (38.8%, 35 polycystic kidney disease (53.3% and six multicystic kidney disease (8.9%. The most common mode of presentation was abdominal pain followed by hypertension, urinary tract infection, chronic renal failure and palpable abdominal mass, in decreasing order. Our study indicates that cystic kidney disease is not an uncommon problem among our renal patients and the incidence is on the increase. Although, routine screening of family members with cystic kidney disease still remains a contentious issue because the knowledge may evoke anxiety in terms of employment and insurance, screening of symptomatic cases or those that develop hypertension, hematuria and proteinuria is strongly recommended.

  17. Renal (Kidney) Manifestations in TSC

    Medline Plus

    Full Text Available ... and Urology Foundation: www.kidneyurology.org Polycystic Kidney Disease Foundation: www.pkdcure.org Reviewed and updated by Elizabeth Petri Henske, M.D., Brigham and Women's Hospital, Harvard Medical School and Dana Farber Cancer Institute, Boston, MA, John J. Bissler, M. ...

  18. Polycystic ovarian syndrome

    OpenAIRE

    Nina Madnani; Kaleem Khan; Phulrenu Chauhan; Girish Parmar

    2013-01-01

    Polycystic ovarian syndrome (PCOS) is a "multispeciality" disorder suspected in patients with irregular menses and clinical signs of hyperandrogenism such as acne, seborrhoea, hirsutism, irregular menses, infertility, and alopecia. Recently, PCOS has been associated with the metabolic syndrome. Patients may develop obesity, insulin resistance, acanthosis nigricans, Type 2 diabetes, dyslipidemias, hypertension, non-alcoholic liver disease, and obstructive sleep apnoea. Good clinical examinatio...

  19. The effects of pomegranate extract on normal adult rat kidney: A stereological study.

    Science.gov (United States)

    Mansouri, Esrafil; Basgen, John; Saremy, Sadegh

    2016-01-01

    Pomegranate (Punica granatum L.) has been used widely in the traditional medicine of various civilizations for more than 5000 years. The pomegranate tree has several parts; each part has useful medicinal effects. Previous studies have demonstrated the antibacterial, antioxidant, and anti-inflammatory properties of pomegranate. The aim of the present study was to determine whether administration of pomegranate extract could result in morphometric changes in the kidneys of rats. Eighteen male rats (180-200 g) were divided into three groups that received either: G1, distilled water; G2, 250 mg kg(-1) pomegranate extract; and G3, 500 mg kg(-1) pomegranate extract via oral gavages daily for eight weeks. At the end of eight weeks, the rats were euthanized and their kidneys were removed and processed for morphometric analyses. In rats received pomegranate extract, the kidney weight, kidney weight/body weight ratio, cortex v/lume and glomerular volume were increased (p < 0.05), while, medulla volume and the number of glomeruli per kidney did not change. No pathological lesions were observed in the kidney. Therefore, pomegranate hydro-alcoholic extract at doses of 250 and 500 (mg kg(-1)) increased the volume of some parts of the kidney; however, it did not cause any pathological changes in the kidney. PMID:27226880

  20. Acute Lymphoblastic Leukemia in a Young Adult Presenting as Hepatitis and Acute Kidney Injury

    Science.gov (United States)

    Heincelman, Marc; Karakala, Nithin; Rockey, Don C.

    2016-01-01

    Acute lymphoblastic leukemia (ALL) in adults is a relatively rare malignancy. The typical presentation includes signs and symptoms associated with bone marrow failure, including fevers, infections, fatigue, and excessive bruising. In this article, we report an unusual systemic presentation of ALL in a previously healthy 18-year-old man. He initially presented with several-day history of nausea and vomiting, 10-pound weight loss, and right upper quadrant abdominal pain with evidence of acute hepatocellular liver injury (elevations in aspartate aminotransferase/alanine aminotransferase) and elevation in serum creatinine. Further history revealed that he just joined the Marine Corp; in preparation, he had been lifting weights and taking protein and creatine supplements. A complete serological evaluation for liver disease was negative and creatine phosphokinase was normal. His aspartate aminotransferase and alanine aminotransferase declined, and he was discharged with expected improvement. However, he returned one week later with continued symptoms and greater elevation of aminotransferases. Liver biopsy was nondiagnostic, revealing scattered portal and lobular inflammatory cells (primarily lymphocytes) felt to be consistent with drug-induced liver injury or viral hepatitis. Given his elevated creatinine, unresponsive to aggressive volume expansion, a kidney biopsy was performed, revealing normal histology. He subsequently developed an extensive left lower extremity deep venous thrombosis. Given his deep venous thrombosis, his peripheral blood was sent for flow cytometry, which revealed lymphoblasts. Bone marrow biopsy revealed 78% blasts with markers consistent with acute B-cell lymphoblastic leukemia. This report emphasizes that right upper quadrant abdominal pain with liver test abnormalities may be the initial presentation of a systemic illness such as ALL.

  1. Association Between Prescription Opioid Use and Biomarkers of Kidney Disease in US Adults

    Directory of Open Access Journals (Sweden)

    Celestina Barbosa-Leiker

    2016-06-01

    Full Text Available Background/Aims: Prescription opioid use is increasing despite concerns about drug safety. We examined relationships between use of analgesics with biomarkers of chronic kidney disease (CKD in a representative sample of adults in the United States (US. Methods: Participants (n=3980 were from the National Health and Nutrition Examination Survey (NHANES 2009-2010. Use of any analgesic, prescription opioids, and NSAIDs were compared to referent groups with use of non-analgesic prescription medication or use of no prescription medication. CKD biomarkers including urine albumin-to-creatinine ratio (UACR and serum-creatinine-based estimated glomerular filtration rate (eGFR; CKD Epidemiology Collaboration: CKD-EPI equation were analyzed as continuous and binary variables (UACR ≥30 mg/g or eGFR 2; median splits. Results: Frequencies of use were: any prescription analgesic 12.7% (507/3980; prescription opioids 5.1% (204/3980; NSAIDs 5.6% (224/3980; non-analgesic medication 38.7% (1540/3980; no medication 48.6% (1933/3980. Prescription analgesic use (β=0.17, p=0.021 and opioid use (β=0.19, p=0.002 were associated with higher UACR values, while NSAID use was not (β=0.17, p=0.105. Prescription analgesic use was related to UACR ≥5.98 mg/g (median, (OR=1.34, 95%CI=1.01-7.79, p=0.045. No type of analgesic use was related to CKD-EPI eGFR. Conclusion: In a representative US population, prescription opioid use associated with higher albuminuria levels compared to non-opioid-users.

  2. Liver transplantation in polycystic liver disease

    DEFF Research Database (Denmark)

    Krohn, Paul S; Hillingsø, Jens; Kirkegaard, Preben

    2008-01-01

    OBJECTIVE: Polycystic liver disease (PLD) is a rare, hereditary, benign disorder. Hepatic failure is uncommon and symptoms are caused by mass effects leading to abdominal distension and pain. Liver transplantation (LTX) offers fully curative treatment, but there is still some controversy about...... whether it is a relevant modality considering the absence of liver failure, relative organ shortage, perioperative risks and lifelong immunosuppression. The purpose of this study was to review our experience of LTX for PLD and to compare the survival with the overall survival of patients who underwent LTX....../kidney transplantation. One patient had undergone kidney transplantation 10 years earlier. RESULTS: Median follow-up was 55 months. One patient who underwent combined transplantation died after 5.4 months because of multiorgan failure after re-LTX, and one patient, with well-functioning grafts, died of lymphoma after 7...

  3. 中药补肾调周法对肾阳虚型多囊卵巢综合征患者血清瘦素的影响%Effect of Tonifying Kidney with Traditional Chinese Medicine on Serum Leptin Levels in Patients with Polycystic Ovarian Syndrome

    Institute of Scientific and Technical Information of China (English)

    寇光; 尹绢; 邱元芝; 汤韶明

    2014-01-01

    目的:探讨石英毓麟汤补肾调周法配合戊酸雌二醇片和氯菧酚胺治疗多囊卵巢综合征(polycystic ovarian syndrome,PCOS)的疗效及对患者血清瘦素的影响。方法208例PCOS患者随机分为观察组104例和对照组104例。对照组服用雌二醇片和氯菧酚胺,观察组在对照组的基础上加服石英毓麟汤补,累计3个周期;对患者的多毛,测定基础体温,座疮和月经异常情况进行了记录;采用酶联免疫法检测血清瘦素(leptin,LP)和促卵泡生成激素(follicle stimulating hormone,FSH),促黄体生成激素(luteinizing hormone,LH),泌乳素(prolactin,PRL),雌二醇(estradiol,E 2),睾酮(testosterone,T)五种内分泌激素含量。结果采用西药和中药补肾调周法治疗后的患者月经异常﹑痤疮﹑多毛﹑单相测定基础体温情况比治疗前明显改善;两组患者的FSH,LH,PRL,E 2,T均有所降低,而观察组患者的FSH和PRL均高于对照组,LH,T和E2水平均低于对照组。结论中药补肾调周法治疗PCOS能显著降低FSH,LH,PRL,E 2,T和LP水平。相较于单纯使用西药,中药补肾调周法优于单纯使用西药治疗。%Objective To explore the effect of tonifying kidney with traditional Chinese medicine together with estradiol valerate and clomiphene citrate on serum leptin levels in patients with polycystic ovarian syndrome. Method Two hundred and eight patients with PCOS were randomly divided into observation group (n=104) and control group (n=104). Patients in control group and observation group took estradiol valerate and clomiphene citrate, while patients in observation group took Shiying Minlin soup for three months. Crinosity, body temperature, acne&Skin diseases, and menoxenia were recorded; Leptin (LP) and five hormone including follicle stimulating hormone (FSH),luteinizing hormone (LH), prolactin (PRL), estradiol (E 2) and testosterone (T) are determined using euzymelinked immunosorbent

  4. Medical nutrition therapy in adults with chronic kidney disease: integrating evidence and consensus into practice for the generalist registered dietitian nutritionist.

    Science.gov (United States)

    Beto, Judith A; Ramirez, Wendy E; Bansal, Vinod K

    2014-07-01

    Chronic kidney disease is classified in stages 1 to 5 by the National Kidney Foundation's Kidney Disease Outcomes Quality Initiative depending on the level of renal function by glomerular filtration rate and, more recently, using further categorization depending on the level of glomerular filtration rate and albuminuria by the Kidney Disease Improving Global Outcomes initiative. Registered dietitian nutritionists can be reimbursed for medical nutrition therapy in chronic kidney disease stages 3 to 4 for specific clients under Center for Medicare and Medicaid Services coverage. This predialysis medical nutrition therapy counseling has been shown to both potentially delay progression to stage 5 (renal replacement therapy) and decrease first-year mortality after initiation of hemodialysis. The Joint Standards Task Force of the American Dietetic Association (now the Academy of Nutrition and Dietetics), the Renal Nutrition Dietetic Practice Group, and the National Kidney Foundation Council on Renal Nutrition collaboratively published 2009 Standards of Practice and Standards of Professional Performance for generalist, specialty, and advanced practice registered dietitian nutritionists in nephrology care. The purpose of this article is to provide an update on current recommendations for screening, diagnosis, and treatment of adults with chronic kidney disease for application in clinical practice for the generalist registered dietitian nutritionist using the evidence-based library of the Academy of Nutrition and Dietetics, published clinical practice guidelines (ie, National Kidney Foundation Council on Renal Nutrition, Renal Nutrition Dietetic Practice Group, Kidney Disease Outcomes Quality Initiative, and Kidney Disease Improving Global Outcomes), the Nutrition Care Process model, and peer-reviewed literature.

  5. Progress in non-renal derived adult stem cell therapy for kidney disease%非肾脏来源的成体干细胞移植治疗肾脏疾病的进展

    Institute of Scientific and Technical Information of China (English)

    陶于洪; 汪瑜; 王亚妹

    2013-01-01

    该文将着重探讨非肾脏来源的成体干细胞移植在治疗肾脏疾病中的研究进展.尽管骨髓造血干细胞(hematopietic stem cell,HSC)移植治疗肾脏疾病的机制存在争议,但是研究表明骨髓HSC能促进肾脏缺血再灌注损伤、IgA肾病和狼疮性肾炎等肾脏疾病的修复.间充质干细胞能归巢到受损肾脏,并通过旁分泌/自分泌机制,分泌细胞因子和释放微泡,发挥激活肾内细胞、促进血管生成、抑制氧化应激、抗凋亡、抗炎和抗纤维化等效应.成纤维细胞、系膜细胞、肾小管上皮细胞和尿液上皮细胞均可重编程为诱导多能干细胞,并通过诱导分化成特定类型的肾脏细胞.诱导肾脏疾病特异的多能干细胞为解决肾脏移植中肾源不足和治疗肾脏疾病(如糖尿病肾病和常染色体显性遗传性多囊肾病等遗传性肾脏疾病),提供了新的方法.%This review focuses on the current literatures on the therapeutic potential of non-renal derived adult stem cell transplantation for kidney disease.Although the therapeutic mechanism remains debatable,some reports suggest that hematopoietic stem cell transplantation holds potential for treatment of renal diseases such as renal ischemia reperfusion injury,IgA nephropathy and lupus nephritis.Mesenchymal stem cell(MSC) are capable of homing to injured kidney and contribute to activate intrinsic kidney cells,promote angiogenesis,inhibit oxidative stress and reduce apoptosis,inflammation and renal fibrosis.These renoprotective effects are likely mediated by paracrine/autocrine mechanism via cytokine and microvesicles from MSC.Pluripotent stem cells may be induced from fibroblast,mesangial cells,renal tubular epithelial cell and urine epithelial cell.Induced pluripotent stem cell(iPSC) can differentiate into renal lineage cells.The derivation of kidney disease-specific iPSC opens new avenues for the resolution to limited donor availability in kidney transplantation and

  6. Effects of aluminum sulfate on delta-aminolevulinate dehydratase from kidney, brain, and liver of adult mice

    Directory of Open Access Journals (Sweden)

    Schetinger M.R.C.

    1999-01-01

    Full Text Available The purpose of the present study was to investigate the in vitro and in vivo effects of aluminum sulfate on delta-aminolevulinic acid dehydratase (ALA-D activity from the brain, liver and kidney of adult mice (Swiss albine. In vitro experiments showed that the aluminum sulfate concentration needed to inhibit the enzyme activity was 1.0-5.0 mM (N = 3 in brain, 4.0-5.0 mM (N = 3 in liver and 0.0-5.0 mM (N = 3 in kidney. The in vivo experiments were performed on three groups for one month: 1 control animals (N = 8; 2 animals treated with 1 g% (34 mM sodium citrate (N = 8 and 3 animals treated with 1 g% (34 mM sodium citrate plus 3.3 g% (49.5 mM aluminum sulfate (N = 8. Exposure to aluminum sulfate in drinking water inhibited ALA-D activity in kidney (23.3 ± 3.7%, mean ± SEM, P<0.05 compared to control, but enhanced it in liver (31.2 ± 15.0%, mean ± SEM, P<0.05. The concentrations of aluminum in the brain, liver and kidney of adult mice were determined by graphite furnace atomic absorption spectrometry. The aluminum concentrations increased significantly in the liver (527 ± 3.9%, mean ± SEM, P<0.05 and kidney (283 ± 1.7%, mean ± SEM, P<0.05 but did not change in the brain of aluminum-exposed mice. One of the most important and striking observations was the increase in hepatic aluminum concentration in the mice treated only with 1 g% sodium citrate (34 mM (217 ± 1.5%, mean ± SEM, P<0.05 compared to control. These results show that aluminum interferes with delta-aminolevulinate dehydratase activity in vitro and in vivo. The accumulation of this element was in the order: liver > kidney > brain. Furthermore, aluminum had only inhibitory properties in vitro, while in vivo it inhibited or stimulated the enzyme depending on the organ studied.

  7. Associação entre aneurismas de aorta abdominal infrarrenal e doença renal policística autossômica dominante: relato de caso Association between infrarenal abdominal aortic aneurysm and autosomal dominant polycystic kidney disease: a case report

    Directory of Open Access Journals (Sweden)

    Milton Alves das Neves Junior

    2009-06-01

    Full Text Available A doença renal policística dominante é uma das doenças renais hereditárias mais comuns, podendo apresentar manifestações extrarrenais vasculares de importância clínica, como aneurismas intracranianos, aneurismas aórticos e dissecções arteriais. Relatamos o caso de um paciente masculino, com 66 anos de idade, renal crônico não-dialítico por doença renal policística dominante, com aneurisma de aorta abdominal infrarrenal assintomático, diagnosticado por ultrassonografia de rotina e operado eletivamente com sucesso. A doença renal policística dominante é uma síndrome genética, associada aos genes PDK1 e PDK2 no cromossomo 16. A expressão desses genes na parede dos vasos leva ao seu enfraquecimento, favorecendo a formação de aneurismas. A produção de metaloproteinases pelos túbulos renais também estaria relacionada às doenças vasculares desses pacientes. Tais doenças se apresentam como importantes fatores de mortalidade precoce e morbidade dos portadores de doença renal policística dominante e, como usualmente são assintomáticas, justifica-se o uso de propedêutica armada e tratamento precoce.Autosomal dominant polycystic kidney disease (ADPKD is one of the most common hereditary renal diseases, which may present important clinical extrarenal vascular manifestations, such as intracranial and aortic aneurysms and artery dissections. We report the case of a 66-year-old male chronic renal out-of-dialysis patient, with dominant polycystic kidney disease, presenting an asymptomatic infrarenal abdominal aortic aneurysm diagnosed by routine ultrasonography, submitted to successful elective surgery. ADPKD is a genetic syndrome, associated with PDK1 and PDK2 genes on chromosome 16. The expression of these genes in the vessel walls leads to vessel wall weakening, favoring aneurysm formation. In addition, metalloproteinase production by kidney tubules could be related to vascular diseases in ADPKD patients. These are

  8. Elevated serum leptin, adiponectin and leptin to adiponectin ratio is associated with chronic kidney disease in Asian adults.

    Directory of Open Access Journals (Sweden)

    Cynthia Ciwei Lim

    Full Text Available Adiponectin and leptin, two of the key cytokines secreted by adipocytes, have been shown to be associated with cardiovascular disease. However, the association of these adipocytokines with chronic kidney disease (CKD is not clear. We examined the association of serum adiponectin, leptin levels and leptin to adiponectin ratio (LAR with CKD in a population-based sample of Asian adults.We conducted a case-control study (450 CKD cases and 920 controls matched for age, sex and ethnicity involving Chinese and Indian adults aged 40-80 years who participated in the Singapore Epidemiology of Eye Diseases Study (2007-2011. CKD was defined as an estimated glomerular filtration rate 0.1.Higher levels of serum adiponectin, leptin and LAR were positively associated with CKD independent of traditional risk factors in this Asian population.

  9. Detection of PKD1 mutations in autosomal dominant polycystic kidney disease by Ion Torrent semiconductor sequencing%应用Ion Torrent半导体测序技术检测常染色体显性多囊肾患者PKD1基因致病突变

    Institute of Scientific and Technical Information of China (English)

    马定远; 胡平; 罗春玉; 张菁菁; 成建; 王玉国; 蒋涛; 许争峰

    2015-01-01

    目的 基于Ion Torrent半导体测序技术建立常染色体显性多囊肾患者PKD1基因致病突变检测方法并评价其临床应用价值.方法 遗传病分子诊断.收集2013年7月至2014年8月在南京市妇幼保健院就诊的多囊肾患者5例,提取外周血DNA,采用9个长链PCR反应特异性扩增PKD1基因全部编码区,PCR产物混合后进行酶切,经模板制备、乳液PCR和磁珠颗粒富集,应用Ion Torrent个体化基因组测序仪进行PKD1基因测序,对发现的致病突变通过Sanger测序验证.结果 应用Ion Torrent半导体测序技术检测到4例患者存在PKD1基因致病突变,分别为外显子12微小缺失突变(c.2966_2970delCGGCG),外显子15微小缺失突变(c.5014_5015delAG),内含子23剪接位点突变(c.8972-2A> G),外显子36错义突变(c.10675G> A).结论 基于长链PCR技术和Ion Torrent 半导体测序技术,建立了常染色体显性多囊肾病基因诊断方法,该方法能够特异性检测PKD1基因致病突变,具有较高的临床应用价值.%Objective To develop and validate a method for detectiug PKD1 mutations in autosomal dominant polycystic kidney disease by Ion Torrent semiconductor sequencing.Methods Molecular diagnosis of genetic diseases.Five Chinese patients with polycystic kidney disease were recruited frown Nanjing Maternity and Child Health Care Hospital for genetic counseling from July 2013 to August 2014.Peripheral blood samples were collected for DNA analysis.The entire PKD1 coding region was amplified by nine long-range PCR reactions.Pooled amplicons from individual patients were sheared to short fragments using fragmentase.After template preparation,emulsion PCR,and ion sphere particles enrichment,the barcoded libraries were subsequently sequenced using the Ion Torrent sequencer.Candidate variants were validated by Sanger sequencing.Results By using the targeted Ion Torrent sequencing method,four PKD1 mutations were identified from 4 patients,including c.2966

  10. Nonhuman primate models of polycystic ovary syndrome.

    Science.gov (United States)

    Abbott, David H; Nicol, Lindsey E; Levine, Jon E; Xu, Ning; Goodarzi, Mark O; Dumesic, Daniel A

    2013-07-01

    With close genomic and phenotypic similarity to humans, nonhuman primate models provide comprehensive epigenetic mimics of polycystic ovary syndrome (PCOS), suggesting early life targeting for prevention. Fetal exposure to testosterone (T), of all nonhuman primate emulations, provides the closest PCOS-like phenotypes, with early-to-mid gestation T-exposed female rhesus monkeys exhibiting adult reproductive, endocrinological and metabolic dysfunctional traits that are co-pathologies of PCOS. Late gestational T exposure, while inducing adult ovarian hyperandrogenism and menstrual abnormalities, has less dysfunctional metabolic accompaniment. Fetal exposures to dihydrotestosterone (DHT) or diethylstilbestrol (DES) suggest androgenic and estrogenic aspects of fetal programming. Neonatal exposure to T produces no PCOS-like outcome, while continuous T treatment of juvenile females causes precocious weight gain and early menarche (high T), or high LH and weight gain (moderate T). Acute T exposure of adult females generates polyfollicular ovaries, while chronic T exposure induces subtle menstrual irregularities without metabolic dysfunction.

  11. Urinary polyaromatic hydrocarbons are associated with adult celiac disease and kidney stones: USA NHANES, 2011-2012.

    Science.gov (United States)

    Shiue, Ivy

    2016-02-01

    Links between environmental chemicals and human health have emerged over the last few decades, but the effects from polyaromatic hydrocarbons (PAH) were less studied, compared to other commonly known environmental chemicals such as heavy metals, phthalates, arsenic, phenols, and pesticides. Therefore, it was aimed to study the relationships of urinary PAH and adult digestive conditions using a large human sample in a national and population-based study in recent years. Data was retrieved from the US National Health and Nutrition Examination Surveys, 2011-2012 including demographics, self-reported health conditions, and urinary PAH. Statistical analyses included chi-square test, t test, survey-weighted logistic regression modeling, and population attributable risk (PAR) estimation. Of 5560 American adults aged 20-80 and included in the statistical analysis, urinary 4-hydroxyphenanthrene was significantly associated with celiac disease (odds ratio (OR) 1.61, 95% confidence interval (CI) 1.14-2.26, P = 0.009). In addition, urinary 2-hydroxyfluorene (OR 1.35, 95% CI 1.02-1.78, P = 0.038), 3-hydroxyfluorene (OR 1.35, 95% CI 1.07-1.70, P = 0.015), 1-hydroxyphenanthrene (OR 1.48, 95% CI 1.08-2.03, P = 0.017), 1-hydroxypyrene (OR 1.36, 95% CI 1.05-1.77, P = 0.023), and 2-hydroxynapthalene (OR 1.25, 95% CI 1.00-1.58, P = 0.054) were significantly associated with kidney stones, although not necessarily failing kidney. There were no statistically significant associations observed in the relationship of urinary PAH and liver problems, although higher levels of PAHs were observed. Urinary PAHs are associated with adult digestive conditions, although the causality cannot be established. From the research perspective, longitudinal monitoring from observational studies and experimental research understanding mechanism would be suggested. Regulation of minimizing PAHs exposure might need to be considered in future health and environmental policies. PMID:26728287

  12. Polycystic Thyroid Disease in Pediatric Patients: An Uncommon Cause of Hypothyroidism.

    Science.gov (United States)

    Naranjo, Isaac Daimiel; Robinot, David Coca; Rojo, Jaime Cruz; Ponferrada, Miguel Rasero

    2016-01-01

    Polycystic thyroid disease has been described as a rare cause of hypothyroidism. This uncommon entity has been reported in adults within areas with high iodine intake. Sonographic findings of multiple small thin-walled simple thyroid cysts in the context of hypothyroidism without thyroid autoantibodies are highly suggestive of this diagnosis. To our knowledge, we report the first 2 cases of polycystic thyroid disease in pediatric patients in Europe.

  13. Kidney Failure

    Science.gov (United States)

    ... Health Information > Health Communication Programs > National Kidney Disease Education Program > Learn About Kidney Disease > Living With Kidney Disease > Kidney Failure | Share External Link Disclaimer Living With Kidney Disease ...

  14. Social support of adults and elderly with chronic kidney disease on dialysis

    Science.gov (United States)

    da Silva, Simone Márcia; Braido, Natalia Fernanda; Ottaviani, Ana Carolina; Gesualdo, Gabriela Dutra; Zazzetta, Marisa Silvana; Orlandi, Fabiana de Souza

    2016-01-01

    ABSTRACT Objective: to evaluate the instrumental and emotional social support of patients with chronic kidney disease on hemodialysis. Method: descriptive cross-sectional study. The sample was sized for convenience and included 103 participants under treatment in a Renal Replacement Therapy Unit. Data were collected through individual interviews, using the Social Support Scale. Results: the mean scores of the emotional and instrumental social support were 3.92 (± 0.78) and 3.81 (± 0.69) respectively, an indication of good support received. The most frequent sources of instrumental and emotional social support mentioned by participants were partners, spouse, companion or boyfriend and friends. Conclusion: patients with chronic kidney disease have high social support, both instrumental and emotional, and the main support comes from the family. PMID:27508920

  15. The effects of pomegranate extract on normal adult rat kidney: A stereological study

    OpenAIRE

    Mansouri, Esrafil; Basgen, John; Saremy, Sadegh

    2016-01-01

    Pomegranate (Punica granatum L.) has been used widely in the traditional medicine of various civilizations for more than 5000 years. The pomegranate tree has several parts; each part has useful medicinal effects. Previous studies have demonstrated the antibacterial, antioxidant, and anti-inflammatory properties of pomegranate. The aim of the present study was to determine whether administration of pomegranate extract could result in morphometric changes in the kidneys of rats. Eighteen male r...

  16. 中药温肾涤痰法为基础配合中药周期疗法治疗多囊卵巢综合征所致不孕%Traditional Chinese Medicine Warming Kidney and Removing Phlegm Method Based on Traditional Chinese Medicine Therapy Treatment of ;Infertility Due to Polycystic Ovary Syndrome

    Institute of Scientific and Technical Information of China (English)

    周睿

    2016-01-01

    Objective:To observe the effect of traditional Chinese medicine treatment of infertility caused by polycystic ovary syndrome with traditional Chinese medicine on the basis of traditional Chinese medicine therapy.Method:80 cases of infertility caused by polycystic ovary syndrome were randomly divided into observation group(n=45) and control group(n=35),respectively with Chinese herbal medicine for warming kidney phlegm based cycle therapy combined with traditional Chinese medicine the treatment and Western medicine treatment,compared two groups before and after the treatment of sex hormone level and clinical curative effect.Result:After treatment,the two groups FSH,LH,PRL,E2,T than before treatment were significantly changed(P<0.05),and the observation group after treatment,the changes of the above indicators were greater than the control group(P<0.05).The observation group ovulation cycle the rate(51.1%) was significantly higher than the control group(34.3%)(P<0.05).The patients in the observation group the pregnancy rate(37.8%) was significantly higher than the control group(22.9%)(P<0.05).After 3 months,the total efficiency of the observation group(93.3%) was significantly higher than the control group(77.1%)(P<0.05). Conclusion:The treatment of infertility caused by polycystic ovary syndrome by using the method of warming kidney and removing phlegm and removing phlegm, which can regulate the level of sex hormones,improve the endocrine environment,improve pregnancy rate,has a good clinical application value.%目的:观察以中药温肾涤痰法为基础配合中药周期疗法治疗多囊卵巢综合征所致不孕的效果。方法:将80例多囊卵巢综合征所致不孕患者随机分为观察组(n=45)和对照组(n=35),分别采用以中药温肾涤痰法为基础配合中药周期疗法进行治疗和西药治疗,比较两组治疗前后性激素水平和临床效果。结果:治疗后两组FSH、LH、PRL、E2、T较

  17. Polycystic ovary syndrome.

    Science.gov (United States)

    Azziz, Ricardo; Carmina, Enrico; Chen, ZiJiang; Dunaif, Andrea; Laven, Joop S E; Legro, Richard S; Lizneva, Daria; Natterson-Horowtiz, Barbara; Teede, Helena J; Yildiz, Bulent O

    2016-01-01

    Polycystic ovary syndrome (PCOS) affects 5-20% of women of reproductive age worldwide. The condition is characterized by hyperandrogenism, ovulatory dysfunction and polycystic ovarian morphology (PCOM) - with excessive androgen production by the ovaries being a key feature of PCOS. Metabolic dysfunction characterized by insulin resistance and compensatory hyperinsulinaemia is evident in the vast majority of affected individuals. PCOS increases the risk for type 2 diabetes mellitus, gestational diabetes and other pregnancy-related complications, venous thromboembolism, cerebrovascular and cardiovascular events and endometrial cancer. PCOS is a diagnosis of exclusion, based primarily on the presence of hyperandrogenism, ovulatory dysfunction and PCOM. Treatment should be tailored to the complaints and needs of the patient and involves targeting metabolic abnormalities through lifestyle changes, medication and potentially surgery for the prevention and management of excess weight, androgen suppression and/or blockade, endometrial protection, reproductive therapy and the detection and treatment of psychological features. This Primer summarizes the current state of knowledge regarding the epidemiology, mechanisms and pathophysiology, diagnosis, screening and prevention, management and future investigational directions of the disorder.

