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Sample records for diabetes insipidus ndi

  1. Diabetes insipidus - nephrogenic

    Science.gov (United States)

    Nephrogenic diabetes insipidus; Acquired nephrogenic diabetes insipidus; Congenital diabetes insipidus; NDI ... of very dilute urine. NDI is rare. Congenital diabetes insipidus is present at birth. It is a ...

  2. Diabetes Insipidus.

    Science.gov (United States)

    Lu, H A Jenny

    2017-01-01

    Disruption of water and electrolyte balance is frequently encountered in clinical medicine. Regulating water metabolism is critically important. Diabetes insipidus (DI) presented with excessive water loss from the kidney is a major disorder of water metabolism. To understand the molecular and cellular mechanisms and pathophysiology of DI and rationales of clinical management of DI is important for both research and clinical practice. This chapter will first review various forms of DI focusing on central diabetes insipidus (CDI) and nephrogenic diabetes insipidus (NDI ) . This is followed by a discussion of regulatory mechanisms underlying CDI and NDI , with a focus on the regulatory axis of vasopressin, vasopressin receptor 2 (V2R ) and the water channel molecule, aquaporin 2 (AQP2 ). The clinical manifestation, diagnosis and management of various forms of DI will also be discussed with highlights of some of the latest therapeutic strategies that are developed from in vitro experiments and animal studies.

  3. Genetic forms of nephrogenic diabetes insipidus (NDI): Vasopressin receptor defect (X-linked) and aquaporin defect (autosomal recessive and dominant).

    Science.gov (United States)

    Bichet, Daniel G; Bockenhauer, Detlef

    2016-03-01

    Nephrogenic diabetes insipidus (NDI), which can be inherited or acquired, is characterized by an inability to concentrate urine despite normal or elevated plasma concentrations of the antidiuretic hormone, arginine vasopressin (AVP). Polyuria with hyposthenuria and polydipsia are the cardinal clinical manifestations of the disease. About 90% of patients with congenital NDI are males with X-linked NDI who have mutations in the vasopressin V2 receptor (AVPR2) gene encoding the vasopressin V2 receptor. In less than 10% of the families studied, congenital NDI has an autosomal recessive or autosomal dominant mode of inheritance with mutations in the aquaporin-2 (AQP2) gene. When studied in vitro, most AVPR2 and AQP2 mutations lead to proteins trapped in the endoplasmic reticulum and are unable to reach the plasma membrane. Prior knowledge of AVPR2 or AQP2 mutations in NDI families and perinatal mutation testing is of direct clinical value and can avert the physical and mental retardation associated with repeated episodes of dehydration. Copyright © 2016 Elsevier Ltd. All rights reserved.

  4. Nephrogenic diabetes insipidus (NDI: clinical, laboratory and genetic characterization of five Brazilian patients

    Directory of Open Access Journals (Sweden)

    Maria Helena Vaisbich

    2009-05-01

    Full Text Available INTRODUCTION: Nephrogenic diabetes insipidus is characterized by a lack of response in the distal nephron to the antidiuretic hormone arginine vasopressin. Manifestations include polyuria, polydipsia, hyposthenuria, recurrent episodes of dehydration and fever and growth failure. Most cases are caused by mutations in the AVPR2 gene. The mutant receptors are trapped intracellularly. METHOD: We studied five boys using clinical, laboratory and molecular data. The mean age at diagnosis was 14.6 months (range 6 to 24 and 12.2 years (7.8 to 19 after the follow-up period. The mean period of follow-up was 132.2 ± 50.9 months. RESULTS: The geometric means of the z-scores of weight and stature were -4.5 and -3.6, respectively, at diagnosis. At the last medical appointment, the z-scores of weight and stature were -0.3 and -0.9, respectively. Three patients were diagnosed with ureterohydronephrosis and exhibited increased post-void urine volume. Mutations in the AVPR2 gene were found in all patients, and the carrier status was confirmed in four of five cases. Two unrelated children presented identical mutations (S167L in arginine vasopressin R2. Two of the patients had a mutation that has already been described in other Brazilian families (R337X, and one patient showed a de novo mutation (Y128D in arginine vasopressin R2, since his mother's molecular analysis was normal. The recurrence risk for this family was significantly reduced. CONCLUSION: This study reports the clinical and laboratory characterization of Nephrogenic diabetes insipidus and reiterates the importance of the genetic basis that underlies the disease diagnosis and genetic counseling.

  5. Diabetes Insipidus

    Science.gov (United States)

    Diabetes insipidus (DI) causes frequent urination. You become extremely thirsty, so you drink. Then you urinate. This ... is almost all water. DI is different from diabetes mellitus (DM), which involves insulin problems and high ...

  6. [Diabetes insipidus].

    Science.gov (United States)

    Krysiak, Robert; Handzlik-Orlik, Gabriela; Okopień, Bogusław

    2014-01-01

    Diabetes insipidus is an uncommon disorder of water-electrolyte balance characterized by the excretion of abnormally large volumes of diluted urine (polyuria) and increased fluid intake (polydipsia). The disease may result from the insufficient production of vasopressin, its increased degradation, an impaired response of kidneys to vasopressin, or may be secondary to excessive water intake. Patients with severe and uncompensated symptoms may develop marked dehydration, neurologic symptoms and encephalopathy, and therefore diabetes insipidus can be a life-threatening condition if not properly diagnosed and managed. Patients with diabetes insipidus require treatment with desmopressin or drugs increasing sensitivity of the distal nephron to vasopressin, but this treatment may be confusing because of the disorder's variable pathophysiology and side-effects of pharmacotherapy. This review summarizes the current knowledge on different aspects of the pathophysiology, classification, clinical presentation, diagnosis, and management of diabetes insipidus. The reader is also provided with some practical recommendations on dealing with patients suffering from this disease.

  7. Nephrogenic diabetes insipidus in children

    NARCIS (Netherlands)

    Knoers, Nine V A M; Levtchenko, Elena N.

    2015-01-01

    Congenital nephrogenic diabetes insipidus (NDI) is a disorder associated with mutations in either the AVP2R or AQP2 gene, causing the inability of patients to concentrate their pro-urine, which leads to a high risk of dehydration. In this chapter, the clinical aspects as well as the current

  8. Nephrogenic diabetes insipidus.

    Science.gov (United States)

    Bockenhauer, D; Bichet, Daniel G

    2017-04-01

    In nephrogenic diabetes insipidus (NDI), the kidney is unable to concentrate urine despite elevated concentrations of the antidiuretic hormone arginine-vasopressin. In congenital NDI, polyuria and polydipsia are present from birth and should be immediately recognized to avoid severe episodes of dehydration. Unfortunately, NDI is still often recognized late after a 'diagnostic odyssey' involving false leads and dangerous treatments.Once diagnosed, appropriate treatment can be started. Moreover, laboratory studies have identified promising new compounds, which may help achieve urinary concentration independent of vasopressin. MAGED2 mutations caused X-linked polyhydramnios with prematurity and a severe but transient form of antenatal Bartter's syndrome.We distinguish two types of hereditary NDI: a 'pure' type with loss of water only and a complex type with loss of water and ions. Mutations in the AVPR2 or AQP2 genes, encoding the vasopressin V2 receptor and the water channel Aquaporin2, respectively, lead to a 'pure' NDI with loss of water but normal conservation of ions. Mutations in genes that encode membrane proteins involved in sodium chloride reabsorption in the thick ascending limb of Henle's loop lead to Bartter syndrome, a complex polyuric-polydipsic disorder often presenting with polyhydramnios. A new variant of this was recently identified: seven families were described with transient antenatal Bartter's syndrome, polyhydramnios and MAGED2 mutations.Multiple compounds have been identified experimentally that may stimulate urinary concentration independently of the vasopressin V2 receptor. These compounds may provide new treatments for patients with X-linked NDI. A plea for early consideration of the diagnosis of NDI, confirmation by phenotypic and/or genetic testing and appropriate adjustment of treatment in affected patients.

  9. Genetics of Diabetes Insipidus.

    Science.gov (United States)

    Schernthaner-Reiter, Marie Helene; Stratakis, Constantine A; Luger, Anton

    2017-06-01

    Diabetes insipidus is a disease characterized by polyuria and polydipsia due to inadequate release of arginine vasopressin from the posterior pituitary gland (neurohypophyseal diabetes insipidus) or due to arginine vasopressin insensitivity by the renal distal tubule, leading to a deficiency in tubular water reabsorption (nephrogenic diabetes insipidus). This article reviews the genetics of diabetes insipidus in the context of its diagnosis, clinical presentation, and therapy. Copyright © 2017 Elsevier Inc. All rights reserved.

  10. Diabetes insipidus.

    Science.gov (United States)

    Leroy, Clara; Karrouz, Wassila; Douillard, Claire; Do Cao, Christine; Cortet, Christine; Wémeau, Jean-Louis; Vantyghem, Marie-Christine

    2013-12-01

    Diabetes insipidus (DI) is characterized by hypotonic polyuria greater than 3 liters/24 hours in adults and persisting even during water deprivation. It is mostly due to a defect in arginin-vasopressin (AVP) synthesis (central DI); other causes are: AVP resistance (nephrogenic DI), abnormal thirst regulation (primary polydipsia) or early destruction of AVP by placental enzymes (gestational DI). A thorough medical history is warranted to investigate nocturnal persistence of polyuria (night waking being a good sign of its organic nature) to specify the onset and duration of the trouble, the medication use and the potential hereditary nature of the disorder. The next step is based on weight and blood pressure measurements and especially the quantification of beverages and diuresis over a 24-hour cycle. Assessment of signs of dehydration, bladder distention, pituitary hormone hyper- or hyposecretion, tumor chiasmatic syndrome, granulomatosis and cancer is required. The diagnosis is based on biological assessment, pituitary magnetic resonance imaging (MRI) and results of a desmopressin test. In severe forms of DI, urine osmolality remains below 250 mOsmol/kg and serum sodium greater than 145 mmol/L. In partial forms of DI (urine osmolality between 250 and 750), the water deprivation test demonstrating the incapacity to obtain a maximal urine concentration is valuable, together with vasopressin or copeptin measurement. The pituitary MRI is done to investigate the lack of spontaneous hyperintensity signal in the posterior pituitary, which marks the absence of AVP and supports the diagnosis of central DI rather than primary polydipsia (although not absolute); it can also recognize lesions of the pituitary gland or pituitary stalk. Acquired central DI of sudden onset should suggest a craniopharyngioma or germinoma if it occurs before the age of 30 years, and metastasis after the age of 50 years. Fifteen to 20% of head trauma lead to hypopituitarism, including DI in 2% of

  11. Molecular biology of hereditary diabetes insipidus.

    Science.gov (United States)

    Fujiwara, T Mary; Bichet, Daniel G

    2005-10-01

    The identification, characterization, and mutational analysis of three different genes-the arginine vasopressin gene (AVP), the arginine vasopressin receptor 2 gene (AVPR2), and the vasopressin-sensitive water channel gene (aquaporin 2 [AQP2])-provide the basis for understanding of three different hereditary forms of "pure" diabetes insipidus: Neurohypophyseal diabetes insipidus, X-linked nephrogenic diabetes insipidus (NDI), and non-X-linked NDI, respectively. It is clinically useful to distinguish two types of hereditary NDI: A "pure" type characterized by loss of water only and a complex type characterized by loss of water and ions. Patients who have congenital NDI and bear mutations in the AVPR2 or AQP2 genes have a "pure" NDI phenotype with loss of water but normal conservation of sodium, potassium, chloride, and calcium. Patients who bear inactivating mutations in genes (SLC12A1, KCNJ1, CLCNKB, CLCNKA and CLCNKB in combination, or BSND) that encode the membrane proteins of the thick ascending limb of the loop of Henle have a complex polyuro-polydipsic syndrome with loss of water, sodium, chloride, calcium, magnesium, and potassium. These advances provide diagnostic and clinical tools for physicians who care for these patients.

  12. History of Diabetes Insipidus.

    Science.gov (United States)

    Valenti, Giovanna; Tamma, Grazia

    2016-02-01

    Under physiological conditions, fluid and electrolyte homoeostasis is maintained by the kidney adjusting urine volume and composition according to body needs. Diabetes Insipidus is a complex and heterogeneous clinical syndrome affecting water balance and characterized by constant diuresis, resulting in large volumes of dilute urine. With respect to the similarly named Diabetes Mellitus, a disease already known in ancient Egypt, Greece and Asia, Diabetes Insipidus has been described several thousand years later. In 1670s Thomas Willis, noted the difference in taste of urine from polyuric subjects compared with healthy individuals and started the differentiation of Diabetes Mellitus from the more rare entity of Diabetes Insipidus. In 1794, Johann Peter Frank described polyuric patients excreting nonsaccharine urine and introduced the term of Diabetes Insipidus. An hystorical milestone was the in 1913, when Farini successfully used posterior pituitary extracts to treat Diabetes Insipidus. Until 1920s the available evidence indicated Diabetes Insipidus as a disorder of the pituitary gland. In the early 1928, De Lange first observed that some patients with Diabetes Insipidus did not respond to posterior pituitary extracts and subsequently Forssman and Waring in 1945 established that the kidney had a critical role for these forms of Diabetes Insipidus resistant to this treatment. In 1947 Williams and Henry introduced the term Nephrogenic Diabetes Insipidus for the congenital syndrome characterized by polyuria and renal concentrating defect resistant to vasopressin. In 1955, du Vigneaud received the 1955 Nobel Prize in chemistry for the first synthesis of the hormone vasopressin representing a milestone for the treatment of Central Diabetes Insipidus.

  13. Idiopathic central diabetes Insipidus.

    Science.gov (United States)

    Grace, Mary; Balachandran, Venu; Menon, Sooraj

    2011-10-01

    Idiopathic central diabetes insipidus (CDI) is a rare disorder characterized clinically by polyuria and polydipsia, and an abnormal urinary concentration without any identified etiology. We report a case of central diabetes insipidus in a 60-year-old lady in the absence of secondary causes like trauma, infection, and infiltrative disorders of brain.

  14. Familial neurohypophyseal diabetes insipidus

    DEFF Research Database (Denmark)

    Kvistgaard, Helene

    2011-01-01

    Familial neurohypophyseal diabetes insipidus (FNDI) is characterized by severe low-solute polyuria and polydipisa. The disease is caused by a deficient neurosecretion of the antidiuretic hormone arginine vasopressin (AVP). The hormone is normally synthesized by the magnocellular neurons...... as one sporadic case of early-onset diabetes insipidus. Genetic testing of the sporadic case of diabetes insipidus revealed a highly unusual mosaicism for a variation in the gene encoding the AVP receptor (AVPR2). This mosaicism had resulted in a partial phenotype and initial diagnostic difficulties...

  15. Diabetes insipidus in pregnancy

    Science.gov (United States)

    Hague, William M

    2009-01-01

    Diabetes insipidus is an uncommon condition with various aetiologies. Recent research has uncovered new mechanisms underlying the syndrome. Careful attention to management is essential in pregnant women to avoid serious complications. Diabetes insipidus in pregnancy may be due to relative reduction in secretion of AVP from the posterior pituitary (cranial DI), increase in breakdown of AVP by placental cystine aminopeptidase with vasopressinase activity, or resistance of the rental tubules to AVP (nephrogenic DI). PMID:27579058

  16. [Nephrogenic diabetes insipidus].