  18. [Polycystic ovary syndrome].

    Science.gov (United States)

    Vrbíková, Jana

    2015-10-01

    For diagnosing of polycystic ovary syndrome (PCOS) it is currently recommended to follow the ESHRE criteria. For diagnosis according to them two of the following three symptoms are sufficient: 1. morphology of polycystic ovaria, 2. clinical manifestations of hyperandrogenism or laboratory proof of hyperandrogenemia, and 3. oligo-anovulation. PCOS is a complex disorder in whose pathogenesis genetic and environmental effects interact. It is not a gynecological disorder alone, the syndrome is accompanied by insulin resistance which leads to increased incidence of type 2 diabetes mellitus and impaired glucose tolerance (4 times and twice, independently of BMI). Also gestational DM occurs more frequently. Dyslipidemia, arterial hypertension, elevated CRP and homocysteine levels, endothelial dysfunction and greater intima-media thickness are also more frequent. It is not quite clear, however, whether women with PCOS suffer cardiovascular events more frequently as well. More often than is accidental PCOS is associated with depression, anxiety and eating disorders, further with nonalcoholic steatohepatitis and with the sleep apnoea syndrome - especially in obese women. Therapeutic measures include non-pharmacological methods - lifestyle adjustments focused on weight reduction in obese individuals, cosmetic measures for dermatologic manifestation of hyperandrogenism, in particular laser and pharmacotherapy (combined hormonal contraceptives and antiandrogens). Menstrual irregularities can be treated with contraceptives or cyclical administration of gestagens, also metformin can be used. PMID:26486483

  19. Polycystic ovary syndrome.

    Science.gov (United States)

    Azziz, Ricardo; Carmina, Enrico; Chen, ZiJiang; Dunaif, Andrea; Laven, Joop S E; Legro, Richard S; Lizneva, Daria; Natterson-Horowtiz, Barbara; Teede, Helena J; Yildiz, Bulent O

    2016-01-01

    Polycystic ovary syndrome (PCOS) affects 5-20% of women of reproductive age worldwide. The condition is characterized by hyperandrogenism, ovulatory dysfunction and polycystic ovarian morphology (PCOM) - with excessive androgen production by the ovaries being a key feature of PCOS. Metabolic dysfunction characterized by insulin resistance and compensatory hyperinsulinaemia is evident in the vast majority of affected individuals. PCOS increases the risk for type 2 diabetes mellitus, gestational diabetes and other pregnancy-related complications, venous thromboembolism, cerebrovascular and cardiovascular events and endometrial cancer. PCOS is a diagnosis of exclusion, based primarily on the presence of hyperandrogenism, ovulatory dysfunction and PCOM. Treatment should be tailored to the complaints and needs of the patient and involves targeting metabolic abnormalities through lifestyle changes, medication and potentially surgery for the prevention and management of excess weight, androgen suppression and/or blockade, endometrial protection, reproductive therapy and the detection and treatment of psychological features. This Primer summarizes the current state of knowledge regarding the epidemiology, mechanisms and pathophysiology, diagnosis, screening and prevention, management and future investigational directions of the disorder. PMID:27510637

  20. Patient and provider determinants of nephrology referral in older adults with severe chronic kidney disease: a survey of provider decision making

    OpenAIRE

    O'Hare Ann M; Mold James W; Fox Chester; Stankus Nicole; Hemmerich Joshua; Smith Sandy G; Campbell Kellie H; Chin Marshall H; Dale William

    2011-01-01

    Abstract Background Although chronic kidney disease (CKD) disproportionately affects older adults, they are less likely to be referred to a nephrologist. Factors that influence the referral decisions of primary care providers (PCPs) specifically for older CKD patients have been incompletely described. Patient factors such as dementia, functional disability, and co-morbidity may complicate the decision to refer an older adult. This study evaluated the role of patient and PCP factors in the ref...

  1. Dermatoglyphics in kidney diseases: a review.

    Science.gov (United States)

    Wijerathne, Buddhika T B; Meier, Robert J; Salgado, Sujatha S; Agampodi, Suneth B

    2016-01-01

    Kidney diseases are becoming a major cause of global burden with high mortality and morbidity. The origins of most kidney diseases are known, but for some the exact aetiology is not yet understood. Dermatoglyphics is the scientific study of epidermal ridge patterns and it has been used as a non-invasive diagnostic tool to detect or predict different medical conditions that have foetal origin. However, there have been a limited number of studies that have evaluated a dermatoglyphic relationship in different kidney diseases. The aim of this review was to systematically identify, review and appraise available literature that evaluated an association of different dermatoglyphic variables with kidney diseases. This review is reported according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses checklist. The PubMed(®) (Medline), POPLINE, Cochrane Library and Trip Database and grey literature sources such as OpenGrey, Google Scholar, and Google were searched to earliest date to 17 April 2014. Of the 36 relevant publications, 15 were included in the review. Of these studies, there are five case reports, seven case series and three comparative studies. Possible association of dermatoglyphics with Wilms tumor (WT) had been evaluated in two comparative studies and one case series that found fewer whorls and a lower mean total ridge count (TRC). Another study evaluated adult polycystic kidney disease (APCD) type III that revealed lower TRC means in all cases. All other case series and case reports describe dermatoglyphics in various kidney disease such as acro-renal-ocular syndrome, potter syndrome, kabuki makeup syndrome, neurofaciodigitorenal syndrome, syndactyly type V, ring chromosome 13 syndrome, trisomy 13 syndrome and sirenomelia. It is evident that whorl pattern frequency and TRC have been used widely to investigate the uncertainty related to the origin of several kidney diseases such as WT and APCD type III. However, small sample sizes

  2. Polycystic ovary syndrome and hirsutism

    OpenAIRE

    Evliyaoğlu, Olcay

    2011-01-01

    Polycystic ovary syndrome is a multi factorial heterogenous disorder characterized by chronic anovulation and hyperandrogenism Diagnosis is based on clinical or laboratory evidence of nbsp; hyperandrogenism nbsp; For diagnosis at least two of the three Rotterdam criteria oligo anovulation clinical or biochemical signs of hyperandrogenism polycystic ovaries nbsp; should be ensured Clinical symptoms usually begin around menarche nbsp; Oligomenorrhea amenorrhea hirsutism acne alopecia can be ass...

  3. Additive effects of dietary glycotoxins and androgen excess on the kidney of a female rat model

    Directory of Open Access Journals (Sweden)

    Sotiria Palimeri

    2016-06-01

    Conclusions: The above mentioned data suggest that dietary glycotoxins, in combination with increased androgen exposure, exert a more profound negative impact on the kidney of an androgenized female rat model that mimics the metabolic characteristics of polycystic ovary syndrome.

  4. Kidney injury biomarkers and urinary creatinine variability in nominally healthy adults

    Science.gov (United States)

    Environmental exposure diagnostics use creatinine concentrations in urine aliquots as the internal standard for dilution normalization of all other excreted metabolites when urinary excretion rate data are not available. This is a reasonable approach for healthy adults as creati...

  5. Polycystic ovarian syndrome

    Directory of Open Access Journals (Sweden)

    Nina Madnani

    2013-01-01

    Full Text Available Polycystic ovarian syndrome (PCOS is a "multispeciality" disorder suspected in patients with irregular menses and clinical signs of hyperandrogenism such as acne, seborrhoea, hirsutism, irregular menses, infertility, and alopecia. Recently, PCOS has been associated with the metabolic syndrome. Patients may develop obesity, insulin resistance, acanthosis nigricans, Type 2 diabetes, dyslipidemias, hypertension, non-alcoholic liver disease, and obstructive sleep apnoea. Good clinical examination with hematological and radiological investigations is required for clinical evaluation. Management is a combined effort involving a dermatologist, endocrinologist, gynecologist, and nutritionist. Morbidity in addition includes a low "self image" and poor quality of life. Long term medications and lifestyle changes are essential for a successful outcome. This article focuses on understanding the normal and abnormal endocrine functions involved in the pathogenesis of PCOS. Proper diagnosis and management of the patient is discussed.

  6. Polycystic ovary syndrome

    DEFF Research Database (Denmark)

    Aziz, M; Naver, Klara; Wissing, Marie Louise Muff;

    2012-01-01

    Objectives: The primary objective of this multicenter study is to evaluate the relative impact of insulin resistance (IR) and body mass index (BMI) in women with polycystic ovary syndrome (PCOS) on (1) Key hemodynamic/thrombogenic variables, (2) Oocyte quality and early embryo development, (3......) Fetal growth, placental function and adverse obstetric outcome. Secondary objective: To establish a PCOS database and biobank facilitating future basic and interventional research related to PCOS. Design: A cross-sectional and longitudinal cohort study at four University Hospitals in Denmark. Population...... inclusion: About 200 women fulfilling the Rotterdam Criteria and 100 women without PCOS recruited from 2010 to 2012. Methods: The impact of PCOS, as well as the impact of IR and BMI on the hormonal, metabolic and hemostatic key variables will be analyzed combining conventional, molecular techniques...

  7. Polycystic ovary syndrome

    DEFF Research Database (Denmark)

    Aziz, Mubeena; Sidelmann, Johannes J; Faber, Jens;

    2015-01-01

    INTRODUCTION: Polycystic ovary syndrome (PCOS) is associated with obesity and insulin resistance. The objective of this cross-sectional study was to investigate the impact of insulin resistance and body mass index (BMI) on inflammatory and hemostatic variables associated with long-term risk of...... cardiovascular disease in women with PCOS. MATERIAL AND METHODS: 149 premenopausal women with PCOS were recruited consecutively from April 2010 to February 2012 at three Danish University Hospitals. The study was conducted at the Department of Gynecology and Obstetrics, Herlev University Hospital, Denmark. PCOS...... measures were the biomarkers C-reactive protein (CRP), plasminogen activator inhibitor-1 (PAI-1), and von Willebrand factor antigen. RESULTS: Normal weight insulin-resistant PCOS women were characterized by abdominal obesity and elevated levels of plasma PAI-1. Overweight/obese insulin-resistant PCOS women...

  8. Diagnosis and management of polycystic liver disease

    NARCIS (Netherlands)

    Gevers, T.J.G.; Drenth, J.P.H.

    2013-01-01

    Polycystic liver disease (PLD) is arbitrarily defined as a liver that contains >20 cysts. The condition is associated with two genetically distinct diseases: as a primary phenotype in isolated polycystic liver disease (PCLD) and as an extrarenal manifestation in autosomal dominant polycystic kidn

  9. Binding of the blood group-reactive lectins to human adult kidney specimens.

    Science.gov (United States)

    Laitinen, L; Juusela, H; Virtanen, I

    1990-01-01

    The binding of a panel of blood group-reactive lectins to frozen sections of human kidney was studied with a special emphasis on reactivity with endothelia and basement membranes. The blood group A-reactive lectins, all specific for alpha-D-N-acetylgalactosamine (GalNAc), Helix aspersa (HAA), Helix pomatia (HPA), and Griffonia simplicifolia I-A4 (GSA-I-A4) agglutinins bound to the endothelium in specimens with blood groups A and AB. In other samples, these lectins reacted predominantly with tubular basement membranes, as well as with certain tubules. Both Dolichos biflorus (DBA) and Vicia villosa agglutinins (VVA), reported to react with blood group A1 substance, failed to reveal endothelia in most specimens, but bound differently to tubules in all blood groups. The blood group B-reactive lectins, specific for alpha-D-galactose (alpha-Gal) or GalNAc, respectively, GSA-I-B4 and Sophora japonica agglutinin (SJA), bound to the endothelia in specimens from blood group B or AB and in other specimens bound only to certain tubules. Among the blood group O-reactive lectins, specific for alpha-L-fucose (Fuc), Ulex europaeus I agglutinin (UEA-I) conjugates, but not other lectins with a similar nominal specificity, bound strongly to endothelia in specimens with blood group O. The UEA-I conjugates bound distinctly more faintly to endothelia in specimens of other blood groups. The present results indicate that lectins, binding to defined blood group determinants, react with endothelia in specimens of the respective blood group status. Furthermore, they suggest that basement membranes and some tubules in the human kidney show a distinct heterogeneity in their expression of saccharide residues, related to their blood group status.

  10. Prevalence of diminished kidney function in a representative sample of middle and older age adults in the Irish population

    Directory of Open Access Journals (Sweden)

    Browne Gemma M

    2012-11-01

    Full Text Available Abstract Background The prevalence of chronic kidney disease (CKD using available estimating equations with the Republic of Ireland is unknown. Methods A randomly selected population based cross-sectional study of 1,098 adults aged 45 years and older was conducted using data from the 2007 Survey of Lifestyle, Attitudes and Nutrition (SLÁN. Estimated Glomerular Filtration Rate (eGFR was calculated from a single IDMS aligned serum creatinine using the CKD-EPI and the MDRD equations, and albumin to creatinine ratio was based on a single random urine sample. Results The sample clinical characteristics and demography was similar to middle and older age adults in the general Irish population, though with an underrepresentation of subjects >75 years and of males. All results are based on subjects with available blood and urine samples. Applying weighting to obtain survey based population estimates, using Irish population census data, the estimated weighted prevalence of CKD-EPI eGFR2 was 11.6%, (95% confidence interval; 9.0, 14.2%, 12.0% ( 9.0, 14.2% of men and 11.2% (7.3, 15.2% of women. Unweighted prevalence estimates were similar at 11.8% (9.9, 13.8%. Albuminuria increased with lower CKD-EPI eGFR category. 10.1% of all subjects had albuminuria and an eGFR≥60 mL/min/1.73 m2 giving an overall weighted estimated prevalence of National Kidney Foundation (NKF defined CKD 21.3% (18.0, 24.6%, with the unadjusted estimate of 21.9% (19.5, 24.4%. MDRD related estimates for eGFR 2, and NFK defined CKD were higher than CKD-EPI and differences were greater in younger and female subjects. Conclusions CKD is highly prevalent in middle and older aged adults within the Republic of Ireland. In this population, there is poor agreement between CKD-EPI and MDRD equations especially at higher GFRs. CKD is associated with lower educational status and poor self rated health.

  11. Acquired Multiple Cysts of the Kidney in Neuroblastoma Survivors.

    Science.gov (United States)

    Moodalbail, Divya G; Apple, Leah Z; Meyers, Kevin E; Ginsberg, Jill P; Kaplan, Bernard S; Bellah, Richard

    2016-07-01

    Cystic kidney disease includes a wide range of hereditary, developmental, and acquired conditions of the kidneys. Some of the inherited causes of cystic kidney disease include autosomal dominant polycystic kidney diseases (caused by mutations in PKD1 or PKD2), autosomal recessive polycystic kidney disease, tuberous sclerosis complex, von Hippel-Lindau disease, oral-facial-digital syndrome type I, and Hadju-Cheney syndrome. Acquired cystic kidney disease has been reported in patients receiving long-term hemodialysis or peritoneal dialysis and in children after liver transplantation. Acute kidney injury can occur in patients with neuroblastoma, usually as a result of thrombotic microangiopathy associated with bone marrow transplantation. End-stage renal disease is described in long-term survivors. However, in this case report, we provide what is to our knowledge the first description of multiple kidney cysts in long-term survivors of stage IV neuroblastoma. None of the 7 patients we describe with neuroblastoma and multiple kidney cysts had a family history of autosomal dominant polycystic kidney disease. Also, all lacked stigmata of tuberous sclerosis complex, von Hippel-Lindau disease, or Hadju-Cheney syndrome. Two patients progressed to end-stage renal disease; in addition, one of them developed an oncocytoid renal cell carcinoma. PMID:27016049

  12. The Effects of n-3 Long-Chain Polyunsaturated Fatty Acid Supplementation on Biomarkers of Kidney Injury in Adults With Diabetes

    Science.gov (United States)

    Miller, Edgar R.; Juraschek, Stephen P.; Anderson, Cheryl A.; Guallar, Eliseo; Henoch-Ryugo, Karen; Charleston, Jeanne; Turban, Sharon; Bennett, Michael R.; Appel, Lawrence J.

    2013-01-01

    OBJECTIVE Long-chain n-3 polyunsaturated fatty acid (n-3 PUFA) supplements may have renoprotective effects in patients with diabetes, but previous trials have been inconsistent. We performed a randomized controlled trial of n-3 PUFA supplementation on urine albumin excretion and markers of kidney injury in adults with type 2 diabetes. RESEARCH DESIGN AND METHODS We conducted a randomized, placebo-controlled, two-period crossover trial to test the effects of 4 g/day of n-3 PUFA supplementation on markers of glomerular filtration and kidney injury in adults with adult-onset diabetes and greater than or equal to trace amounts of proteinuria. Each period lasted 6 weeks and was separated by a 2-week washout. The main outcome was urine albumin excretion and, secondarily, markers of kidney injury (kidney injury molecule-1, N-acetyl β-d-glucosaminidase [NAG], neutrophil gelatinase-associated lipocalin [NGAL], and liver fatty acid–binding protein [LFABP]), serum markers of kidney function (cystatin C, β2-microglobulin, and creatinine), and estimated glomerular filtration rate (eGFR). RESULTS Of the 31 participants, 29 finished both periods. A total of 55% were male, and 61% were African American; mean age was 67 years. At baseline, mean BMI was 31.6 kg/m2, median eGFR was 76.9 mL/min/1.73 m2, and median 24-h urine albumin excretion was 161 mg/day. Compared with placebo, n-3 PUFA had nonsignificant effects on urine albumin excretion (−7.2%; 95% CI −20.6 to 8.5; P = 0.35) and significant effects on urine NGAL excretion (−16% [−29.1 to −0.5%]; P = 0.04). There was no effect on serum markers of kidney function or eGFR. In subgroup analyses, there were significant decreases in 24-h urinary excretion of albumin, NGAL, LFABP, and NAG among participants taking medications that block the renin-angiotensin-aldosterone system (RAAS). CONCLUSIONS These results suggest a potential effect of n-3 PUFA supplementation on markers of kidney injury in patients with diabetes and

  13. The effects of n-3 long-chain polyunsaturated fatty acid supplementation on biomarkers of kidney injury in adults with diabetes: results of the GO-FISH trial.

    Science.gov (United States)

    Miller, Edgar R; Juraschek, Stephen P; Anderson, Cheryl A; Guallar, Eliseo; Henoch-Ryugo, Karen; Charleston, Jeanne; Turban, Sharon; Bennett, Michael R; Appel, Lawrence J

    2013-06-01

    OBJECTIVE Long-chain n-3 polyunsaturated fatty acid (n-3 PUFA) supplements may have renoprotective effects in patients with diabetes, but previous trials have been inconsistent. We performed a randomized controlled trial of n-3 PUFA supplementation on urine albumin excretion and markers of kidney injury in adults with type 2 diabetes. RESEARCH DESIGN AND METHODS We conducted a randomized, placebo-controlled, two-period crossover trial to test the effects of 4 g/day of n-3 PUFA supplementation on markers of glomerular filtration and kidney injury in adults with adult-onset diabetes and greater than or equal to trace amounts of proteinuria. Each period lasted 6 weeks and was separated by a 2-week washout. The main outcome was urine albumin excretion and, secondarily, markers of kidney injury (kidney injury molecule-1, N-acetyl β-d-glucosaminidase [NAG], neutrophil gelatinase-associated lipocalin [NGAL], and liver fatty acid-binding protein [LFABP]), serum markers of kidney function (cystatin C, β2-microglobulin, and creatinine), and estimated glomerular filtration rate (eGFR). RESULTS Of the 31 participants, 29 finished both periods. A total of 55% were male, and 61% were African American; mean age was 67 years. At baseline, mean BMI was 31.6 kg/m(2), median eGFR was 76.9 mL/min/1.73 m(2), and median 24-h urine albumin excretion was 161 mg/day. Compared with placebo, n-3 PUFA had nonsignificant effects on urine albumin excretion (-7.2%; 95% CI -20.6 to 8.5; P = 0.35) and significant effects on urine NGAL excretion (-16% [-29.1 to -0.5%]; P = 0.04). There was no effect on serum markers of kidney function or eGFR. In subgroup analyses, there were significant decreases in 24-h urinary excretion of albumin, NGAL, LFABP, and NAG among participants taking medications that block the renin-angiotensin-aldosterone system (RAAS). CONCLUSIONS These results suggest a potential effect of n-3 PUFA supplementation on markers of kidney injury in patients with diabetes and early

  14. Assessment of Plasma and NGAL for the Early Prediction of Acute Kidney Injury After Cardiac Surgery in Adults Study

    Science.gov (United States)

    2016-04-11

    Acute Kidney Injury (AKI); Chronic Kidney Disease (CKD); End Stage Renal Disease (ESRD); Estimated Glomerular Filtration Rate (eGFR); Neutrophil Gelatinase-associated Lipocalin (NGAL); Serum Creatinine (SCr); Urine Creatinine (UCr); Urine Albumin (UAlb)

  15. Nutritional intervention restores muscle but not kidney phenotypes in adult calcineurin aα null mice

    DEFF Research Database (Denmark)

    Madsen, Kirsten; Reddy, Ramesh N; Price, S Russ;

    2013-01-01

    to thrive and early lethality of most null pups. Work in our laboratory led to the rescue of CnAα-/- mice by supplemental feeding to compensate for a defect in salivary enzyme secretion. The data revealed that, without intervention, knockout mice suffer from severe caloric restriction. Since nutritional...... and function persist in adult CnAα-/- mice including a significant decrease in glomerular filtration rate and an increase in blood urea nitrogen levels. These data indicate that impaired renal development we previously reported was not due to caloric restriction but rather a specific role for CnAα in renal......Aα likely alters insulin response due to a reduction in insulin receptor substrate-2 (IRS2) expression and signaling in muscle. This study illustrates the importance of re-examining the phenotypes of CnAα-/- mice and the advances that are now possible with the use of adult, rescued knockout animals....

  16. UNUSUAL CASE OF POLYCYSTIC LIVER DISEASE

    Directory of Open Access Journals (Sweden)

    Andreea Brumaru

    2005-01-01

    Full Text Available Polycystic liver disease (PCLD is a rare disease defined as the presence of four or more thin-walled cyst within the hepatic parenchyma.The most common form of autosomal dominant PCLD coexist with renal cystic disease. In contrast to the concomitant renal and liver cystic disease, the isolated form of PCLD is a comparatively rare form, that displays no renal involvement.Only 7% of patients with PCDL do not have associated renal cyst. Most cases are asymptomatic. Patients generally have preserved hepatic functions.The liver function tests are normal. Polycystic liver is rarely associated with portal hypertension , obstructive jaundice or infection of hepatic cysts. Autopsy series show that 20 % of patients with PCLD have associated intracranial aneurism. There are no effective medical therapies for PCLD.Surgical options for those with refractory symptoms or complications include percutaneous puncture and sclerosys of cysts, cysts fenestration by open or laparoscopic technique, hepatic resection, and isolated hepatic or combined liver kidney transplantation. We present the case of a 68 years male subject , diagnosed with alcoholic liver cirrhosis based on the chronic alcohol consumption,negative serological markers for the B and C hepatitis viruses, hepatoprive and biliar retention tests, portal hypertension. The abdominal echography revealed a diffuse enlargement of the liver , witch contains numerous cysts scattered throughout the liver. The cysts vary in size from less than 1 cm to more than 5 cm. There is no evidence of renal or pancreatic cysts. The treatment is addressed to the portal hypertension due to alcoholic liver disease. The PCLD is not complicated and therefore requires no surgical treatment.

  17. Liver transplantation for polycystic liver with massive hepatomegaly: A case report

    Institute of Scientific and Technical Information of China (English)

    Wei-Wei Jiang; Feng Zhang; Li-Yong Pu; Xue-Hao Wang; Lian-Bao Kong

    2009-01-01

    A previous study has shown that liver or combined liver-kidney transplantation can be a valuable surgical technique for the treatment of polycystic liver disease.Herein, we present the case of a 35-year-old woman with polycystic liver disease, who underwent orthotopic liver transplantation (OLT) on November 11, 2008.The whole-size graft was taken from a deceased donor (a 51-year-old man who died of a heart attack).Resection in a patient with massive hepatomegaly is very difficult. Thus, after intercepting the portal hepatic vein, left hepatectomy was performed, then the vena cava was intercepted, the second and third porta hepatic isolated, and finally, right hepatectomy was performed. OLT was performed successfully.The recipient did well after transplantation. This case suggested that OLT is an effective therapeutic option for polycystic liver disease and left hepatectomy can be performed first during OLT if the liver is over enlarged.

  18. Kidney Dysfunction in Adult Offspring Exposed In Utero to Type 1 Diabetes Is Associated with Alterations in Genome-Wide DNA Methylation.

    Directory of Open Access Journals (Sweden)

    Jean-François Gautier

    Full Text Available Fetal exposure to hyperglycemia impacts negatively kidney development and function.Our objective was to determine whether fetal exposure to moderate hyperglycemia is associated with epigenetic alterations in DNA methylation in peripheral blood cells and whether those alterations are related to impaired kidney function in adult offspring.Twenty nine adult, non-diabetic offspring of mothers with type 1 diabetes (T1D (case group were matched with 28 offspring of T1D fathers (control group for the study of their leukocyte genome-wide DNA methylation profile (27,578 CpG sites, Human Methylation 27 BeadChip, Illumina Infinium. In a subset of 19 cases and 18 controls, we assessed renal vascular development by measuring Glomerular Filtration Rate (GFR and Effective Renal Plasma Flow (ERPF at baseline and during vasodilatation produced by amino acid infusion.Globally, DNA was under-methylated in cases vs. controls. Among the 87 CpG sites differently methylated, 74 sites were less methylated and 13 sites more methylated in cases vs. controls. None of these CpG sites were located on a gene known to be directly involved in kidney development and/or function. However, the gene encoding DNA methyltransferase 1 (DNMT1--a key enzyme involved in gene expression during early development--was under-methylated in cases. The average methylation of the 74 under-methylated sites differently correlated with GFR in cases and controls.Alterations in methylation profile imprinted by the hyperglycemic milieu of T1D mothers during fetal development may impact kidney function in adult offspring. The involved pathways seem to be a nonspecific imprinting process rather than specific to kidney development or function.

  19. POLYCYSTIC OVARY SYNDROME

    Directory of Open Access Journals (Sweden)

    Akula Annapurna

    2013-09-01

    Full Text Available Polycystic ovary syndrome is a condition in which a woman has an imbalance of female sex hormones. This may lead to menstrual cycle changes, cysts in the ovaries, trouble getting pregnant, and other health changes. In PCOS, mature eggs are not released from the ovaries. Instead, they can form very small cysts in the ovary. These changes can contribute to infertility. Common symptoms of PCOS include Menstrual disorders, Infertility, High levels of testosterone and Metabolic syndrome. Obesity, sedentary life style with inadequate physical activity, stress, junk food consumption are thought to be contributing factors in addition to genetic origin. In recent years many of the girls and women are suffering from PCOS because of wrong eating habits, stressful living conditions and lack of physical activity. Weight loss has been the major recommendation by physicians for women with PCOS. Lifestyle modifications including stress reduction, moderate exercise, and group support, along with a decrease in total calorie intake and avoiding junk food consumption have had positive results. A decrease of only 5% of total body weight is associated with decreased insulin levels, increased fertility, reduced hirsutism and acne, and lower testosterone levels. Whole grains, fruits and vegetables with foods containing protein and natural fat along with vitamins and minerals are beneficial.

  20. [Polycystic ovary syndrome (PCOS)].

    Science.gov (United States)

    Torre, A; Fernandez, H

    2007-09-01

    Polycystic ovaries syndrome (PCOS) is one of the most common female hormonal disorders. Its multiple components--reproductive, metabolic, neoplasic and cardiovascular--have a major impact on the public health. Androgen excess and resistance to insulin, probably from genetic origin, are responsible for most of the clinical symptomatology. Resistance to insulin seems to be accompanied by a greater risk of glucose intolerance, type 2 diabetes, lipidic anomalies and can involve the development of cardiovascular diseases. In addition, sleep apnea syndrome is more progressively described in PCOS. Infertility, menses disorders and hirsutism often push these patients to consult their physician. A better understanding of the physiopathological mechanisms led to the emergence of new therapeutic options increasing the sensitivity to insulin. Besides the pregnancy wishes, cares aim to attenuate the marks of the hyper-androgenism (hormonal treatment and cosmetic) and to correct cardiovascular, respiratory and gynaecological risk factors. In case of infertility by anovulation, cares must be performed by trained experts to minimize the risk of ovarian hyper-stimulation syndrome and multiple pregnancies. A gradation from loose weight to clomiphene citrate ovulation induction, ovarian drilling, low dose gonadotropin, in vitro fertilisation, or in vitro maturation of oocytes should bring back good reproduction potential.

  1. Aneurisma gigante do segmento intracavernoso da carótida interna associado a doença renal policística autossômica dominante: relato de caso Giant aneurysm of the intracavernous internal carotid artery associated with autosomal dominant polycystic kidney disease: case report

    Directory of Open Access Journals (Sweden)

    Keven F. Ponte

    2006-09-01

    Full Text Available Apresenta-se o caso de mulher de 60 anos com doença renal policística autossômica dominante (DRPAD que desenvolveu quadro de cefaléia e oftalmoplegia completa à direita. A TC levantou a hipótese de um aneurisma gigante do segmento intracavernoso da carótida interna direita, o que foi confirmado pela arteriografia. Realizou-se, então, tratamento endovascular por oclusão do vaso parental com molas destacáveis no segmento supraclinóideo. A paciente evoluiu com a interrupção da cefaléia e com redução parcial da ptose e da oftalmoplegia. Neste artigo, enfatiza-se a relação entre DRPAD e aneurismas intracranianos. Comenta-se a história natural dos aneurismas originados no segmento intracavernoso da artéria carótida interna e comparam-se as opções terapêuticas no manejo destas lesões.We report the case of a 60 years-old woman with autosomal dominant polycystic kidney disease (ADPKD that presented with headache and right complete ophthalmoplegia. The CT scan raised the possibility of a giant aneurysm of the right intracavernous internal carotid artery, confirmed by angiography. The patient underwent endovascular occlusion of parent vessel with detachable coils, then she presented interruption of headache and partial recovery of ptosis and ophthalmoplegia. We emphasize the relationship between ADPKD and intracranial aneurysms. We also discuss the natural history and compare the therapeutic options for the management of giant aneurysms of the cavernous portion of the carotid artery.

  2. Sheep models of polycystic ovary syndrome phenotype.

    Science.gov (United States)

    Padmanabhan, Vasantha; Veiga-Lopez, Almudena

    2013-07-01

    Polycystic ovary syndrome (PCOS) is a fertility disorder affecting 5-7% of reproductive-aged women. Women with PCOS manifest both reproductive and metabolic defects. Several animal models have evolved, which implicate excess steroid exposure during fetal life in the development of the PCOS phenotype. This review addresses the fetal and adult reproductive and metabolic consequences of prenatal steroid excess in sheep and the translational relevance of these findings to PCOS. By comparing findings in various breeds of sheep, the review targets the role of genetic susceptibility to fetal insults. Disruptions induced by prenatal testosterone excess are evident at both the reproductive and metabolic level with each influencing the other thus creating a self-perpetuating vicious cycle. The review highlights the need for identifying a common mediator of the dysfunctions at the reproductive and metabolic levels and developing prevention and treatment interventions targeting all sites of disruption in unison for achieving optimal success.

  3. Fetal polycystic renal disease: prenatal sonographic findings with pathologic correlation

    International Nuclear Information System (INIS)

    Polycystic renal disease are congenital disorders, most of which are fatal in the postnatal period. A series of ten cases of polycystic renal disease diagnosed prenatally by ultrasonography is presented. Diagnostic criteria of ultrasonography for cystic renal disease are; 1. enlarge kidney (4 cases) 2. echogenic density of kidney (3 cases) 3. 0.4 - 0.9cm sized multiple cysts within the renal cortex (3 cases) 4. decreased amount of amniotic fluid (4 cases) 5. hydronephrosis (4 cases) 6. distended bladder (2 cases) 7. absence of bladder (2 cases) Eight of ten cases were confirmed by autopsy. Seven cases had other associated congenital anomalies, i.e. pulmonary hypoplasia (5), hepatic fibrosis (3), congenital heart disease (3), tracheoesophageal fistula with imperforate anus (1), caudal regression syndrome (1), Meckel-Gruber syndrome (1) and ambiguous genitalia (2). Additional cytogenetic study of the fetus and the careful family history taking followed by prenatal diagnosis of cystic renal disease. Precise prenatal diagnosis may allow patients the option of elective abortion or may prevent unnecessary obstetric intervention

  4. THYROID PATHOLOGY IN POLYCYSTIC OVARY SYNDROME

    OpenAIRE

    Gabriela Dumăchiţǎ-Şargu; Voichiţa Mogoş; Florentina Pricop

    2010-01-01

    The polycystic ovary syndrome (PCOS) is defined by a chronic anovulation, clinical and/or biochemical evidence of hyperandrogenism, in the presence of polycystic ovaries and the absence of the other causes. The aim of the study is to estimate the prevalence of thyroid pathology in women with polycystic ovary syndrome. Methods: This study is a retrospective one and was made from January 2003 to December 2009 in the Endocrinology Clinic of “Saint Spiridon” Hospital and included a number of 483 ...

  5. Metals and kidney markers in adult offspring of endemic nephropathy patients and controls: a two-year follow-up study

    Directory of Open Access Journals (Sweden)

    Tsolova Svetla

    2008-04-01

    Full Text Available Abstract Background The etiology of Balkan Endemic Nephropathy, (BEN, a tubulointerstitial kidney disease, is unknown. Although this disease is endemic in rural areas of Bosnia, Bulgaria, Croatia, Romania, and Serbia, similar manifestations are reported to occur in other regions, for instance Tunisia and Sri Lanka. A number of explanations have been stated including lignites, aristolochic acid, ochratoxin A, metals, and metalloids. Etiologic claims are often based on one or a few studies without sound scientific evidence. In this systematic study, we tested whether exposures to metals (cadmium and lead and metalloids (arsenic and selenium are related to Balkan Endemic Nephropathy. Methods In 2003/04 we recruited 102 adults whose parents had BEN and who resided in one of three communities (Vratza, Bistretz, or Beli Izvor, Bulgaria. A control group comprised of 99 adults having non-BEN hospitalized parents was enrolled in the study during the same time. We conducted face-to-face interviews, ultrasound kidney measurements, and determined kidney function in two consecutive investigations (2003/04 and 2004/05. Metals and metalloids were measured in urine and blood samples. To assess the agreement between these consecutive measurements, we calculated intraclass correlation coefficients. Repeated measurement data were analyzed using mixed models. Results We found that cadmium and arsenic were associated with neither kidney size nor function. Lead had a significant but negligible effect on creatinine clearance. Selenium showed a weak but significant negative association with two of the four kidney parameters, namely creatinine clearance and β2-microglobulin. It was positively related to kidney length. These associations were not restricted to the offspring of BEN patients. Adding credence to these findings are reports showing comparable kidney effects in animals exposed to selenium. Conclusion The findings of this 2-year follow-up study indicate that

  6. Ultrasound-guided percutaneous drainage and sclerotherapy in a patient with isolated autosomal dominant polycystic liver disease

    Directory of Open Access Journals (Sweden)

    Ana Barbado-Cano

    2015-03-01

    Full Text Available Isolated polycystic liver disease (IPLD is a rare genetic condition characterized by the presence of multiple liver cysts with no association with polycystic kidney disease. Most patients are asymptomatic and acute complications (cyst torsion, bleeding, infection are uncommon. Imaging techniques, including abdominal ultrasounds, computerized axial tomography, and magnetic resonance imaging, represent a vital diagnostic modality. They are also useful for therapy support in this disease. Below we report a peculiar case of a female patient recently diagnosed with IPLD who, having received treatment with ultrasound-guided percutaneous drainage and sclerotherapy for a giant liver cyst, showed symptom and laboratory improvement.

  7. Observation on Therapeutic Effect of Traditional Chinese Medicine and Moxibustion in Treating 128 Cases of Spleen Kidney Yang Deficiency Type Polycystic Ovary Syndrome Induced Infertility%中药加艾灸治疗脾肾阳虚型多囊卵巢综合征不孕128例疗效观察

    Institute of Scientific and Technical Information of China (English)

    许玉刚

    2014-01-01

    Objective:To observe the clinical curative effect of traditional Chinese medicine combined with moxibustion therapy on pa-tients with spleen kidney yang deficiency type of polycystic ovary syndrome induced infertility.Methods:Two hundred and fifty patients who met the inclusion criteria were randomly divided into observation group (n=128)and control group (n=122).The control group a-dopted Ethinylestradiol and Cyproterone Acetate Tablets treatment,and observation group gave patients warming kidney and invigorating spleen herbs (Xianmao,Ligustrum lucidum,medlar,dodder seed,polygonatum rhizome,dangshen,wine,vinegar Rhizoma Cyperi,epime-dium,angelica,licorice root,Cornu Cervi degelatinatum)combined with Moxibustion (Guan Yuan,Qihai and Zusanli)treatment.The hormone levels (T,LH,FSH,and E2 ),follicle number,basal body temperature changes and pregnancy rates were ovserved.Results:The clinical curative rates of the observation group and the control group were respectively 42.97%and 20.49%,and the total effective rate were 87.50%and 74.59%;the normal rate of recovery of basal body temperature were 67.97%and 40.98%;pregnancy rate were re-spectively 53.13% and 26.23%;all the above indicators between the two groups showed statistically significant differences (P<0.01).T,LH and FSH levels decreased after treatment in both groups,and E2 levels were elevated,and the differences were statistically significant between the two groups (P<0.05 ).After treatment,left and right side ovarian antral follicle number of patients in the obser-vation group was lower than the control group,group comparison,the differences were statistically significant (P<0.05 ).Conclusion:Wenshen Jianpi herbs combined with moxibustion therapy on spleen kidney yang deficiency type of polycystic ovary syndrome shows bet-ter clinical curative effect than ethinylestradiol and cyproterone acetate tablets in patients with infertility,it can significantly improve hor-mone levels,basal body temperature,reduce the

  8. [Diagnostics of polycystic ovary syndrome].

    Science.gov (United States)

    Lazúrová, Ivica; Figurová, Jana; Lazúrová, Zora

    2015-12-01

    Polycystic ovary syndrome (PCOS) is the most frequent endocrinopathy among women of reproductive age and the most frequent cause of menstruation cycle disorders. It is marked by a hyperandrogenic state (clinical and/or biochemical) and ovulatory dysfunction (anovulation and/or ultrasonographic finding of polycystic ovaries), which are also criteria for its diagnosis according to Androgen Excess and PCOS Society. The syndrome has multiple phenotypic expressions, among them besides the above characteristics also a metabolic syndrome, primarily obesity and insulin resistance. Diagnosing of PCOS may be rather exacting in clinical practice and it remains to be a diagnosis per exclusionem, following elimination of other causes of hyperandrogenic state and chronic oligo-anovulation. It requires a close cooperation between a gynecologist and endocrinologist and with regard to frequent metabolic complications also with an internist, diabetologist and possibly cardiologist. PMID:27124971

  9. Assessing glomerular filtration rate in healthy adult potential kidney donors in Bangladesh: a comparison of various prediction equations with measured glomerular filtration rate by diethylentriamine pentaacetic acid renogram.

    Science.gov (United States)

    Jahan, F; Chowdhury, M N U; Mahbub, T; Arafat, S M; Jahan, S; Hossain, M; Khan, M F

    2013-08-01

    To ensure that potential kidney donors in Bangladesh have no renal impairment, it is extremely important to have accurate methods for evaluating the glomerular filtration rate (GFR). We evaluated the performance of serum creatinine based GFR in healthy adult potential kidney donors in Bangladesh to compare GFR determined by DTPA with that determined by various prediction equations. In this study GFR in 61 healthy adult potential kidney donors were measured with 99mTc-diethylenetriamine penta-acetic acid (DTPA) renogram. We also estimated GFR using a four variable equation modification of diet in renal disease (MDRD), Cockcroft-Gault creatinine clearance (CGCrCl), Cockcroft-Gault glomerular filtration rate (CG-GFR). The mean age of study population was 34.31 +/- 9.46 years and out of them 65.6% was male. In this study mean mGFR was 85.4 +/- 14.8. Correlation of estimated GFR calculated by CG-CrCl, CG-GFR and MDRD were done with measured GFR DTPA using quartile. Kappa values were also estimated which was found to be 0.104 for (p = 0.151), 0.336 for (p = 0.001) and 0.125 for (p = 0.091) respectively. This indicates there is no association between estimated GFR calculated by CG-CrCl, CG-GFR, MDRD with measured GFR DTPA. These results show poor performance of these equations in evaluation of renal function among healthy population and also raise question regarding validity of these equations for assessment of renal function in chronic kidney disease in our population.

  10. The Protective Effects of Vitamins C and E on The Oxidative Stress Induced by Sodium Metabisulfite on The Kidney Tissue in Adult Rats

    Directory of Open Access Journals (Sweden)

    Abdolnabi Peyravi

    2016-09-01

    Full Text Available Background & Objective: Sodium metabisulfite which is used as a food preservative in the food industry, has adverse effects on body organs such as kidney and body grouth rate. In this research we have studied the protective effect of Vitamin C and E as antioxidants, on the kidney tissue damage after the consumption of Sodium metabisulfite. Materials & methods: Forty-eight Adult male Wistar rats of 150-200 grams were divided into 6 groups of 8 each. Rats in the experimental groups received Sodium metabisulfite (520 mg / kg body weight by gavage feeding for 30 consecutive days. Also during this period, the experimental groups 2 and 3 received a daily dose of 100 mg / kg vitamins C and E, Respectively. The experimental group 4 received 50 mg / kg vitamin C plus 50 mg / kg of vitamin E by the same root. Control group received only normal diet and water. The placebo received vehicle (drug solvent as well as normal diet and water. At the end of the exprimental period the body growth rate was measured between the groups. The histhopatological examination was performed on the kidney tissue sections. by light microscope Results: The results showed sodium metabisulfite in daily dietary could lead to the kidney tissue damage and reduced body weight in rats (p <0.05. However, vitamins C and E can reduce the kidney tissue damage and allow a normal growth weight (p <0.05. Conclusion: With this study we could conclude that the antioxidant effect of that vitamins C and E have a protective effect on renal damage induced by sodium metabisulfite consumption

  11. Metformin and Polycystic Ovary Syndrome

    OpenAIRE

    Omran, Maha Yousef Soliman

    2007-01-01

    The polycystic ovary syndrome (PCOS), one of the most common causes of infertility due to anovulation, affects 4–7% of women). Etiology of PCOS remains largely unknown, familial aggregation of cases suggests genetic susceptibility to the disorder. Though genes involved remain unknown, recent evidence points to a gene of the insulin receptor. Genes implicated in ovarian follicular development may also play a role. A fundamental aspect of the syndrome seems to be a defect in insulin metabolism....

  12. Polycystic Ovary Syndrome in Adolescence

    OpenAIRE

    Buggs, Colleen; Rosenfield, Robert L.

    2005-01-01

    Polycystic ovary syndrome (PCOS) is a syndrome of variable combinations of menstrual irregularity, hirsutism or acne, and obesity. It can be diagnosed in adolescence and has early childhood antecedents. PCOS is the single most common endocrine cause of anovulatory infertility and a major risk factor for the metabolic syndrome and, in turn, development of type 2 diabetes mellitus (T2DM) in women. Thus, it appears that PCOS increases a woman’s risk of developing cardiovascular disease. Therefor...

  13. Experimental research on preimplantation genetic diagnosis for autosomal dominant polycys-tic kidney disease%常染色体显性多囊肾疾病行胚胎植入前遗传学诊断的实验研究

    Institute of Scientific and Technical Information of China (English)

    朱琴; 徐炳森; 黄学锋; 周颖

    2009-01-01

    目的:建立由PKD1突变所致常染色体显性多囊肾疾病(autosomal dominant polycystic kidney disease,ADPKD)的胚胎植入前遗传学诊断(preimplantation genetic diagnosis,PGD)方法.方法:①通过微卫星连锁分析确定2个多囊肾家系的ADPKD致病基因.检测的微卫星包括为与PKD1连锁的KG8、 SM6、CW4和CW2以及与PKD2连锁的D4S1534、D4S1563、D4S414和D4S423.②对18个淋巴细胞和1个PKD1 突变所致ADPKD成员行常规体外受精胚胎移植后的5个废弃胚胎15个卵裂球行多重巢式PCR和毛细管电泳检测与PKD1连锁的微卫星分型.结果:①KG8、CW4和CW2 可作为连锁微卫星分析外周血和单个细胞的PKD1突变;②2个家系的致病基因均为PKD1;③单个卵裂球扩增成功率为86.67%(13/15),单个淋巴细胞扩增成功率为88.89%(16/18),CW4等位基因脱扣率为25%(4/16),CW2未发现等位基因脱扣,均未发现污染,2个胚胎携带致病基因.结论:PKD1连锁的微卫星分型可作为PKD1突变所致ADPKD的PGD诊断方法.

  14. Metabolic Syndrome: Polycystic Ovary Syndrome.

    Science.gov (United States)

    Mortada, Rami; Williams, Tracy

    2015-08-01

    Polycystic ovary syndrome (PCOS) is a heterogeneous condition characterized by androgen excess, ovulatory dysfunction, and polycystic ovaries. It is the most common endocrinopathy among women of reproductive age, affecting between 6.5% and 8% of women, and is the most common cause of infertility. Insulin resistance is almost always present in women with PCOS, regardless of weight, and they often develop diabetes and metabolic syndrome. The Rotterdam criteria are widely used for diagnosis. These criteria require that patients have at least two of the following conditions: hyperandrogenism, ovulatory dysfunction, and polycystic ovaries. The diagnosis of PCOS also requires exclusion of other potential etiologies of hyperandrogenism and ovulatory dysfunction. The approach to PCOS management differs according to the presenting symptoms and treatment goals, particularly the patient's desire for pregnancy. Weight loss through dietary modifications and exercise is recommended for patients with PCOS who are overweight. Oral contraceptives are the first-line treatment for regulating menstrual cycles and reducing manifestations of hyperandrogenism, such as acne and hirsutism. Clomiphene is the first-line drug for management of anovulatory infertility. Metformin is recommended for metabolic abnormalities such as prediabetes, and a statin should be prescribed for cardioprotection if the patient meets standard criteria for statin therapy. PMID:26280343

  15. Polycystic Ovarian Syndrome: A Primer.

    Science.gov (United States)

    Thornton, Emily C; Von Wald, Tiffany; Hansen, Keith

    2015-06-01

    Polycystic ovary syndrome (PCOS) affects 8-10 percent of reproductive-aged females, making it the most common state of endocrine dysfunction in women. Patients with PCOS are often treated for the signs and symptoms of the condition without consideration for the underlying syndrome, causing frustration for many affected patients. Abnormal uterine bleeding, endometrial hyperplasia and cancer, hirsutism and other skin changes, obesity, glucose intolerance, hypertension, and hyperlipidemia often accompany the syndrome, making it imperative to address these issues. The keys to diagnosis and treatment are understanding the diagnostic criteria of hyperandrogenism, ovulatory dysfunction, polycystic ovaries and the metabolic syndrome, while aiming treatment at controlling the symptoms and causes of the syndrome. In 2013, the Endocrine Society released its clinical guidelines, Diagnosis and Treatment of Polycystic Ovary Syndrome: An Endocrine Society Clinical Practice Guideline. This gives clear diagnostic criteria, and treatment goals aimed at the etiology of the syndrome: to decrease hyperandrogenic symptoms, management of underlying metabolic abnormalities, prevention of endometrial hyperplasia and carcinoma, and improvement of ovulation.

  16. Adult glucocorticoid exposure leads to transcriptional and DNA methylation changes in nuclear steroid receptors in the hippocampus and kidney of mouse male offspring.

    Science.gov (United States)

    Petropoulos, Sophie; Matthews, Stephen G; Szyf, Moshe

    2014-02-01

    Synthetic glucocorticoids (sGCs) are commonly prescribed for the management of inflammatory and endocrine disorders. However, nothing is known regarding the effects of sGC on adult germline methylome and whether these effects can be transmitted to the next generation. We hypothesized that administration of sGC to adult male mice alters DNA methylation in mature sperm and modifies the transcription and methylation of steroid receptors in male F1 offspring. Adult C57BL/6 males (n = 10/group) were injected on five consecutive days with 1 mg/kg sGC (i.e., dexamethasone) or vehicle and euthanized 35 or 60 days after initial treatment or bred with control females (60 days postinitial treatment; n = 5/group). A significant increase in global non-CpG methylation was observed in F0 sperm 60 days following sGC treatment. In the hippocampus and kidney of Postnatal Day 50 (PND50) and PND240 male offspring derived from fathers exposed to sGC, significant differences in mineralocorticoid receptor (Nr3c2; Mr), estrogen alpha receptor (Nr3a1; Ers1), and glucocorticoid receptor (Nr3c1; Gr) expression were observed. Furthermore, significant demethylation in regulatory regions of Mr, Gr, and Esr1 was observed in the PND50 kidney derived from fathers exposed to sGC. This is the first demonstration that paternal pharmacological exposure to sGC can alter the expression and DNA methylation of nuclear steroid receptors in brain and somatic tissues of offspring. These findings provide proof of principle that adult male exposure to sGC can affect DNA methylation and gene expression in offspring, indicating the possibility that adult experiences that evoke increases in endogenous glucocorticoid (i.e., stress) might have similar effects.

  17. MLPA在常染色体显性遗传多囊肾病基因诊断中的应用%Application of MLPA in gene diagnosis of autosomal dominant polycystic kidney disease

    Institute of Scientific and Technical Information of China (English)

    于国鹏; 齐隽; 龙飞; 黄驿晨; 钱小强; 陶炯; 陈建华

    2011-01-01

    目的 探讨多重连接探针扩增技术(MLPA)在常染色体显性遗传多囊肾病(ADPKD)基因诊断中的应用.方法 采用MLPA对20例ADPKD患者的PKD1基因和PKD2基因进行检测.MLPA检测结果显示单-外显子扩增或疑似扩增者采用RT-PCR检测验证;MLPA检测结果显示单一外显子缺失或疑似缺失者采用PCR检测验证,存在扩增产物者进行测序验证.结果 MLPA检测显示:1例患者单一外显子缺失(PKD1 Exon40),5例单一外显子疑似缺失(PKD1 Exon1、PKD1 Exon25、PKD2 Exon8、PKD2 Exon8、PKD1 Exon25),3例单一外显子疑似扩增(PKD1 Exon6、PKD1Exon7、PKD1 Exon7).经RT-PCR检测验证,1例患者单一外显子扩增(PKD1 Exon6);经PCR检测与测序验证,1例患者单一外显子错义突变(PKD1 Exon40),1例单一外显子缺失(PKD2 Exon8).结论 MLPA为ADPKD的基因诊断提供了一种新的方法.%Objective To investigate the application of multiplex ligation-dependent probe amplification ( MLPA) in the gene diagnosis of autosomal dominant poiycystic kidney disease (ADPKD). Methods MLPA was employed to detect the PKD1 gene and PKD2 gene in 20 patients with ADPKD. Verification with RT-PCR was performed for those with single exon duplication or suspected duplication detected by MLPA. Those with single exon deletion or suspected deletion detected by MLPA were verified with PCR, and sequencing analysis was conducted in those with amplification products. Results One patient with single exon deletion (PKD1 Exon40), 5 patients with single exon suspected deletion ( PKD1 Exonl, PKD1 Exon25, PKD2 ExonS, PKD2 ExonS and PKD1 Exon25) and 3 patients with single exon suspected duplication ( PKD1 Exon6, PKD1 Exon7 and PKD1 Exon7) were detected by MLPA. One patient with single exon duplication (PKD1 Exon6) was verified by RT-PCR, and one patient with single exon missense mutation (PKD1 Exon40) and one patient with single exon deletion (PKD2 Exon8) were verified by PCR and sequencing analysis. Conclusion

  18. Intermediate-Term Outcomes of Dual Adult versus Single-Kidney Transplantation: Evolution of a Surgical Technique

    Science.gov (United States)

    Islam, Ana K.; Mayer, Wesley A.; Hollander, Adam B.; Patel, Samir; Teeter, Larry D.; Graviss, Edward A.; Saharia, Ashish; Podder, Hemangshu; Asham, Emad H.; Gaber, A. Osama

    2016-01-01

    Background. Acceptance of dual kidney transplantation (DKT) has proven difficult, due to surgical complexity and concerns regarding long-term outcomes. We herein present a standard technique for ipsilateral DKT and compare outcomes to single-kidney transplant (SKT) recipients. Methods. A retrospective single-center comparison of DKT and SKT performed between February 2007 and July 2013. Results. Of 516 deceased donor kidney transplants, 29 were DKT and 487 were SKT. Mean follow-up was 43 ± 67 months. DKT recipients were older and more likely than SKT recipients to receive an extended criteria graft (p urologic complication rate in the DKT cohort (14 versus 2%, p urologic complication rate was reduced by modification of the ureteral anastomosis.

  19. Daughter and mother with orofaciodigital syndrome type 1 and glomerulocystic kidney disease.

    Science.gov (United States)

    Iijima, Takashi; Hoshino, Junichi; Mise, Koki; Sumida, Keiichi; Suwabe, Tatsuya; Hayami, Noriko; Ueno, Toshiharu; Takaichi, Kenmei; Fujii, Takeshi; Ohashi, Kenichi; Morisada, Naoya; Iijima, Kazumoto; Ubara, Yoshifumi

    2016-09-01

    A 35-year-old woman was admitted to our hospital for evaluation of end-stage renal failure. Diagnostic imaging, including ultrasonography and magnetic resonance imaging, showed polycystic kidneys and peribiliary hepatic cysts, but the renal cysts were isointense and her kidneys were smaller than the end-stage kidneys of patients with autosomal dominant polycystic kidney disease. Glomerulocystic kidney disease was diagnosed by renal biopsy. Clinical examination revealed findings such as a missing maxillary canine, lingual anomalies, and brachydactyly. Genetic testing gave a diagnosis of orofaciodigital syndrome type 1 with a 5 nucleotide deletion indicating a frameshift mutation in exon 9. The patient's mother had the same mutation and similar clinical findings. This case is useful for understanding kidney and liver involvement in orofaciodigital syndrome type 1. PMID:27131853

  20. One cases report:adult clear cell sarcoma of kidney%成人肾透明细胞肉瘤1例病例报道

    Institute of Scientific and Technical Information of China (English)

    江冬梅; 王凤玮

    2015-01-01

    Clear cell sarcoma of kidney(CCSK) is a rare and malignant sarcoma, whose the origin of organization is not clear,and most reports indicated the patients is children,but not adults.The sarcoma has hard prognosis and poor sur-vival rate.CCSK is similar to other renal malignant tumors very much in clinical and histological aspects,therefore,the differential diagnosis with other renal malignant tumor is very important.Now we report a case of an adult female pa-tients who was already diagnosed with CCSK of the kidney,and state the discrimination with CCSK of kidney and Wilms’tumor.%肾透明细胞肉瘤(CCSK)是一种组织来源尚未十分清楚的罕见软组织恶性肿瘤,该病多见于儿童,成人患者罕见。成人CCSK预后极差,生存期短。 CCSK临床表现和组织形态学与多种肾恶性肿瘤相似,误诊率较高,在患者预后和治疗方面,CCSK与其他肾恶性肿瘤差别较大,因此,CCSK与其他肾恶性肿瘤的鉴别诊断对于CCSK的确诊至关重要。本文报道我院1例已确诊为CCSK的成年女性患者,简要阐述该疾病与肾透明细胞癌、肾母细胞瘤的鉴别。

  1. STATINS IN POLYCYSTIC OVARY SYNDROME

    Directory of Open Access Journals (Sweden)

    P. S. Patel*, T. D. Goswami, A. D. Sharma and B. S. Arora

    2012-11-01

    Full Text Available Polycystic ovary syndrome (PCOS is the most common endocrine disorder in women. PCOS varies from a mild menstrual disorder to severe disturbance of reproductive and metabolic functions. Statins, 3-hydroxy-3-methyl-glutaryl-CoA (HMG-CoA reductase inhibitors with intrinsic antioxidant properties, exert profound and broad-reaching effects on various types of tissues. By blocking an early step of the mevalonate pathway, statins inhibit proliferation of several cell types including vascular smooth muscles, hepatocytes, and several neoplastic cell lines. The pleiotropic effects of statins may be due to inhibition of cholesterol synthesis. Some common treatments lifestyle changes, insulin-sensitizing agents.

  2. Impacts on Serum Leptin for the Patients with Polycystic Ovary Syndrome Treated with the Therapy for Tonifying the Kidney,Activating Blood Circulation and Resolving Phlegm%补肾活血化痰法对多囊卵巢综合征患者血清瘦素的影响

    Institute of Scientific and Technical Information of China (English)

    逯克娜; 林寒梅; 白华

    2012-01-01

    目的 观察补肾活血化痰法组方中药对多囊卵巢综合征(PCOS)患者血清瘦素(Leptin)水平变化的影响.方法 将90例PCOS患者随机分为三组,中药治疗组30例,采用补肾活血化痰法中药治疗;中西药治疗组30例,采用补肾活血化痰法中药+西药(达英-35+二甲双胍)治疗,对照组30例,采用达英-35+二甲双胍治疗,连续治疗3个月经周期.检测三组患者治疗前后血清中Leptin浓度以及卵泡刺激素(FSH)、黄体生成素(LH)、睾酮(T)数值,并进行比较.结果 治疗后三组LH 、LH/FSH 、T、Leptin水平均较治疗前降低,治疗前后组内比较差异有统计学意义(P<0.05);中药治疗组与西药对照组比较,对以上四组数值的影响并无明显优势(P>0.05),而中西医治疗组与西药对照组比较,虽然LH 、LH/FSH的治疗前后组间比较差异无统计学意义,但中西医治疗组T、Leptin水平比西药治疗组变化更为显著,组间比较差异有统计学意义(P<0.05).结论 补肾活血化痰中药联合达英-35、二甲双胍能有效降低PCOS患者的血清Leptin水平,治疗效果优于单纯使用中药或西药.%Objective To observe the impacts of serum leptin for the patients with polycystic ovary syndrome( PCOS )treated with the herbal recipe for tonifying the kidney, activating blood circulation and resolving phlegm. Method 90 cases of PCOS were randomized into three groups. In a Chinese medicine treatment group( 30 cases ), Chinese herbal therapy was adopted for tonifying the kidney, activating blood circulation and resolving phlegm. In an integrated Chinese and western medicine treatment group( 30 cases ), Chinese herbal therapy( tonifying the kidney, activating blood circulation and resolving phlegm ) + western medi-cine( Diane - 35 + metformin )was adopted. In a control group( 30 cases ), Diane-35 + metformin was a-dopted. The treatment lasted continuously for 3 menstrual cycles. The values of leptin concentration, follicle

  3. From Placenta to Polycystic Ovarian Syndrome: The Role of Adipokines

    Science.gov (United States)

    Sartori, Chiara; Lazzeroni, Pietro; Merli, Silvia; Patianna, Viviana Dora; Viaroli, Francesca; Cirillo, Francesca; Amarri, Sergio

    2016-01-01

    Adipokines are cytokines produced mainly by adipose tissue, besides many other tissues such as placenta, ovaries, peripheral-blood mononuclear cells, liver, muscle, kidney, heart, and bone marrow. Adipokines play a significant role in the metabolic syndrome and in cardiovascular diseases, have implications in regulating insulin sensitivity and inflammation, and have significant effects on growth and reproductive function. The objective of this review was to analyze the functions known today of adiponectin, leptin, resistin, and visfatin from placenta throughout childhood and adolescence. It is well known now that their serum concentrations during pregnancy and lactation have long-term effects beyond the fetus and newborn. With regard to puberty, adipokines are involved in the regulation of the relationship between nutritional status and normal physiology or disorders of puberty and altered gonadal function, as, for example, premature pubarche and polycystic ovarian syndrome (PCOS). Cytokines are involved in the maturation of oocytes and in the regular progression of puberty and pregnancy.