    Science.gov (United States)

    Velásquez-Jones, Luis; Medeiros-Domingo, Mara

    The anti-diuretic hormone arginine-vasopressin (AVP) is released from the pituitary and regulates water reabsorption in the principal cells of the kidney collecting duct. Binding of AVP to the arginine-vasopressin receptor type-2 in the basolateral membrane leads to translocation of aquaporin-2 water channels to the apical membrane of the principal cells of the collecting duct, inducing water permeability of the membrane. This results in water reabsorption in the collecting duct of the nephron following an osmotic gradient. Nephrogenic diabetes insipidus is caused by partial or complete renal resistance to the effects of AVP. Congenital nephrogenic diabetes insipidus is a disorder associated with mutations in either the AVPR2 or AQP2 gene, causing the inability of patients to concentrate their urine. Acquired nephrogenic diabetes insipidus can be caused by electrolyte imbalances (e.g., hypercalcemia, hypokalemia), renal/extra-renal diseases and drugs (e.g., lithium toxicity). This article reviews the causes, clinical manifestations, diagnosis and treatment of patients with nephrogenic diabetes insipidus. Based on more in-depth mechanistic understanding, new therapeutic strategies are current being explored. Copyright © 2014 Hospital Infantil de México Federico Gómez. Publicado por Masson Doyma México S.A. All rights reserved.

  17. Management of diabetes insipidus in children

    Science.gov (United States)

    Mishra, Garima; Chandrashekhar, Sudha Rao

    2011-01-01

    Diabetes Insipidus (DI) is a heterogeneous clinical syndrome of disturbance in water balance, characterized by polyuria (urine output > 4 ml/kg/hr), polydypsia (water intake > 2 L/m2/d) and failure to thrive. In children, Nephrogenic DI (NDI) is more common than Central DI (CDI), and is often acquired. The signs and symptoms vary with etiology, age at presentation and mode of onset. Neonates and infants with NDI are severely affected and difficult to treat. Diagnosis is based on the presence of high plasma osmolality and low urinary osmolality with significant water diuresis. Water deprivation test with vasopressin challenge, though has limitations, is done to differentiate NDI and CDI and diagnose their partial forms. Measurement of urinary aquaporin 2 and serum copeptin levels are being studied and show promising diagnostic potential. Magnetic Resonance Imaging (MRI) pituitary helps in the etiological diagnosis of CDI, absence of posterior pituitary bright signal being the pathognomic sign. If pituitary stalk thickening of < 2 mm is present, these children need to be monitored for evolving lesion. Neonates and young infants are better managed with fluids alone. Older children with CDI are treated with desmopressin. The oral form is safe, highly effective, with more flexibility of dosing and has largely replaced the intranasal form. In NDI besides treatment of the underlying cause, use of high calorie low solute diet and drugs to ameliorate water excretion (thiazide, amelioride, indomethacin) are useful. Children with NDI however well treated, remain short and have mental retardation on follow up. PMID:22029022

  18. Management of diabetes insipidus in children

    Directory of Open Access Journals (Sweden)

    Garima Mishra

    2011-01-01

    Full Text Available Diabetes Insipidus (DI is a heterogeneous clinical syndrome of disturbance in water balance, characterized by polyuria (urine output > 4 ml/kg/hr, polydypsia (water intake > 2 L/m 2 /d and failure to thrive. In children, Nephrogenic DI (NDI is more common than Central DI (CDI, and is often acquired. The signs and symptoms vary with etiology, age at presentation and mode of onset. Neonates and infants with NDI are severely affected and difficult to treat. Diagnosis is based on the presence of high plasma osmolality and low urinary osmolality with significant water diuresis. Water deprivation test with vasopressin challenge, though has limitations, is done to differentiate NDI and CDI and diagnose their partial forms. Measurement of urinary aquaporin 2 and serum copeptin levels are being studied and show promising diagnostic potential. Magnetic Resonance Imaging (MRI pituitary helps in the etiological diagnosis of CDI, absence of posterior pituitary bright signal being the pathognomic sign. If pituitary stalk thickening of < 2 mm is present, these children need to be monitored for evolving lesion. Neonates and young infants are better managed with fluids alone. Older children with CDI are treated with desmopressin. The oral form is safe, highly effective, with more flexibility of dosing and has largely replaced the intranasal form. In NDI besides treatment of the underlying cause, use of high calorie low solute diet and drugs to ameliorate water excretion (thiazide, amelioride, indomethacin are useful. Children with NDI however well treated, remain short and have mental retardation on follow up.

  19. Diabetes insipidus in children.

    Science.gov (United States)

    Jain, Vandana; Ravindranath, Aathira

    2016-01-01

    Diabetes insipidus (DI) is one of the common disorders affecting sodium and water homeostasis, and results when ADH is either inadequately produced, or unable to negotiate its actions on the renal collecting tubules through aquaporins. The diagnostic algorithm starts with exclusion of other causes of polyuria and establishing low urine osmolality in the presence of high serum osmolality. In this paper, we have reviewed the diagnosis, etiology and management of DI in children, with special emphasis on recent advances in the field.

  20. [Diabetes insipidus and pregnancy].

    Science.gov (United States)

    Gutiérrez Cruz, Oswaldo; Careaga Benítez, Ricardo

    2007-04-01

    Diabetes insipidus is an uncommon pathology; its incidence varies from two to six cases in 100,000 pregnancies. It has multiple etiologies and it is classified in central and neurogenic. Patients with diabetes insipidus generally show intense thirst, polyuria, neurologic symptoms and hypernatremia. It does not seem to alter the patient's fertility. Diabetes insipidus is usually associated with pre-eclampsia, HELLP syndrome, and fatty liver disease of pregnancy. This is a report of a case seen at the Hospital General de Cholula, in Puebla, Mexico. A 19 year-old female, with 37.2 weeks of pregnancy, had a history of Langerhans cell histiocytosis since she was four years. Patient was treated with intranasal desmopressin until 2005. She went to an obstetric evaluation; laboratory and cabinet studies were obtained. A healthy 1900 g female was obtained through vaginal delivery, with a 7/9 Apgar score. We should be familiarized with this uncommon pathology because of its association with several obstetric emergencies.

  1. Intracranial calcification in central diabetes insipidus

    International Nuclear Information System (INIS)

    Al-Kandari, Salwa R.; Pandey, Tarun; Badawi, Mona H.

    2008-01-01

    Intracranial calcification is a known but extremely rare complication of diabetes insipidus. To date, only 16 patients have been reported and all had the peripheral (nephrogenic) type of diabetes insipidus. We report a child with intracranial calcification complicating central diabetes insipidus. We also report a child with nephrogenic diabetes insipidus, and compare the patterns of intracranial calcification. (orig.)

  2. Intracranial calcification in central diabetes insipidus

    Energy Technology Data Exchange (ETDEWEB)

    Al-Kandari, Salwa R. [Al Razi Hospital, Department of Clinical Radiology, Kuwait (Kuwait); Pandey, Tarun [Al Razi Hospital, Department of Clinical Radiology, Kuwait (Kuwait); University of Arkansas for Medical Sciences, Radiology Department, Little Rock, AR (United States); Badawi, Mona H. [Al-Adan Hospital, Department of Paediatrics, Kuwait (Kuwait)

    2008-01-15

    Intracranial calcification is a known but extremely rare complication of diabetes insipidus. To date, only 16 patients have been reported and all had the peripheral (nephrogenic) type of diabetes insipidus. We report a child with intracranial calcification complicating central diabetes insipidus. We also report a child with nephrogenic diabetes insipidus, and compare the patterns of intracranial calcification. (orig.)

  3. Gestational diabetes insipidus. Case Report.

    Science.gov (United States)

    Ejmocka-Ambroziak, Anna; Grzechocińska, Barbara; Jastrzebska, Helena; Kochman, Magdalena; Cyganek, Anna; Wielgoś, Mirosław; Zgliczyński, Wojciech

    2015-01-01

    Gestational diabetes insipidus is a very rare complication. However, undiagnosed and untreated may lead to serious complications in both mother and fetus. In this study, a case of 34-year-old female patient with diabetes insipidus associated with pregnancy was reported. We discussed process of diagnosis and treatment with particular emphasis on the monitoring of water-electrolyte imbalance during labor.

  4. A Rare Case of Congenital Diabetes Insipidus

    Directory of Open Access Journals (Sweden)

    Tanvi eRege

    2015-07-01

    Full Text Available Congenital nephrogenic diabetes insipidus (NDI is a conformation disease resulting from protein misfolding. Ninety percent of mutations result from the inactivating mutations of the arginine vasopressin receptor 2 (AVPR2 gene transmitted in an X-linked fashion, blocking the response to vasopressin, resulting in the inability to concentrate urine. Clinical features include polyuria, polydipsia, dehydration, and hypernatremia. They are generally more severely in affected males but present variably in females due to skewed inactivation of the X chromosome. We describe a case of a 40 year old woman with a history of Type 2 diabetes mellitus, hyperlipidemia, and obesity who presents with debilitating polyuria since the age of five with no clear diagnosis. Interestingly, her son was subsequently diagnosed with NDI. Genetic testing revealed that she was heterozygous for the Val88Met mutation in the AVPR2 gene while her son was hemizygous for the same. The patient has since been successfully treated with diuretics and a low solute diet. We highlight that although X-linked NDI patients are mostly males, it should be considered in symptomatic females to prevent delays in the diagnosis. Conformational diseases such as NDI are presently the subject of research using pharmacological chaperones to restore proper receptor membrane localization and function.

  5. A Rare Case of Congenital Diabetes Insipidus.

    Science.gov (United States)

    Rege, Tanvi; Polsani, Srujana; Jim, Belinda

    2015-01-01

    Congenital nephrogenic diabetes insipidus (NDI) is a conformation disease resulting from protein misfolding. Ninety percent of mutations result from the inactivating mutations of the arginine vasopressin receptor 2 (AVPR2) gene transmitted in an X-linked fashion, blocking the response to vasopressin, resulting in the inability to concentrate urine. Clinical features include polyuria, polydispsia, dehydration, and hypernatremia. They are generally more severely in affected males but present variably in females due to skewed inactivation of the X chromosome. We describe a case of a 40-year-old woman with a history of Type 2 diabetes mellitus, hyperlipidemia, and obesity, who presents with debilitating polyuria since the age of 5 with no clear diagnosis. Interestingly, her son was diagnosed with NDI. Genetic testing revealed that she was heterozygous for the Val88Met mutation in the AVPR2 gene while her son was hemizygous for the same. The patient has since been successfully treated with diuretics and a low solute diet. We highlight that although X-linked NDI patients are mostly males, it should be considered in symptomatic females to prevent delays in the diagnosis. Conformational diseases such as NDI are presently the subject of research using pharmacological chaperones to restore proper receptor membrane localization and function.

  6. V2R mutations and nephrogenic diabetes insipidus.

    Science.gov (United States)

    Bichet, Daniel G

    2009-01-01

    Nephrogenic diabetes insipidus (NDI), which can be inherited or acquired, is characterized by an inability to concentrate urine despite normal or elevated plasma concentrations of the antidiuretic hormone, arginine vasopressin (AVP). Polyuria, with hyposthenuria, and polydipsia are the cardinal clinical manifestations of the disease. Nephrogenic failure to concentrate urine maximally may be due to a defect in vasopressin-induced water permeability of the distal tubules and collecting ducts, to insufficient buildup of the corticopapillary interstitial osmotic gradient, or to a combination of these two factors. Thus, the broadest definition of the term NDI embraces any antidiuretic hormone-resistant urinary-concentrating defect, including medullary disease with low interstitial osmolality, renal failure, and osmotic diuresis. About 90% of patients with congenital NDI are males with X-linked recessive NDI (OMIM 304800)(1) and have mutations in the AVP receptor 2 (AVPR2) gene that codes for the vasopressin V(2) receptor; the gene is located in chromosome region Xq28. In about 10% of the families studied, congenital NDI has an autosomal recessive or autosomal dominant mode of inheritance (OMIM 222000 and 125800)(1). Mutations have been identified in the aquaporin-2 gene (AQP2, OMIM 107777)(1), which is located in chromosome region 12q13 and codes for the vasopressin-sensitive water channel. NDI is clinically distinguishable from neurohypophyseal diabetes insipidus (OMIM 125700(1); also referred to as central or neurogenic diabetes insipidus) by a lack of response to exogenous AVP and by plasma levels of AVP that rise normally with increase in plasma osmolality. Hereditary neurohypophyseal diabetes insipidus is secondary to mutations in the gene encoding AVP (OMIM 192340)(1). Neurohypophyseal diabetes insipidus is also a component of autosomal recessive Wolfram syndrome 1 or DIDMOAD syndrome (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness) (OMIM

  7. [Central diabetes insipidus: diagnostic difficulties].

    Science.gov (United States)

    Matoussi, N; Aissa, K; Fitouri, Z; Hajji, M; Makni, S; Bellagha, I; Ben Becher, S

    2008-06-01

    Central diabetes insipidus is rare in children. Characteristic features include polyuria and polydipsia due to arginine vasopressin deficiency. The differential diagnosis of polyuric states may be difficult. Etiologic diagnosis of central diabetes insipidus may be an equally difficult task. To specify the difficulties encountered in the diagnosis of central diabetes insipidus and to point out features of the etiologic work-up and of long-term follow-up of children with idiopathic central diabetes insipidus. A retrospective study of 12 children admitted with a polyuria/polydipsia syndrome to the pediatric - consultation and emergency unit of the children's hospital of Tunis between 1988 and 2005. Children with acquired nephrogenic central diabetes insipidus were excluded. Fourteen-hour fluid restriction test and/or desmopressin test were used without plasma vasopressin measurement. Eight patients were classified as having central diabetes insipidus, which was severe in seven children and partial in one girl. One patient was classified as having primary polydipsia. The diagnosis remains unclear in three patients. The etiological work-up in eight patients with central diabetes insipidus enabled the identification of Langerhan's-cell histiocytosis in two patients and neurosurgical trauma in one. The cause was considered idiopathic in five patients. The median follow-up of the five patients with idiopathic central diabetes insipidus was five years two months plus or minus six years seven months (range five months, 14.5 years). During this follow-up, neither brain magnetic resonance imaging scans findings nor anterior pituitary function have changed. Fluid restriction and desmopressin tests did not enable an accurate distinction between partial diabetes insipidus and primary polydipsia. Regular surveillance is warranted in patients with idiopathic central diabetes insipidus to identify potential etiologies.

  8. Diabetes Insipidus in Mice with a Mutation in Aquaporin-2.

    Directory of Open Access Journals (Sweden)

    2005-08-01

    Full Text Available Congenital nephrogenic diabetes insipidus (NDI is a disease characterized by failure of the kidney to concentrate urine in response to vasopressin. Human kindreds with nephrogenic diabetes insipidus have been found to harbor mutations in the vasopressin receptor 2 (Avpr2 gene or the vasopressin-sensitive water channel aquaporin-2 (Aqp2 gene. Development of a treatment is rendered difficult due to the lack of a viable animal model. Through forward genetic screening of ethylnitrosourea-mutagenized mice, we report the identification and characterization of a mouse model of NDI, with an F204V mutation in the Aqp2 gene. Unlike previously attempted murine models of NDI, our mice survive to adulthood and more exactly recapitulate the human disorder. Previous in vitro experiments using renal cell lines suggest recessive Aqp2 mutations result in improper trafficking of the mutant water pore. Using these animals, we have directly proven this hypothesis of improper AQP2 translocation as the molecular defect in nephrogenic diabetes insipidus in the intact organism. Additionally, using a renal cell line we show that the mutated protein, AQP2-F204V, is retained in the endoplasmic reticulum and that this abnormal localization can be rescued by wild-type protein. This novel mouse model allows for further mechanistic studies as well as testing of pharmacological and gene therapies for NDI.

  9. Diabetes insipidus during pregnancy.

    Science.gov (United States)

    Ananthakrishnan, Sonia

    2016-03-01

    Diabetes insipidus (DI) in pregnancy is a heterogeneous syndrome, most classically presenting with polyuria and polydipsia that can complicate approximately 1 in 30,000 pregnancies. The presentation can involve exacerbation of central or nephrogenic DI during pregnancy, which may have been either overt or subclinical prior to pregnancy. Women without preexisting DI can also be affected by the actions of placental vasopressinase which increases in activity between the 4th and 38th weeks of gestation, leading to accelerated metabolism of AVP and causing a transient form of DI of pregnancy. This type of DI may be associated with certain complications during pregnancy and delivery, such as preeclampsia. Management of DI of pregnancy depends on the pathophysiology of the disease; forms of DI that lack AVP can be treated with desmopressin (DDAVP), while forms of DI that involve resistance to AVP require evaluation of the underlying causes. Copyright © 2016 Elsevier Ltd. All rights reserved.

  10. Diabetes insipidus and pregnancy.

    Science.gov (United States)

    Chanson, Philippe; Salenave, Sylvie

    2016-06-01

    Diabetes insipidus (DI) is a rare complication of pregnancy. It is usually transient, being due to increased placental production of vasopressinase that inactivates circulating vasopressin. Gestational, transient DI occurs late in pregnancy and disappears few days after delivery. Acquired central DI can also occur during pregnancy, for example in a patient with hypophysitis or neuroinfundibulitis during late pregnancy or postpartum. Finally, pre-existing central or nephrogenic DI may occasionally be unmasked by pregnancy. Treatment with dDAVP (desmopressin, Minirin(®)) is very effective on transient DI of pregnancy and also on pre-existing or acquired central DI. Contrary to vasopressin, dDAVP is not degraded by vasopressinase. Nephrogenic DI is insensitive to dDAVP and is therefore more difficult to treat during pregnancy if fluid intake needs to be restricted. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

  11. Genetics Home Reference: nephrogenic diabetes insipidus

    Science.gov (United States)

    ... with nephrogenic diabetes insipidus produce too much urine (polyuria), which causes them to be excessively thirsty (polydipsia). ... gene have features of nephrogenic diabetes insipidus , including polyuria and polydipsia. A characteristic of X-linked inheritance ...

  12. Vasopressin increases S261 phosphorylation in AQP2-P262L, a mutant in recessive nephrogenic diabetes insipidus

    NARCIS (Netherlands)

    Trimpert, C.; van den Berg, D.T.; Fenton, R.A.; Klussmann, E.; Deen, P.M.T.

    2012-01-01

    Background Mutations in the aquaporin-2 (AQP2) gene cause nephrogenic diabetes insipidus (NDI), a renal disorder characterized by polyuria due to a lacking antidiuretic response to vasopressin. While most AQP2 mutants in recessive NDI are misfolded and retained in the endoplasmic reticulum,

  13. Use of acetazolamide in lithium-induced nephrogenic diabetes insipidus: a case report.

    Science.gov (United States)

    Macau, Ricardo A; da Silva, Tiago Nunes; Silva, Joana Rego; Ferreira, Ana Gonçalves; Bravo, Pedro

    2018-01-01

    Lithium-induced nephrogenic diabetes insipidus (Li-NDI) is a rare and difficult-to-treat condition. A study in mice and two recent papers describe the use of acetazolamide in Li-NDI in 7 patients (a case report and a 6 patient series). We describe the case of a 63-year-old woman with bipolar disorder treated with lithium and no previous history of diabetes insipidus. She was hospitalized due to a bowel obstruction and developed severe dehydration after surgery when she was water deprived. After desmopressin administration and unsuccessful thiazide and amiloride treatment, acetazolamide was administrated to control polyuria and hydroelectrolytic disorders without significant side effects. To our knowledge, this is the third publication on acetazolamide use in Li-NDI patients. Treatment of lithium-induced nephrogenic diabetes insipidus might be challenging.Vasopressin, amiloride and thiazide diuretics have been used in lithium-induced nephrogenic diabetes insipidus treatment.Acetazolamide might be an option to treat lithium-induced nephrogenic diabetes insipidus patients who fail to respond to standard treatment.The use of acetazolamide in lithium-induced nephrogenic diabetes insipidus must be monitored, including its effects on glomerular filtration rate.

  14. Congenital Nephrogenic Diabetes Insipidus Presented With Bilateral Hydronephrosis and Urinary Infection: A Case Report.

    Science.gov (United States)

    Zheng, Kewen; Xie, Yi; Li, Hanzhong

    2016-05-01

    Nephrogenic diabetes insipidus (NDI) is a condition resulting from the kidney's impaired response to circulating antidiuretic hormone (ADH), leading to polydipsia and polyuria. Urinary tract dilatation caused by NDI is a rare situation. Here, we report a case of congenital NDI presented with bilateral hydronephrosis.A 15-year-old boy complaining a history of intermittent fever was admitted to Peking Union Medical College Hospital. He voided 10 to 15 L of urine daily. Radiographic examination revealed severe dilatation of bilateral renal pelvis, ureter, and bladder. Urinalysis shows hyposthenuria.He was diagnosed NDI since born. Transient insertion of a urethral catheter helped to relieve fever. Medical therapy of hydrochlorothiazide and amiloride was prescribed and effective.Dilatation of urinary tract caused by diabetes insipidus is rare, but may be present in severe condition. Therefore, it is crucial for clinicians to perform early treatment to avoid impairment of renal function.

  15. Diabetes insipidus: The other diabetes

    Science.gov (United States)

    Kalra, Sanjay; Zargar, Abdul Hamid; Jain, Sunil M.; Sethi, Bipin; Chowdhury, Subhankar; Singh, Awadhesh Kumar; Thomas, Nihal; Unnikrishnan, A. G.; Thakkar, Piya Ballani; Malve, Harshad

    2016-01-01

    Diabetes insipidus (DI) is a hereditary or acquired condition which disrupts normal life of persons with the condition; disruption is due to increased thirst and passing of large volumes of urine, even at night. A systematic search of literature for DI was carried out using the PubMed database for the purpose of this review. Central DI due to impaired secretion of arginine vasopressin (AVP) could result from traumatic brain injury, surgery, or tumors whereas nephrogenic DI due to failure of the kidney to respond to AVP is usually inherited. The earliest treatment was posterior pituitary extracts containing vasopressin and oxytocin. The synthetic analog of vasopressin, desmopressin has several benefits over vasopressin. Desmopressin was initially available as intranasal preparation, but now the oral tablet and melt formulations have gained significance, with benefits such as ease of administration and stability at room temperature. Other molecules used for treatment include chlorpropamide, carbamazepine, thiazide diuretics, indapamide, clofibrate, indomethacin, and amiloride. However, desmopressin remains the most widely used drug for the treatment of DI. This review covers the physiology of water balance, causes of DI and various treatment modalities available, with a special focus on desmopressin. PMID:26904464

  16. Reversed polarized delivery of an aquaporin-2 mutant causes dominant nephrogenic diabetes insipidus.

    NARCIS (Netherlands)

    Kamsteeg, E.J.; Bichet, D.G.; Konings, I.B.M.; Nivet, H.; Lonergan, M.; Arthus, M.F.; Os, C.H. van; Deen, P.M.T.

    2003-01-01

    Vasopressin regulates body water conservation by redistributing aquaporin-2 (AQP2) water channels from intracellular vesicles to the apical surface of renal collecting ducts, resulting in water reabsorption from urine. Mutations in AQP2 cause autosomal nephrogenic diabetes insipidus (NDI), a disease

  17. alphaENaC-mediated lithium absorption promotes nephrogenic diabetes insipidus

    NARCIS (Netherlands)

    Christensen, B.M.; Zuber, A.M.; Loffing, J.; Stehle, J.C.; Deen, P.M.T.; Rossier, B.C.; Hummler, E.

    2011-01-01

    Lithium-induced nephrogenic diabetes insipidus (NDI) is accompanied by polyuria, downregulation of aquaporin 2 (AQP2), and cellular remodeling of the collecting duct (CD). The amiloride-sensitive epithelial sodium channel (ENaC) is a likely candidate for lithium entry. Here, we subjected transgenic

  18. ADIPSIC DIABETES INSIPIDUS: A REVIEW.

    Science.gov (United States)

    Eisenberg, Yuval; Frohman, Lawrence A

    2016-01-01

    Adipsic diabetes insipidus (ADI) is a rare disorder consisting of central diabetes insipidus (CDI) and a deficient or absent thirst response to hyperosmolality. Patients with ADI experience marked morbidity and mortality. Diagnosis and management of these patients is quite challenging, even in expert hands. In this review, we aim to provide an updated overview of this difficult clinical scenario. We conducted a PubMed search for articles related to ADI. The search terms "adipsia," "adipsic," "thirst," and "diabetes insipidus" were used to identify relevant literature. ADI has been described in only approximately 100 patients. This rarity has limited the quality and quantity of literature to case reports, case series, and expert opinion. Diagnosis focuses on confirmation of CDI followed by documenting subnormal or completely absent thirst in response to a hypertonic stimulus. Among the described patients with ADI, the majority experience morbidity (e.g., severe hypernatremia, sleep apnea, venous thromboembolism [VTE], and obesity) and an increased mortality risk. Management focuses on frequent reassessment of daily prescribed water intake with fixed antidiuretic therapy (desmopressin) and comorbidity screening. The complexity of patients with ADI provides a difficult challenge for clinicians. Prompt recognition of thirst disorders in patients with CDI should lead to appropriately regimented management strategies and can result in safe outpatient care for these unique patients.

  19. Use of acetazolamide in lithium-induced nephrogenic diabetes insipidus: a case report

    Directory of Open Access Journals (Sweden)

    Ricardo A Macau

    2018-02-01

    Full Text Available Lithium-induced nephrogenic diabetes insipidus (Li-NDI is a rare and difficult-to-treat condition. A study in mice and two recent papers describe the use of acetazolamide in Li-NDI in 7 patients (a case report and a 6 patient series. We describe the case of a 63-year-old woman with bipolar disorder treated with lithium and no previous history of diabetes insipidus. She was hospitalized due to a bowel obstruction and developed severe dehydration after surgery when she was water deprived. After desmopressin administration and unsuccessful thiazide and amiloride treatment, acetazolamide was administrated to control polyuria and hydroelectrolytic disorders without significant side effects. To our knowledge, this is the third publication on acetazolamide use in Li-NDI patients.

  20. Nephrogenic diabetes insipidus with intracranial calcification in a child with thalassemia minor.

    Science.gov (United States)

    Dimple, Jain; Alka, Jadhav; Mona, Gajre; Atul, Deshmukh

    2013-09-01

    There are numerous causes for intracranial calcification in children. We describe an unusual cause of intracranial calcification in a child, namely, nephrogenic diabetes insipidus (NDI). A 12-year-old boy presented with seizures and developmental delay. MRI of the brain revealed intracranial calcification. Evaluation showed findings suggestive of NDI. The lack of evidence of any other metabolic defect suggests that these calcifications were secondary to NDI. He also had anemia for which he was investigated and diagnosed as thalassemia minor. Detailed literature review failed to reveal any reported association between NDI and thalassemia minor. We report this case to emphasize the importance of early diagnosis and treatment of NDI to prevent organic brain damage.

  1. [Gestational diabetes insipidus during a twin pregnancy].

    Science.gov (United States)

    De Mesmay, M; Rigouzzo, A; Bui, T; Louvet, N; Constant, I

    2013-02-01

    Gestational diabetes insipidus is an uncommon clinical disease whose prevalence is approximately two to three pregnancies per 100,000. It may be isolated or associated with preeclampsia. We report a case of gestational diabetes insipidus in a twin pregnancy, originally isolated during two months, and secondarily complicated by HELLP-syndrome. We recall the specific pathophysiology of polyuric-polydipsic syndrome during pregnancy and summarize its various causes. Finally, we discuss the indications, in case of isolated gestational diabetes insipidus, of treatment by dDAVP. Copyright © 2013. Published by Elsevier SAS.

  2. Transient central diabetes insipidus following ischemic stroke

    Directory of Open Access Journals (Sweden)

    Muthukrishnan Jayaraman

    2013-01-01

    Full Text Available Central Diabetes Insipidus (CDI following ischemic infarction of the brain has been described as a rare presentation. Posterior pituitary ischemia has also been postulated as a possible cause of idiopathic CDI. We encountered a young male with bilateral extensive ischemic infarction sustained at high altitude, who had transient polyuria due to central diabetes insipidus, requiring desmopressin therapy. DI completely resolved during the course of his neurological recovery.

  3. Hereditary Nephrogenic Diabetes Insipidus: Pathophysiology and Possible Treatment. An Update.

    Science.gov (United States)

    Milano, Serena; Carmosino, Monica; Gerbino, Andrea; Svelto, Maria; Procino, Giuseppe

    2017-11-10

    Under physiological conditions, excessive loss of water through the urine is prevented by the release of the antidiuretic hormone arginine-vasopressin (AVP) from the posterior pituitary. In the kidney, AVP elicits a number of cellular responses, which converge on increasing the osmotic reabsorption of water in the collecting duct. One of the key events triggered by the binding of AVP to its type-2 receptor (AVPR2) is the exocytosis of the water channel aquaporin 2 (AQP2) at the apical membrane the principal cells of the collecting duct. Mutations of either AVPR2 or AQP2 result in a genetic disease known as nephrogenic diabetes insipidus, which is characterized by the lack of responsiveness of the collecting duct to the antidiuretic action of AVP. The affected subject, being incapable of concentrating the urine, presents marked polyuria and compensatory polydipsia and is constantly at risk of severe dehydration. The molecular bases of the disease are fully uncovered, as well as the genetic or clinical tests for a prompt diagnosis of the disease in newborns. A real cure for nephrogenic diabetes insipidus (NDI) is still missing, and the main symptoms of the disease are handled with s continuous supply of water, a restrictive diet, and nonspecific drugs. Unfortunately, the current therapeutic options are limited and only partially beneficial. Further investigation in vitro or using the available animal models of the disease, combined with clinical trials, will eventually lead to the identification of one or more targeted strategies that will improve or replace the current conventional therapy and grant NDI patients a better quality of life. Here we provide an updated overview of the genetic defects causing NDI, the most recent strategies under investigation for rescuing the activity of mutated AVPR2 or AQP2, or for bypassing defective AVPR2 signaling and restoring AQP2 plasma membrane expression.