  4. Fetal programming of polycystic ovary syndrome.

    Science.gov (United States)

    Gur, Esra Bahar; Karadeniz, Muammer; Turan, Guluzar Arzu

    2015-07-10

    Polycystic ovary syndrome (PCOS) is a common endocrine disorder that affects up to 6.8% of reproductive age women. Experimental research and clinical observations suggest that PCOS may originate in the very early stages of development, possibly even during intrauterine life. This suggests that PCOS is either genetically-transmitted or is due to epigenetic alterations that develop in the intrauterine microenvironment. Although familial cases support the role of genetic factors, no specific genetic pattern has been defined in PCOS. Several candidate genes have been implicated in its pathogenesis, but none can specifically be implicated in PCOS development. Hypotheses based on the impact of the intrauterine environment on PCOS development can be grouped into two categories. The first is the "thrifty" phenotype hypothesis, which states that intrauterine nutritional restriction in fetuses causes decreased insulin secretion and, as a compensatory mechanism, insulin resistance. Additionally, an impaired nutritional environment can affect the methylation of some specific genes, which can also trigger PCOS. The second hypothesis postulates that fetal exposure to excess androgen can induce changes in differentiating tissues, causing the PCOS phenotype to develop in adult life. This review aimed to examine the role of fetal programming in development of PCOS. PMID:26185601

  5. Fetal programming of polycystic ovary syndrome

    Institute of Scientific and Technical Information of China (English)

    2015-01-01

    Polycystic ovary syndrome (PCOS) is a common endocrinedisorder that affects up to 6.8% of reproductive agewomen. Experimental research and clinical observationssuggest that PCOS may originate in the very early stagesof development, possibly even during intrauterine life.This suggests that PCOS is either genetically-transmittedor is due to epigenetic alterations that develop in theintrauterine microenvironment. Although familial casessupport the role of genetic factors, no specific geneticpattern has been defined in PCOS. Several candidategenes have been implicated in its pathogenesis, butnone can specifically be implicated in PCOS development.Hypotheses based on the impact of the intrauterineenvironment on PCOS development can be groupedinto two categories. The first is the "thrifty" phenotypehypothesis, which states that intrauterine nutritionalrestriction in fetuses causes decreased insulin secretionand, as a compensatory mechanism, insulin resistance.Additionally, an impaired nutritional environment canaffect the methylation of some specific genes, which canalso trigger PCOS. The second hypothesis postulates thatfetal exposure to excess androgen can induce changesin differentiating tissues, causing the PCOS phenotype todevelop in adult life. This review aimed to examine therole of fetal programming in development of PCOS.

  6. Polycystic ovary syndrome: a transgenerational evolutionary adaptation.

    Science.gov (United States)

    Shaw, L M A; Elton, S

    2008-01-01

    Polycystic ovary syndrome has a common association with anovulatory infertility, while the physical symptoms are often associated with the increased androgens that are part of the endocrine profile. There is a well-recognised association with lipid and glucose metabolism anomalies and, when undergoing ovulation induction, ovarian hyperstimulation syndrome. This common condition is familial, but a contributory gene has yet to be found. The question of why a gene that predisposes to anovulation, diabetes and heart disease might have perpetuated so frequently is addressed. Three hypotheses for evolutionary advantage are discussed. The food deprivation hypothesis considers the role of the observed increase in ovulation when women with the condition lose weight in relation to seasonality. The refeeding hypothesis considers the androgenic and slightly enhanced anabolic metabolism in relation to periods of privation and the advantage of preferential early ovulation when refeeding after a period of privation. The transgenerational privation hypothesis considers the effect of persistent, severe, yet subfatal privation on individuals both in utero and throughout life. While an androgenic, anabolic state would improve efficiency in the use of food for protein synthesis and fat storage, benefiting the fetus both in relation to its in utero development and neonatal survival, survival and reproductive capacity as an adult benefits by a genotype expressing itself in women of successive generations.

  7. Kidney Diseases

    Science.gov (United States)

    ... until you go to the bathroom. Most kidney diseases attack the nephrons. This damage may leave kidneys ... medicines. You have a higher risk of kidney disease if you have diabetes, high blood pressure, or ...

  8. Computed tomography of the kidney

    Energy Technology Data Exchange (ETDEWEB)

    Yoon, Young Kyun; Lee, Sun Wha; Kim, Soon Yong [Kyung Hee University Hospital, Seoul (Korea, Republic of)

    1980-12-15

    It is generally accepted that the computed tomography is an extremely accurate means to obtain more definite information on the diagnosis of renal masses, although the conventional excretory urography remains the primary tool in the diagnosis of renal disorders. The authors studied 62 cases of proven renal disorders among 758 abdominal CT scans performed during the period from Oct. 1977 to Jan. 1980 in Kyung Hee University Hospital. The results were as follows: 1. Of 23 simple renal cyst cases, 20 cases were found incidentally and 17 of them were over 50 years of age. 2. The CT scan have proved to be an extremely accurate means in differentiating benign renal cyst from neoplastic origin; based on attenuation value, demarcation from normal renal parenchyme and thickness of wall, especially the attenuation value. 3. CT scan holds great promise in diagnosing renal tumors, especially in staging of tumor and determining surgical feasibility and its approach. 4. Pathology and its extension of retroperitoneal space was demonstrated accurately by CT and cause of nonfunctioning kidney could be often explained without retrograde pyelography. 5. Associated polycystic changes in liver, spleen and pancreas to polycystic kidney was easily diagnosed by CT alone.

  9. Intermediate-Term Outcomes of Dual Adult versus Single-Kidney Transplantation: Evolution of a Surgical Technique

    Directory of Open Access Journals (Sweden)

    Ana K. Islam

    2016-01-01

    Full Text Available Background. Acceptance of dual kidney transplantation (DKT has proven difficult, due to surgical complexity and concerns regarding long-term outcomes. We herein present a standard technique for ipsilateral DKT and compare outcomes to single-kidney transplant (SKT recipients. Methods. A retrospective single-center comparison of DKT and SKT performed between February 2007 and July 2013. Results. Of 516 deceased donor kidney transplants, 29 were DKT and 487 were SKT. Mean follow-up was 43 ± 67 months. DKT recipients were older and more likely than SKT recipients to receive an extended criteria graft (p<0.001. For DKT versus SKT, the rates of delayed graft function (10.3 versus 9.2% and acute rejection (20.7 versus 22.4% were equivalent (p = ns. A higher than expected urologic complication rate in the DKT cohort (14 versus 2%, p<0.01 was reduced through modification of the ureteral anastomosis. Graft survival was equivalent between DKT and SKT groups (p = ns with actuarial 3-year DKT patient and graft survivals of 100% and 93%. At 3 years, the groups had similar renal function (p = ns. Conclusions. By utilizing extended criteria donor organs as DKT, the donor pool was enlarged while providing excellent patient and graft survival. The DKT urologic complication rate was reduced by modification of the ureteral anastomosis.

  10. Vanillin mitigates potassium bromate-induced molecular, biochemical and histopathological changes in the kidney of adult mice.

    Science.gov (United States)

    Ben Saad, Hajer; Driss, Dorra; Ellouz Chaabouni, Samia; Boudawara, Tahia; Zeghal, Khaled Mounir; Hakim, Ahmed; Ben Amara, Ibtissem

    2016-05-25

    The present study aimed to explore the ability of vanillin to ameliorate the adverse effects induced by potassium bromate (KBrO3) in the renal tissue. Our results showed a significant increase in hydrogen peroxide, superoxide anion, malondialdehyde, advanced oxidation protein product and protein carbonyl levels in the kidney of KBrO3 treated mice, compared with the control group. Nephrotoxicity was evidenced by a decrease in plasma uric acid and kidney glutathione levels, Na(+)-K(+)-ATPase, lactate dehydrogenase and catalase activities. Additionally, creatinine and urea levels significantly increased in the plasma and declined in the urine. Also, Kidney glutathione peroxidase, superoxide dismutase, metallothionein (MT1 and MT2) mRNA expression remarkably increased. These modifications in biochemical and molecular values were substantiated by histopathological data. Co-treatment with vanillin restored these parameters to near control values. Interestingly, vanillin proved to possess, in vitro, a stronger scavenging radical activity than vitamin C and Trolox. Thus, vanillin inhibited KBrO3-induced damage via its antioxidant and antiradical activities as well as its capacity to protect genes expression and histopathological changes. PMID:27074584

  11. Vanillin mitigates potassium bromate-induced molecular, biochemical and histopathological changes in the kidney of adult mice.

    Science.gov (United States)

    Ben Saad, Hajer; Driss, Dorra; Ellouz Chaabouni, Samia; Boudawara, Tahia; Zeghal, Khaled Mounir; Hakim, Ahmed; Ben Amara, Ibtissem

    2016-05-25

    The present study aimed to explore the ability of vanillin to ameliorate the adverse effects induced by potassium bromate (KBrO3) in the renal tissue. Our results showed a significant increase in hydrogen peroxide, superoxide anion, malondialdehyde, advanced oxidation protein product and protein carbonyl levels in the kidney of KBrO3 treated mice, compared with the control group. Nephrotoxicity was evidenced by a decrease in plasma uric acid and kidney glutathione levels, Na(+)-K(+)-ATPase, lactate dehydrogenase and catalase activities. Additionally, creatinine and urea levels significantly increased in the plasma and declined in the urine. Also, Kidney glutathione peroxidase, superoxide dismutase, metallothionein (MT1 and MT2) mRNA expression remarkably increased. These modifications in biochemical and molecular values were substantiated by histopathological data. Co-treatment with vanillin restored these parameters to near control values. Interestingly, vanillin proved to possess, in vitro, a stronger scavenging radical activity than vitamin C and Trolox. Thus, vanillin inhibited KBrO3-induced damage via its antioxidant and antiradical activities as well as its capacity to protect genes expression and histopathological changes.

  12. Quality of life/spirituality, religion and personal beliefs of adult and elderly chronic kidney patients under hemodialysis

    Directory of Open Access Journals (Sweden)

    Suzana Gabriela Rusa

    2014-12-01

    Full Text Available OBJECTIVE: to assess the quality of life of chronic kidney patients undergoing hemodialysis, using the WHOQOL-bref and WHOQOL-SRPB.METHOD: a descriptive and cross-sectional study was undertaken at a kidney replacement therapy service in the interior of the state of SP. The 110subjects who complied with the inclusion criteria answered the Subject Characterization Instrument, the WHOQOL-bref and WHOQOL-SRPB.RESULTS: most of the respondents were male (67.27%, with a mean age of 55.65 years, Catholic (55.45%, with unfinished primary education (33.64% and without formal occupation (79.08%. The WHOQOL-bref domains with the highest and lowest mean score were, respectively, "psychological" (µ=74.20 and "physical" (µ=61.14. The WHOQOL-SRPB domains with the highest and lowest mean score were, respectively, "completeness and integration" (µ=4.00 and "faith" (µ=4.40.CONCLUSIONS: the respondents showed high quality of life scores, specifically in the dimensions related to spirituality, religion and personal beliefs. Losses were evidenced in the physical domain of quality of life, possibly due to the changes resulting from the chronic kidney disease and hemodialysis treatment.

  13. Intermediate-Term Outcomes of Dual Adult versus Single-Kidney Transplantation: Evolution of a Surgical Technique.

    Science.gov (United States)

    Islam, Ana K; Knight, Richard J; Mayer, Wesley A; Hollander, Adam B; Patel, Samir; Teeter, Larry D; Graviss, Edward A; Saharia, Ashish; Podder, Hemangshu; Asham, Emad H; Gaber, A Osama

    2016-01-01

    Background. Acceptance of dual kidney transplantation (DKT) has proven difficult, due to surgical complexity and concerns regarding long-term outcomes. We herein present a standard technique for ipsilateral DKT and compare outcomes to single-kidney transplant (SKT) recipients. Methods. A retrospective single-center comparison of DKT and SKT performed between February 2007 and July 2013. Results. Of 516 deceased donor kidney transplants, 29 were DKT and 487 were SKT. Mean follow-up was 43 ± 67 months. DKT recipients were older and more likely than SKT recipients to receive an extended criteria graft (p < 0.001). For DKT versus SKT, the rates of delayed graft function (10.3 versus 9.2%) and acute rejection (20.7 versus 22.4%) were equivalent (p = ns). A higher than expected urologic complication rate in the DKT cohort (14 versus 2%, p < 0.01) was reduced through modification of the ureteral anastomosis. Graft survival was equivalent between DKT and SKT groups (p = ns) with actuarial 3-year DKT patient and graft survivals of 100% and 93%. At 3 years, the groups had similar renal function (p = ns). Conclusions. By utilizing extended criteria donor organs as DKT, the donor pool was enlarged while providing excellent patient and graft survival. The DKT urologic complication rate was reduced by modification of the ureteral anastomosis.

  14. Polycystic ovary syndrome: from phenotype to genetype

    NARCIS (Netherlands)

    Y.V. Louwers (Yvonne)

    2014-01-01

    markdownabstract__Abstract__ oligomenorrhea or amenorrhea, hirsutism or hyperandrogenism and polycystic ovarian morphology. Later in life, adverse metabolic implications, such as obesity, insulin resistance, type 2 diabetes and cardiovascular disease, become more prominent. In this thesis, we aimed

  15. 常染色体显性成人多囊肾病两家系PKD1、PKD2基因的突变鉴定%Identification of mutations in PKD1 and PKD2 genes in two Chinese families with autosomal dominant polycystic kidney disease

    Institute of Scientific and Technical Information of China (English)

    余朝文; 杨元; 张思仲

    2011-01-01

    Objective To identify the responsible mutation of autosomal dominant polycystic kidney disease (ADPKD) in two Chinese families.Methods Total genomic DNA of all available family members and 100 unrelated healthy controls was extracted from peripheral blood leukocytes using a standard phenol-chloroform procedure. All exons with intronic flanking sequences of the PKD1 and PKD2 genes in the probands were amplified by PCR.Mutations were detected directly by DNA sequencing.To evaluate the pathogenicity of the variations,family and control based analyses were performed.Results Five sequence variants were identified in the two families including PKD1:c.2469G>A,PKD1:c.5014_5015delAG,PKD1:c.10529C>T,PKD2:c.568G>A and PKD2:c.2020-1_2020delAG.Among them,PKD1:c.2469G> A and PKD2:c.2020-1 _ 2020 delAG were novel mutations. Furthermore,the frameshift and splicing site mutations detected in the affected individuals were not detected in their unaffected relatives and 100 unrelated normal controls.Conclusion PKD1:c.5014_5015delAG and PKD2:c.2020-1_2020delAG are the responsible mutations of family A and B,respectively,and PKD2:c.2020-1_2020delAG is a de novo mutation.%目的 鉴定两个常染色体显性成人多囊肾病家系的致病突变.方法 采用酚氯仿法提取家系成员及无亲缘关系的100名健康对照个体的外周血白细胞DNA,PCR扩增先证者致病基因PKD1、PKD2的所有外显子序列及其侧翼内含子剪切区域,直接测序确定DNA序列的变异.通过家系和正常对照的比较分析,对检测到的变异是否与疾病相关进行了初步探讨.结果 在两个家系中共检测到5个序列变异:PKD1:c.2469G>A,PKD1:c.5014_5015 delAG,PKD1:c.10529C>T,PKD2:c.568G>A和PKD2:c.2020-1_2020 delAG.其中PKD1:c.2469G>A和PKD2:c.2020-1_2020 delAG为新发现的变异.此外,检测到的移码突变和剪切突变未见于家系中健康成员及无亲缘关系的正常对照.结论 PKD1:c.5014_5015 delAG和PKD2:c.2020-1_2020 del

  16. Progresión de la Poliquistosis renal autosómica dominante: Influencia de polimorfismos de genes de sintasa endotelial del óxido nítrico (ecNOS y del sistema renina-angiotensina Glomerular filtration rate decline in autosomic dominant polycystic kidney disease. Influence of endothelial NO synthase (ecNOS and renin angiotensin system gene polymorphisms

    Directory of Open Access Journals (Sweden)

    Pablo Azurmendi

    2004-04-01

    Full Text Available La velocidad de progresión (VdP de la poliquistosis renal autosómica dominante (PQRAD es variable. Estudiamos la asociación de los polimorfismos AGTM235T (angiotensinógeno, AT1A1166C (ATR1 y ecNOSGlu298Asp (NO sintasa endotelial con la VdP en 88 pacientes. VdP fue estimada por 1/Cr pl vs edad. Consideramos edades de Cr pl 2 y 6 mg/dl como comienzo de progresión (E2 y arribo a insuficiencia renal crónica terminal (E6, respectivamente. Los polimorfismos se estudiaron por PCR-RFLP. El grupo en su totalidad presentó VdP (ml/min/año de 6.9±0.5, E2 y E6 de 48.9±1.3 y 55.0±1.4 años y tensión arterial media (TAM de 111.2±1.2 mmHg. Según E6 observamos dos grupos (£ y > a 55 años. En £ 55 (fenotipo PKD1, n=42, E2 y E6 del genotipo CC de AT1A1166C fueron 36.0±1.2 y 41.4±0.9 años vs. AA-AC (42.8±1.0 y 47.5±0.8, p Glomerular filtration rate decline (GFRd is variable in autosomic dominant polycystic kidney disease (ADPKD. In 88 ADPKD patients, GFRd was assessed by 1/S Cr and compared with the association to AT1A1166C (AT1R, AGTM235T (angiotensinogen and ecNOSGlu298Asp (NO endothelial synthase polymorphisms. Age at S Cr values of 2 and 6 mg/dl were assumed as beginning of progressive phase (A2 and end-stage-renal disease (A6, respectively. Polymorphisms were studied by PCR-RFLP. The group as a whole showed GFRd (ml/min/year of 6.9±0.5; A2 and A6 of 48.9±1.3 and 55.0±1.4 years and mean arterial pressure of 111.2±1.2 mmHg. When A6 was considered, two populations were defined (£ and > 55 years. In £ 55 (assumed as PKD1 phenotype (n=42, A2 and A6 of the AT11166CC genotype were 36.0±1.2 and 41.4±0.9 years vs AA-AC (42.8±1.0 and 47.5±0.8, p<0.001. A2 and A6 of the ecNOS298Asp/Asp genotype were 34.8±1.5 and 41.1±0.6 years vs. Glu/Glu-Glu/Asp (42.4±0.9 and 47.1±0.8, p<0.02. In AGT235TT genotype, GFRd was 12.4±2.2 ml/min/year vs MM-MT (7.9±0.7, p<0.03. This difference was also observed when all ADPKD patients were considered (TT

  17. 补肾化痰通络法加针刺治疗肥胖型多囊卵巢综合征的临床研究%Treating polycystic ovary syndrome with obesity by acupuncture combined with tonifying kidney, reducing phlegm and dredging collateral

    Institute of Scientific and Technical Information of China (English)

    苏健; 李亚敏; 田李军; 邵建英

    2013-01-01

    [目的]观察补肾化痰通络中药加针刺治疗肥胖型多囊卵巢综合征(PCOS)的临床疗效.[方法]将80例肥胖型PCOS患者随机分为中药组、中药加针刺组各40例.两组均建议运动和饮食控制相结合以减轻体质量,中药组口服补肾化痰通络中药,中药加针刺组中加用针刺治疗.两组均治疗3个月经周期,观察临床疗效,黄体生成素/卵泡刺激素(LH/FSH)、睾酮(T)、血糖(FPG)、胰岛素(FINS)的变化,评估胰岛素抵抗(IR).[结果]中药加针刺组总有效率为80.0%;中药组总有效率为67.5%.体重指数(BMI)、LH/FSH、T、FINS、IR两组治疗后较治疗前均明显降低(P<0.05),BMI、T、FINS、IR治疗后中药加针刺组明显低于中药组(P<0.05),LH/FSH两组治疗后差异无统计学意义(P>0.05);FPG两组治疗前后差异无统计学意义.[结论]补肾化痰通络中药加针刺治疗肥胖型PCOS临床疗效优于单纯应用中药组.%[Objective] To observe the clinical efficacy of tonifying kidney, reducing phlegm and dredging collateral in treating polycystic ovary syndrome (PCOS) with obesity. [Methods] The 80 patients with PCOS were randomly divided into Chinese medicine group and Chinese medicine plus acupuncture group. Reducing body weight through physical exercise and controlling diet were advised in both groups. Both groups were treated for three menstrual cycles. The hormone, including LH, FSH and FPG were measured and the insulin resistance (IR) was assessed by the fasting insulin (FINS). [Results] The total effective rate of the Chinese medicine plus acupuncture group was 80.0%, and 67.5% was in the Chinese medicine group only. After treatment BMI, LH/FSH, T, FINS and IR were significantly improved in both groups (P0.05). [Conclusion] The treatment efficacy of Chinese medicine plus dredging collateral in treating PCOS was superior to the simple application of traditional Chinese medicine.

  18. A retrospective study on management of gross hematuria in autosomal dominant polycystic kidney disease patients%常染色体显性多囊肾病患者并发肉眼血尿治疗方法的回顾研究

    Institute of Scientific and Technical Information of China (English)

    马熠熠; 陈冬平; 梅长林; 郁胜强; 戎殳; 张彤; 李林

    2012-01-01

    目的 寻找治疗常染色体显性多囊肾病(ADPKD)并发肉眼血尿的理想疗法.方法 1993年以来曾在我科住院治疗以及目前在我科多囊肾病专科门诊定期就诊随访的ADPKD患者为对象.收集ADPKD患者出现肉眼血尿时的平均年龄、性别构成、肾功能水平、诱发因素、治疗方案、症状持续时间、血小板计数、凝血参数、肾脏囊肿大小等资料,分别以不同的肉眼血尿诱发因素及治疗方案进行分组,比较其各指标间的差异.结果 共筛选出ADPKD患者905例.279例(男150例,女129例)曾有肉眼血尿病史,其中146例能提供完整的病史和治疗经过,而只有101例能提供相关的实验室检查结果.在这101例中,肉眼血尿可出现在慢性肾脏病(CKD)任何一期;GFR为(56.4±44.1)ml·min-1·(1.73 m2)-1;症状持续时间(8.8±8.0)d;男、女患者症状持续时间差异无统计学意义[(8.2±7.3)d比(9.5±8.8)d,P=0.426);凝血参数均在正常参考范围内,其中91例患者血小板计数正常.不同诱发因素导致的肉眼血尿持续时间差异有统计学意义(P<0.05).卧床休息组症状持续时间显著短于其他组患者(P<0.05).各组间血小板计数、凝血酶时间和国际标准化比值等差异无统计学意义.结论 对出现肉眼血尿的ADPKD患者应首先明确其诱因.卧床休息应作为核心治疗措施.在考虑使用止血药物时建议使用抗纤维蛋白溶解类药物,不需要预防性使用抗生索.%Objective To seauch the ideal management for gross hematuria in autosomal dominant polycystic kidney disease (ADPKD).Methods ADPKD patients who were ever hospitalized and followed up in our department since 1993 were enrolled in the study.Demographic and clinical data were colloected,such as gender,age of gross hematuria,level of renal function,causative factors,management strategies,duration of gross hematuria,blood platelet count,activated partial thromboplastin time,prothrombin time

  19. Polycystic Ovary Syndrome - diagnosis and treatment

    OpenAIRE

    Hussain, Amna

    2015-01-01

    Abstract: Polycystic ovary syndrome (PCOS) is a common endocrine and metabolic disorder, and a major cause of infertility in women. An excessive amount of androgen hormones are produced by polycystic ovaries in PCOS with irregular menstruation and anovulation as result. The most common early symptoms are infertility, hirsutism and acne. Type 2 diabetes mellitus, metabolic syndrome, and possibly cardiovascular disease and endometrial carcinoma are all associated as lifelong implications with t...

  20. Women's Health Implications of Polycystic Ovary Syndrome

    OpenAIRE

    Veltman-Verhulst, S.M.

    2012-01-01

    Polycystic Ovary Syndrome (PCOS) is a complex endocrine disorder of unknown etiology which affects approximately 12% of women. Principal features of PCOS are anovulation resulting in irregular or absent menstruation, excessive androgens (male sex hormones) and ovaries with multiple follicles (polycystic ovaries). PCOS has been associated with a variety of health complications of reproductive, metabolic, and psychological nature. Although PCOS is predominantly diagnosed in women of reproductiv...

  1. Pain determinants of pain in autosomal dominant polycystic kidney disease

    Directory of Open Access Journals (Sweden)

    José Luiz Nishiura

    2013-09-01

    Full Text Available Pain is the most common symptom reported by ADPKD patients, afflicting approximately 60% of cases and may result from renal hemorrhage, calculi, urinary tract infections, cyst rupture, or due to stretching of the capsule or traction of the renal pedicle. We have recently investigated pain patterns in AD-PKD patients using a translated version of a pain questionnaire specific for AD-PKD population. The questionnaire revealed that 67% patients with ADPKD exhibited some type of pain. The findings of that study emphasized that pain appeared early in the course of ADPKD, when patients still exhibited preserved renal function. In the present study, a multivariate logistic regression analysis disclosed that renal volume (9-fold increased risk and nephrolithiasis (4-fold increased risk were the most important determinant factors for pain in ADPKD patients with preserved renal function, after adjustments for the presence of hypertension and duration of the disease.