  4. Hereditary Nephrogenic Diabetes Insipidus: Pathophysiology and Possible Treatment. An Update

    Directory of Open Access Journals (Sweden)

    Serena Milano

    2017-11-01

    Full Text Available Under physiological conditions, excessive loss of water through the urine is prevented by the release of the antidiuretic hormone arginine-vasopressin (AVP from the posterior pituitary. In the kidney, AVP elicits a number of cellular responses, which converge on increasing the osmotic reabsorption of water in the collecting duct. One of the key events triggered by the binding of AVP to its type-2 receptor (AVPR2 is the exocytosis of the water channel aquaporin 2 (AQP2 at the apical membrane the principal cells of the collecting duct. Mutations of either AVPR2 or AQP2 result in a genetic disease known as nephrogenic diabetes insipidus, which is characterized by the lack of responsiveness of the collecting duct to the antidiuretic action of AVP. The affected subject, being incapable of concentrating the urine, presents marked polyuria and compensatory polydipsia and is constantly at risk of severe dehydration. The molecular bases of the disease are fully uncovered, as well as the genetic or clinical tests for a prompt diagnosis of the disease in newborns. A real cure for nephrogenic diabetes insipidus (NDI is still missing, and the main symptoms of the disease are handled with s continuous supply of water, a restrictive diet, and nonspecific drugs. Unfortunately, the current therapeutic options are limited and only partially beneficial. Further investigation in vitro or using the available animal models of the disease, combined with clinical trials, will eventually lead to the identification of one or more targeted strategies that will improve or replace the current conventional therapy and grant NDI patients a better quality of life. Here we provide an updated overview of the genetic defects causing NDI, the most recent strategies under investigation for rescuing the activity of mutated AVPR2 or AQP2, or for bypassing defective AVPR2 signaling and restoring AQP2 plasma membrane expression.

  5. Hereditary Nephrogenic Diabetes Insipidus: Pathophysiology and Possible Treatment. An Update

    Science.gov (United States)

    Milano, Serena; Carmosino, Monica; Gerbino, Andrea; Svelto, Maria

    2017-01-01

    Under physiological conditions, excessive loss of water through the urine is prevented by the release of the antidiuretic hormone arginine-vasopressin (AVP) from the posterior pituitary. In the kidney, AVP elicits a number of cellular responses, which converge on increasing the osmotic reabsorption of water in the collecting duct. One of the key events triggered by the binding of AVP to its type-2 receptor (AVPR2) is the exocytosis of the water channel aquaporin 2 (AQP2) at the apical membrane the principal cells of the collecting duct. Mutations of either AVPR2 or AQP2 result in a genetic disease known as nephrogenic diabetes insipidus, which is characterized by the lack of responsiveness of the collecting duct to the antidiuretic action of AVP. The affected subject, being incapable of concentrating the urine, presents marked polyuria and compensatory polydipsia and is constantly at risk of severe dehydration. The molecular bases of the disease are fully uncovered, as well as the genetic or clinical tests for a prompt diagnosis of the disease in newborns. A real cure for nephrogenic diabetes insipidus (NDI) is still missing, and the main symptoms of the disease are handled with s continuous supply of water, a restrictive diet, and nonspecific drugs. Unfortunately, the current therapeutic options are limited and only partially beneficial. Further investigation in vitro or using the available animal models of the disease, combined with clinical trials, will eventually lead to the identification of one or more targeted strategies that will improve or replace the current conventional therapy and grant NDI patients a better quality of life. Here we provide an updated overview of the genetic defects causing NDI, the most recent strategies under investigation for rescuing the activity of mutated AVPR2 or AQP2, or for bypassing defective AVPR2 signaling and restoring AQP2 plasma membrane expression. PMID:29125546

  6. Diabetes insipidus in infants and children.

    Science.gov (United States)

    Dabrowski, Elizabeth; Kadakia, Rachel; Zimmerman, Donald

    2016-03-01

    Diabetes insipidus, the inability to concentrate urine resulting in polyuria and polydipsia, can have different manifestations and management considerations in infants and children compared to adults. Central diabetes insipidus, secondary to lack of vasopressin production, is more common in children than is nephrogenic diabetes insipidus, the inability to respond appropriately to vasopressin. The goal of treatment in both forms of diabetes insipidus is to decrease urine output and thirst while allowing for appropriate fluid balance, normonatremia and ensuring an acceptable quality of life for each patient. An infant's obligate need to consume calories as liquid and the need for readjustment of medication dosing in growing children both present unique challenges for diabetes insipidus management in the pediatric population. Treatment modalities typically include vasopressin or thiazide diuretics. Special consideration must be given when managing diabetes insipidus in the adipsic patient, post-surgical patient, and in those undergoing chemotherapy or receiving medications that alter free water clearance. Copyright © 2016 Elsevier Ltd. All rights reserved.

  7. Novel mutations associated with nephrogenic diabetes insipidus. A clinical-genetic study.

    Science.gov (United States)

    García Castaño, Alejandro; Pérez de Nanclares, Gustavo; Madariaga, Leire; Aguirre, Mireia; Chocron, Sara; Madrid, Alvaro; Lafita Tejedor, Francisco Javier; Gil Campos, Mercedes; Sánchez Del Pozo, Jaime; Ruiz Cano, Rafael; Espino, Mar; Gomez Vida, Jose Maria; Santos, Fernando; García Nieto, Victor Manuel; Loza, Reyner; Rodríguez, Luis Miguel; Hidalgo Barquero, Emilia; Printza, Nikoleta; Camacho, Juan Antonio; Castaño, Luis; Ariceta, Gema

    2015-10-01

    Molecular diagnosis is a useful diagnostic tool in primary nephrogenic diabetes insipidus (NDI), an inherited disease characterized by renal inability to concentrate urine. The AVPR2 and AQP2 genes were screened for mutations in a cohort of 25 patients with clinical diagnosis of NDI. Patients presented with dehydration, polyuria-polydipsia, failure to thrive (mean ± SD; Z-height -1.9 ± 2.1 and Z-weight -2.4 ± 1.7), severe hypernatremia (mean ± SD; Na 150 ± 10 mEq/L), increased plasma osmolality (mean ± SD; 311 ± 18 mOsm/Kg), but normal glomerular filtration rate. Genetic diagnosis revealed that 24 male patients were hemizygous for 17 different putative disease-causing mutations in the AVPR2 gene (each one in a different family). Of those, nine had not been previously reported, and eight were recurrent. Moreover, we found those same AVPR2 changes in 12 relatives who were heterozygous carriers. Further, in one female patient, AVPR2 gene study turned out to be negative and she was found to be homozygous for the novel AQP2 p.Ala86Val alteration. Genetic analysis presumably confirmed the diagnosis of nephrogenic diabetes insipidus in every patient of the studied cohort. We emphasize that we detected a high presence (50 %) of heterozygous females with clinical NDI symptoms. • In most cases (90 %), inherited nephrogenic diabetes insipidus (NDI) is an X-linked disease, caused by mutations in the AVPR2 gene. • In rare occasions (10 %), it is caused by mutations in the AQP2 gene. What is new: • In this study, we report 10 novel mutations associated with NDI. • We have detected a high presence (50 %) of heterozygous carriers with clinical NDI symptoms.

  8. MR evaluation of diabetes insipidus

    International Nuclear Information System (INIS)

    Tien, R.D.; Newton, T.H.; Kucharczyk, J.

    1989-01-01

    The authors have used MR imaging to evaluate the hypothalamic/pituitary region in 21 patients with central diabetes insipidus. Diagnoses included histiocytosis-X, germ cell tumors trauma, metastases, tuberculosis, pituitary abscess, and Erdheim-Chester disease. Gd-DTPA was administered in eight patients. Seventeen of 21 patients had a pituitary infundibular stalk that was thicker than that of normal subjects, but the signal intensity of the abnormal stalk was normal. The pituitary stalk was uniformly thickened in the histiocytosis-X and tuberculosis patients. Asymmetric thickening was seen in the patients with germ cell tumors, metastases, and Erdheim-Chester disease. Pituitary stalk was disrupted in the posterior pituitary lobe was absent in all patients

  9. Intracranical calcification in siblings with nephrogenic diabetes insipidus: CT and MRI

    International Nuclear Information System (INIS)

    Tohyama, J.; Inagaki, M.; Koeda, T.; Ohno, K.; Takeshita, K.

    1993-01-01

    Computed tomography and magnetic resonance imaging (MRI) were used to examine three male siblings with nephrogenic diabetes insipidus (NDI). The two elder brothers had varying degrees of unusual intracranial calcification; the eldest also showed involvement of the cerebral white matter on MRI. The severity of intracranial calcification was related to the time before initiation of treatment and inversely to mental ability. Brain damage and mental retardation in NDI may be caused by a delay in initiating treatment; early detection and treatment are important to prevent brain damage. (orig.)

  10. Idiopathic Fanconi's syndrome with nephrogenic diabetes insipidus in a child who presented as vitamin D resistant rickets--a case report and review of literature.

    Science.gov (United States)

    Patra, Soumya; Nadri, Gulnaz; Chowdhary, Harish; Pemde, Harish K; Singh, Varinder; Chandra, Jagdish

    2011-01-01

    Fanconi's syndrome is a complex of multiple tubular dysfunctions of proximal tubular cells occurring alone or in association with a variety of inherited (primary) or acquired (secondary) disorders. It is characterized by aminoaciduria, normoglycemic glycosuria, tubular proteinuria without hematuria, metabolic acidosis without anion gap and excessive urinary excretion of phosphorous, calcium, uric acid, bicarbonate, sodium, potassium and magnesium. Diabetes insipidus is a disease of collecting tubules and a child mainly presents with dehydration and hypernatremia. We report the first case of idiopathic Fanconi's syndrome along with nephrogenic diabetes insipidus (NDI) in a child who presented to us as resistant rickets. Medline search did not reveal any case of nephrogenic diabetes insipidus associated with idiopathic Fanconi's syndrome. We hypothesized that the NDI may be due to severe hypokalemia induced tubular dysfunction. The child was treated for hypophosphatemic rickets with severe metabolic acidosis and the treatment for NDI was also given. Now he has healed rickets and normal blood pH, sodium and osmolarity.

  11. Diagnosis and treatment of central diabetes insipidus

    Directory of Open Access Journals (Sweden)

    Ekaterina Aleksandrovna Pigarova

    2014-11-01

    Full Text Available Diabetes insipidus represents a serious disease that dramatically interferes with the everyday life of patients due to the need to constantly replenish of fluid lost in the urine, which comes amid shortage of synthesis, secretion or action of pituitary hormone vasopressin. The main difficulty is the differential diagnosis of types of diabetes insipidus in patients with the syndrome of polydipsia-polyuria as the correct differential diagnosis of these forms predetermine the safety and efficacy of further treatment. This lecture presents the current concepts of etiology, diagnosis and treatment of central diabetes insipidus (CDI. We give the comparative characteristics of various preparations of desmopressin for the treatment of the central form of the disease. We also consider the features of the management of selected patient populations with CDI: during pregnancy and lactation, pathology of the thirst sensation, after traumatic brain injury and neurosurgery.

  12. Adipsia in a Diabetes Insipidus Patient

    Directory of Open Access Journals (Sweden)

    Maria Conceição Pereira

    2015-09-01

    Full Text Available Central diabetes insipidus is a very common disorder after brain surgery or/trauma or even in the presence of brain inflammatory diseases. Polyuria and polydipsia are the clinical markers, but sometimes clinical situations are presenting with no thirst. These are not frequent but are life-treating conditions. Diagnosis is not easy, and for this reason some cases are treated late. We describe here a very infrequent oncological case of dangerous adipsic diabetes insipidus in a young girl who survived.

  13. Nephrogenic Diabetes Insipidus: Essential Insights into the Molecular Background and Potential Therapies for Treatment

    Science.gov (United States)

    Rittig, Søren

    2013-01-01

    The water channel aquaporin-2 (AQP2), expressed in the kidney collecting ducts, plays a pivotal role in maintaining body water balance. The channel is regulated by the peptide hormone arginine vasopressin (AVP), which exerts its effects through the type 2 vasopressin receptor (AVPR2). Disrupted function or regulation of AQP2 or the AVPR2 results in nephrogenic diabetes insipidus (NDI), a common clinical condition of renal origin characterized by polydipsia and polyuria. Over several years, major research efforts have advanced our understanding of NDI at the genetic, cellular, molecular, and biological levels. NDI is commonly characterized as hereditary (congenital) NDI, arising from genetic mutations in the AVPR2 or AQP2; or acquired NDI, due to for exmple medical treatment or electrolyte disturbances. In this article, we provide a comprehensive overview of the genetic, cell biological, and pathophysiological causes of NDI, with emphasis on the congenital forms and the acquired forms arising from lithium and other drug therapies, acute and chronic renal failure, and disturbed levels of calcium and potassium. Additionally, we provide an overview of the exciting new treatment strategies that have been recently proposed for alleviating the symptoms of some forms of the disease and for bypassing G protein-coupled receptor signaling. PMID:23360744

  14. Reproduction in Brattleboro rats with diabetes insipidus

    NARCIS (Netherlands)

    Boer, K.; Boer, G. J.; Swaab, D. F.

    1981-01-01

    The Brattleboro diabetes insipidus mutant is incapable of synthesizing vasopressin, but is activated in its production and release of oxytocin. In the homozygous female mutant, there were abnormally short and long oestrous cycles and reduced conception rates after mating with mutant males, a

  15. Continuous vasopressin replacement in diabetes insipidus.

    OpenAIRE

    Ralston, C; Butt, W

    1990-01-01

    Five children who developed diabetes insipidus as a manifestation of severe brain injury received continuous intravenous treatment with a solution containing both aqueous vasopressin and appropriate crystalloid replacement. Polyuria, hypernatraemia, and decreased urine osmolalities were safely corrected in all patients within eight to 28 hours.

  16. Congenital nephrogenic diabetes insipidus: the current state of affairs.

    Science.gov (United States)

    Wesche, Daniel; Deen, Peter M T; Knoers, Nine V A M

    2012-12-01

    The anti-diuretic hormone arginine vasopressin (AVP) is released from the pituitary upon hypovolemia or hypernatremia, and regulates water reabsorption in the renal collecting duct principal cells. Binding of AVP to the arginine vasopressin receptor type 2 (AVPR2) in the basolateral membrane leads to translocation of aquaporin 2 (AQP2) water channels to the apical membrane of the collecting duct principal cells, inducing water permeability of the membrane. This results in water reabsorption from the pro-urine into the medullary interstitium following an osmotic gradient. Congenital nephrogenic diabetes insipidus (NDI) is a disorder associated with mutations in either the AVPR2 or AQP2 gene, causing the inability of patients to concentrate their pro-urine, which leads to a high risk of dehydration. This review focuses on the current knowledge regarding the cell biological aspects of congenital X-linked, autosomal-recessive and autosomal-dominant NDI while specifically addressing the latest developments in the field. Based on deepened mechanistic understanding, new therapeutic strategies are currently being explored, which we also discuss here.