  2. Therapeutic role of sirolimus in non-transplant kidney disease.

    Science.gov (United States)

    Rangan, Gopala K; Nguyen, Tina; Mainra, Rahul; Succar, Lena; Schwensen, Kristina G; Burgess, Jane S; Ho, Kok On

    2009-08-01

    Sirolimus is a member of a novel class of immunosuppressant drug that potently suppresses T cell proliferation and expansion by inhibition of the Target of Rapamycin Complex 1 (TORC1) protein kinase. Sirolimus also has anti-proliferative effects on intrinsic cells of the kidney, and increasing evidence suggests that it may have a therapeutic role in non-transplant renal diseases. In the normal kidney, sirolimus is considered to be non-nephrotoxic. In the diseased kidney, sirolimus may be beneficial or detrimental, depending on the type of renal injury. In polycystic kidney disease, TORC1 activation mediates renal tubular epithelial cell (TEC) proliferation and cyst growth in animals, and Phase III clinical trials are underway to determine the effect of sirolimus in attenuating disease progression in humans. In contrast, in acute kidney injury, sirolimus transiently impairs proximal TEC regeneration and delays renal recovery. In animal models of lupus nephritis and diabetic kidney disease, sirolimus prevents disease progression. However, the efficacy of sirolimus in human glomerulonephritis as well as in diabetic chronic kidney disease remains unclear, as it paradoxically exacerbates renal dysfunction when the baseline glomerular filtration rate is low ( 300 mg/day). This may, in part, be due to inhibition of compensatory glomerular capillary repair through the suppression of endothelial cell proliferation and angiogenic growth factor production by podocytes. Therefore, at present, polycystic kidney disease is the most promising therapeutic application for sirolimus in non-transplant renal diseases, and further studies are needed to clarify its role in other situations. PMID:19374918

  3. Measurement of Healthy Adult Kidney's Range of Motion by Cine-MRI%Cine-MRI测量健康成年人肾脏运动幅度

    Institute of Scientific and Technical Information of China (English)

    范文骏; 龙淼淼; 沈文; 倪红艳; 黄黎香

    2013-01-01

    目的 通过电影磁共振成像(Cine-MRI)技术观察健康成年人平静规律呼吸状态下双肾运动幅度.资料与方法 选取57名健康成年志愿者(男28名,女29名),于平静规律呼吸状态下进行与双肾长轴平行的斜冠状面Cine-MRI检查,测量一次完整呼吸过程中双肾下极运动幅度,比较双侧肾脏及不同性别间肾脏运动幅度的差异.结果 Cine-MRI测得健康成年人平静规律呼吸状态下右肾运动幅度为5.6~16.5 mm,平均(9.5±2.1) mm;左肾运动幅度为4.5~13.9 mm,平均(8.1±2.0) mm;双侧肾脏运动幅度比较,差异有统计学意义(t=9.30,P<0.05);男性左、右侧肾脏运动幅度分别为(8.7±2.0) mm和(10.3±2.2) mm,均大于女性对应侧肾脏运动幅度[分别为(7.5±1.8) mm和(8.8±1.7) mm],差异有统计学意义(t=2.82、4.41,P<0.05).结论 平静规律呼吸状态下斜冠状面上右肾运动幅度大于左肾,在进行功能磁共振成像时宜选用左肾数据作为参照标准,尤其是当受检者为男性时.%Purpose To observe the healthy adult kidneys' range of motion in the calm regular breathing state through Cine-MRI.Materials and Methods Cine-MRI was applied to 57 healthy adult volunteers (28 male,29 female) on oblique coronal plane parallel to the long axis of the kidneys in a state of calm regular breathing.The range of motion of lower renal pole was measured in the process of a full breathing,and was compared between the double kidneys and between different gender.Results The range of motion of the right and left kidney of healthy adult was from 5.6 mm to 16.5 mm,mean (9.5 ±2.1) mm; and 4.5mm to 13.9 mm,mean (8.1 ±2.0) mm,respectively,and it was demonstrated significant difference between bilateral kidneys (t=9.30,P<0.05).The range of motion of left and right kidney of the male subjects were (8.7± 2.0) mm and (10.3 ± 2.2) mm,which were larger than those of female subjects [(7.5±1.8) mm and (8.8± 1.7) mm],and it revealed the significant

  4. Epidemiology, diagnosis, and management of polycystic ovary syndrome

    Directory of Open Access Journals (Sweden)

    Sirmans SM

    2013-12-01

    Full Text Available Susan M Sirmans, Kristen A PateDepartment of Clinical and Administrative Sciences, College of Pharmacy, University of Louisiana at Monroe, Monroe, LA, USAAbstract: Polycystic ovary syndrome (PCOS is a common heterogeneous endocrine disorder characterized by irregular menses, hyperandrogenism, and polycystic ovaries. The prevalence of PCOS varies depending on which criteria are used to make the diagnosis, but is as high as 15%–20% when the European Society for Human Reproduction and Embryology/American Society for Reproductive Medicine criteria are used. Clinical manifestations include oligomenorrhea or amenorrhea, hirsutism, and frequently infertility. Risk factors for PCOS in adults includes type 1 diabetes, type 2 diabetes, and gestational diabetes. Insulin resistance affects 50%–70% of women with PCOS leading to a number of comorbidities including metabolic syndrome, hypertension, dyslipidemia, glucose intolerance, and diabetes. Studies show that women with PCOS are more likely to have increased coronary artery calcium scores and increased carotid intima-media thickness. Mental health disorders including depression, anxiety, bipolar disorder and binge eating disorder also occur more frequently in women with PCOS. Weight loss improves menstrual irregularities, symptoms of androgen excess, and infertility. Management of clinical manifestations of PCOS includes oral contraceptives for menstrual irregularities and hirsutism. Spironolactone and finasteride are used to treat symptoms of androgen excess. Treatment options for infertility include clomiphene, laparoscopic ovarian drilling, gonadotropins, and assisted reproductive technology. Recent data suggest that letrozole and metformin may play an important role in ovulation induction. Proper diagnosis and management of PCOS is essential to address patient concerns but also to prevent future metabolic, endocrine, psychiatric, and cardiovascular complications.Keywords: polycystic ovary syndrome

  5. Dioxin (TCDD induces epigenetic transgenerational inheritance of adult onset disease and sperm epimutations.

    Directory of Open Access Journals (Sweden)

    Mohan Manikkam

    Full Text Available Environmental compounds can promote epigenetic transgenerational inheritance of adult-onset disease in subsequent generations following ancestral exposure during fetal gonadal sex determination. The current study examined the ability of dioxin (2,3,7,8-tetrachlorodibenzo[p]dioxin, TCDD to promote epigenetic transgenerational inheritance of disease and DNA methylation epimutations in sperm. Gestating F0 generation females were exposed to dioxin during fetal day 8 to 14 and adult-onset disease was evaluated in F1 and F3 generation rats. The incidences of total disease and multiple disease increased in F1 and F3 generations. Prostate disease, ovarian primordial follicle loss and polycystic ovary disease were increased in F1 generation dioxin lineage. Kidney disease in males, pubertal abnormalities in females, ovarian primordial follicle loss and polycystic ovary disease were increased in F3 generation dioxin lineage animals. Analysis of the F3 generation sperm epigenome identified 50 differentially DNA methylated regions (DMR in gene promoters. These DMR provide potential epigenetic biomarkers for transgenerational disease and ancestral environmental exposures. Observations demonstrate dioxin exposure of a gestating female promotes epigenetic transgenerational inheritance of adult onset disease and sperm epimutations.

  6. Nutrition and dietary intake and their association with mortality and hospitalisation in adults with chronic kidney disease treated with haemodialysis: protocol for DIET-HD, a prospective multinational cohort study

    NARCIS (Netherlands)

    Palmer, S.C.; Ruospo, M.; Campbell, K.L.; Garcia Larsen, V.; Saglimbene, V.; Natale, P.; Gargano, L.; Craig, J.C.; Johnson, D.W.; Tonelli, M.; Knight, J.; Bednarek-Skublewska, A.; Celia, E.; Castillo, D. Del; Dulawa, J.; Ecder, T.; Fabricius, E.; Frazao, J.M.; Gelfman, R.; Hoischen, S.H.; Schon, S.; Stroumza, P.; Timofte, D.; Torok, M.; Hegbrant, J.; Wollheim, C.; Frantzen, L.; Strippoli, G.F.; Steiner, K.

    2015-01-01

    INTRODUCTION: Adults with end-stage kidney disease (ESKD) treated with haemodialysis experience mortality of between 15% and 20% each year. Effective interventions that improve health outcomes for long-term dialysis patients remain unproven. Novel and testable determinants of health in dialysis are

  7. Overweight in polycystic ovary syndrome

    DEFF Research Database (Denmark)

    Ravn, P; Haugen, A G; Glintborg, D

    2013-01-01

    Aim: Polycystic ovary syndrome (PCOS) is the most common endocrine disorder in premenopausal women affecting 5-10%. Nearly 50% are overweight or obese, which result in a more severe phenotype of PCOS. Weight loss is therefore considered the first line treatment in overweight women with PCOS....... The aim of this study was to appoint evidence based and clinically applicable advises on weight loss in overweight women with PCOS. Methods: A review of the existing literature on weight loss through lifestyle modification and/or metformin treatment in overweight women with PCOS. The primary outcome...... style changes, preferably a low calorie diet, should be the first line treatment in overweight/obese women with PCOS. Metformin can be considered as an additional treatment but has subtle additive effect....

  8. Estimating kidney function in HIV-infected adults in Kenya: comparison to a direct measure of glomerular filtration rate by iohexol clearance.

    Directory of Open Access Journals (Sweden)

    Christina M Wyatt

    Full Text Available BACKGROUND: More than two-thirds of the world's HIV-positive individuals live in sub-Saharan Africa, where genetic susceptibility to kidney disease is high and resources for kidney disease screening and antiretroviral therapy (ART toxicity monitoring are limited. Equations to estimate glomerular filtration rate (GFR from serum creatinine were derived in Western populations and may be less accurate in this population. METHODS: We compared results from published GFR estimating equations with a direct measure of GFR by iohexol clearance in 99 HIV-infected, ART-naïve Kenyan adults. Iohexol concentration was measured from dried blood spots on filter paper. The bias ratio (mean of the ratio of estimated to measured GFR and accuracy (percentage of estimates within 30% of the measured GFR were calculated. RESULTS: The median age was 35 years, and 60% were women. The majority had asymptomatic HIV, with median CD4+ cell count of 355 cells/mm(3. Median measured GFR was 115 mL/min/1.73 m(2. Overall accuracy was highest for the Chronic Kidney Disease Epidemiology Consortium (CKD-EPI equation. Consistent with a prior report, bias and accuracy were improved by eliminating the coefficient for black race (85% of estimates within 30% of measured GFR. Accuracy of all equations was poor in participants with GFR 60-90 mL/min/1.73 m(2 (<65% of estimates within 30% of measured GFR, although this subgroup was too small to reach definitive conclusions. CONCLUSIONS: Overall accuracy was highest for the CKD-EPI equation. Eliminating the coefficient for race further improved performance. Future studies are needed to determine the most accurate GFR estimate for use in individuals with GFR <90 mL/min/1.73 m(2, in whom accurate estimation of kidney function is important to guide drug dosing. Direct measurement of GFR by iohexol clearance using a filter paper based assay is feasible for research purposes in resource-limited settings, and could be used to develop more accurate

  9. Epidemiology, diagnosis, and management of polycystic ovary syndrome.

    Science.gov (United States)

    Sirmans, Susan M; Pate, Kristen A

    2013-01-01

    Polycystic ovary syndrome (PCOS) is a common heterogeneous endocrine disorder characterized by irregular menses, hyperandrogenism, and polycystic ovaries. The prevalence of PCOS varies depending on which criteria are used to make the diagnosis, but is as high as 15%-20% when the European Society for Human Reproduction and Embryology/American Society for Reproductive Medicine criteria are used. Clinical manifestations include oligomenorrhea or amenorrhea, hirsutism, and frequently infertility. Risk factors for PCOS in adults includes type 1 diabetes, type 2 diabetes, and gestational diabetes. Insulin resistance affects 50%-70% of women with PCOS leading to a number of comorbidities including metabolic syndrome, hypertension, dyslipidemia, glucose intolerance, and diabetes. Studies show that women with PCOS are more likely to have increased coronary artery calcium scores and increased carotid intima-media thickness. Mental health disorders including depression, anxiety, bipolar disorder and binge eating disorder also occur more frequently in women with PCOS. Weight loss improves menstrual irregularities, symptoms of androgen excess, and infertility. Management of clinical manifestations of PCOS includes oral contraceptives for menstrual irregularities and hirsutism. Spironolactone and finasteride are used to treat symptoms of androgen excess. Treatment options for infertility include clomiphene, laparoscopic ovarian drilling, gonadotropins, and assisted reproductive technology. Recent data suggest that letrozole and metformin may play an important role in ovulation induction. Proper diagnosis and management of PCOS is essential to address patient concerns but also to prevent future metabolic, endocrine, psychiatric, and cardiovascular complications. PMID:24379699

  10. Immunohistochemical localization of glutathione-S-transferase and glutathione peroxidase in adult Syrian hamster tissues and during kidney development.

    OpenAIRE

    Oberley, T. D.; Oberley, L. W.; Slattery, A. F.; Elwell, J. H.

    1991-01-01

    Tissues from adult Syrian hamsters were studied with immunoperoxidase techniques using polyclonal antibodies to glutathione-S-transferase (rat liver and human placental enzymes) and human erythrocyte glutathione peroxidase. Most tissues immunostained similarly with these antibodies. Most notable was the cytoplasmic staining of mesenchyme tissues, especially smooth muscle, by all three antibodies. Epithelial cells stained distinctively, but usually less intensely than mesenchyme. Epithelial ce...

  11. Valproate, bipolar disorder and polycystic ovarian syndrome

    Directory of Open Access Journals (Sweden)

    Okanović Milana

    2016-01-01

    Full Text Available Introduction. Polycystic ovarian syndrome is a syndrome of ovarian dysfunction with the principal features of hyperandrogenism and polycystic ovary morphology. A large number of studies conducted on this topic have suggested a possible role of anticonvulsants, particularly valproate, in the pathogenesis or risk factors associated with polycystic ovarian syndrome. Bipolar treatment guidelines from Canada and the United States of America recommend valproate as the first line strategy in the acute treatment of bipolar disorder. Discussion. Most persons with bipolar disorder require maintenance treatment. Long-term administration of valproate in women with bipolar disorder or epilepsy is believed to result in the increased risk of hyperandro­genism, menstrual abnormalities and polycystic ovaries. Valproate may also increase the risk of infertility and other associated symptoms of polycystic ovarian syndrome. Therefore, particular caution is indicated in the use of valproate in women of reproductive age. Conclusion. The treatment of the female patients with bipolar disorder presents various challenges for the clinician. Every woman of reproductive age needs to know the risk and benefits of her pharmacologic treatment options. Bipolar disorder should be considered chronic disorder, whose development is largely affected by hormonal changes and reproductive cycle in women. These issues should be researched more thoroughly in order to opt for the most appropriate treatment in women with bipolar disorder.

  12. Kidney Disease

    Science.gov (United States)

    ... build up in the body. Kidney Function and Aging Kidney function may be reduced with aging. As ... more sensitive to certain medicines. For example, nonsteroidal anti-inflammatory drugs (NSAIDs) and some antibiotics may harm ...

  13. Kidney Failure

    Science.gov (United States)

    ... York Golf Classic The 11th Annual New York Golf Classic Each August, supporters in our Northeast Region hit the links in support of AKF. Kidney Action Day Kidney Action Day Learn about our signature outreach event. Free health screenings ...

  14. Kidney School

    Science.gov (United States)

    ... licensing agreement Kidneys: How They Work, How They Fail, What You Can Do For people at any ... Kidney School is a program of the Medical Education Institute, Inc. , a 501(c)(3) organization, © 2002– ...

  15. Kidney Disease

    Science.gov (United States)

    ... and other mineral levels. Common Kidney Conditions in Teens Sometimes, the kidneys aren't able to do ... conditions is a renal ultrasound . Like the ultrasound pictures that pregnant women get of their fetuses, a ...

  16. Kidney Failure

    Science.gov (United States)

    Healthy kidneys clean your blood by removing excess fluid, minerals, and wastes. They also make hormones that keep your ... strong and your blood healthy. But if the kidneys are damaged, they don't work properly. Harmful ...

  17. The effect of high dietary fructose on the kidney of adult albino rats and the role of curcumin supplementation: A biochemical and histological study

    Directory of Open Access Journals (Sweden)

    Samraa H. Abdel-Kawi

    2016-03-01

    Conclusion: Curcumin administration protected the kidney cells from fructose induced oxidative stress by increasing the antioxidant defence mechanism of the kidney cells and its ability to act as a free radical scavenger.

  18. Age, kidney function, and risk factors associate differently with cortical and medullary volumes of the kidney

    OpenAIRE

    Wang, Xiangling; Vrtiska, Terri J.; Avula, Ramesh T.; Walters, Leah R.; Chakkera, Harini A.; Kremers, Walter K.; Lerman, Lilach O; Rule, Andrew D

    2013-01-01

    The kidney atrophies in patients with advanced chronic kidney disease (CKD) but factors influencing kidney size in normal adults are less clear. To help define this we measured kidney volumes on contrast-enhanced CT images from 1344 potential kidney donors (ages 18 to 75 years). Cortical volume per body surface area progressively declined in both genders with increased age. Statistically, this was primarily dependent on the age-related decline in glomerular filtration rate (GFR). Independent ...

  19. Kidney Problems

    Science.gov (United States)

    ... Home & Community Home › Aging & Health A to Z › Kidney Problems Font size A A A Print Share Glossary Basic Facts & ... The kidneys also help maintain body fluids at normal levels. In addition, the kidneys play important roles in controlling blood pressure and ...

  20. Diagnosis and Treatment of Polycystic Ovary Syndrome.

    Science.gov (United States)

    Williams, Tracy; Mortada, Rami; Porter, Samuel

    2016-07-15

    Polycystic ovary syndrome is the most common endocrinopathy among reproductive-aged women in the United States, affecting approximately 7% of female patients. Although the pathophysiology of the syndrome is complex and there is no single defect from which it is known to result, it is hypothesized that insulin resistance is a key factor. Metabolic syndrome is twice as common in patients with polycystic ovary syndrome compared with the general population, and patients with polycystic ovary syndrome are four times more likely than the general population to develop type 2 diabetes mellitus. Patient presentation is variable, ranging from asymptomatic to having multiple gynecologic, dermatologic, or metabolic manifestations. Guidelines from the Endocrine Society recommend using the Rotterdam criteria for diagnosis, which mandate the presence of two of the following three findings- hyperandrogenism, ovulatory dysfunction, and polycystic ovaries-plus the exclusion of other diagnoses that could result in hyperandrogenism or ovulatory dysfunction. It is reasonable to delay evaluation for polycystic ovary syndrome in adolescent patients until two years after menarche. For this age group, it is also recommended that all three Rotterdam criteria be met before the diagnosis is made. Patients who have marked virilization or rapid onset of symptoms require immediate evaluation for a potential androgen-secreting tumor. Treatment of polycystic ovary syndrome is individualized based on the patient's presentation and desire for pregnancy. For patients who are overweight, weight loss is recommended. Clomiphene and letrozole are first-line medications for infertility. Metformin is the first-line medication for metabolic manifestations, such as hyperglycemia. Hormonal contraceptives are first-line therapy for irregular menses and dermatologic manifestations. PMID:27419327

  1. Clinical outcomes of liver transplantation for polycystic liver disease: a single center experience.

    Science.gov (United States)

    Chandok, Natasha; Uhanova, Julia; Marotta, Paul

    2010-01-01

    Polycystic liver disease (PLD) is a celiopathy characterized by progressive growth of multiple hepatic cysts. In a minority of patients, severe symptomatic hepatomegaly necessitates liver transplantation (LT). The purpose of this study is to describe the postoperative and long-term outcomes of all patients transplanted for PLD at our center. All patients who underwent LT for PLD were identified through our database. Using patient charts, data were extracted on patient demographics and medical history, postoperative surgical and medical complications, length of hospitalization, prevalence of chronic kidney failure, and patient and graft survival. Subjects were contacted in April 2010 to verify their survival and confirm their need, if any, for hemodialysis and/or kidney transplantation. Descriptive statistics for patient and graft survival were performed. From 1993 to 2010, 14 subjects underwent LT and 1 subject underwent combined kidney and LT; all subjects were female and the mean age was 49.0 years. 10 (66.7%) subjects had polycystic kidney disease. Patients experienced a high rate of vascular complications, including hepatic artery thrombosis (HAT) or stenosis in 3 (20%) and 2 (13.3%) subjects, respectively. One subject had early graft loss due to HAT and underwent re-transplantation. The mean length of hospitalization was 18.8 days. After a mean of 66.8 months of follow-up (3-200), 13 (86.7%) subjects are alive with satisfactory graft function, and no patients had renal failure. In conclusion, patients who underwent LT for PLD had a high rate of postoperative vascular complications. However, long-term patient and graft survival, and kidney function, is excellent. PMID:20720268

  2. Polycystic ovary syndrome (PCOS) and endocrine disrupting chemicals (EDCs).

    Science.gov (United States)

    Palioura, Eleni; Diamanti-Kandarakis, Evanthia

    2015-12-01

    Polycystic ovary syndrome (PCOS) is a heterogeneous disorder of unclear etiopathogenesis that is likely to involve genetic and environmental components synergistically contributing to its phenotypic expression. Endocrine disrupting chemicals (EDCs) and in particular Bisphenol A (BPA) represent a group of widespread pollutants intensively investigated as possible environmental contributors to PCOS pathogenesis. Substantial evidence from in vitro and animal studies incriminates endocrine disruptors in the induction of reproductive and metabolic aberrations resembling PCOS characteristics. In humans, elevated BPA concentrations are observed in adolescents and adult PCOS women compared to reproductively healthy ones and are positively correlated with hyperandrogenemia, implying a potential role of the chemical in PCOS pathophysiology, although a causal interference cannot yet be established. It is plausible that developmental exposure to specific EDCs could permanently alter neuroendocrine, reproductive and metabolic regulation favoring PCOS development in genetically predisposed individuals or it could accelerate and/or exacerbate the natural course of the syndrome throughout life cycle exposure.

  3. Polycystic ovary syndrome (PCOS) and endocrine disrupting chemicals (EDCs).

    Science.gov (United States)

    Palioura, Eleni; Diamanti-Kandarakis, Evanthia

    2015-12-01

    Polycystic ovary syndrome (PCOS) is a heterogeneous disorder of unclear etiopathogenesis that is likely to involve genetic and environmental components synergistically contributing to its phenotypic expression. Endocrine disrupting chemicals (EDCs) and in particular Bisphenol A (BPA) represent a group of widespread pollutants intensively investigated as possible environmental contributors to PCOS pathogenesis. Substantial evidence from in vitro and animal studies incriminates endocrine disruptors in the induction of reproductive and metabolic aberrations resembling PCOS characteristics. In humans, elevated BPA concentrations are observed in adolescents and adult PCOS women compared to reproductively healthy ones and are positively correlated with hyperandrogenemia, implying a potential role of the chemical in PCOS pathophysiology, although a causal interference cannot yet be established. It is plausible that developmental exposure to specific EDCs could permanently alter neuroendocrine, reproductive and metabolic regulation favoring PCOS development in genetically predisposed individuals or it could accelerate and/or exacerbate the natural course of the syndrome throughout life cycle exposure. PMID:26825073

  4. Case Report: Kikuchi-Fujimoto disease: a diagnostic and therapeutic dilemma following pretransplant nephrectomy for a 2.35 Kg kidney.

    Science.gov (United States)

    Ganpule, Arvind P; Chabra, Jaspreet Singh; Singh, Abhishek G; Tak, Gopal R; Soni, Shailesh; Sabnis, Ravindra; Desai, Mahesh

    2016-01-01

    Kikuchi-Fujimoto disease (KFD) is an extremely rare disease with a worldwide distribution and higher prevalence in Asians. It is a benign and self-limiting disorder, characterized by regional cervical lymphadenopathy accompanied with mild fever and night sweats. Lymph node histopathology is diagnostic and treating physicians should be aware of this entity as it may mimic other systemic diseases like systemic lupus erythematosus, tuberculosis, malignant lymphoma, and more rarely adenocarcinoma. Key features on lymph node biopsy are fragmentation, necrosis and karyorrhexis. Treatment includes symptomatic care, analgesics-antipyretics, corticosteroids and spontaneous recovery occurs in 1 to 4 months. We report a case of adult polycystic kidney disease (ADPKD) with end stage renal disease and episodes of fever and cervical lymphadenopathy. The infectious screen was negative and on extensive workup, the patient was found to have histiocytic-necrotizing lymphadenitis, which clinched the diagnosis of KFD. PMID:27408688

  5. Donor-Reactive T-cell Responses after HLA-Identical Living-Related Kidney Transplantation

    NARCIS (Netherlands)

    J.H. Gerrits (Jeroen)

    2010-01-01

    textabstractKidney transplantation is the preferred treatment of choice for almost all categories of patients with end-stage-renal disease (ESRD) including those with hypertension, glomerulonephritis, diabetes mellitus and genetic causes as polycystic renal disease. Transplanted patients will live a

  6. The role of urinary peptidomics in kidney disease research.

    Science.gov (United States)

    Klein, Julie; Bascands, Jean-Loup; Mischak, Harald; Schanstra, Joost P

    2016-03-01

    Urinary peptidomics focuses on endogenous urinary peptide content. Many studies now show the usefulness of this approach for the discovery and validation of biomarkers in kidney diseases that are as varied as chronic kidney disease, acute kidney injury, congenital anomalies of the kidney and the urinary tract, and polycystic kidney disease. Most studies focus on chronic kidney disease and demonstrate that urinary peptidome analysis can substantially contribute to early detection and stratification of patients with chronic kidney disease. A number of multicenter studies are ongoing that aim further validation in a clinical setting and broaden the applicability of urinary peptides. The association of urinary peptides with kidney disease also starts to deliver information on the pathophysiology of kidney disease with emphasis on extracellular matrix remodeling. Bioinformatic peptide centric tools have been developed that allow to model the changes in protease activity involved in kidney disease, based on the urinary peptidome content. A novel application of urinary peptidome analysis is the back-translation of results obtained in humans to animals for animal model validation and improvement of readout in these preclinical models. In conclusion, urinary peptidomics not only contribute to detection and stratification of kidney disease in the clinic, but might also create a new impulse in drug discovery through better insight in the pathophysiology of disease and optimized translatability of animal models. PMID:26880450

  7. Patient and provider determinants of nephrology referral in older adults with severe chronic kidney disease: a survey of provider decision making

    Directory of Open Access Journals (Sweden)

    O'Hare Ann M

    2011-09-01

    Full Text Available Abstract Background Although chronic kidney disease (CKD disproportionately affects older adults, they are less likely to be referred to a nephrologist. Factors that influence the referral decisions of primary care providers (PCPs specifically for older CKD patients have been incompletely described. Patient factors such as dementia, functional disability, and co-morbidity may complicate the decision to refer an older adult. This study evaluated the role of patient and PCP factors in the referral decisions for older adults with stage 4 CKD. Methods We administered a two-part survey to study the decisions of practicing PCPs. First, using a blocked factorial design, vignettes systematically varied 6 patient characteristics: age, race, gender, co-morbidity, functional status, and cognitive status. CKD severity, patient preferences, and degree of anemia were held constant. Second, covariates from a standard questionnaire included PCP estimates of life expectancy, demographics, reaction to clinical uncertainty, and risk aversion. The main outcome was the decision to refer to the nephrologist. Random effects logistic regression models tested independent associations of predictor variables with the referral decision. Results More than half (62.5% of all PCP decisions (n = 680 were to refer to a nephrologist. Vignette-based factors that independently decreased referral included older patient age (OR = 0.27; 95% CI, 0.15 to 0.48 and having moderate dementia (OR = 0.14; 95%CI, 0.07 to 0.25. There were no associations between co-morbidity or impaired functional activity with the referral decision. Survey-based PCP factors that significantly increased the referral likelihood include female gender (OR = 7.75; 95%CI, 2.07 to 28.93, non-white race (OR = 30.29; 95%CI, 1.30 to 703.73, those who expect nephrologists to discuss goals of care (OR = 53.13; 95%CI, 2.42 to 1168.00, those with higher levels of anxiety about uncertainty (OR = 1.28; 95%CI, 1.04 to 1

  8. ELISA-Based Segregation of Adult Spring Chinook Salmon for Control of Bacterial Kidney Disease, Annual Report FY 1989.

    Energy Technology Data Exchange (ETDEWEB)

    Kaattari, Stephen L.; Winton, James R.

    1989-12-01

    Bacterial kidney disease (BKD), caused by Renibacterium salmoninarum, is a serious disease of salmonid fish worldwide. The disease has a major impact on spring chinook salmon populations in the Columbia River system. There is strong evidence that R. safmoninarum can be transmitted from parent to progeny, and therefore culling of gametes from infected parents should obviate this mode of transmission. This report presents the results from the first year of our four year study to investigate segregation of broodstock as a tool for controlling BKD. The segregations will use Enzyme-Linked Immunosorbent Assays (ELISAs) as detection systems to identify, in tissues of infected fish, proteins produced by R. salmoninarum. A first step in the development of the described detection systems was the optimization of the production of important antigenic proteins from R. salmoninarum. Different culture media were qualitatively and quantitatively evaluated for their ability to support production of cellular and soluble proteins. The major factor affecting antigen quality was the presence and absence of calf serum. Media components and R. salmoninarum growth products could not be separated during harvest of proteins from the cultures containing serum. This caused problems with the quantitation of actual bacterial proteins in the preparation. Thus media without serum is currently employed. Two independent ELISA techniques for the identification of infected parents were examined. One technique is based on polyclonal antisera produced in rabbits and the second is based on mouse monoclonal antibodies (Mabs). To develop the latter system, several Mabs against a major R. salmoninarum antigenic protein were produced. These Mabs were used for the detection of R. salmoninarum antigens in infected fish and also to characterize proteins produced by the bacterium. Both ELISAs were deemed suitable for the segregation of parents into the high and low BKD groups required for this study. An

  9. Transitional Care and Adherence of Adolescents and Young Adults After Kidney Transplantation in Germany and Austria: A Binational Observatory Census Within the TRANSNephro Trial.

    Science.gov (United States)

    Kreuzer, Martin; Prüfe, Jenny; Oldhafer, Martina; Bethe, Dirk; Dierks, Marie-Luise; Müther, Silvia; Thumfart, Julia; Hoppe, Bernd; Büscher, Anja; Rascher, Wolfgang; Hansen, Matthias; Pohl, Martin; Kemper, Markus J; Drube, Jens; Rieger, Susanne; John, Ulrike; Taylan, Christina; Dittrich, Katalin; Hollenbach, Sabine; Klaus, Günter; Fehrenbach, Henry; Kranz, Birgitta; Montoya, Carmen; Lange-Sperandio, Bärbel; Ruckenbrodt, Bettina; Billing, Heiko; Staude, Hagen; Heindl-Rusai, Krisztina; Brunkhorst, Reinhard; Pape, Lars

    2015-12-01

    Transition from child to adult-oriented care is widely regarded a challenging period for young people with kidney transplants and is associated with a high risk of graft failure. We analyzed the existing transition structures in Germany and Austria using a questionnaire and retrospective data of 119 patients transferred in 2011 to 2012. Most centers (73%) confirmed agreements on the transition procedure. Patients' age at transfer was subject to regulation in 73% (18 years). Median age at transition was 18.3 years (16.5-36.7). Median serum creatinine increased from 123 to 132 μmol/L over the 12 month observation period before transfer (P = 0.002). A total of 25/119 patients showed increased creatinine ≥ 20% just before transfer. Biopsy proven rejection was found in 10/119 patients. Three patients lost their graft due to chronic graft nephropathy.Mean coefficient of variation (CoV%) of immunosuppression levels was 0.20 ± 0.1. Increased creatinine levels ≥ 20% just before transfer were less frequently seen in patients with CoV < 0.20 (P = 0.007). The majority of pediatric nephrology centers have internal agreements on transitional care. More than half of the patients had CoV of immunosuppression trough levels consistent with good adherence. Although, 20% of the patients showed increase in serum creatinine close to transfer.