  17. The clinical pattern of diabetes Insipidus in a large university hospital in the Middle East.

    Science.gov (United States)

    Babiker, Amir M I; Al Jurayyan, Nasir A M; Al Jurayyan, Rushaid N A; Al Gadi, Iman; Drop, Stenvert L S

    2015-04-01

    Diabetes insipidus is a rare but serious endocrine disorder. Paediatric patients were evaluated for polyuria at King Khalid University Hospital, Riyadh, Saudi Arabia, over a decade (2000-13). Relevant clinical examination and/or a triad of high serum osmolality, hypernatremia and low urine osmolality due to increased urine output confirmed the diagnosis. Water deprivation test was required in some cases with non-classic presentations. Appropriate brain imaging was performed whenever central diabetes insipidus (CDI) was suspected. Twenty-eight patients, 15 males (53.6%) and 13 females (46.4%), aged 0-17 years (mean: 6 years) were included. The calculated period prevalence was 7 in 10,000. In our cohort, 60.7% (17 of 28 patients) had CDI, 21.4% (6 of 28) were diagnosed with nephrogenic diabetes insipidus (NDI) and 17.9% (5 of 30) had psychogenic polydipsia. CDI was due to variable aetiology. Though CDI was the commonest, NDI was not a rare encounter in our community, possibly because of high consanguineous marriages. © The Author [2015]. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  18. Transient diabetes insipidus in pregnancy

    Science.gov (United States)

    Gunawardana, Kavinga; Grossman, Ashley

    2015-01-01

    Summary Gestational diabetes insipidus (DI) is a rare complication of pregnancy, usually developing in the third trimester and remitting spontaneously 4–6 weeks post-partum. It is mainly caused by excessive vasopressinase activity, an enzyme expressed by placental trophoblasts which metabolises arginine vasopressin (AVP). Its diagnosis is challenging, and the treatment requires desmopressin. A 38-year-old Chinese woman was referred in the 37th week of her first single-gestation due to polyuria, nocturia and polydipsia. She was known to have gestational diabetes mellitus diagnosed in the second trimester, well-controlled with diet. Her medical history was unremarkable. Physical examination demonstrated decreased skin turgor; her blood pressure was 102/63 mmHg, heart rate 78 beats/min and weight 53 kg (BMI 22.6 kg/m2). Laboratory data revealed low urine osmolality 89 mOsmol/kg (350–1000), serum osmolality 293 mOsmol/kg (278–295), serum sodium 144 mmol/l (135–145), potassium 4.1 mmol/l (3.5–5.0), urea 2.2 mmol/l (2.5–6.7), glucose 3.5 mmol/l and HbA1c 5.3%. Bilirubin, alanine transaminase, alkaline phosphatase and full blood count were normal. The patient was started on desmopressin with improvement in her symptoms, and normalisation of serum and urine osmolality (280 and 310 mOsmol/kg respectively). A fetus was delivered at the 39th week without major problems. After delivery, desmopressin was stopped and she had no further evidence of polyuria, polydipsia or nocturia. Her sodium, serum/urine osmolality at 12-weeks post-partum were normal. A pituitary magnetic resonance imaging (MRI) revealed the neurohypophyseal T1-bright spot situated ectopically, with a normal adenohypophysis and infundibulum. She remains clinically well, currently breastfeeding, and off all medication. This case illustrates some challenges in the diagnosis and management of transient gestational DI. Learning points Gestational DI is a rare complication of

  19. Transient diabetes insipidus in pregnancy.

    Science.gov (United States)

    Marques, Pedro; Gunawardana, Kavinga; Grossman, Ashley

    2015-01-01

    Gestational diabetes insipidus (DI) is a rare complication of pregnancy, usually developing in the third trimester and remitting spontaneously 4-6 weeks post-partum. It is mainly caused by excessive vasopressinase activity, an enzyme expressed by placental trophoblasts which metabolises arginine vasopressin (AVP). Its diagnosis is challenging, and the treatment requires desmopressin. A 38-year-old Chinese woman was referred in the 37th week of her first single-gestation due to polyuria, nocturia and polydipsia. She was known to have gestational diabetes mellitus diagnosed in the second trimester, well-controlled with diet. Her medical history was unremarkable. Physical examination demonstrated decreased skin turgor; her blood pressure was 102/63 mmHg, heart rate 78 beats/min and weight 53 kg (BMI 22.6 kg/m(2)). Laboratory data revealed low urine osmolality 89 mOsmol/kg (350-1000), serum osmolality 293 mOsmol/kg (278-295), serum sodium 144 mmol/l (135-145), potassium 4.1 mmol/l (3.5-5.0), urea 2.2 mmol/l (2.5-6.7), glucose 3.5 mmol/l and HbA1c 5.3%. Bilirubin, alanine transaminase, alkaline phosphatase and full blood count were normal. The patient was started on desmopressin with improvement in her symptoms, and normalisation of serum and urine osmolality (280 and 310 mOsmol/kg respectively). A fetus was delivered at the 39th week without major problems. After delivery, desmopressin was stopped and she had no further evidence of polyuria, polydipsia or nocturia. Her sodium, serum/urine osmolality at 12-weeks post-partum were normal. A pituitary magnetic resonance imaging (MRI) revealed the neurohypophyseal T1-bright spot situated ectopically, with a normal adenohypophysis and infundibulum. She remains clinically well, currently breastfeeding, and off all medication. This case illustrates some challenges in the diagnosis and management of transient gestational DI. Gestational DI is a rare complication of pregnancy occurring in two to four out of

  20. Repulsion between Lys258 and upstream arginines explains the missorting of the AQP2 mutant p.Glu258Lys in nephrogenic diabetes insipidus.

    NARCIS (Netherlands)

    Kamsteeg, E.J.; Stoffels, M.; Tamma, G.; Siemerink-Konings, I.B.M.; Deen, P.M.T.

    2009-01-01

    Regulation of body water homeostasis occurs by the vasopressin-dependent sorting of aquaporin-2 (AQP2) water channels to and from the apical membrane of renal principal cells. Mutations in AQP2 cause autosomal nephrogenic diabetes insipidus (NDI), a disease that renders the kidney unresponsive to

  1. A case report of nephrogenic diabetes insipidus with idiopathic Fanconi syndrome in a child who presented with vitamin D resistant rickets.

    Science.gov (United States)

    Patra, Soumya; Nadri, Gulnaz; Chowdhary, Harish; Pemde, Harish K; Singh, Varinder; Chandra, Jagdish

    2014-05-01

    Fanconi syndrome is a complex of multiple tubular dysfunctions of proximal tubular cells, occurring alone or in association with a variety of inherited (primary) or acquired (secondary) disorders. It is characterized by aminoaciduria, normoglycemic glycosuria, tubular proteinuria without hematuria, metabolic acidosis without anion gap and excessive urinary excretion of phosphorous, calcium, uric acid, bicarbonate, sodium, potassium and magnesium. Diabetes insipidus is a disease of collecting tubules and children mainly present with dehydration and hypernatremia. We are reporting the first case of idiopathic Fanconi's syndrome along with nephrogenic diabetes insipidus in a child who presented to us with vitamin D resistant rickets. Medline search did not reveal any case of nephrogenic diabetes insipidus (NDI) associated with idiopathic Fanconi syndrome. We hypothesized that the NDI may be due to to severe hypokalemia induced tubular dysfunction.

  2. Nephrogenic diabetes insipidus with idiopathic Fanconi's syndrome in a child who presented as vitamin D resistant rickets.

    Science.gov (United States)

    Patra, Soumya; Nadri, Gulnaz; Chowdhary, Harish; Pemde, Harish K; Singh, Varinder; Chandra, Jagdish

    2011-10-01

    Fanconi's syndrome is a complex of multiple tubular dysfunctions of proximal tubular cells occurring alone or in association with a variety of inherited (primary) or acquired (secondary) disorders. It is characterized by aminoaciduria, normoglycaemic glycosuria, tubular proteinuria without hematuria, metabolic acidosis without anion gap and excessive urinary excretion of phosphorous, calcium, uric acid, bicarbonate, sodium, potassium, and magnesium. Whereas diabetes insipidus is a disease of collecting tubules and child mainly presents with dehydration and hypernatremia. Though all the cases published till date were secondary to drugs, myeloma, hematological disorders, etc., we are reporting the first case of idiopathic Fanconi's syndrome along with nephrogenic diabetes insipidus in a child who presented to us as resistant rickets. Medline search did not reveal any case of nephrogenic diabetes insipidus associated with idiopathic Fanconi syndrome. We hypothesized that the NDI may be due to of severe hypokalemia induced tubular dysfunction.

  3. Effect of embelin on lithium-induced nephrogenic diabetes insipidus in albino rats

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    Ashish K Sahu

    2012-10-01

    Full Text Available Objective: To evaluate the nephroprotective and anti-polyuric role of embelin on lithium induced nephrogenic diabetes insipidus (NDI in albino rats. Methods: NDI induced by lithium chloride (4 meq/kg/day, i.p. for 6 days which leads to huge amount of urine excretion. After induction of NDI, embelin (50 and 100mg/kg was administered orally, once daily for 21 day in rats and N-acetyl cysteine (10mg/kg, twice daily, i.p. was used as a standard drug for treatment of NDI. The body weight, urine protein, urine creatinine, plasma creatinine, blood urea nitrogen were assessed at 0, 7, 14 and 21 day. At the end of the study glutathione (GSH content in kidney was assessed and histopathology of kidney was performed. Results: Embelin 50 and 100 mg/ kg showed increase in the body weight and decrease in plasma and urine creatinine, blood urea nitrogen levels, and urine protein level. Embelin acts as a potent antioxidant; it increases the level of glutathione in kidney. Histopathological examination of the kidney indicated that embelin 50 and 100 mg/kg were reduced the vascular degeneration of tubules as well as slight degeneration and dilatation of renal tubules, however N-actyl cysteine (NAC treated rats showed normal glomeruli and renal tubule with slight degeneration. Conclusions: Embelin seemed to be effective in NDI by its predominant effect on promoting antioxidant status and decrease the urine excretion may be due to the blocking of sodium channels.

  4. [Germinoma responsible for central diabetes insipidus].

    Science.gov (United States)

    Bakoto, N; Strivay, M

    2009-01-01

    We report the case of a 20-year-old woman who presented with sudden onset of polydipsia and polyuria. A diagnosis of diabetes insipidus was confirmed and the MRI showed a pituitary stalk enlargement. The patient was treated with Minirin. Two years later, she developed a panhypopituitarism. The MRI showed an intrasellar mass with an enlargement of the pituitary gland. A biopsy confirmed a germinoma. The patient was treated with radiotherapy with a partial response as only a part of the mass disappeared. This case highlights the importance of the clinical and radiological follow-up of central diabetes insipidus, especially when it is of unknown origin. The differential diagnosis will be reviewed.

  5. [Granulomatosis with polyangiitis manifested as diabetes insipidus].

    Science.gov (United States)

    Pátek, Ondřej; Horáčková, Miroslava; Vítová, Lenka; Horváth, Rudolf; Háček, Jaromír; Schück, Otto

    The case report shows a surprising presentation of pulmonary granulomatosis with polyangiitis (GPA) through symptoms of diabetes insipidus (DI) with granulomatous infiltration of the pituitary gland. The pituitary hormonal dysfunction as a result of granulomatosis of the pituitary gland is rare. Several studies have demonstrated that the incidence of the pituitary dysfunction reaches approx. 1 % of the patients with GPA. However it is mostly presented in patients with the disease already diagnosed. The patient described by us had no clinical expressions of GPA in the respiratory tract. He presented with polyuria and polydipsia. It was not until a more detailed examination of these symptoms was performed that a focal lung disease was detected and diagnosed as GPA. diabetes insipidus - granulomatosis with polyangiitis - granulomatous infiltration of the pituitary gland - pituitary hormonal dysfunction.

  6. Brain Abscess Presenting as Postpartum Diabetes Insipidus

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    Silvia So-Haei Liu

    2004-03-01

    Conclusion: The diagnosis of brain abscess in this patient was masked by postpartum diabetes insipidus, which is an unusual manifestation. Symptoms and signs of brain abscess are nonspecific in the early stage and missed diagnosis is not uncommon. In conclusion, we reaffirm the importance of remarking on any past relevant information, and one should always be aware of any unresolved symptoms even though they may be nonspecific.

  7. Rapid differential diagnosis of diabetes insipidus in a 7-month-old infant: The copeptin approach.

    Science.gov (United States)

    Vergier, J; Fromonot, J; Alvares De Azevedo Macedo, A; Godefroy, A; Marquant, E; Guieu, R; Tsimaratos, M; Reynaud, R

    2018-01-01

    Diabetes insipidus is characterized by hypoosmotic polyuria related to deficiency of arginine-vasopressin (AVP) secretion (central diabetes insipidus, CDI) or renal insensitivity to AVP (nephrogenic diabetes insipidus, NDI). The water deprivation test with assessment of AVP activity is currently the gold standard for differential diagnosis in patients presenting polyuria-polydipsia syndrome. Nevertheless, it can be dangerous without proper surveillance and its interpretation may be challenging. Other markers have been suggested. Direct quantification of circulating AVP is not sufficient for diagnosis: vasopressin is unstable, analysis is complex. AVP comes from prohormone preprovasopressin with concomitant release of copeptin (C-terminal moiety) in the equimolar ratio. Copeptin is stable in vitro, with easy and rapid measurement (polyuria in adults, but its value has not been demonstrated in infants yet. A 7-month-old infant presented polyuria-polydipsia syndrome with poor weight gain. Laboratory tests pointed out hypernatremia (170mmol/L) and blood hyperosmolarity (330mOsm/L) with inappropriate urinary hypoosmolarity (168mOsm/L). Plasmatic copeptin measurement was found at a very high level, 303pmol/L (1-14pmol/L). DdAVP administration did not improve the polyuria, confirming the final diagnosis of NDI. Hyperhydration with a hypoosmolar diet normalized the hydration status and circulating levels of copeptin within 1 week. Copeptin, a stable peptide reflecting AVP secretion, could be a safer and faster biomarker for etiological diagnosis of polyuria-polydipsia syndrome in children. Before regularization of hydration status, a single baseline measurement may be enough to discriminate NDI from other etiologies without the water deprivation test. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

  8. Combination of secretin and fluvastatin ameliorates the polyuria associated with X-linked nephrogenic diabetes insipidus in mice.

    Science.gov (United States)

    Procino, Giuseppe; Milano, Serena; Carmosino, Monica; Barbieri, Claudia; Nicoletti, Maria C; Li, Jian H; Wess, Jürgen; Svelto, Maria

    2014-07-01

    X-linked nephrogenic diabetes insipidus (X-NDI) is a disease caused by inactivating mutations of the vasopressin (AVP) type 2 receptor (V2R) gene. Loss of V2R function prevents plasma membrane expression of the AQP2 water channel in the kidney collecting duct cells and impairs the kidney concentration ability. In an attempt to develop strategies to bypass V2R signaling in X-NDI, we evaluated the effects of secretin and fluvastatin, either alone or in combination, on kidney function in a mouse model of X-NDI. The secretin receptor was found to be functionally expressed in the kidney collecting duct cells. Based on this, X-NDI mice were infused with secretin for 14 days but urinary parameters were not altered by the infusion. Interestingly, secretin significantly increased AQP2 levels in the collecting duct but the protein primarily accumulated in the cytosol. Since we previously reported that fluvastatin treatment increased AQP2 plasma membrane expression in wild-type mice, secretin-infused X-NDI mice received a single injection of fluvastatin. Interestingly, urine production by X-NDI mice treated with secretin plus fluvastatin was reduced by nearly 90% and the urine osmolality was doubled. Immunostaining showed that secretin increased intracellular stores of AQP2 and the addition of fluvastatin promoted AQP2 trafficking to the plasma membrane. Taken together, these findings open new perspectives for the pharmacological treatment of X-NDI.

  9. Transient Central Diabetes Insipidus and Marked Hypernatremia following Cardiorespiratory Arrest

    Directory of Open Access Journals (Sweden)

    Sahar H. Koubar

    2017-01-01

    Full Text Available Central Diabetes Insipidus is often an overlooked complication of cardiopulmonary arrest and anoxic brain injury. We report a case of transient Central Diabetes Insipidus (CDI following cardiopulmonary arrest. It developed 4 days after the arrest resulting in polyuria and marked hypernatremia of 199 mM. The latter was exacerbated by replacing the hypotonic urine by isotonic saline.