  10. The gene encoding the VP16-accessory protein HCF (HCFC1) resides in human Xq28 and is highly expressed in fetal tissues and the adult kidney

    Energy Technology Data Exchange (ETDEWEB)

    Wilson, A.C.; Herr, W. [Cold Spring Harbor, New York, NY (United States); Parrish, J.E. [Baylor College of Medicine, Houston, TX (United States); Massa, H.F. [Univ. of Washington, Seattle, WA (United States)] [and others

    1995-01-20

    After herpes simplex virus (HSV) infection, the viral regulatory protein VP16 activates transcription of the HSV immediate-early promoters by directing complex formation with two cellular proteins, the POU-homeodomain transcription factor Oct-1 and the host cell factor HCF. The function of HCF in uninfected cells is unknown. Here we show by fluorescence in situ hybridization and somatic cell hybrid analysis that the gene encoding human HCF, HCFC1, maps to the q28 region of the X chromosome. Yeast artificial chromosome and cosmid mapping localizes the HCFC1 gene within 100 kb distal of the renal vasopressin type-2 receptor (V2R) gene and adjacent to the renin-binding protein gene (RENBP). The HCFC1 gene is apparently unique. HCF transcripts and protein are most abundant in fetal and placental tissues and cell lines, suggesting a role in cell proliferation. In adults, HCF protein is abundant in the kidney, but not in the brain, a site of latent HSV infection and where HCF levels may influence progression of HSV infection. 42 refs., 3 figs.

  11. Acute Kidney Injury in the Elderly

    OpenAIRE

    Abdel-Kader, Khaled; Palevsky, Paul

    2009-01-01

    The aging kidney undergoes a number of important anatomic and physiologic changes that increase the risk of acute kidney injury (formerly acute renal failure) in the elderly. This article reviews these changes and discusses the diagnoses frequently encountered in the elderly patient with acute kidney injury. The incidence, staging, evaluation, management, and prognosis of acute kidney injury are also examined with special focus given to older adults.

  12. Complementary Therapy in Polycystic Ovary Syndrome

    OpenAIRE

    Aquino, Carmen Imma; Nori, Stefania Lucia

    2014-01-01

    Polycystic Ovary Syndrome (PCOS) is an endocrine disease. PCOS afflicts 5 to 10 % of women of reproductive age. The symptoms are: amenorrhea, oligomenorrhea, hirsutism, obesity, infertility, chronic hyperandrogenic anovulation and acne. Other risk factors aggravate this condition: insulin resistance, obesity, hypertension, dyslipidemia, inflammation and subclinical cardiovascular disease. Anxiety, depression and reduced quality of life are also common. This review highlights the mechanisms an...

  13. Women's Health Implications of Polycystic Ovary Syndrome

    NARCIS (Netherlands)

    Veltman-Verhulst, S.M.

    2012-01-01

    Polycystic Ovary Syndrome (PCOS) is a complex endocrine disorder of unknown etiology which affects approximately 12% of women. Principal features of PCOS are anovulation resulting in irregular or absent menstruation, excessive androgens (male sex hormones) and ovaries with multiple follicles (polycy

  14. Oncological repercussions of polycystic ovary syndrome

    DEFF Research Database (Denmark)

    de França Neto, Antônio H; Rogatto, Silvia; Do Amorim, Melania M R;

    2010-01-01

    Polycystic ovary syndrome (PCOS) is a highly prevalent endocrine disorder that has been associated with insulin resistance and metabolic syndrome. Evidence has suggested that PCOS may be associated with the appearance of certain types of cancer, particularly endometrial, ovarian and breast cancer...

  15. A Review of Pediatric Chronic Kidney Disease.

    Science.gov (United States)

    Kaspar, C D W; Bholah, R; Bunchman, T E

    2016-01-01

    Chronic kidney disease is complex in both adults and children, but the disease is far from the same between these populations. Here we review the marked differences in etiology, comorbidities, impact of disease on growth and quality of life, issues unique to adolescents and transitions to adult care, and special considerations of congenital kidney and urinary tract anomalies for transplantation. PMID:26766175

  16. An unbalanced submicroscopic translocation t(8;16)(q24.3;p13.3)pat associated with tuberous sclerosis complex, adult polycystic kidney disease, and hypomelanosis of Ito

    NARCIS (Netherlands)

    H.J.F.M.M. Eussen (Bert); S. Verhoef; A. Fois; D.J.J. Halley (Dicky); G. Bartalini (Gabriella); L. Bakker (Lida); P. Balestri (Paolo); C. di Lucca; J.O. van Hemel; H. Dauwerse; A.M.W. van den Ouweland (Ans); C. Ris-Stalpers (Carolyn)

    2000-01-01

    textabstractWe report on a familial submicroscopic translocation involving chromosomes 8 and 16. The proband of the family had a clinical picture suggestive of a large deletion in the chromosome 16p13.3 area, as he was affected with tuberous sclerosis complex (TSC) and had alpha th

  17. Association of Pulse Pressure, Arterial Elasticity, and Endothelial Function With Kidney Function Decline Among Adults With Estimated GFR > 60 mL/min/1.73 m2: The Multi-Ethnic Study of Atherosclerosis

    Science.gov (United States)

    Peralta, Carmen A.; Jacobs, David R.; Katz, Ronit; Ix, Joachim H.; Madero, Magdalena; Duprez, Daniel A.; Sarnak, Mark J.; Criqui, Michael H.; Kramer, Holly J.; Palmas, Walter; Herrington, David; Shlipak, Michael G.

    2011-01-01

    Background The association of subclinical vascular disease and early declines in kidney function has not been well studied. Study Design Prospective cohort study Setting & Participants MESA participants with eGFR ≥60 ml/min/1.73m2 with follow-up of 5 years Predictors Pulse pressure (pulse pressure), small and large arterial elasticity (SAE, LAE), and flow mediated dilation. Outcomes kidney function decline Measurements SAE and LAE were measured by pulse contour analysis of the radial artery. Kidney function was measured by serum creatinine- and cystatin C-based eGFR. Results Among 4,853 adults, higher pulse pressure and lower SAE and LAE had independent and linear associations with faster rates of kidney function decline. Compared to persons with pulse pressure 40–50mmHg, eGFRSCysC decline was 0.29 (p=0.006), 0.56 (p70mmHg, respectively. Compared to the highest quartile of SAE (most elastic), eGFRSCysC decline was 0.26 (p=0.009), 0.35 (p=0.001), and 0.70 (p<0.001) ml/min/1.73m2/year faster for the second, third and fourth quartiles respectively. For LAE, compared to the highest quartile, eGFRSCysC decline was 0.28 (p=0.004), 0.58 (p<0.001), and 0.83 (p<0.001) ml/min/1.73m2/year faster for each decreasing quartile of LAE. Findings were similar with creatinine-based eGFR. In contrast, among 2,997 adults with flow-mediated dilation and kidney function measures, flow-mediated dilation was not significantly associated with kidney function decline. For every 1-SD greater flow-mediated dilation, eGFRSCysC and eGFRSCr changed by 0.05 ml/min/1.73m2/year (p=0.3) and 0.06 ml/min/1.73m2/year (p=0.04), respectively. Limitations We had no direct measure of GFR, in common with nearly all large population based studies. Conclusions Higher pulse pressure and lower arterial elasticity, but not flow-mediated dilation, were linearly and independently associated with faster kidney function decline among persons with eGFR ≥60 ml/min/1.73m2. Future studies investigate whether

  18. Kidney biopsy

    Science.gov (United States)

    ... Goodpasture syndrome IgA nephropathy Interstitial nephritis Lupus nephritis Medullary cystic kidney disease Membranoproliferative glomerulonephritis Membranous nephropathy Minimal change disease Nephrotic ...

  19. Kidney Cancer

    Science.gov (United States)

    You have two kidneys. They are fist-sized organs on either side of your backbone above your waist. The tubes inside filter and ... blood, taking out waste products and making urine. Kidney cancer forms in the lining of tiny tubes ...

  20. 超声诊断胎儿多囊性肾发育不良的价值%Value of ultrasound in diagnosis of fetal polycystic renal dysplasia

    Institute of Scientific and Technical Information of China (English)

    巨学明; 马雄涛; 王家刚; 郑芝祥; 王少洪; 朱红军

    2011-01-01

    目的 分析胎儿多囊性肾发育不良的超声和病理特征,以提高超声对其诊断率.方法 9例胎儿多囊性肾发育不良,共11个肾,分析其声像图特征;引产7例,并对引产胎儿进行泌尿系解剖病理分析.结果 9例胎儿多囊性肾发育不良表现为肾脏形态失常,多发大小不等囊肿;病理标本显示肾脏多发大小不等囊肿,肾蒂及集合系统发育不良.结论 胎儿多囊性肾发育不良具有特异的超声特点,产前可明确诊断.%Objective To analyze the ultrasonic and pathological features of fetal polycystic renal dysplasia, and to improve its diagnostic rate. Methods A total of 11 kidneys in 9 cases of polycystic renal dysplasia were diagnosed hy prenatal ultrasonography. The sonogram features were analyzed. 7 cases were induced labored, then the anatomic - pathology of fetal urinary system was analyzed. Results Prenatal ultrasonography showed abnormal kidney shape and multiple cysts in 9 cases of polycystic kidney dysplasia, pathology showed mass of cysts in various size in the kidney, renal collection system and renal pedicle stunted growth. Conclusion Fetal polycystic renal dysplasia has specific ultrasonic characteristics. it can be accurately diagnosed by prenatal ultrasonography.

  1. Metabolic Syndrome in the Immediate Female Relatives (Mothers of Women with Polycystic Ovarian Syndrome

    Directory of Open Access Journals (Sweden)

    marzieh akbarzadeh

    2011-01-01

    Full Text Available Introduction: About 40% of PCOS affected women’s sisters have hyperandrogenemia and are exposed to metabolic syndrome risk. This study aimed at investigating metabolic disorders and level of testosterone in immediate relatives (mothers of patients with polycystic ovarian syndrome. Methods: The study was conducted over 34 mothers of patients with polycystic ovarian syndrome, and 34 relatives of women without the syndrome. Blood pressure, height and weight, a blood sample were obtained from all participants in order to investigate their serum insulin, blood sugar, testosterone and lipoproteins. Metabolic syndrome was evaluated based on ATPIII (Adult Treatment Panel Ш and IDF (International Diabetes Federation, and resistance to insulin was evaluated based on HOMA indices (Homeostasis Model Assessment Index and QUICKI (Quantitative Insulin Sensitivity Check Index and fasting blood sugar and BMI≤30kg/m2. Results: The prevalence of metabolic syndrome in mothers of the PCOS was according to ATPIII index and IDF index was not significantly different from the relatives of healthy group (P>0.05. The means of fasting blood sugar, blood pressure, serum testosterone, total cholesterol, LDL. HDL and triglyceride in mothers of the healthy women were very different from those of the mothers of the patients (P0.05. Conclusion: Immediate relatives especially mothers of women suffering from polycystic ovarian syndrome are exposed to metabolic syndrome.

  2. Use of dual section mRNA in situ hybridisation/immunohistochemistry to clarify gene expression patterns during the early stages of nephron development in the embryo and in the mature nephron of the adult mouse kidney.

    Science.gov (United States)

    Georgas, Kylie; Rumballe, Bree; Wilkinson, Lorine; Chiu, Han Sheng; Lesieur, Emmanuelle; Gilbert, Thierry; Little, Melissa H

    2008-11-01

    The kidney is the most complex organ within the urogenital system. The adult mouse kidney contains in excess of 8,000 mature nephrons, each of which can be subdivided into a renal corpuscle and 14 distinct tubular segments. The histological complexity of this organ can make the clarification of the site of gene expression by in situ hybridisation difficult. We have defined a panel of seven antibodies capable of identifying the six stages of early nephron development, the tubular nephron segments and the components of the renal corpuscle within the embryonic and adult mouse kidney. We have analysed in detail the protein expression of Wt1, Calb1 Aqp1, Aqp2 and Umod using these antibodies. We have then coupled immunohistochemistry with RNA in situ hybridisation in order to precisely identify the expression pattern of different genes, including Wnt4, Umod and Spp1. This technique will be invaluable for examining at high resolution, the structure of both the developing and mature nephron where standard in situ hybridisation and histological techniques are insufficient. The use of this technique will enhance the expression analyses of genes which may be involved in nephron formation and the function of the mature nephron in the mouse.

  3. Polycystic ovary syndrome: from phenotype to genetype

    OpenAIRE

    Louwers, Yvonne

    2014-01-01

    markdownabstract__Abstract__ oligomenorrhea or amenorrhea, hirsutism or hyperandrogenism and polycystic ovarian morphology. Later in life, adverse metabolic implications, such as obesity, insulin resistance, type 2 diabetes and cardiovascular disease, become more prominent. In this thesis, we aimed to identify genetic factors for PCOS susceptibility using a candidate-gene approach and a hypothesis-free genome-wide approach. Moreover, we have identified several high-risk groups for long-term h...

  4. Polycystic Ovary Syndrome in the Pediatric Population

    OpenAIRE

    Bremer, Andrew A.

    2010-01-01

    Polycystic ovary syndrome (PCOS) is a common disorder characterized by hyperandrogenism and disordered gonadotropin secretion, often associated with insulin resistance. The syndrome, which modulates both hormonal and metabolic processes, is the most common endocrinopathy in reproductive-age women and increases a woman's risk of infertility, endometrial pathology, and cardiometabolic disease. As it is currently defined, PCOS most likely encompasses several distinct diseases with similar clinic...

  5. Treatment options for polycystic ovary syndrome

    OpenAIRE

    Ahmed Badawy; Abubaker Elnashar

    2011-01-01

    Ahmed Badawy1 Abubaker Elnashar21Department of Obstetrics and Gynecology, Mansoura University, Mansoura, Egypt; 2Department of Obstetrics and Gynecology, Benha University, Benha, EgyptAbstract: Polycystic ovary syndrome (PCOS) is the most common endocrine disorder in women. The clinical manifestation of PCOS varies from a mild menstrual disorder to severe disturbance of reproductive and metabolic functions. Management of women with PCOS depends on the symptoms. These could be ovulatory dysfun...

  6. Fetal programming of polycystic ovary syndrome

    OpenAIRE

    Gur, Esra Bahar; Karadeniz, Muammer; Turan, Guluzar Arzu

    2015-01-01

    Polycystic ovary syndrome (PCOS) is a common endocrine disorder that affects up to 6.8% of reproductive age women. Experimental research and clinical observations suggest that PCOS may originate in the very early stages of development, possibly even during intrauterine life. This suggests that PCOS is either genetically-transmitted or is due to epigenetic alterations that develop in the intrauterine microenvironment. Although familial cases support the role of genetic factors, no specific gen...

  7. The pathogenetic enigma of polycystic ovary syndrome

    OpenAIRE

    S. Speca; Napolitano, C.; Tagliaferri, G.

    2007-01-01

    Polycystic ovary syndrome (PCOS) is a complex disease with heterogeneous clinical and anatomical features that were first described in 1721 by Antonio Vallisneri. There is still a lack of consensus regarding the criteria to be used for diagnosis of PCOS. Transvaginal ultrasonography with Doppler studies of the ovarian and pelvic vasculature plays an important role in its diagnosis, but findings must be interpreted in light of the patient's symptoms and laboratory findings.

  8. Kidney disease - resources

    Science.gov (United States)

    Resources - kidney disease ... The following organizations are good resources for information on kidney disease: National Kidney Disease Education Program -- www.nkdep.nih.gov National Kidney Foundation -- www.kidney.org National ...

  9. Kidney (Renal) Failure

    Science.gov (United States)

    ... How is kidney failure treated? What is kidney (renal) failure? The kidneys are designed to maintain proper fluid ... marrow and strengthen the bones. The term kidney (renal) failure describes a situation in which the kidneys have ...

  10. Polycystic ovary syndrome: symptomatology, pathophysiology, and epidemiology.

    Science.gov (United States)

    Guzick, D

    1998-12-01

    Women with polycystic ovary syndrome seek health care for 3 major reasons: infertility, menstrual irregularity, and androgen excess. The infertility is associated with anovulation. The menstrual irregularity is typically chronic, beginning with menarche. Although amenorrhea may sometimes occur, the more common presentation is irregular bleeding characteristic of anovulation. Androgen excess may be manifested by varying degrees of hirsutism. Patients may also report acne. The rapid development of virilizing signs, such as deepening of the voice, increased muscle mass, and temporal balding, should prompt a search for a tumor and lead one away from a diagnosis of polycystic ovary syndrome. Typically treatment is directed at alleviating the symptoms: ovulation induction for infertility, oral contraceptives or a progestin for menstrual irregularity, and oral contraceptives or spironolactone for hirsutism. On the basis of recent epidemiologic data suggestive of increased cardiovascular risk among women with polycystic ovary syndrome, such treatment might be complemented by a long-term approach that addresses the underlying pathophysiology of insulin resistance. PMID:9855614

  11. Obesity and hormonal status of patients with polycystic ovary syndrome

    Directory of Open Access Journals (Sweden)

    Radulović Aleksandar

    2003-01-01

    Full Text Available Introduction Polycystic ovary syndrome is commonly associated with hyperandrogenism and anovulation. The aim of this study was to investigate the impact of obesity on hormonal status in patients with polycystic ovary syndrome. Material and methods The study was performed at the Ward of Obstetrics and Gynecology of the General Hospital in Subotica. A retrospective investigation comprised 39 patients with polycystic ovary syndrome . All patients were in the fertile age-range: 18-38 years. Following ultrasonographic examination and anamnestic data, patients underwent hormonal analyses of follicle-stimulating hormone (FSH, luteinizing hormone (LH, testosterone, prolactin and insulin obtained from the pooled serum sample. Results Values of testosterone and insulin in the group of obese patients with polycystic ovary syndrome were significantly higher than in normal weight patients. Patients with normal body weight index had significantly increased levels of LH in regard to those with increased body weight index. Values of FSH, prolactin and LH/FSH ratio were not significantly different in both groups of polycystic ovary syndrome patients. Increased values of insulin were recorded in 43% of obese and 18.2% of normal weight patients. Conclusion Analysis of investigated results confirmed that obese patients with polycystic ovary syndrome and insulin resistance have been a special clinical entity, whereas an open question remains whether obesity is directly connected with polycystic ovary syndrome or it is only an additional factor interfering with metabolic and hormonal status of genetically predisposed and phenotypically indoctrinated women with polycystic ovary syndrome.

  12. Cardiometabolic abnormalities in the polycystic ovary syndrome : Pharmacotherapeutic insights

    NARCIS (Netherlands)

    Westerveld, H. E.; Hoogendoorn, M.; de Jong, A. W. F.; Goverde, A. J.; Fauser, B. C. J. M.; Dallinga-Thie, G. M.

    2008-01-01

    The polycystic ovary syndrome (PCOS) affects 5-10% of all premenopausal women. It is diagnosed by a combination of oligo-amenorrhea and hyperandrogenism (NIH criteria) or by the presence of two out of three of: oligo-amenorrhea, hyperandrogenism, polycystic ovaries on ultrasound (Rotterdam criteria)

  13. Polycystic Ovary Syndrome : Genetic determinants of the phenotype

    NARCIS (Netherlands)

    O. Valkenburg (Olivier)

    2015-01-01

    markdownabstract__Abstract__ The polycystic ovary syndrome (PCOS) was first described in 1935 by Stein and Leventhal as an association of amenorrhoea, obesity and a typical, polycystically enlarged, appearance of the ovaries at laparatomy1. Taking into account the absence of advanced imaging techni

  14. Adipose expression of adipocytokines in women with polycystic ovary syndrome

    DEFF Research Database (Denmark)

    Svendsen, Pernille Fog; Christiansen, Michael; Hedley, Paula Louise;

    2012-01-01

    To investigate the role of adipocytokines in the pathophysiology of polycystic ovary syndrome (PCOS) by analyzing the messenger RNA (mRNA) expression and plasma levels of adipocytokines.......To investigate the role of adipocytokines in the pathophysiology of polycystic ovary syndrome (PCOS) by analyzing the messenger RNA (mRNA) expression and plasma levels of adipocytokines....

  15. Bone morphogenetic proteins and the polycystic ovary syndrome

    NARCIS (Netherlands)

    E.L.A.F. van Houten (Leonie); J.S.E. Laven (Joop); Y.V. Louwers (Yvonne); A. McLuskey; A.P.N. Themmen (Axel); J.A. Visser (Jenny)

    2013-01-01

    textabstractBackground: Polycystic Ovary Syndrome (PCOS) is defined by two out of the following three criteria being met: oligo- or anovulation, hyperandrogenism, and polycystic ovaries. Affected women are often obese and insulin resistant. Although the etiology is still unknown, members of the Tran

  16. Copeptin Is Associated with Kidney Length, Renal Function, and Prevalence of Simple Cysts in a Population-Based Study

    OpenAIRE

    Ponte, Belen; Pruijm, Menno; Ackermann, Daniel; Vuistiner, Philippe; Guessous, Idris; Ehret, Georg; Alwan, Heba; Youhanna, Sonia; Paccaud, Fred; Mohaupt, Markus; Péchère-Bertschi, Antoinette; Vogt, Bruno; Burnier, Michel; Martin, Pierre-Yves; Devuyst, Olivier

    2014-01-01

    Arginine vasopressin (AVP) has a key role in osmoregulation by facilitating water transport in the collecting duct. Recent evidence suggests that AVP may have additional effects on renal function and favor cyst growth in polycystic kidney disease. Whether AVP also affects kidney structure in the general population is unknown. We analyzed the association of copeptin, an established surrogate for AVP, with parameters of renal function and morphology in a multicentric population-based cohort. Pa...

  17. Kidney transplant

    Science.gov (United States)

    ... in cool salt water (saline) that preserves the organ for up to 48 hours. This gives the ... receive a transplanted kidney may reject the new organ. This means that their immune system sees the ...

  18. Your Kidneys

    Science.gov (United States)

    ... you to go to the bathroom. When you pee, the urine goes from the bladder down another tube called the urethra (say: yu-REE-thruh) and out of your body. The kidneys, the bladder, and their tubes ...

  19. The association of adiposity with kidney function decline among HIV-infected adults: Findings from the Fat Redistribution and Metabolic Changes in HIV Infection (FRAM) study

    OpenAIRE

    Malkina, A; Scherzer, R.; Shlipak, MG; Bacchetti, P; Tien, PC; Grunfeld, C; Kosmiski, L; Peralta, CA

    2014-01-01

    © 2014 British HIV Association. Objectives: The aim of the study was to investigate the association of adiposity with longitudinal kidney function change in 544 HIV-infected persons in the Study of Fat Redistribution and Metabolic Change in HIV infection (FRAM) cohort over 5 years of follow-up. Methods: The regional distribution of muscle and adipose tissue was quantified by whole-body magnetic resonance imaging (MRI), and total adiponectin and leptin levels were measured in serum. Kidney fun...

  20. Pyelonephritis (Kidney Infection) in Adults

    Science.gov (United States)

    ... their structure. The procedure is performed in a health care provider’s office, outpatient center, or hospital by a specially trained technician, and the images are interpreted by a radiologist—a doctor who specializes in medical imaging; anesthesia ...

  1. Overexpression of Aquaporin 1 on cysts of patients with polycystic liver disease

    Directory of Open Access Journals (Sweden)

    Li Dingyang

    2016-02-01

    Full Text Available Background and objective: Polycystic liver disease (PCLD represents a group of genetic disorders that include autosomal dominant polycystic kidney disease (ADPKD and isolated polycystic liver disease (iPCLD. There is currently no definitive treatment except for liver transplantation. The aim of this study was to assess the expression level of aquaporin 1 (AQP1 on the PCLD cysts with different sizes and provide the potential therapeutic target. Methods: We collected 3 normal bile ducts, and recruited 8 patients with simple liver cyst disease, 24 patients with ADPKD, and 17 patients with iPCLD. AQP1 expression in different types of cyst walls and in normal bile ducts was detected using real time quantitative PCR, western blot and immunofluorescence staining. We also compared AQP1 expression levels in cysts of different sizes. Besides, ionic concentrations, pH and osmolality of cyst fluid were analyzed. Results: The results showed that AQP1 expression in PCLD cysts was significantly higher than that in simple liver cysts and the normal bile ducts. In addition, a comparable increasing trend was found in cysts of smaller sizes to cysts of larger sizes. pH values, the sodium and chloride concentrations were higher in cyst fluid than that in the serum. Conclusions: AQP1 was overexpressed in cystic cholangiocytes. A tendency of increased AQP1 protein expression in correlation with the cyst size was also found. These observations offered a direction into the molecular mechanisms of cyst expansion and maybe provide new treatment strategies to reduce fluid secretion into liver cysts.

  2. 26例成人多囊肝病患者肝部分切除联合囊肿广泛开窗术后并发症的护理%Nursing of Complications for Patients with Adult Polycystic Liver Disease Treated by Partial Hepatectomy with Wide Fenestration into Hepatic Cysts:A 26-case Study

    Institute of Scientific and Technical Information of China (English)

    蒋敏君; 刘梅; 刘芳; 张迪; 石春凤

    2013-01-01

    介绍26例成人多囊肝病行肝部分切除联合囊肿广泛开窗术后患者并发症的观察与护理体会。密切观察腹腔引流液的颜色、性质、量,警惕并发胆汁性腹膜炎、腹腔出血、大量腹水等并发症;倾听患者主诉,重视患者不同程度的胸闷、胸痛、气促、呼吸困难等胸腔积液症状。本组26例患者出现并发症,其中7例出现1种以上的并发症:腹腔出血1例,大量腹水17例,胸腔积液11例,胆漏2例,感染3例,肾功能衰竭2例,均经对症处理与精心护理后治愈。%This paper introduced the nursing of complications for patients with adult polycystic liver disease treated by partial hepatectomy with wide fenestration into hepatic cysts. It was important to observe closely the color, quality and quantity of postoperative intraabdominal drainage liquid for the complications of biliary peritonitis, abdominal hemorrhage and large amount of ascitic fluid. Patients complaints needed to be given special attention and symptoms of pleural effusion such as chest distress, chest pain, shortness of breath and dyspnea should be given attention as well. In the study, one or more complications occurred in 7 patient. Of the total, abdominal hemorrhage occurred in 1 patient, large amount of ascitic fluid in 17, pleural effusion in 11, bile leakage in 2, infection in 3 and renal failure in 2. All the patients recovered after treatment and careful nursing.

  3. Apparent diffusion coefficient measurements of bilateral kidneys at 3 T MRI: Effects of age, gender, and laterality in healthy adults

    International Nuclear Information System (INIS)

    Aim: To investigate the effects of age and gender on apparent diffusion coefficient (ADC) measurements of bilateral kidneys at 3 T MRI, and compare the ADC values of left and right kidneys. Materials and methods: In all, 137 healthy participants (mean age 42.8 ± 14.7 years; age range 16–75 years) comprising 68 male and 69 female participants were enrolled. Three Tesla echo-planar diffusion-weighted imaging (DWI) of bilateral kidneys was performed and ADC values were measured in the cortex, medulla, and whole parenchyma. Pearson correlation analysis and linear regression were performed to determine the associations between the ADC values in each region and age. Effects of age and gender on ADC values were analysed using two-factor analysis of variance (ANOVA). The paired-samples t-test was established to compare the ADC values between left and right kidneys. Results: ADC values were significantly higher in the young group (≤50 years) than in the old group (>50 years), and correlated inversely with the age in all regions. Male participants had higher ADC values than female participants in all regions except left medulla. Two-factor ANOVA of age × gender showed no significant interactions between the variables age and gender were found. No significant differences in ADC values between left and right kidneys were observed. Conclusion: Renal ADC values are age- and gender-dependent, and show no significant difference between left and right kidneys. Age- and gender-related effects should be taken into consideration in future renal DWI studies when using normal ADC values from health controls. - Highlights: • Renal apparent diffusion coefficient (ADC) values decrease with ageing. • Men tend to have higher renal ADC values than women. • Bilateral kidneys seem to have no significantly different ADC values

  4. Targeted Therapies for Kidney Cancer

    Science.gov (United States)

    ... for kidney cancer Targeted therapies for kidney cancer Biologic therapy (immunotherapy) for kidney cancer Chemotherapy for kidney cancer Pain control for kidney cancer Treatment choices by stage for ...

  5. Renal cancer in kidney transplanted patients.

    Science.gov (United States)

    Frascà, Giovanni M; Sandrini, Silvio; Cosmai, Laura; Porta, Camillo; Asch, William; Santoni, Matteo; Salviani, Chiara; D'Errico, Antonia; Malvi, Deborah; Balestra, Emilio; Gallieni, Maurizio

    2015-12-01

    Renal cancer occurs more frequently in renal transplanted patients than in the general population, affecting native kidneys in 90% of cases and the graft in 10 %. In addition to general risk factors, malignancy susceptibility may be influenced by immunosuppressive therapy, the use of calcineurin inhibitors (CNI) as compared with mammalian target of rapamycin inhibitors, and the length of dialysis treatment. Acquired cystic kidney disease may increase the risk for renal cancer after transplantation, while autosomal dominant polycystic kidney disease does not seem to predispose to cancer development. Annual ultrasound evaluation seems appropriate in patients with congenital or acquired cystic disease or even a single cyst in native kidneys, and every 2 years in patients older than 60 years if they were on dialysis for more than 5 years before transplantation. Immunosuppression should be lowered in patients who develop renal cancer, by reduction or withdrawal of CNI. Although more evidence is still needed, it seems reasonable to shift patients from CNI to everolimus or sirolimus if not already treated with one of these drugs, with due caution in subjects with chronic allograft nephropathy.