  10. Familial forms of diabetes insipidus: clinical and molecular characteristics.

    Science.gov (United States)

    Babey, Muriel; Kopp, Peter; Robertson, Gary L

    2011-07-05

    Over the past two decades, the genetic and molecular basis of familial forms of diabetes insipidus has been elucidated. Diabetes insipidus is a clinical syndrome characterized by the excretion of abnormally large volumes of diluted urine (polyuria) and increased fluid intake (polydipsia). The most common type of diabetes insipidus is caused by lack of the antidiuretic hormone arginine vasopressin (vasopressin), which is produced in the hypothalamus and secreted by the neurohypophysis. This type of diabetes insipidus is referred to here as neurohypophyseal diabetes insipidus. The syndrome can also result from resistance to the antidiuretic effects of vasopressin on the kidney, either at the level of the vasopressin 2 receptor or the aquaporin 2 water channel (which mediates the re-absorption of water from urine), and is referred to as renal or nephrogenic diabetes insipidus. Differentiation between these two types of diabetes insipidus and primary polydipsia can be difficult owing to the existence of partial as well as complete forms of vasopressin deficiency or resistance. Seven different familial forms of diabetes insipidus are known to exist. The clinical presentation, genetic basis and cellular mechanisms responsible for them vary considerably. This information has led to improved methods of differential diagnosis and could provide the basis of new forms of therapy.

  11. Gestational diabetes insipidus: a review of an underdiagnosed condition.

    Science.gov (United States)

    Aleksandrov, Nikolay; Audibert, François; Bedard, Marie-Josée; Mahone, Michèle; Goffinet, François; Kadoch, Isaac-Jacques

    2010-03-01

    To review the etiology, diagnosis, and management of diabetes insipidus during pregnancy. A search of the literature was performed in PubMed using key word searching and citation snowballing to identify articles published in English between January 1, 1980, and December 31, 2008, on the subject of diabetes insipidus during pregnancy. Once the articles were identified, a thorough review of all results was conducted. Results and conclusions were compiled and summarized. We reviewed 50 studies selected using the following key words: diabetes insipidus, pregnancy, arginine vasopressin, vasopressinase. Gestational diabetes insipidus is underdiagnosed because polyuria is often considered normal during pregnancy. Clinicians caring for pregnant women should consider screening for gestational diabetes insipidus, because it could be associated with serious underlying pathology.

  12. Diabetes insipidus in pregnancy: how to advice the patient?

    Science.gov (United States)

    Refardt, Julie; Christ-Crain, Mirjam

    2018-02-19

    Diabetes insipidus, characterized by polyuria and polydipsia, is a rare disease during pregnancy. Nevertheless, its recognition is important to avoid complications due to dehydration and hypernatremia. Its manifestation during pregnancy ranges from exacerbation of pre-existing central or nephrogenic diabetes insipidus to transient pregnancy-induced diabetes insipidus due to the increased metabolism of the antidiuretic hormone vasopressin by the placental vasopressinase. Diagnosis can be challenging, as urinary frequency is common during pregnancy and primary polydipsia also needs to be excluded. Also the standard water deprivation test is not recommended during pregnancy due to the increased risk of complications. Treatment depends upon the final diagnosis, with desmopressin (DDAVP) being the medication of choice in AVP-deficient diabetes insipidus, whereas nephrogenic diabetes insipidus requires treatment of the underlying disease and supportive measures.

  13. V2R structure and diabetes insipidus.

    Science.gov (United States)

    Birnbaumer, Mariel

    2002-01-01

    For most audiences, the term "diabetes" conjures thoughts of high levels of blood glucose and of the symptoms that characterize diabetes mellitus. In the last few years, a spirited campaign spear-headed by the families of affected individuals has made progress in educating nonprofessional and medical communities about diabetes insipidus (DI), the other disease characterized by polyuria (i.e., diabetes). Much work lies ahead to find better treatments for this affliction, but the progress in molecular biology over the last years made possible the identification of the genetic defects underlying the inherited forms of the disease. Numerous cases of adult-onset DI are triggered by toxic damage to the kidneys that impairs the concentrating capacity of the nephrons by a nonspecific mechanism. In these pages I shall deal mostly with the inherited forms of the disease. Diabetes insipidus is characterized by the inability of the kidneys of affected individuals to produce concentrated urine (Morello and Bichet 2001). The elimination of large volumes of diluted urine (polyuria) and excessive thirst (polydipsia) are the chief symptoms of the disease. Although this condition and the hints that it was a hereditary disease were described at the end of the 19th century, it took almost 100 years to gain molecular knowledge about its etiology. A brief review of the important role played by vasopressin in the maintenance of body fluids will help the reader understand the severity of this disease.

  14. Lithium-induced NDI: acetazolamide reduces polyuria but does not improve urine concentrating ability

    NARCIS (Netherlands)

    Groot, T. de; Doornebal, J.; Christensen, B.M.; Cockx, S.; Sinke, A.P.; Baumgarten, R.; Bedford, J.J.; Walker, R.J.; Wetzels, J.F.M.; Deen, P.M.T.

    2017-01-01

    Lithium is the mainstay treatment for patients with bipolar disorder, but it generally causes nephrogenic diabetes insipidus (NDI), a disorder in which the renal urine concentrating ability has become vasopressin insensitive. Li-NDI is caused by lithium uptake by collecting duct principal cells and

  15. Water homeostasis and diabetes insipidus in horses.

    Science.gov (United States)

    Schott, Harold C

    2011-04-01

    Diabetes insipidus (DI) is a rare disorder of horses characterized by profound polyuria and polydipsia (PU/PD), which can be caused by loss of production of arginine vasopressin (AVP). This condition is termed neurogenic or central DI. DI may also develop with absence or loss of AVP receptors or activity on the basolateral membrane of collecting-duct epithelial cells. This condition is termed nephrogenic DI. Equine clinicians may differentiate true DI from more common causes of PU/PD by a systematic diagnostic approach. DI may not be a correctable disorder, and supportive care of affected horses requires an adequate water source. Copyright © 2011 Elsevier Inc. All rights reserved.

  16. Genetic forms of neurohypophyseal diabetes insipidus.

    Science.gov (United States)

    Rutishauser, Jonas; Spiess, Martin; Kopp, Peter

    2016-03-01

    Neurohypophyseal diabetes insipidus is characterized by polyuria and polydipsia owing to partial or complete deficiency of the antidiuretic hormone, arginine vasopressin (AVP). Although in most patients non-hereditary causes underlie the disorder, genetic forms have long been recognized and studied both in vivo and in vitro. In most affected families, the disease is transmitted in an autosomal dominant manner, whereas autosomal recessive forms are much less frequent. Both phenotypes can be caused by mutations in the vasopressin-neurophysin II (AVP) gene. In transfected cells expressing dominant mutations, the mutated hormone precursor is retained in the endoplasmic reticulum, where it forms fibrillar aggregates. Autopsy studies in humans and a murine knock-in model suggest that the dominant phenotype results from toxicity to vasopressinergic neurons, but the mechanisms leading to cell death remain unclear. Recessive transmission results from AVP with reduced biologic activity or the deletion of the locus. Genetic neurohypophyseal diabetes insipidus occurring in the context of diabetes mellitus, optic atrophy, and deafness is termed DIDMOAD or Wolfram syndrome, a genetically and phenotypically heterogeneous autosomal recessive disorder caused by mutations in the wolframin (WFS 1) gene. Copyright © 2016 Elsevier Ltd. All rights reserved.

  17. Central diabetes insipidus: a previously unreported side effect of temozolomide.

    Science.gov (United States)

    Faje, Alexander T; Nachtigall, Lisa; Wexler, Deborah; Miller, Karen K; Klibanski, Anne; Makimura, Hideo

    2013-10-01

    Temozolomide (TMZ) is an alkylating agent primarily used to treat tumors of the central nervous system. We describe 2 patients with apparent TMZ-induced central diabetes insipidus. Using our institution's Research Patient Database Registry, we identified 3 additional potential cases of TMZ-induced diabetes insipidus among a group of 1545 patients treated with TMZ. A 53-year-old male with an oligoastrocytoma and a 38-year-old male with an oligodendroglioma each developed symptoms of polydipsia and polyuria approximately 2 months after the initiation of TMZ. Laboratory analyses demonstrated hypernatremia and urinary concentrating defects, consistent with the presence of diabetes insipidus, and the patients were successfully treated with desmopressin acetate. Desmopressin acetate was withdrawn after the discontinuation of TMZ, and diabetes insipidus did not recur. Magnetic resonance imaging of the pituitary and hypothalamus was unremarkable apart from the absence of a posterior pituitary bright spot in both of the cases. Anterior pituitary function tests were normal in both cases. Using the Research Patient Database Registry database, we identified the 2 index cases and 3 additional potential cases of diabetes insipidus for an estimated prevalence of 0.3% (5 cases of diabetes insipidus per 1545 patients prescribed TMZ). Central diabetes insipidus is a rare but reversible side effect of treatment with TMZ.

  18. X-Linked Recessive Form of Nephrogenic Diabetes Insipidus in A 7-Year-Old Boy

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    Janchevska A.

    2014-12-01

    Full Text Available Nephrogenic diabetes insipidus (NDI is caused by the inability of renal collecting duct cells to respond to arginine vasopressin (AVP/antidiuretic hormone (ADH. We present the case of a 7-year-old boy with a history of excretion of large amounts of dilute urine and polydipsia since infancy. The boy had several vomiting episodes with mild dehydration during the first 3 years of life. There was no evidence of headaches, dizziness or visual problems. He drinks between 2 and 3 L/day and has 24-hour diuresis of 2 liters, now. He has prepubertal appearance with appropriate weight [+0.85 standard deviation score (SDS] and height (+0.15 SDS for his age. His intelligence was also normal. The water deprivation test showed low urine osmolality after 8 hours of dehydration. After desmopressin administration, urine osmolality remained low. Serum osmolality was in the normal range for sex and age before and after desmopressin administration. This indicated a nephrogenic form of diabetes insipidus. Molecular analyses revealed a P286L [p.Pro(CCC286Leu(CTC] mutation in the AVPR2 gene, that was inherited from his mother. This patient is the first case with genetically confirmed X-linked inherited form of NDI in the Republic of Macedonia. Molecular analysis confirmed the clinical diagnosis and enabled genetic advice for this family.

  19. Gestational diabetes insipidus: a morphological study of the placenta.

    Science.gov (United States)

    Castiglione, F; Buccoliero, A M; Garbini, F; Gheri, C F; Moncini, D; Poggi, G; Saladino, V; Rossi Degl'Innocenti, D; Gheri, R G; Taddei, G L

    2009-12-01

    Gestational diabetes insipidus (GDI) refers to the state of excessive water intake and hypotonic polyuria. Those cases manifesting in pregnancy and referred to as GDI may persist thereafter or may be a transient latent form that resolves after delivery. Microscopic examination of affected subjects has not been previously reported. In the literature, there are various case reports and case series on diabetes insipidus in pregnancy. In this study, we present a case that had transient diabetes insipidus during pregnancy in which the placenta was examined.

  20. Nephrogenic diabetes insipidus in a patient with L1 syndrome: a new report of a contiguous gene deletion syndrome including L1CAM and AVPR2.

    Science.gov (United States)

    Knops, Noël B B; Bos, Krista K; Kerstjens, Mieke; van Dael, Karin; Vos, Yvonne J

    2008-07-15

    We report on an infant boy with congenital hydrocephalus due to L1 syndrome and polyuria due to diabetes insipidus. We initially believed his excessive urine loss was from central diabetes insipidus and that the cerebral malformation caused a secondary insufficient pituitary vasopressin release. However, he failed to respond to treatment with a vasopressin analogue, which pointed to nephrogenic diabetes insipidus (NDI). L1 syndrome and X-linked NDI are distinct clinical disorders caused by mutations in the L1CAM and AVPR2 genes, respectively, located in adjacent positions in Xq28. In this boy we found a deletion of 61,577 basepairs encompassing the entire L1CAM and AVPR2 genes and extending into intron 7 of the ARHGAP4 gene. To our knowledge this is the first description of a patient with a deletion of these three genes. He is the second patient to be described with L1 syndrome and NDI. During follow-up he manifested complications from the hydrocephalus and NDI including global developmental delay and growth failure with low IGF-1 and hypothyroidism. 2008 Wiley-Liss, Inc.

  1. Adipsic diabetes insipidus in adult patients.

    Science.gov (United States)

    Cuesta, Martín; Hannon, Mark J; Thompson, Christopher J

    2017-06-01

    Adipsic diabetes insipidus (ADI) is a very rare disorder, characterized by hypotonic polyuria due to arginine vasopressin (AVP) deficiency and failure to generate the sensation of thirst in response to hypernatraemia. As the sensation of thirst is the key homeostatic mechanism that prevents hypernatraemic dehydration in patients with untreated diabetes insipidus (DI), adipsia leads to failure to respond to aquaresis with appropriate fluid intake. This predisposes to the development of significant hypernatraemia, which is the typical biochemical manifestation of adipsic DI. A literature search was performed to review the background, etiology, management and associated complications of this rare condition. ADI has been reported to occur in association with clipping of an anterior communicating artery aneurysm following subarachnoid haemorrhage, major hypothalamic surgery, traumatic brain injury and toluene exposure among other conditions. Management is very difficult and patients are prone to marked changes in plasma sodium concentration, in particular to the development of severe hypernatraemia. Associated hypothalamic disorders, such as severe obesity, sleep apnoea and thermoregulatory disorders are often observed in patients with ADI. The management of ADI is challenging and is associated with significant morbidity and mortality. Prognosis is variable; hypothalamic complications lead to early death in some patients, but recent reports highlight the possibility of recovery of thirst.

  2. Metastatic Prostate Adenocarcinoma Presenting Central Diabetes Insipidus

    Directory of Open Access Journals (Sweden)

    Hakkı Yılmaz

    2012-01-01

    Full Text Available The pituitary gland and infundibulum can be involved in a variety of medical conditions, including infiltrative diseases, fungal infections, tuberculosis, and primary and metastatic tumors. Metastases to the pituitary gland are absolutely rare, and they are generally secondary to pulmonary carcinoma in men and breast carcinoma in women. Pituitary metastases more commonly affect the posterior lobe and the infundibulum than the anterior lobe. The posterior lobe involvement may explain why patients with pituitary metastases frequently present with diabetes insipidus. We are presenting a case report of a 78-year-old male patient who had metastatic prostate with sudden onset of polyuria and persistent thirst. He had no electrolyte imbalance except mild hypernatremia. The MRI scan of the brain yielded a suspicious area in pituitary gland. A pituitary stalk metastasis was found on magnetic resonance imaging (MRI of pituitary. Water deprivation test was compatible with DI. A clinical response to nasal vasopressin was achieved and laboratory results revealed central diabetes insipidus. As a result, the intrasellar and suprasellar masses decreased in size, and urinary output accordingly decreased.

  3. [Growth in children with diabetes insipidus].

    Science.gov (United States)

    Morla Báez, E; Dorantes Alvarez, L M; Chavarría Bonequi, C

    1980-01-01

    Commercial preparations of vasopressin for the treatment of diabetes insipidus are not available in Mexico. Besides, the hormone is useless in the nephrogenic variety. In the department of Endocrinology at the Hospital Infantil de Mexico, a preparation containing hydrochlorothiazide, aminopyrine and potassium chloride, which reduces urinary volumes in about two thirds, is employed in all varieties of the disease. Growth in stature was investigated in 44 patients under treatment, attending the Endocrine Outpatient Clinic since 1967 for a period of 2 to 12 years. Clinical material included 29 males and 15 females. There were 23 idiopathic, 7 histiocytosis, 5 nephrogenic, 4 craniopharyngiomas, 2 psychogenic polydipsia, 2 traumatic and 1, as a sequel of tuberculous meningoencephalitis. Six idiopathic, 2 nephrogenic, 2 traumatic, 1 histiocytosis, and 1 psychogenic proceeded between percentiles 3 and 97, parallel to the nearest line of reference along the whole period of study. Two nephrogenic, 2 histiocytosis, 1 psychogenic, 1 post-meningoencephalitis and 14 idiopathic, grew below the third percentile, but parallel to it. One nephrogenic, 4 histiocytosis, 4 craniopharyngioma and 3 idiopathic progressively departed from the initial centile. Two of the latter had growth hormone deficiency, and 1 had been very irregularly treated. It is concluded that the therapy employed limits stature impairment but does not produce catch-up growth. Accordingly, it is proposed that the treatment of diabetes insipidus should be started as early as possible, and that if progress in stature is appreciably deteriorated, the presence of additional pathology should be suspected.

  4. A novel AVPR2 splice site mutation leads to partial X-linked nephrogenic diabetes insipidus in two brothers.

    Science.gov (United States)

    Schernthaner-Reiter, Marie Helene; Adams, David; Trivellin, Giampaolo; Ramnitz, Mary Scott; Raygada, Margarita; Golas, Gretchen; Faucz, Fabio R; Nilsson, Ola; Nella, Aikaterini A; Dileepan, Kavitha; Lodish, Maya; Lee, Paul; Tifft, Cynthia; Markello, Thomas; Gahl, William; Stratakis, Constantine A

    2016-05-01

    X-linked nephrogenic diabetes insipidus (NDI, OMIM#304800) is caused by mutations in the arginine vasopressin (AVP, OMIM*192340) receptor type 2 (AVPR2, OMIM*300538) gene. A 20-month-old boy and his 8-year-old brother presented with polyuria, polydipsia, and failure to thrive. Both boys demonstrated partial DDAVP (1-desamino-8-D AVP or desmopressin) responses; thus, NDI diagnosis was delayed. While routine sequencing of AVPR2 showed a potential splice site variant, it was not until exome sequencing confirmed the AVPR2 splice site variant and did not reveal any more likely candidates that the patients' diagnosis was made and proper treatment was instituted. Both patients were hemizygous for two AVPR2 variants predicted in silico to affect AVPR2 messenger RNA (mRNA) splicing. A minigene assay revealed that the novel AVPR2 c.276A>G mutation creates a novel splice acceptor site leading to 5' truncation of AVPR2 exon 2 in HEK293 human kidney cells. Both patients have been treated with high-dose DDAVP with a remarkable improvement of their symptoms and accelerated linear growth and weight gain. We present here a unique case of partial X-linked NDI due to an AVPR2 splice site mutation; patients with diabetes insipidus of unknown etiology may harbor splice site mutations that are initially underestimated in their pathogenicity on sequence analysis. • X-linked nephrogenic diabetes insipidus is caused by AVPR2 mutations, and disease severity can vary depending on the functional effect of the mutation. What is New: • We demonstrate here that a splice site mutation in AVPR2 leads to partial X-linked NDI in two brothers. • Treatment with high-dose DDAVP led to improvement of polyuria and polydipsia, weight gain, and growth.

  5. Association between central diabetes insipidus and type 2 diabetes mellitus

    Directory of Open Access Journals (Sweden)

    Claudia Palumbo

    2018-04-01

    Full Text Available Central diabetes insipidus is a rare disease of the hypothalamus and neurohypophysis. It is very unusually found in the adult with type 2 diabetes mellitus. It is manifested by a polydipsic polyuric syndrome, which must be distinguished from the poorly controlled type 2 diabetes mellitus. Given the similarity of both entities and the unusual nature of their coexistence, their suspicion is difficult. The case of a 72-year-old male with type 2 diabetes mellitus with poor insulin control (fasting hyperglycemia greater than 180 mg/dl who had a long-standing polyuric syndrome is here presented. Hypernatremia and plasma osmolality elevated together with a low urinary osmolality led to the suspicion of diabetes insipidus, which was subsequently confirmed by the dehydration test and the administration of desmopressin sc. With 61% increase in the calculated urinary osmolarity one hour post desmopressin s.c., diabetes insipidus of central type was diagnosed. Nuclear Magnetic Resonance showed a bright spot with normal neurohypophysis, contributing to the diagnosis of the idiopathic form.

  6. [Association between central diabetes insipidus and type 2 diabetes mellitus].

    Science.gov (United States)

    Palumbo, Claudia; Nicolaci, Nora; La Manna, Andrés A; Branek, Natalia; Pissano, María N

    2018-01-01

    Central diabetes insipidus is a rare disease of the hypothalamus and neurohypophysis. It is very unusually found in the adult with type 2 diabetes mellitus. It is manifested by a polydipsic polyuric syndrome, which must be distinguished from the poorly controlled type 2 diabetes mellitus. Given the similarity of both entities and the unusual nature of their coexistence, their suspicion is difficult. The case of a 72-year-old male with type 2 diabetes mellitus with poor insulin control (fasting hyperglycemia greater than 180 mg/dl) who had a long-standing polyuric syndrome is here presented. Hypernatremia and plasma osmolality elevated together with a low urinary osmolality led to the suspicion of diabetes insipidus, which was subsequently confirmed by the dehydration test and the administration of desmopressin sc. With 61% increase in the calculated urinary osmolarity one hour post desmopressin s.c., diabetes insipidus of central type was diagnosed. Nuclear Magnetic Resonance showed a bright spot with normal neurohypophysis, contributing to the diagnosis of the idiopathic form.

  7. Adipsic diabetes insipidus revealing a bifocal intracranial germinoma.

    Science.gov (United States)

    Kreutz, Julie; Potorac, Iulia; Lutteri, Laurence; Gennigens, Christine; Martin, Didier; Daly, Adrian F; Bonneville, Jean-Francois; Tshibanda, Luaba; Beckers, Albert

    2017-07-01

    Adipsic diabetes insipidus is a rare complication of intracranial tumors in which impaired antidiuretic hormone secretion is associated with the loss of thirst sensation. Here, we present the case of a patient with bifocal intracranial germinoma, diagnosed due to symptoms mainly caused by adipsic diabetes insipidus. This is, to our knowledge, the first case of adipsic diabetes insipidus revealing an intracranial germinoma reported in the literature. We describe the diagnostic procedures and the three-year follow-up of this patient. Management of intracranial germ-cell tumors is made complex by the wide range of histological features. Although germinomas have a generally better prognosis than most nongerminomatous tumors, they can have severe or even life-threatening presentations. Adipsic diabetes insipidus is one such severe presentation and its rarity can make it difficult to recognize and manage. Awareness of this potential entity is therefore important for clinical practice. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

  8. Diabetes Insipidus after normal vaginal delivery: a case report

    Directory of Open Access Journals (Sweden)

    Farideh Keypour

    2014-07-01

    Treatment was continuing, when the symptoms of central diabetes insipidus resolve and urinary concentrating ability was preferred. Maximum urinary osmolality over the next 11 hours was assessed, 730 mosm/kg was considered normal. Conclusion: Close attention to electrolyte and fluid balance is important in the postpartum period. The symptoms of transient vasopressin-resistant diabetes insipidus resolve in few days to a few weeks after vaginal delivery or when hepatic function returns to normal.

  9. [Central diabetes insipidus: diagnosis and management].

    Science.gov (United States)

    Ballan, B Köhler; Hernandez, A; Rodriguez, E Gonzalez; Meyer, P

    2012-11-14

    Central diabetes insipidus (CDI) is caused by deficient secretion of antidiuretic hormone (ADH) due to different conditions that can affect the hypothalamic neurons. It results in an inability to retain normal quantities of free water, which leads to polyuria, including at night, and polydipsia. In adults, it is mostly due to the "idiopathic" form or present after pituitary surgery or a traumatic brain injury. In rare cases, an underlying systemic disease is found. The diagnosis of CDI is based on the water deprivation test. Pituitary MRI and specific clinical and biological work-up are recommended to precise etiology. Treatment of choice is desmopressin, a synthetic analogue of the endogenous ADH hormone. A multidisciplinary team generally provides management and monitoring of CDI.

  10. Characterization of an aquaporin-2 water channel gene mutation causing partial nephrogenic diabetes insipidus in a Mexican family: evidence of increased frequency of the mutation in the town of origin.

    NARCIS (Netherlands)

    Boccalandro, C.; Mattia, F.P. de; Guo, D.C.; Xue, L.; Orlander, P.; King, T.M.; Gupta, P.; Deen, P.M.T.; Lavis, V.R.; Milewicz, D.M.

    2004-01-01

    A Mexican family with partial congenital nephrogenic diabetes insipidus (NDI) that resulted from a mutation in the aquaporin-2 water channel (AQP2) was characterized, and the source of this rare mutation was traced to the family's town of origin in Mexico. Affected individuals with profound polyuria

  11. Adipsic diabetes insipidus in pediatric patients.

    Science.gov (United States)

    Janus, Dominika Malgorzata; Wojcik, Malgorzata; Zygmunt-Górska, Agata; Wyrobek, Lukasz; Urbanik, Andrzej; Starzyk, Jerzy Bogdan

    2014-12-01

    To present symptoms, complications and proposition of management protocol in children diagnosed with adipsic diabetes insipidus (aDI). Clinical and biochemical analysis of six pediatric patients diagnosed with aDI, four boys aged 5, 13, 16, and 17 y and two girls aged 2.5 and 10 y. The etiology of aDI was germinoma (n = 2), extensive surgery due to optic glioma (n = 1) and astrocytoma (n = 1), congenital brain malformations (n = 1) and complications secondary to bacterial meningitis (n = 1). Two patients had severely impaired vision and two had hemiparesis. In all the patients, loss of thirst reflex was observed. The serum electrolytes in all patients showed sodium concentration from 159 to 176.6 mmol/L with plasma osmolality from above 297 mOsmol/kg. Polyuria was absent in three most severely dehydrated patients on admission. In two patients in whom DDAVP (1-desamino-8-D-arginine vasopressin; Desmopressin) therapy was withdrawn based on lack of polyuria deep venous thrombosis developed. Lack of polydipsia and polyuria, the key symptoms of diabetes insipidus (DI), may delay the diagnosis of aDI and may lead to severe complications of chronic hyperosmolar status. The fluid intake in patients diagnosed with aDI need to be supervised daily based on calculated constant volume of oral fluids, daily measurements of fluid balance, body weight and sodium levels, especially in patients whose vision is compromised or who are physically unable to take care of themselves.

  12. Membrane Protein Stability Analyses by Means of Protein Energy Profiles in Case of Nephrogenic Diabetes Insipidus

    Directory of Open Access Journals (Sweden)

    Florian Heinke

    2012-01-01

    Full Text Available Diabetes insipidus (DI is a rare endocrine, inheritable disorder with low incidences in an estimated one per 25,000–30,000 live births. This disease is characterized by polyuria and compensatory polydypsia. The diverse underlying causes of DI can be central defects, in which no functional arginine vasopressin (AVP is released from the pituitary or can be a result of defects in the kidney (nephrogenic DI, NDI. NDI is a disorder in which patients are unable to concentrate their urine despite the presence of AVP. This antidiuretic hormone regulates the process of water reabsorption from the prourine that is formed in the kidney. It binds to its type-2 receptor (V2R in the kidney induces a cAMP-driven cascade, which leads to the insertion of aquaporin-2 water channels into the apical membrane. Mutations in the genes of V2R and aquaporin-2 often lead to NDI. We investigated a structure model of V2R in its bound and unbound state regarding protein stability using a novel protein energy profile approach. Furthermore, these techniques were applied to the wild-type and selected mutations of aquaporin-2. We show that our results correspond well to experimental water ux analysis, which confirms the applicability of our theoretical approach to equivalent problems.

  13. Pre- and post-treatment urinary tract findings in children with nephrogenic diabetes insipidus.

    Science.gov (United States)

    Caletti, María Gracia; Balestracci, Alejandro; Di Pinto, Diana

    2014-03-01

    Nephrogenic diabetes insipidus (NDI) is characterized by the kidney's inability to concentrate urine, which causes intense polyuria that may lead to urinary tract dilation. We report the morphological findings of the urinary tract in ten boys with NDI specifically addressing the presence and changes of urinary tract dilation during treatment. Patients were diagnosed at a median age of 1.6 years (range, 0.16-6.33 years) and treated with a low osmotic diet, hydrochlorothiazide-amiloride and indomethacin, which decreased the diuresis from a median of 10.5 ml/kg/h to 4.4 ml/kg/h (p < 0.001). Three patients showed normal renal ultrasound before treatment until last control, while the remaining seven showed urinary tract dilation. In this second group, dilation was reduced with treatment in four patients and disappeared in the remaining three. Children without dilation or in whom the dilation disappeared were diagnosed and treated earlier than those with persistent dilation (median 1.66 versus 4.45 years, respectively). After a median of 10.4 (range, 2.3-20.3) years of follow-up, no patients showed urological complications. Medical treatment of the disease improved the dilation in all cases, preventing its potential complications. Regardless of the good outcome of our patients, periodic urologic follow-up is recommended in NDI patients.

  14. Maternal rhabdomyolysis and twin fetal death associated with gestational diabetes insipidus.

    Science.gov (United States)

    Price, Joan T; Schwartz, Nadav

    2013-08-01

    Gestational diabetes insipidus is a rare, transient complication of pregnancy typically characterized by polyuria and polydipsia that may lead to mild electrolyte abnormalities. More severe sequelae of gestational diabetes insipidus are uncommon. We present a case of a 25-year-old woman at 23 weeks of gestation in a dichorionic-diamniotic twin pregnancy who developed severe symptomatic gestational diabetes insipidus complicated by rhabdomyolysis and death of both fetuses. Maternal rhabdomyolysis caused by gestational diabetes insipidus is extremely rare. Early recognition and treatment of gestational diabetes insipidus is necessary to prevent maternal and fetal morbidity and mortality.

  15. Diabetes Insipidus after Traumatic Brain Injury

    Directory of Open Access Journals (Sweden)

    Cristina Capatina

    2015-07-01

    Full Text Available Traumatic brain injury (TBI is a significant cause of morbidity and mortality in many age groups. Neuroendocrine dysfunction has been recognized as a consequence of TBI and consists of both anterior and posterior pituitary insufficiency; water and electrolyte abnormalities (diabetes insipidus (DI and the syndrome of inappropriate antidiuretic hormone secretion (SIADH are amongst the most challenging sequelae. The acute head trauma can lead (directly or indirectly to dysfunction of the hypothalamic neurons secreting antidiuretic hormone (ADH or of the posterior pituitary gland causing post-traumatic DI (PTDI. PTDI is usually diagnosed in the first days after the trauma presenting with hypotonic polyuria. Frequently, the poor general status of most patients prevents adequate fluid intake to compensate the losses and severe dehydration and hypernatremia occur. Management consists of careful monitoring of fluid balance and hormonal replacement. PTDI is associated with high mortality, particularly when presenting very early following the injury. In many surviving patients, the PTDI is transient, lasting a few days to a few weeks and in a minority of cases, it is permanent requiring management similar to that offered to patients with non-traumatic central DI.