  6. Medical therapy for polycystic liver disease.

    Science.gov (United States)

    Khan, S; Dennison, A; Garcea, G

    2016-01-01

    Introduction Somatostatin analogues and rapamycin inhibitors are two classes of drugs available for the management of polycystic liver disease but their overall impact is not clearly established. This article systematically reviews the literature on the medical management of polycystic liver disease. The outcomes assessed include reduction in liver volume and the impact on quality of life. Methods The English language literature published between 1966 and August 2014 was reviewed from a MEDLINE(®), PubMed, Embase™ and Cochrane Library search. Search terms included 'polycystic', 'liver', 'sirolimus', 'everolimus', 'PCLD', 'somatostatin', 'octreotide', 'lanreotide' and 'rapamycin'. Both randomised trials and controlled studies were included. References of the articles retrieved were also searched to identify any further eligible publications. The studies included were appraised using the Jadad score. Results Seven studies were included in the final review. Five studies, of which three were randomised trials, investigated the role of somatostatin analogues and the results showed a mean reduction in liver volume ranging from 2.9% at six months to 4.95 ±6.77% at one year. Only one randomised study examined the influence of rapamycin inhibitors. This trial compared dual therapy with everolimus and octreotide versus octreotide monotherapy. Liver volume reduced by 3.5% and 3.8% in the control and intervention groups respectively but no statistical difference was found between the two groups (p=0.73). Two randomised trials investigating somatostatin analogues assessed quality of life using SF-36(®). Only one subdomain score improved in one of the trials while two subdomain scores improved in the other with somatostatin analogue therapy. Conclusions Somatostatin analogues significantly reduce liver volumes after six months of therapy but have only a modest improvement on quality of life. Rapamycin inhibitors do not confer any additional advantage.

  7. UNUSUAL CASE OF POLYCYSTIC LIVER DISEASE

    OpenAIRE

    Andreea Brumaru; Catalina Mihai; Cristina Cijevschi Prelipcean

    2005-01-01

    Polycystic liver disease (PCLD) is a rare disease defined as the presence of four or more thin-walled cyst within the hepatic parenchyma.The most common form of autosomal dominant PCLD coexist with renal cystic disease. In contrast to the concomitant renal and liver cystic disease, the isolated form of PCLD is a comparatively rare form, that displays no renal involvement.Only 7% of patients with PCDL do not have associated renal cyst. Most cases are asymptomatic. Patients generally have pre...

  8. The inositols and polycystic ovary syndrome

    Science.gov (United States)

    Kalra, Bharti; Kalra, Sanjay; Sharma, J. B.

    2016-01-01

    This review describes the rationale, biochemical, and clinical data related to the use of inositols in polycystic ovary syndrome (PCOS). It covers studies related to the mechanism of action of myo-inositol and D-chiro-inositol (MDI), with randomized controlled trials conducted in women with PCOS, and utilizes these data to suggest pragmatic indications and methods for using MDI combination in PCOS. Rationally crafted inositol combinations have a potential role to play in maintaining metabolic, endocrine, and reproductive health in women with PCOS. PMID:27730087

  9. Dangerous triplet: Polycystic ovary syndrome, oral contraceptives and Kounis syndrome

    Institute of Scientific and Technical Information of China (English)

    Nurdan; Erol; Aysu; Turkmen; Karaagac; Nicholas; G; Kounis

    2014-01-01

    Polycystic ovary syndrome is characterized by ovulatory dysfunction, androgen excess and polycystic ovaries and is associated with hypertension, diabetes, metabolic syndrome and cardiovascular events. Oral contraceptives constitute first-line treatment, particularly when symptomatic hyperandrogenism is present. However, these drugs are associated with cardiovascular events and hypersensitivity reactions that pose problem in differential diagnosis and therapy. We present a 14 year-old female with polycystic ovary syndrome taking oral contraceptive and suffering from recurrent coronary ischemic attacks with increased eosinophils, and troponin levels suggesting Kounis syndrome.

  10. Metabolic syndrome and polycystic ovary syndrome: an intriguing overlapping.

    Science.gov (United States)

    Caserta, Donatella; Adducchio, Gloria; Picchia, Simona; Ralli, Eleonora; Matteucci, Eleonora; Moscarini, Massimo

    2014-06-01

    Metabolic syndrome is an increasing pathology in adults and in children, due to a parallel rise of obesity. Sedentary lifestyle, food habits, cultural influences and also a genetic predisposition can cause dyslipidemia, hypertension, abdominal obesity and insulin resistance which are the two main features of metabolic syndrome. Polycystic ovary syndrome (PCOS) is a condition directly associated with obesity, insulin resistance (HOMA index) and metabolic syndrome, and it is very interesting for its relationship and overlap with the metabolic syndrome. The relationship between the two syndromes is mutual: PCOS women have a higher prevalence of metabolic syndrome and also women with metabolic syndrome commonly present the reproductive/endocrine trait of PCOS. Prevention and treatment of metabolic syndrome and PCOS are similar for various aspects. It is necessary to treat excess adiposity and insulin resistance, with the overall goals of preventing cardiovascular disease and type 2 diabetes and improving reproductive failure in young women with PCOS. First of all, lifestyle changes, then pharmacological therapy, bariatric surgery and laparoscopic ovarian surgery represent the pillars for PCOS treatment.

  11. Acute kidney failure

    Science.gov (United States)

    Kidney failure; Renal failure; Renal failure - acute; ARF; Kidney injury - acute ... To prevent acute kidney failure: Health problems such as high blood pressure or diabetes should be well controlled. Avoid drugs and medicines that can cause kidney injury.

  12. Kidney pain (image)

    Science.gov (United States)

    A kidney stone is a solid piece of material that forms in a kidney. Kidney stones may be the size of sand or ... A kidney stone is a solid piece of material that forms in a kidney. Kidney stones may be the ...

  13. FDA Approved Registration of Erythromycin for Treatment of Bacterial Kidney Disease (BKD) in Juvenile and Adult Chinook Salmon : Annual Report, Reporting Period March 10, 1989 to March 9, 1990.

    Energy Technology Data Exchange (ETDEWEB)

    Moffitt, Christine A.

    1991-04-01

    Erythromycin is a therapeutic substance useful against bacterial kidney disease in salmon. In 1989 we began a multi year project to learn more about erythromycin applied to juvenile and adult salmon, with the goal of achieving registration of erythromycin with the US Food and Drug Administration. To begin the study, we studied the pharmacokinetics of erythromycin administered to both adult and juvenile chinook salmon. We monitored blood plasmas time curves from individual adult fish injected with two forms of injectable erythromycin using one of three routes of administration. In addition, we began experiments to evaluate hatchery applications of erythromycin to individually marked adult salmon, and we recovered blood tissues from these fish at the time of spawning. To determine how to use erythromycin in juvenile salmon, we evaluated the adsorption and elimination of erythromycin applied arterially and orally to individual juvenile fish. In feeding trials we determined the palatability to juvenile chinook salmon of feed made with one of two different carriers for erythromycin thiocyanate. 35 refs., 4 figs. , 3 tabs.

  14. Cdc42 deficiency causes ciliary abnormalities and cystic kidneys.

    Science.gov (United States)

    Choi, Soo Young; Chacon-Heszele, Maria F; Huang, Liwei; McKenna, Sarah; Wilson, F Perry; Zuo, Xiaofeng; Lipschutz, Joshua H

    2013-09-01

    Ciliogenesis and cystogenesis require the exocyst, a conserved eight-protein trafficking complex that traffics ciliary proteins. In culture, the small GTPase Cdc42 co-localizes with the exocyst at primary cilia and interacts with the exocyst component Sec10. The role of Cdc42 in vivo, however, is not well understood. Here, knockdown of cdc42 in zebrafish produced a phenotype similar to sec10 knockdown, including tail curvature, glomerular expansion, and mitogen-activated protein kinase (MAPK) activation, suggesting that cdc42 and sec10 cooperate in ciliogenesis. In addition, cdc42 knockdown led to hydrocephalus and loss of photoreceptor cilia. Furthermore, there was a synergistic genetic interaction between zebrafish cdc42 and sec10, suggesting that cdc42 and sec10 function in the same pathway. Mice lacking Cdc42 specifically in kidney tubular epithelial cells died of renal failure within weeks of birth. Histology revealed cystogenesis in distal tubules and collecting ducts, decreased ciliogenesis in cyst cells, increased tubular cell proliferation, increased apoptosis, increased fibrosis, and led to MAPK activation, all of which are features of polycystic kidney disease, especially nephronophthisis. Taken together, these results suggest that Cdc42 localizes the exocyst to primary cilia, whereupon the exocyst targets and docks vesicles carrying ciliary proteins. Abnormalities in this pathway result in deranged ciliogenesis and polycystic kidney disease.

  15. Cdc42 deficiency causes ciliary abnormalities and cystic kidneys.

    Science.gov (United States)

    Choi, Soo Young; Chacon-Heszele, Maria F; Huang, Liwei; McKenna, Sarah; Wilson, F Perry; Zuo, Xiaofeng; Lipschutz, Joshua H

    2013-09-01

    Ciliogenesis and cystogenesis require the exocyst, a conserved eight-protein trafficking complex that traffics ciliary proteins. In culture, the small GTPase Cdc42 co-localizes with the exocyst at primary cilia and interacts with the exocyst component Sec10. The role of Cdc42 in vivo, however, is not well understood. Here, knockdown of cdc42 in zebrafish produced a phenotype similar to sec10 knockdown, including tail curvature, glomerular expansion, and mitogen-activated protein kinase (MAPK) activation, suggesting that cdc42 and sec10 cooperate in ciliogenesis. In addition, cdc42 knockdown led to hydrocephalus and loss of photoreceptor cilia. Furthermore, there was a synergistic genetic interaction between zebrafish cdc42 and sec10, suggesting that cdc42 and sec10 function in the same pathway. Mice lacking Cdc42 specifically in kidney tubular epithelial cells died of renal failure within weeks of birth. Histology revealed cystogenesis in distal tubules and collecting ducts, decreased ciliogenesis in cyst cells, increased tubular cell proliferation, increased apoptosis, increased fibrosis, and led to MAPK activation, all of which are features of polycystic kidney disease, especially nephronophthisis. Taken together, these results suggest that Cdc42 localizes the exocyst to primary cilia, whereupon the exocyst targets and docks vesicles carrying ciliary proteins. Abnormalities in this pathway result in deranged ciliogenesis and polycystic kidney disease. PMID:23766535

  16. Treatments to Relieve Symptoms of Polycystic Ovary Syndrome (PCOS)

    Science.gov (United States)

    ... L. A., Cedars, M. I., et al. (2011). Physical activity in women with polycystic ovary syndrome: Prevalence, predictors, and positive health associations. American Journal of Obstetrics and Gynecology , 204, 352.e1–352. ...

  17. Kidney Injury Accelerates Cystogenesis via Pathways Modulated by Heme Oxygenase and Complement

    OpenAIRE

    Zhou, Juling; Ouyang, Xiaosen; Schoeb, Trenton R.; Bolisetty, Subhashini; Cui, Xiangqin; Mrug, Sylvie; Yoder, Bradley K.; Johnson, Martin R.; Alexander J. Szalai; Mrug, Michal

    2012-01-01

    AKI accelerates cystogenesis. Because cystogenic mutations induce strong transcriptional responses similar to those seen after AKI, these responses may accelerate the progression of cystic renal disease. Here, we modulated the severity of the AKI-like response in Cys1cpk/cpk mice, a model that mimics autosomal recessive polycystic kidney disease. Specifically, we induced or inhibited activity of the renoprotective enzyme heme oxygenase (HO) and determined the effects on renal cystogenesis. We...

  18. Insulin and hyperandrogenism in women with polycystic ovary syndrome

    OpenAIRE

    Baptiste, Catherine G.; Battista, Marie-Claude; Trottier, Andréanne; Baillargeon, Jean-Patrice

    2009-01-01

    Polycystic ovary syndrome (PCOS) is a very common endocrine disorder characterized by chronic anovulation, clinical and/or biochemical hyperandrogenism, and/or polycystic ovaries. But most experts consider that hyperandrogenism is the main characteristic of PCOS. Several theories propose different mechanisms to explain PCOS manifestations: (1) a primary enzymatic default in the ovarian and/or adrenal steroidogenesis; (2) an impairment in gonadotropin releasing hormone (GnRH) secretion that pr...

  19. Dangerous triplet: Polycystic ovary syndrome, oral contraceptives and Kounis syndrome

    OpenAIRE

    Erol, Nurdan; Karaagac, Aysu Turkmen; Nicholas G Kounis

    2014-01-01

    Polycystic ovary syndrome is characterized by ovulatory dysfunction, androgen excess and polycystic ovaries and is associated with hypertension, diabetes, metabolic syndrome and cardiovascular events. Oral contraceptives constitute first-line treatment, particularly when symptomatic hyperandrogenism is present. However, these drugs are associated with cardiovascular events and hypersensitivity reactions that pose problem in differential diagnosis and therapy. We present a 14 year-old female wi...

  20. Obesity Differentially Affects Phenotypes of Polycystic Ovary Syndrome

    OpenAIRE

    Carlos Moran; Monica Arriaga; Gustavo Rodriguez; Segundo Moran

    2012-01-01

    Obesity or overweight affect most of patients with polycystic ovary syndrome (PCOS). Phenotypes are the clinical characteristics produced by the interaction of heredity and environment in a disease or syndrome. Phenotypes of PCOS have been described on the presence of clinical hyperandrogenism, oligoovulation and polycystic ovaries. The insulin resistance is present in the majority of patients with obesity and/or PCOS and it is more frequent and of greater magnitude in obese than in non obese...

  1. Epidemiology, diagnosis, and management of polycystic ovary syndrome

    OpenAIRE

    Sirmans SM; Pate KA

    2013-01-01

    Susan M Sirmans, Kristen A PateDepartment of Clinical and Administrative Sciences, College of Pharmacy, University of Louisiana at Monroe, Monroe, LA, USAAbstract: Polycystic ovary syndrome (PCOS) is a common heterogeneous endocrine disorder characterized by irregular menses, hyperandrogenism, and polycystic ovaries. The prevalence of PCOS varies depending on which criteria are used to make the diagnosis, but is as high as 15%–20% when the European Society for Human Reproduction and...

  2. Renal blood flow using arterial spin labelling MRI and calculated filtration fraction in healthy adult kidney donors pre-nephrectomy and post-nephrectomy

    Energy Technology Data Exchange (ETDEWEB)

    Cutajar, Marica; Clark, Christopher A.; Gordon, Isky [University College London, Imaging and Biophysics Unit, Institute of Child Health, London (United Kingdom); Hilton, Rachel; Olsburgh, Jonathon [Renal Unit, Guy' s and St Thomas' NHS Foundation Trust, London (United Kingdom); Marks, Stephen D. [Great Ormond Street Hospital for Children NHS Foundation Trust, Department of Paediatric Nephrology, London (United Kingdom); Thomas, David L. [University College London, Department of Brain Repair and Rehabilitation, Institute of Neurology, London (United Kingdom); Banks, Tina [Great Ormond Street Hospital for Children NHS Foundation Trust, Department of Radiology, London (United Kingdom)

    2015-08-15

    Renal plasma flow (RPF) (derived from renal blood flow, RBF) and glomerular filtration rate (GFR) allow the determination of the filtration fraction (FF), which may have a role as a non-invasive renal biomarker. This is a hypothesis-generating pilot study assessing the effect of nephrectomy on renal function in healthy kidney donors. Eight living kidney donors underwent arterial spin labelling (ASL) magnetic resonance imaging (MRI) and GFR measurement prior to and 1 year after nephrectomy. Chromium-51 labelled ethylenediamine tetraacetic acid ({sup 51}Cr-EDTA) with multi-blood sampling was undertaken and GFR calculated. The RBF and GFR obtained were used to calculate FF. All donors showed an increase in single kidney GFR of 24 - 75 %, and all but two showed an increase in FF (-7 to +52 %) after nephrectomy. The increase in RBF, and hence RPF, post-nephrectomy was not as great as the increase in GFR in seven out of eight donors. As with any pilot study, the small number of donors and their relatively narrow age range are potential limiting factors. The ability to measure RBF, and hence RPF, non-invasively, coupled with GFR measurement, allows calculation of FF, a biomarker that might provide a sensitive indicator of loss of renal reserve in potential donors. (orig.)

  3. Renal blood flow using arterial spin labelling MRI and calculated filtration fraction in healthy adult kidney donors pre-nephrectomy and post-nephrectomy

    International Nuclear Information System (INIS)

    Renal plasma flow (RPF) (derived from renal blood flow, RBF) and glomerular filtration rate (GFR) allow the determination of the filtration fraction (FF), which may have a role as a non-invasive renal biomarker. This is a hypothesis-generating pilot study assessing the effect of nephrectomy on renal function in healthy kidney donors. Eight living kidney donors underwent arterial spin labelling (ASL) magnetic resonance imaging (MRI) and GFR measurement prior to and 1 year after nephrectomy. Chromium-51 labelled ethylenediamine tetraacetic acid (51Cr-EDTA) with multi-blood sampling was undertaken and GFR calculated. The RBF and GFR obtained were used to calculate FF. All donors showed an increase in single kidney GFR of 24 - 75 %, and all but two showed an increase in FF (-7 to +52 %) after nephrectomy. The increase in RBF, and hence RPF, post-nephrectomy was not as great as the increase in GFR in seven out of eight donors. As with any pilot study, the small number of donors and their relatively narrow age range are potential limiting factors. The ability to measure RBF, and hence RPF, non-invasively, coupled with GFR measurement, allows calculation of FF, a biomarker that might provide a sensitive indicator of loss of renal reserve in potential donors. (orig.)

  4. 正常成年人肾脏大小估算公式初探%Individual influencing factors of the normal adult kidney size

    Institute of Scientific and Technical Information of China (English)

    周明; 韩鸿玲; 张卿

    2014-01-01

    Objective To explore the relationship between the size of the kidney and gender,age,height,weight,waist circumference then derive an estimation formula of a normal kidney size for different people.Methods We investigated 1 000 normal cases who accepted the examination in Tianjin Medical University General Hospital from December 2011 to April 2012,including 462 males,538 females,aged 21-78 years.All the investigated subjects were healthy except for hypertension,diabetes,coronary heart disease.Blood urea nitrogen (BUN) and creatinine (Cr),fasting glucose,uric acid,routine urine test were all in the normal range.Height,weight,and waist circumference were measured for all the subjects.The renal length and transverse diameter in supine coronal sections,anteroposterior diameter in vertical cross-section of the renal hilum were measured by the same technical experts with Philip iU22 C5-1,3.5 MHz convex array probe.Results The right and left kidney size both are significantly related to height (right r=0.845,left r=0.876,P<0.01).By multiple regression analysis,there was a significant association between height,weight,body surface area and kidney size (R2>0.5).Linear regression formula for the kidney length and the height(H,cm):Kidney length of men:right 0.059×H+0.144; left:0.061 ×H+0.287.Kidney length of women:right 0.039×H+3.679; left:0.035×H+4.454.Regardless of gender,the formula of left kidney length:0.052× H+0.721.Linear regression formula about the left kidney length and the height,body weight and body surface area (unit:H cm,W kg,BSA m2):0.114×H+0.139×W-10.287×BSA+2.112.Conclusion There is the best correlation between kidney length and height.Height,weight,body surface area have great influence on kidney size.%目的 探讨健康人群肾脏的大小与性别、年龄、身高、体重、腹围的关系,得出肾脏大小的估算公式.方法 2012年12月至2013年4月在天津医科大学总医院健康体检中心查体1 000人,其中男462例,女538

  5. Averting the Legacy of Kidney Disease - Focus on Childhood.

    Science.gov (United States)

    Ingelfinger, Julie R; Kalantar-Zadeh, Kamyar; Schaefer, Franz

    2016-04-01

    World Kidney Day 2016 focuses on kidney disease in childhood and the antecedents of adult kidney disease that can begin in earliest childhood. Chronic kidney disease (CKD) in childhood differs from that in adults, as the largest diagnostic group among children includes congenital anomalies and inherited disorders, with glomerulopathies and kidney disease in the setting of diabetes being relatively uncommon. In addition, many children with acute kidney injury will ultimately develop sequelae that may lead to hypertension and CKD in later childhood or in adult life. Children born early or who are small-for date newborns have relatively increased risk for the development of CKD later in life. Persons with a high-risk birth and early childhood history should be watched closely in order to help detect early signs of kidney disease in time to provide effective prevention or treatment. Successful therapy is feasible for advanced CKD in childhood; there is evidence that children fare better than adults, if they receive kidney replacement therapy including dialysis and transplantation, while only a minority of children may require this ultimate intervention. Because there are disparities in access to care, effort is needed so that those children with kidney disease, wherever they live, may be treated effectively, irrespective of their geographic or economic circumstances. Our hope is that World Kidney Day will inform the general public, policy makers and caregivers about the needs and possibilities surrounding kidney disease in childhood. PMID:27536691

  6. Averting the legacy of kidney disease - Focus on childhood

    Directory of Open Access Journals (Sweden)

    Julie R Ingelfinger

    2016-01-01

    Full Text Available World Kidney Day 2016 focuses on kidney disease in childhood and the antecedents of adult kidney disease that can begin in earliest childhood. Chronic kidney disease (CKD in childhood differs from that in adults, as the largest diagnostic group among children includes congenital anomalies and inherited disorders, with glomerulopathies and kidney disease in the setting of diabetes being relatively uncommon. In addition, many children with acute kidney injury will ultimately develop sequelae that may lead to hypertension and CKD in later childhood or in adult life. Children born early or who are small-for date newborns have relatively increased risk for the development of CKD later in life. Persons with a high-risk birth and early childhood history should be watched closely in order to help detect early signs of kidney disease in time to provide effective prevention or treatment. Successful therapy is feasible for advanced CKD in childhood; there is evidence that children fare better than adults, if they receive kidney replacement therapy including dialysis and transplantation, while only a minority of children may require this ultimate intervention Because there are disparities in access to care, effort is needed so that those children with kidney disease, wherever they live, may be treated effectively, irrespective of their geographic or economic circumstances. Our hope is that World Kidney Day will inform the general public, policy makers and caregivers about the needs and possibilities surrounding kidney disease in childhood.

  7. Averting the legacy of kidney disease--focus on childhood

    Directory of Open Access Journals (Sweden)

    Julie R Ingelfinger

    2016-03-01

    Full Text Available World Kidney Day 2016 focuses on kidney disease in childhood and the antecedents of adult kidney disease that can begin in earliest childhood. Chronic kidney disease (CKD in childhood differs from that in adults, as the largest diagnostic group among children includes congenital anomalies and inherited disorders, with glomerulopathies and kidney disease in the setting of diabetes being relatively uncommon. In addition, many children with acute kidney injury will ultimately develop sequelae that may lead to hypertension and CKD in later childhood or in adult life. Children born early or who are small-for date newborns have relatively increased risk for the development of CKD later in life. Persons with a high-risk birth and early childhood history should be watched closely in order to help detect early signs of kidney disease in time to provide effective prevention or treatment. Successful therapy is feasible for advanced CKD in childhood; there is evidence that children fare better than adults, if they receive kidney replacement therapy including dialysis and transplantation, while only a minority of children may require this ultimate intervention Because there are disparities in access to care, effort is needed so that those children with kidney disease, wherever they live, may be treated effectively, irrespective of their geographic or economic circumstances. Our hope is that World Kidney Day will inform the general public, policy makers and caregivers about the needs and possibilities surrounding kidney disease in childhood.

  8. Averting the legacy of kidney disease – focus on childhood

    Directory of Open Access Journals (Sweden)

    Julie R. Ingelfinger

    2016-03-01

    Full Text Available World Kidney Day 2016 focuses on kidney disease in childhood and the antecedents of adult kidney disease that can begin in earliest childhood. Chronic kidney disease (CKD in childhood differs from that in adults, as the largest diagnostic group amongst children includes congenital anomalies and inherited disorders, with glomerulopathies and kidney disease in the setting of diabetes being relatively uncommon. In addition, many children with acute kidney injury will ultimately develop sequelae that may lead to hypertensionand CKD in later childhood or in adult life. Children born early or who are small-for-date newborns have relatively increased risk for the development of CKD later in life. Persons with a high-risk birth and early childhood history should be watched closely to help to detect early signs of kidney disease in time to provide effective prevention or treatment. Successful therapy is feasible for advanced CKD in childhood; there is evidence that children fare better than adults, if they receive kidney replacement therapy including dialysis and transplantation, whilst only a minority of children may require this ultimate intervention. Because there are disparities in access to care, effort is needed so that children with kidney disease, wherever they live, may be treated effectively, irrespective of their geographic oreconomic circumstances. Our hope is that World Kidney Day will inform the general public, policymakers and caregivers about the needs and possibilities surrounding kidney disease in childhood.

  9. Averting the legacy of kidney disease - focus on childhood

    Directory of Open Access Journals (Sweden)

    J.R. Ingelfinger

    2016-01-01

    Full Text Available World Kidney Day 2016 focuses on kidney disease in childhood and the antecedents of adult kidney disease that can begin in earliest childhood. Chronic kidney disease (CKD in childhood differs from that in adults, in that the largest diagnostic group among children includes congenital anomalies and inherited disorders, with glomerulopathies and kidney disease as a consequence of diabetes being relatively uncommon. In addition, many children with acute kidney injury will ultimately develop sequelae that may lead to hypertension and CKD in later childhood or in adult life. Children born early or who are small-for-date newborns have relatively increased risk for the development of CKD later in life. Persons with a high-risk birth and early childhood history should be watched closely in order to help detect early signs of kidney disease in time to provide effective prevention or treatment. Successful therapy is feasible for advanced CKD in childhood; there is evidence that children fare better than adults, if they receive kidney replacement therapy including dialysis and transplantation, although only a minority of children may require this ultimate intervention. Because there are disparities in access to care, effort is needed so that children with kidney disease, wherever they live, may be treated effectively, irrespective of their geographic or economic circumstances. Our hope is that the World Kidney Day will inform the general public, policy makers and caregivers about the needs and possibilities surrounding kidney disease in childhood.

  10. Hirsutism and acne in polycystic ovary syndrome.

    Science.gov (United States)

    Archer, Johanna S; Chang, R Jeffrey

    2004-10-01

    Polycystic ovary syndrome (PCOS) is the most common endocrine abnormality affecting reproductive age women. Population-based studies estimate a prevalence of 5-10% [Obstet Gynecol 101 (2003) 995; Aust N Z J Obstet Gynaecol 41 (2001) 202]. The clinical characteristics of PCOS include hyperandrogenism, chronic anovulation, insulin resistance and infertility. Hyperandrogenism is generally manifested as hirsutism and acne. Both these clinical symptoms are treated with similar drug therapies, including oral contraceptive pills (OCPs), topical medications or antiandrogens such as spironolactone, flutamide and finasteride, as well as topical medications. Recent studies have shown that lower doses of these medications are as efficacious as high doses and have the advantage of decreased cost and an improved side-effect profile. Although hirsutism and acne can be considered cosmetic in nature, they cause significant social embarrassment and emotional distress. Physicians should be sensitive to these issues and approach patients in a caring and sympathetic manner. PMID:15380144

  11. Polycystic Ovary Syndrome, Obesity, and Pregnancy.

    Science.gov (United States)

    Joham, Anju E; Palomba, Stefano; Hart, Roger

    2016-03-01

    Polycystic ovary syndrome (PCOS) is a common endocrine disorder affecting up to one in five reproductive-aged women. It is underpinned by insulin resistance and hyperandrogenism and is associated with metabolic, reproductive, and psychological features. Women with PCOS have higher rates of obesity and central adiposity compared with women without PCOS, and weight strongly influences prevalence and clinical severity of PCOS. Women with PCOS may have subfertility and women should be aware of factors affecting fertility, in particular the impact of obesity and age. Once pregnant, women with PCOS have significantly increased risk of pregnancy-related complications including gestational diabetes, hypertensive disorders, premature delivery, and delivery by cesarean section. The offspring of women with PCOS may have increased risk of congenital abnormalities and hospitalization in childhood. Clinicians should be aware of the increased risk and screen, prevent, and manage accordingly. PMID:26854709

  12. Endogenous thrombin potential in polycystic ovary syndrome

    DEFF Research Database (Denmark)

    Aziz, Mubeena; Sidelmann, Johannes J; Wissing, Marie Louise Muff;

    2015-01-01

    OBJECTIVES: The objective of this study is to investigate plasma endogenous thrombin generation in four different phenotypes of polycystic ovary syndrome (PCOS) defined by Body Mass Index (BMI) and insulin resistance (IR). PCOS is diagnosed according to the Rotterdam criteria. DESIGN: Multicenter...... cross-sectional study. SETTING: Two major University Hospitals in the Capital region of Denmark. PATIENTS: Hundred forty-eight European women with PCOS were consecutively recruited during April 2010-February 2012. Clinical examination, blood sampling, and DEXA scan were performed. MAIN OUTCOME MEASURES......: Endogenous thrombin potential (ETP). RESULTS: PCOS women with phenotype BMI > 25 + IR have increased potential of thrombin generation. ETP is associated with total body fat mass, IR, and CRP. CONCLUSIONS: Obese and insulin resistant women with PCOS have elevated level of ETP corresponding to increased risk...

  13. KIDNEY ANOMALIES: HORSE SHOE KIDNEY

    OpenAIRE

    Hemalatha; Komarabattina; Nageshwar Rao; Kotikala Prabhakara

    2015-01-01

    INTRODUCTION : Horse Shoe Kidney was first recognized during an autopsy by De Carpi in 1521. This anomaly consists of two distinct renal masses lying vertically on either side of the midline and connected at their respective lower poles by a parenchymatous or fibrous isthmus that crosses the mid pl ane of the body. This isthmus lies at the level of 4th lumbar vertebra just beneath the origin of inferior mesenteric ...

  14. Treatment options for polycystic ovary syndrome

    Directory of Open Access Journals (Sweden)

    Ahmed Badawy

    2011-02-01

    Full Text Available Ahmed Badawy1 Abubaker Elnashar21Department of Obstetrics and Gynecology, Mansoura University, Mansoura, Egypt; 2Department of Obstetrics and Gynecology, Benha University, Benha, EgyptAbstract: Polycystic ovary syndrome (PCOS is the most common endocrine disorder in women. The clinical manifestation of PCOS varies from a mild menstrual disorder to severe disturbance of reproductive and metabolic functions. Management of women with PCOS depends on the symptoms. These could be ovulatory dysfunction-related infertility, menstrual disorders, or androgen-related symptoms. Weight loss improves the endocrine profile and increases the likelihood of ovulation and pregnancy. Normalization of menstrual cycles and ovulation could occur with modest weight loss as little as 5% of the initial weight. The treatment of obesity includes modifications in lifestyle (diet and exercise and medical and surgical treatment. In PCOS, anovulation relates to low follicle-stimulating hormone concentrations and the arrest of antral follicle growth in the final stages of maturation. This can be treated with medications such as clomiphene citrate, tamoxifen, aromatase inhibitors, metformin, glucocorticoids, or gonadotropins or surgically by laparoscopic ovarian drilling. In vitro fertilization will remain the last option to achieve pregnancy when others fail. Chronic anovulation over a long period of time is also associated with an increased risk of endometrial hyperplasia and carcinoma, which should be seriously investigated and treated. There are androgenic symptoms that will vary from patient to patient, such as hirsutism, acne, and/or alopecia. These are troublesome presentations to the patients and require adequate treatment. Alternative medicine has been emerging as one of the commonly practiced medicines for different health problems, including PCOS. This review underlines the contribution to the treatment of different symptoms.Keywords: treatment, polycystic ovary

  15. Antennas of organ morphogenesis: the roles of cilia in vertebrate kidney development.

    Science.gov (United States)

    Marra, Amanda N; Li, Yue; Wingert, Rebecca A

    2016-09-01

    Cilia arose early during eukaryotic evolution, and their structural components are highly conserved from the simplest protists to complex metazoan species. In recent years, the role of cilia in the ontogeny of vertebrate organs has received increasing attention due to a staggering correlation between human disease and dysfunctional cilia. In particular, the presence of cilia in both the developing and mature kidney has become a deep area of research due to ciliopathies common to the kidney, such as polycystic kidney disease (PKD). Interestingly, mutations in genes encoding proteins that localize to the cilia cause similar cystic phenotypes in kidneys of various vertebrates, suggesting an essential role for cilia in kidney organogenesis and homeostasis as well. Importantly, the genes so far identified in kidney disease have conserved functions across species, whose kidneys include both primary and motile cilia. Here, we aim to provide a comprehensive description of cilia and their role in kidney development, as well as highlight the usefulness of the zebrafish embryonic kidney as a model to further understand the function of cilia in kidney health.

  16. Preferential effectiveness of cyclosporin in patients receiving kidney transplants after glomerulonephritis.

    Science.gov (United States)

    Cats, S; Terasaki, P I; Perdue, S; Mickey, M R

    1985-03-01

    Glomerulonephritis patients transplanted with cadaver kidneys had a significantly higher one-year graft survival when immunosuppressed with cyclosporin rather than standard therapy (80% versus 59%, p less than 10(-5]. For nephrosclerosis patients the corresponding rates were 70% and 59% (p greater than 0.05); and in those with antecedent diabetes mellitus, polycystic kidney, and pyelonephritis the differences were negligible. In glomerulonephritis patients, but not in the other groups, cyclosporin was additive to the effect of transfusions and of HLA-A, B and HLA-Dr matching. PMID:2857855

  17. Neurocognitive Outcomes in Children with Chronic Kidney Disease: Current Findings and Contemporary Endeavors

    Science.gov (United States)

    Gerson, Arlene C.; Butler, Robert; Moxey-Mims, Marva; Wentz, Alicia; Shinnar, Shlomo; Lande, Marc B.; Mendley, Susan R.; Warady, Bradley A.; Furth, Susan L.; Hooper, Stephen R.

    2006-01-01

    Given the rise in chronic kidney disease (CKD) in both children and adults, CKD has recently been targeted as a public health priority. Childhood onset kidney disease is generally a noncurable and progressive condition that leads to kidney failure by early adulthood. Fortunately, improved identification of kidney problems allows for early…

  18. Serum Visfatin in Iraqi Women with Polycystic Ovary Syndrome

    Directory of Open Access Journals (Sweden)

    Ali N. Hussaien

    2015-09-01

    Full Text Available Visfatin is a peptide that is predominantly expressed and secreted from adipose tissue and exerts insulinmimicking effects through activation of an insulin receptor. The aim of this study to evaluated serum visfatin level in both lean and obese Polycystic Ovary Syndrome (PCOS subjects before and after treatment with metformin . This study included (80 women, 20 lean with PCOS (BMI 30 kg m-2 and (group C include 40 healthy normally menstruating women (20 lean and 20 obese are control. All these groups were detected after treatment with metformin for 3 months. Metformin was given at doses up to 1500 mg/day for three month; the patients with polycystic ovary syndrome were attended to obstetrics and gynecology outpatient and primary health care outpatient in Al – Yarmouk Teaching Hospital, and Kamal-Al-Samaraae Hospital. The control subjects were recruited mainly from medical students and staff. Serum visfatin was estimated before and after treatment. A results showed that significant high increase in mean serum visfatin level in lean polycystic ovary syndrome compared to control lean (6.35±1.07 ng/ml versus 0.26±0.11 ng/ml, P=0.0001* ,and also in obese polycystic ovary syndrome showed a significant increase compared to control obese(1.31±0.39 ng/ml versus 0.29±0.08 ng/ml, P=0.0001*. Serum visfatin was reduced in both lean and obese polycystic ovary syndrome after treatment with metformin. By this study, we can conclude Serum Visfatin level increased in polycystic ovary syndrome groups and this increment is high in lean group. These findings might suggest that visfatin could play a role in pathogenesis of polycystic ovary syndrome. Metformin decrease serum visfatin level in both lean and obese groups.

  19. Early monitoring of the human polyomavirus BK replication and sequencing analysis in a cohort of adult kidney transplant patients treated with basiliximab

    Directory of Open Access Journals (Sweden)

    Mischitelli Monica

    2011-08-01

    Full Text Available Abstract Background Nowadays, better immunosuppressors have decreased the rates of acute rejection in kidney transplantation, but have also led to the emergence of BKV-associated nephropathy (BKVAN. Therefore, we prospectively investigated BKV load in plasma and urine samples in a cohort of kidney transplants, receiving basiliximab combined with a mycophenolate mofetil-based triple immunotherapy, to evaluate the difference between BKV replication during the first 3 months post-transplantation, characterized by the non-depleting action of basiliximab, versus the second 3 months, in which the maintenance therapy acts alone. We also performed sequencing analysis to assess whether a particular BKV subtype/subgroup or transcriptional control region (TCR variants were present. Methods We monitored BK viruria and viremia by quantitative polymerase chain reaction (Q-PCR at 12 hours (Tx, 1 (T1, 3 (T2 and 6 (T3 months post-transplantation among 60 kidney transplant patients. Sequencing analysis was performed by nested-PCR with specific primers for TCR and VP1 regions. Data were statistically analyzed using χ2 test and Student's t-test. Results BKV was detected at Tx in 4/60 urine and in 16/60 plasma, with median viral loads of 3,70 log GEq/mL and 3,79 log GEq/mL, respectively, followed by a significant increase of both BKV-positive transplants (32/60 and median values of viruria (5,78 log GEq/mL and viremia (4,52 log GEq/mL at T2. Conversely, a significantly decrease of patients with viruria and viremia (17/60 was observed at T3, together with a reduction of the median urinary and plasma viral loads (4,09 log GEq/mL and 4,00 log GEq/mL, respectively. BKV TCR sequence analysis always showed the presence of archetypal sequences, with a few single-nucleotide substitutions and one nucleotide insertion that, interestingly, were all representative of the particular subtypes/subgroups we identified by VP1 sequencing analysis: I/b-2 and IV/c-2. Conclusions Our

  20. Insulin Resistance, Metabolic Syndrome, and Polycystic Ovary Syndrome in Obese Youth.

    Science.gov (United States)

    Platt, Adrienne M

    2015-07-01

    School nurses are well aware of the childhood obesity epidemic in the United States, as one in three youth are overweight or obese. Co-morbidities found in overweight or obese adults were not commonly found in youth three decades ago but are now increasingly "normal" as the obesity epidemic continues to evolve. This article is the second of six related articles discussing the co-morbidities of childhood obesity and discusses the complex association between obesity and insulin resistance, metabolic syndrome, and polycystic ovary syndrome. Insulin resistance increases up to 50% during puberty, which may help to explain why youth are more likely to develop co-morbidities as teens. Treatment of these disorders is focused on changing lifestyle habits, as a child cannot change his or her pubertal progression, ethnicity, or family history. School nurses and other personnel can assist youth with insulin resistance, metabolic syndrome, and polycystic ovary syndrome by supporting their efforts to make changes, reinforcing that insulin resistance is not necessarily type 2 diabetes even if the child is taking medication, and intervening with negative peer pressure. PMID:25816425

  1. Results of percutaneous sclerotherapy and surgical treatment in patients with symptomatic simple liver cysts and polycystic liver disease

    Institute of Scientific and Technical Information of China (English)

    Deha Erdogan; Otto M van Delden; Erik AJ Rauws; Olivier RC Busch; Johan S Lameris; Dirk J Gouma; Thomas M van Gulik

    2007-01-01

    AIM: To evaluate the results of the treatment of simple liver cysts (solitary and multiple) and polycystic liver disease (PLD) using percutaneous sclerotherapy and/or surgical procedures in a single tertiary referral centre.METHODS: Retrospective analysis of 54 patients referred for evaluation and possible treatment of simple liver cysts (solitary and multiple) and PLD, from January 1997 to July 2006.RESULTS: Simple liver cysts were treated in 41 pts (76%) with a mean size of 12.6 cm. The most common reason for referral was abdominal pain or discomfort (85%). Percutaneous sclerotherapy was performed as initial treatment in 30 pts, showing cyst recurrence in 6 pts (20%). Surgical treatment was initially performed in 11 pts with cyst recurrence in 3 pts (27%). PLD was treated in 13 pts (24%) with a mean size of the dominant cyst of 13 cm. Percutaneous sclerotherapy for PLD was performed in 9 pts with recurrence in 7 pts (77.8%). Surgical treatment for PLD was undertaken in 4 pts (30.8%) with recurrence in all. Eventually, 2 pts with PLD in the presence of polycystic kidney disease underwent liver- and kidney transplantation because of deterioration of liver and kidney function.CONCLUSION: The majority of patients with simple liver cysts and PLD are referred for progressive abdominal pain. As initial treatment, percutaneous sclerotherapy is appropriate. Surgical deroofing is indicated in case of cyst recurrence after percutaneous sclerotherapy. However, the results of percutaneous sclerotherapy and surgical treatment for PLD are disappointing. Partial liver resection is indicated when there is suspicion of a pre-malignant lesion.

  2. 广西贺州城镇成人慢性肾脏病的流行病学调查%Epidemiologic investigation of chronic kidney disease in adult urban population of Hezhou Guangxi

    Institute of Scientific and Technical Information of China (English)

    廖蕴华; 彭育欢; 陈强文; 苏飞群; 周翠屏; 黎水莲; 潘玲; 陈青云; 黄莉; 霍冬梅; 宋雅珊; 陈莹; 唐曦平; 马健皓

    2008-01-01

    Objective To investigate the prevalence and risk factors of chronic kidney disease (CKD) in the adult urban population of Hezhou Guangxi. Methods One thousand and two hundred urban residents (older than 18 years) from Hezhou Guangxi were randomly selected using a random sampling. All the residents were interviewed. Their morning spot urine were tested to determine albumin to ereatinine ratio (abnormal:≥30 mg/g), and renal function [abnomal: eMDRD <60 ml·min-1·(1.73 m2)-1] was assessed. Morning spot urine dipstick of hematuria (abnormal:≥1 +) was confirmed by microscopy (abnormal: 3 red blood cells/HP). The associations among demographic characteristics, health eharacteristies and indicators of kidney damage were examined. Results Eligible data of 1069 subjects were enrolled in the study. The prevalence of albuminuria was 7.5%, hematuria 4.8%, and reduced eGFR 3.6%. The prevalence of kidney disease was 14.4% and the recognition was 1.4%. Age (OR 1.022, 95%CI 1.008-1.035), gender (OR 2.249, 95%CI 1.502-3.367), diabetes mellitus (OR 7.422, 95%CI 3.985-13.825) and hypertension (OR 4.397, 95% CI 2.601-7.432) were independently associated with CKD. Conclusions The prevalence of chronic kidney disease is 14.4% and the recognition is 1.4% in adult urban population of Hezhou Guangxi. Independent risk factors associated with chronic kidney disease are age, gender, diabetes mellitus and hypertension which is similar to those in developed countries and domestic big cities.%目的 探讨广西贺州城镇成人慢性肾脏病(CKD)的患病情况及危险因素.方法 在广西中小城市贺州,采用分层整群系统随机抽样的方法,抽取贺州部分城镇1200名18岁以上的常住居民,对其进行问卷调查、检测肾脏损伤指标及相关危险因素.结果 在资料完整的1069名居民中,白蛋白尿的患病率为7.5%;血尿的患病率为4.8%,肾功能下降的患病率为3.6%.该人群CKD的患病率为14.4%,知晓率为1.4%.二分类Logistic回

  3. Kidney Stones in Children

    Science.gov (United States)

    ... 345 KB) Alternate Language URL Kidney Stones in Children Page Content On this page: What is a ... the ureters. [ Top ] Are kidney stones common in children? No exact information about the incidence of kidney ...

  4. Diabetes and Kidney Disease

    Science.gov (United States)

    ... Disease, and Other Dental Problems Diabetic Eye Disease Diabetes and Kidney Disease What are my kidneys and ... urine until releasing it through urination. How can diabetes affect my kidneys? Too much glucose , also called ...

  5. Diabetic Kidney Problems

    Science.gov (United States)

    ... too high. Over time, this can damage your kidneys. Your kidneys clean your blood. If they are damaged, waste ... in your blood instead of leaving your body. Kidney damage from diabetes is called diabetic nephropathy. It ...

  6. Chronic Kidney Disease

    Science.gov (United States)

    You have two kidneys, each about the size of your fist. Their main job is to filter wastes and excess water out of ... help control blood pressure, and make hormones. Chronic kidney disease (CKD) means that your kidneys are damaged ...

  7. Optimal management of subfertility in polycystic ovary syndrome

    Directory of Open Access Journals (Sweden)

    Berger JJ

    2014-06-01

    Full Text Available Joshua J Berger, G Wright Bates JrUniversity of Alabama at Birmingham, Department of Obstetrics and Gynecology, Division of Reproductive Endocrinology and Infertility, Birmingham, AL, USAAbstract: The purpose of this paper is to provide a stepwise approach to treating the infertility/subfertility associated with polycystic ovary syndrome. Defining polycystic ovary syndrome in a patient requires first investigating other possible causes for polycystic ovary morphology, acne, hirsutism, obesity, and the metabolic derangements that often accompany polycystic ovary syndrome. Beginning with lifestyle modification and use of metformin, the progressive inclusion of more intensive therapies for induction of ovulation is described. Second-line treatments are discussed and the new findings from a large multicenter trial are discussed in the context of evidence-based treatment strategies for first-line agents. Finally, monofollicular development as a treatment goal and in vitro fertilization are discussed for those with recalcitrant disease.Keywords: polycystic ovary syndrome, infertility, metformin, ovarian drilling, ovulation induction, subfertility

  8. Polycystic Ovary Induction in Mouse by Testosterone Enanthate

    Directory of Open Access Journals (Sweden)

    Zahra Kalhori

    2014-03-01

    Full Text Available Background &Objective: Polycystic ovary is the most common cause of infertility in Women. Animal models are required for understanding the pathogenesis of polycystic ovary. The objective of this study then was to develop an animal model for inducing the polycystic ovaries using testosterone enanthate.Materials & Methods: In this study, for inducing the polycystic ovary phenotype, female rats about12-14 days-old were injected daily with testosterone enanthate for 2 and 4 weeks (experiment groups: 1 and 2, while the control groups (1 and 2 were injected only with vehicle.The ovaries from both groups were fixed and then were used for histological studies.Results: Testosterone enanthate treatment causes the histological changes in mouse ovary and significantly increased the percentage of preantral and cystic follicles and decreased the percentage of antral follicles in the experiment group, comparing with the control group (P<0.05.Conclusion: It concluded that testosterone enanthate can induces polycystic ovary in mouse.

  9. Congenital giant megaureter associated with ipsilateral multicystic dysplastic kidney in newborn

    Directory of Open Access Journals (Sweden)

    Rajendran Ramaswamy

    2016-01-01

    Full Text Available Congenital giant megaureter presents as abdominal mass and impose diagnostic difficulties. It can be associated with other upper urinary tract anomalies. A female newborn with antenatal diagnosis of polycystic kidneys was admitted at birth due to lower abdominal mass. Ultrasound and CT scans diagnosed a multiloculated cystic lesion in the mid and lower abdomen along with right side multicystic kidney. At laparotomy, an extaperitoneal, lobulated cystic swelling was found due to rightside giant megaureter. Its lower end was of normal caliber and orthotopic. End cutaneous ureterostomy was done. Intravenous urogram and isotope renograms showed nonfunctioning right kidney. She also had grade II vesicoureteral reflux on left side. Child suffered urinary infection twice. At 9m age, right nephroureterectomy was done. Histopathologic examination was consistent with cystic renal dysplasia and dilated ureter. This is the first case report of giant megaureter associated with ipsilateral multicystic dysplastic kidney in newborn.

  10. Kidney stones and kidney function loss: a cohort study

    OpenAIRE

    Alexander, R Todd; Hemmelgarn, Brenda R; Wiebe, Natasha; Bello, Aminu; Morgan, Catherine; Samuel, Susan; Klarenbach, Scott W; Curhan, Gary C.; Tonelli, Marcello

    2012-01-01

    Objective To investigate whether the presence of kidney stones increase the risk of end stage renal disease (ESRD) or other adverse renal outcomes. Design A registry cohort study using validated algorithms based on claims and facility utilisation data. Median follow-up of 11 years. Setting Alberta, Canada, between 1997 and 2009. Participants 3 089 194 adult patients without ESRD at baseline or a history of pyelonephritis. Of these, 1 954 836 had outpatient serum creatinine measurements and we...

  11. Unilateral nephrectomy elongates primary cilia in the remaining kidney via reactive oxygen species.

    Science.gov (United States)

    Han, Sang Jun; Jang, Hee-Seong; Kim, Jee In; Lipschutz, Joshua H; Park, Kwon Moo

    2016-02-29

    The length of primary cilia is associated with normal cell and organ function. In the kidney, the change of functional cilia length/mass is associated with various diseases such as ischemia/reperfusion injury, polycystic kidney disease, and congenital solitary kidney. Here, we investigate whether renal mass reduction affects primary cilia length and function. To induce renal mass reduction, mice were subjected to unilateral nephrectomy (UNx). UNx increased kidney weight and superoxide formation in the remaining kidney. Primary cilia were elongated in proximal tubule cells, collecting duct cells and parietal cells of the remaining kidney. Mn(III) Tetrakis (1-methyl-4-pyridyl) porphyrin (MnTMPyP), an antioxidant, reduced superoxide formation in UNx-mice and prevented the elongation of primary cilia. UNx increased the expression of phosphorylated ERK, p21, and exocyst complex members Sec8 and Sec10, in the remaining kidney, and these increases were prevented by MnTMPyP. In MDCK, a kidney tubular epithelial cell line, cells, low concentrations of H2O2 treatment elongated primary cilia. This H2O2-induced elongation of primary cilia was also prevented by MnTMPyP treatment. Taken together, these data demonstrate that kidney compensation, induced by a reduction of renal mass, results in primary cilia elongation, and this elongation is associated with an increased production of reactive oxygen species (ROS).

  12. Hepatitis B and C co-infection are independent predictors of progressive kidney disease in HIV-positive, antiretroviral-treated adults

    DEFF Research Database (Denmark)

    Mocroft, Amanda; Neuhaus, Jacqueline; Peters, Lars;

    2012-01-01

    Chronic kidney disease (CKD) is an important cause of morbidity and mortality in HIV-positive individuals. Hepatitis C (HCV) co-infection has been associated with increased risk of CKD, but prior studies lack information on potential mechanisms. We evaluated the association between HCV or hepatitis...... B (HBV) co-infection and progressive CKD among 3,441 antiretroviral-treated clinical trial participants. Progressive CKD was defined as the composite of end-stage renal disease, renal death, or significant glomerular filtration rate (eGFR) decline (25% decline to eGFR 800,000 IU/ml had increased...... odds (OR 3.07; 95% CI 1.60-5.90). Interleukin-6, hyaluronic acid, and the FIB-4 hepatic fibrosis index were higher among participants who developed progressive CKD, but were no longer associated with progressive CKD after adjustment. Future studies should validate the relationship between HCV viremia...

  13. Exploratory Study of Total and Free Prednisolone Plasma Exposure and Cushingoid Appearance, Quality of Life and Biochemical Toxicity in Adult Male Kidney Transplant Recipients

    DEFF Research Database (Denmark)

    Bergmann, Troels K; Isbel, Nicole M; Ostini, Remo;

    2015-01-01

    relationships between prednisolone exposure and adverse effects. METHODS: Male kidney transplant recipients were recruited for serial blood sampling and assessment of glucocorticoid-related adverse effects including dyslipidaemia, abnormal body fat distribution, Cushingoid appearance and impaired quality...... of life. Total and free prednisolone plasma concentrations were determined using ultra-high-performance liquid chromatography with tandem mass spectrometric detection. Prednisolone exposure was estimated using a limited sampling strategy. RESULTS: Fifty-six patients were recruited. Patients had a mean age...... of 54 years and median time post-transplantation of 75 months. Median prednisolone dose was 5 mg. Mean area under the plasma concentration-time curve was 2390 nmol h/L (±580) (SD) and 175 nmol h/L (±78) for total and free prednisolone, respectively. Waist to upper arm circumference ratio was positively...

  14. Co-exposure to aluminum and acrylamide disturbs expression of metallothionein, proinflammatory cytokines and induces genotoxicity: Biochemical and histopathological changes in the kidney of adult rats.

    Science.gov (United States)

    Ghorbel, Imen; Maktouf, Sameh; Fendri, Nesrine; Jamoussi, Kamel; Ellouze Chaabouni, Semia; Boudawara, Tahia; Zeghal, Najiba

    2016-09-01

    The individual toxic effects of aluminum and acrylamide are known but there is no data on their combined effects. The present study investigates the toxic effects after combined exposure to these toxicants on: (i) oxidative stress during combined chronic exposure to aluminum and acrylamide on kidney function (ii) correlation of oxidative stress with metallothionein (MT) and inflammatory cytokines expression, DNA damage, and histopathological changes. Rats were exposed to aluminum (50 mg/kg body weight) in drinking water and acrylamide (20 mg/kg body weight) by gavage either individually or in combination for 3 weeks. Exposure rats to aluminum chloride or acrylamide alone and in combination induced nephrotoxicity, as evidenced by a decrease in the 24-h urine volume and uric acid levels in plasma and an increase of plasma creatinine, urea, and blood urea nitrogen levels. Nephrotoxicity was objectified by a significant increase in malondialdehyde level, advanced oxidation protein, and protein carbonyl contents, whereas reduced glutathione, nonprotein thiol, vitamin C levels, catalase, and glutathione peroxidase activities showed a significant decline. Superoxide dismutase activity and its gene expression were increased. Aluminum and acrylamide co-exposure exhibited synergism in various biochemical variables and also in DNA damage. Kidney total MT levels and genes expression of MT1, MT2, and proinflammatory cytokines were increased. All these changes were supported by histopathological observations. Co-exposure to aluminum and acrylamide exhibited synergism and more pronounced toxic effects compared with their individual effects based on various biochemical variables, genotoxic, and histopathological changes. © 2015 Wiley Periodicals, Inc. Environ Toxicol 31: 1044-1058, 2016. PMID:25858877

  15. Profile of peginesatide and its potential for the treatment of anemia in adults with chronic kidney disease who are on dialysis

    Directory of Open Access Journals (Sweden)

    Mikhail A

    2012-05-01

    Full Text Available Ashraf MikhailRenal Unit, Morriston Hospital, Swansea University, Wales, UKAbstract: Peginesatide is a synthetic, dimeric peptide that is covalently linked to polyethylene glycol (PEG. The amino acid sequence of peginesatide is unrelated to that of erythropoietin (EPO and is not immunologically cross-reactive with EPO. Peginesatide binds to and activates the human EPO receptor, stimulating the proliferation and differentiation of human red cell precursors in vitro in a manner similar to other EPO-stimulating agents (ESAs. In Phase II and III studies in dialysis and predialysis patients, peginesatide administered once monthly was as effective as epoetin alfa given thrice weekly (dialysis patients or darbepoetin given once weekly (nondialysis patients, in correcting anemia of chronic kidney disease as well as maintaining hemoglobin within the desired target range. In the dialysis population, the reported side-effect profile of peginesatide was comparable to that known with other marketed ESAs. In the nondialysis studies, compared with those treated with darbepoetin, patients treated with peginesatide experienced a higher adverse-effect profile. Peginesatide is likely to be licensed for treatment of renal anemia in dialysis patients and not in nondialysis patients. Despite this limitation, peginesatide is likely to prove valuable in treating dialysis patients because of its infrequent mode of administration, thereby allowing for a reduced number of injections, with associated better compliance, reduced cold storage requirement, and improved stock accountability. PEGylated therapeutic proteins can elicit immunological response to the PEG moiety of the therapeutic complex. Only long-term experience and post-marketing surveillance will address whether this immunological response will have any impact on the clinical efficacy or safety of peginesatide in clinical practice.Keywords: peginesatide, dialysis, chronic kidney disease

  16. [Evidence-based therapy of polycystic ovarian syndrome].

    Science.gov (United States)

    Gődény, Sándor; Csenteri, Orsolya Karola

    2015-11-01

    Polycystic ovary syndrome is recognized as the most common hormonal and metabolic disorder likely to affect women. The heterogeneous endocrinopathy is characterized by clinical and/or biochemical hyperandrogenism, oligo- or amenorrhoea, anovulatory infertility, and polycystic ovarian morphology. The syndrome is often associated with obesity, hyperinsulinemia and adversely affects endocrine, metabolic, and cardiovascular health. The symptoms and complaint of the patients vary with age. To maximise health gain of the syndrome, adequate, evidence based effective, efficient and safe treatment is necessary. This article summarises the highest available evidence provided by studies, meta-analysis and systematic reviews about the therapeutical possibilities for treating obesity, hyperandrogenism, menstrual abnormalities, infertility and psychological problems related to polycystic ovary syndrome.

  17. Relative length of human kidney as more precise measuring of normal kidney

    Directory of Open Access Journals (Sweden)

    Ilić Goran

    2010-01-01

    Full Text Available Introduction. Malformations in kidney development and kidney diseases are accompanied with changes in their size. For kidney evaluation in clinical practice, the kidney length is the most widely used measurement, since it provides the most precise results and it is easy to perform. Recently, the measurement of relative renal length has become more preferable as it takes into account the body height. The aim of this study was to measure both the absolute and relative length of normal cadaveric kidneys according to the body height, sex and age. Material and methods. In this study, we examined 95 adult cadaveric kidneys, without renal and vascular impairment, their age ranging from 23-87 years. To determine the period of the most abundant changes in kidney length, we separated them into a 10-year range. The relative renal length was calculated using the kidney length anybody height ratio (kidney/body ratio. Results. The absolute and relative length of left kidney in males was longer than the right one, with a statistically significant correlation. In females, the left kidney length was also longer than the right one, however, without a statistical significance. In contrast to the absolute length, the relative length of both kidneys did not show a significant difference between sexes, and did not manifest a significant decrease with age. There was a significant correlation between the kidney length and the subject’s height. Conclusion. The relative renal length represents kidney size better than the absolute renal length because it eliminates sex and height differences until the age of 59 year. From the seventh decade of life, there is a significant decrease in both the absolute and relative renal length.

  18. Is polycystic ovary syndrome a sexual conflict? A review.

    Science.gov (United States)

    Casarini, Livio; Simoni, Manuela; Brigante, Giulia

    2016-04-01

    Several studies have attempted to explain the high overall prevalence of polycystic ovary syndrome among women worldwide (about 4-10%) despite its link to subfertile phenotypes. For this reason, it is considered an evolutionary paradox. In this review, we show that several genetic loci associated with the disease differently modulate the reproductive parameters of men and women. This observation suggests that such genetic variants lead to opposite effects in the two sexes in reproductive success. Intralocus sexual conflict as a cause of the persistence polycystic ovary syndrome genotypes among humans is supported. PMID:26874987

  19. Kidney Disease Basics

    Science.gov (United States)

    ... injury . This can occur in a person with normal kidneys or in someone who already has kidney problems. ... attack. What your kidneys do. You have two kidneys. They are bean-shaped and about the size of a fist. They are located in the ...

  20. Simple Kidney Cysts

    Science.gov (United States)

    ... cysts do not enlarge the kidneys, replace their normal structure, or cause reduced kidney function like cysts do in people with PKD. ... the kidneys and what do they do? The kidneys are two bean-shaped organs, each about the size of a fist. They are located near the ...