  16. Diabetes insipidus: Differential diagnosis and management.

    Science.gov (United States)

    Robertson, Gary L

    2016-03-01

    Diabetes insipidus (DI) is a syndrome characterized by the excretion of abnormally large volumes of dilute urine. It can be caused by any of 4 fundamentally different defects that must be distinguished for safe and effective management. They are: (1) pituitary DI, due to inadequate production and secretion of antidiuretic hormone, arginine-vasopressin (AVP); (2) gestational DI due to degradation of AVP by an enzyme made in placenta; (3) primary polydipsia, due to suppression of AVP secretion by excessive fluid intake; and (4) nephrogenic DI due to renal insensitivity to the antidiuretic effect of AVP. This review describes several methods of differential diagnosis, indicates the advantages and disadvantages of each and presents a new approach that is simpler and less costly but just as reliable as the best of the older methods. The various treatments for the different types of DI and recent findings on the genetic basis of the familial forms of DI are also discussed with emphasis on their contributions to improved diagnosis and management. Copyright © 2016 Elsevier Ltd. All rights reserved.

  17. Diabetes insipidus--diagnosis and management.

    Science.gov (United States)

    Di Iorgi, Natascia; Napoli, Flavia; Allegri, Anna Elsa Maria; Olivieri, Irene; Bertelli, Enrica; Gallizia, Annalisa; Rossi, Andrea; Maghnie, Mohamad

    2012-01-01

    Central diabetes insipidus (CDI) is the end result of a number of conditions that affect the hypothalamic-neurohypophyseal system. The known causes include germinoma/craniopharyngioma, Langerhans cell histiocytosis (LCH), local inflammatory, autoimmune or vascular diseases, trauma resulting from surgery or an accident, sarcoidosis, metastases and midline cerebral and cranial malformations. In rare cases, the underlying cause can be genetic defects in vasopressin synthesis that are inherited as autosomal dominant, autosomal recessive or X-linked recessive traits. The diagnosis of the underlying condition is challenging and raises several concerns for patients and parents as it requires long-term follow-up. Proper etiological diagnosis can be achieved via a series of steps that start with clinical observations and then progress to more sophisticated tools. Specifically, MRI identification of pituitary hyperintensity in the posterior part of the sella, now considered a clear marker of neurohypophyseal functional integrity, together with the careful analysis of pituitary stalk shape and size, have provided the most striking findings contributing to the diagnosis and understanding of some forms of 'idiopathic' CDI. MRI STIR (short-inversion-time inversion recovery sequencing) is a promising technology for the early identification of LCH-dependent CDI. Copyright © 2012 S. Karger AG, Basel.

  18. Diabetes Insipidus after Traumatic Brain Injury

    Science.gov (United States)

    Capatina, Cristina; Paluzzi, Alessandro; Mitchell, Rosalid; Karavitaki, Niki

    2015-01-01

    Traumatic brain injury (TBI) is a significant cause of morbidity and mortality in many age groups. Neuroendocrine dysfunction has been recognized as a consequence of TBI and consists of both anterior and posterior pituitary insufficiency; water and electrolyte abnormalities (diabetes insipidus (DI) and the syndrome of inappropriate antidiuretic hormone secretion (SIADH)) are amongst the most challenging sequelae. The acute head trauma can lead (directly or indirectly) to dysfunction of the hypothalamic neurons secreting antidiuretic hormone (ADH) or of the posterior pituitary gland causing post-traumatic DI (PTDI). PTDI is usually diagnosed in the first days after the trauma presenting with hypotonic polyuria. Frequently, the poor general status of most patients prevents adequate fluid intake to compensate the losses and severe dehydration and hypernatremia occur. Management consists of careful monitoring of fluid balance and hormonal replacement. PTDI is associated with high mortality, particularly when presenting very early following the injury. In many surviving patients, the PTDI is transient, lasting a few days to a few weeks and in a minority of cases, it is permanent requiring management similar to that offered to patients with non-traumatic central DI. PMID:26239685

  19. Diabetes insipidus following resection of pituitary tumors.

    Science.gov (United States)

    Schreckinger, Matthew; Szerlip, Nicholas; Mittal, Sandeep

    2013-02-01

    Diabetes insipidus (DI) is a common complication following pituitary surgery and can be transient or permanent. Neurogenic DI occurs following injury to the magnocellular neurons in the hypothalamus that produce and transport arginine vasopressin (AVP) and form the hypothalamo-hypophyseal tract. DI is defined by a constellation of signs and symptoms resulting in dilute high-volume urine output and increasing serum osmolality. The body's inability to concentrate urine leaves the patient dehydrated and leads to metabolic abnormalities that can be life threatening if not recognized and treated in a timely manner with an exogenous AVP analog. The reported incidence of postsurgical central DI varies from 1 to 67%. This wide range likely reflects inconsistencies in the working definition of DI across the literature. Factors affecting the rate of DI include pituitary tumor size, adherence to surrounding structures, surgical approach, and histopathology of pituitary lesion. The likelihood of postoperative DI can be reduced by careful preservation of the neurovascular structures of the hypothalamus, infundibulum, and neurohypophysis. Vigilance and meticulous surgical technique are essential to minimize injury to these critical regions that can lead to postsurgical DI. Copyright © 2012 Elsevier B.V. All rights reserved.

  20. Diabetes insipidus secondary to sarcoidosis presenting with caseating granuloma

    Science.gov (United States)

    Alam, Taimour; Thomas, Steven

    2011-01-01

    Diabetes insipidus is a rare complication of sarcoid infiltration of the hypothalamic-pituitary region. Non-caseating granuloma formation is typical of sarcoidosis. Anterior and posterior pituitary function may be affected. MRI coupled with endocrinology assessment is the usual method of investigation. A 25-year-old Caucasian male with no significant medical history presented with polyuria and polydipsia. Water deprivation test confirmed diabetes insipidus. CT scanning of the chest confirmed lymphadenopathy. Lymph node biopsy revealed caseating granuloma. Extensive investigation for tuberculosis was negative. The patient was started on intranasal desmopressin and steroids with marked improvement in symptoms. This is the first reported case of neurosarcoidosis with diabetes insipidus and caseation on histology that we are aware of. Differentiating between caseation due to sarcoidosis and tuberculosis on histology is possible by the use of special stains. Return of normal endocrine function is unusual and the patient is likely to require desmopressin therapy for life. PMID:22707619

  1. One too many diabetes: the combination of hyperglycaemic hyperosmolar state and central diabetes insipidus

    Directory of Open Access Journals (Sweden)

    Snezana Burmazovic

    2018-04-01

    Full Text Available The combination of hyperosmolar hyperglycaemic state and central diabetes insipidus is unusual and poses unique diagnostic and therapeutic challenges for clinicians. In a patient with diabetes mellitus presenting with polyuria and polydipsia, poor glycaemic control is usually the first aetiology that is considered, and achieving glycaemic control remains the first course of action. However, severe hypernatraemia, hyperglycaemia and discordance between urine-specific gravity and urine osmolality suggest concurrent symptomatic diabetes insipidus. We report a rare case of concurrent manifestation of hyperosmolar hyperglycaemic state and central diabetes insipidus in a patient with a history of craniopharyngioma.

  2. Contiguous 22.1-kb deletion embracing AVPR2 and ARHGAP4 genes at novel breakpoints leads to nephrogenic diabetes insipidus in a Chinese pedigree.

    Science.gov (United States)

    Bai, Ying; Chen, Yibing; Kong, Xiangdong

    2018-02-02

    It has been reported that mutations in arginine vasopressin type 2 receptor (AVPR2) cause congenital X-linked nephrogenic diabetes insipidus (NDI). However, only a few cases of AVPR2 deletion have been documented in China. An NDI pedigree was included in this study, including the proband and his mother. All NDI patients had polyuria, polydipsia, and growth retardation. PCR mapping, long range PCR and sanger sequencing were used to identify genetic causes of NDI. A novel 22,110 bp deletion comprising AVPR2 and ARH4GAP4 genes was identified by PCR mapping, long range PCR and sanger sequencing. The deletion happened perhaps due to the 4-bp homologous sequence (TTTT) at the junctions of both 5' and 3' breakpoints. The gross deletion co-segregates with NDI. After analyzing available data of putative clinical signs of AVPR2 and ARH4GAP4 deletion, we reconsider the potential role of AVPR2 deletion in short stature. We identified a novel 22.1-kb deletion leading to X-linked NDI in a Chinese pedigree, which would increase the current knowledge in AVPR2 mutation.

  3. Diabetes insipidus as a complication after pituitary surgery.

    Science.gov (United States)

    Loh, Jennifer A; Verbalis, Joseph G

    2007-06-01

    A 28-year-old woman presented with new-onset vertigo and diplopia that had started 2 weeks previously. An MRI scan of the brain revealed an 11 x 9 x 9 mm sellar mass that extended into the suprasellar region. Evaluation of pituitary function showed mild central hypothyroidism and secondary adrenal insufficiency. The patient underwent trans-sphenoidal resection of the mass without any significant intraoperative complications. On postoperative day 1 she abruptly developed polyuria, hypernatremia and urine hypo-osmolality. Measurements of plasma and urine osmolality, urine specific gravity, and serum sodium levels. Postoperative diabetes insipidus with a triphasic pattern. The patient's diabetes insipidus was initially treated with intravenous desmopressin, and her fluid status, serum sodium levels, and serum and urine osmolality were carefully monitored. During the second, antidiuretic phase, desmopressin was discontinued and the patient's fluid intake was restricted. After recurrence of diabetes insipidus during the third phase, the patient was treated with intranasal desmopressin and was discharged. She remains on desmopressin therapy for chronic diabetes insipidus.

  4. Cerebral Malaria: An Unusual Cause of Central Diabetes Insipidus

    Directory of Open Access Journals (Sweden)

    Resmi Premji

    2016-01-01

    Full Text Available Central diabetes insipidus is an uncommon feature of malaria. A previously healthy 72-year-old man presented with fever, rigors, and altered mental status after a recent trip to Liberia, a country known for endemic falciparum malaria. Investigations confirmed plasmodium falciparum parasitemia. Within one week after admission, the serum sodium rose to 166 mEq/L and the urine output increased to 7 liters/day. Other labs were notable for a high serum osmolality, low urine osmolality, and low urine specific gravity. The hypernatremia did not respond to hypotonic fluids. Diabetes insipidus was suspected and parenteral desmopressin was started with a prompt decrease in urinary output and improvement in mental status. Additional testing showed normal anterior pituitary hormones. The desmopressin was eventually tapered off with complete resolution of symptoms. Central diabetes insipidus occurred likely as a result of obstruction of the neurohypophyseal microvasculature. Other endocrinopathies that have been reported with malaria include hyponatremia, adrenal insufficiency, hypothyroidism, hypocalcemia, hypophosphatemia, hyper-, and hypoglycemia, but none manifested in our patient. Though diabetes insipidus is a rare complication of malaria, clinicians need to be aware of this manifestation, as failure to do so may lead to fatality particularly if the patient is dehydrated.

  5. Diabetes Insipidus: A Challenging Diagnosis with New Drug Therapies

    Science.gov (United States)

    Saifan, Chadi; Nasr, Rabih; Mehta, Suchita; Sharma Acharya, Pranab; Perrera, Isera; Faddoul, Giovanni; Nalluri, Nikhil; Kesavan, Mayurakhan; Azzi, Yorg; El-Sayegh, Suzanne

    2013-01-01

    Diabetes Insipidus (DI) is either due to deficient secretion of arginine vasopressin (central) or to tubular unresponsiveness (nephrogenic). Drug induced DI is a well-known entity with an extensive list of medications. Polyuria is generally defined as urine output exceeding 3 liters per day in adults. It is crucial to identify the cause of diabetes insipidus and to implement therapy as early as possible to prevent the electrolyte disturbances and the associated mortality and morbidity. It is very rare to have an idiosyncratic effect after a short use of a medication, and physicians should be aware of such a complication to avoid volume depletion. The diagnosis of diabetes insipidus is very challenging because it relies on laboratory values, urine output, and the physical examination of the patient. A high clinical suspicion of diabetes insipidus should be enough to initiate treatment. The complications related to DI are mostly related to the electrolyte imbalance that can affect the normal physiology of different organ systems. PMID:24977135

  6. Lithium-associated primary hyperparathyroidism complicated by nephrogenic diabetes insipidus.

    Science.gov (United States)

    Aksakal, Nihat; Erçetin, Candaş; Özçınar, Beyza; Aral, Ferihan; Erbil, Yeşim

    2015-01-01

    Lithium-associated hyperparathyroidism is the leading cause of hypercalcemia in lithium-treated patients. Lithium may lead to exacerbation of pre-existing primary hyperparathyroidism or cause an increased set-point of calcium for parathyroid hormone suppression, leading to parathyroid hyperplasia. Lithium may cause renal tubular concentration defects directly by the development of nephrogenic diabetes insipidus or indirectly by the effects of hypercalcemia. In this study, we present a female patient on long-term lithium treatment who was evaluated for hypercalcemia. Preoperative imaging studies indicated parathyroid adenoma and multinodular goiter. Parathyroidectomy and thyroidectomy were planned. During the postoperative course, prolonged intubation was necessary because of agitation and delirium. During this period, polyuria, severe dehydration, and hypernatremia developed, which responded to controlled hypotonic fluid infusions and was unresponsive to parenteral desmopressin. A diagnosis of nephrogenic diabetes insipidus was apparent. A parathyroid adenoma and multifocal papillary thyroid cancer were detected on histopathological examination. It was thought that nephrogenic diabetes insipidus was masked by hypercalcemia preoperatively. A patient on lithium treatment should be carefully followed up during or after surgery to prevent life-threatening complications of previously unrecognized nephrogenic diabetes insipidus, and the possibility of renal concentrating defects on long-term lithium use should be sought, particularly in patients with impaired consciousness.

  7. Diabetes insipidus - a rare complication of major flame burn: case ...

    African Journals Online (AJOL)

    Background: Diabetes insipidus is a syndrome characterised by polyuria which is associated with urinary frequency, enuresis, nocturia and polydipsia. We present this case to highlight the significant role of high degree of clinical suspicion and interdisciplinary management resulting in a rewarding outcome in a limited ...

  8. Current perspective on the pathogenesis of central diabetes insipidus.

    Science.gov (United States)

    Ghirardello, Stefano; Malattia, Clara; Scagnelli, Paola; Maghnie, Mohamad

    2005-07-01

    Diabetes insipidus is a heterogeneous condition characterised by polyuria and polydipsia caused by a lack of secretion of vasopressin, its physiological suppression following excessive water intake, or kidney resistance to its action. The clinical and laboratory diagnosis is confirmed by standard tests, but recent advances in molecular biology and imaging techniques have shed new light on the pathophysiology of this disease. In many patients, central diabetes insipidus is caused by a germinoma or craniopharyngioma; Langerhans' cell histiocytosis and sarcoidosis of the central nervous system; local inflammatory, autoimmune or vascular diseases; trauma from surgery or accident; and, rarely, genetic defects in vasopressin biosynthesis inherited as autosomal dominant or X-linked recessive traits. Thirty to fifty percent of cases are considered idiopathic. Tumour-associated central diabetes insipidus is uncommon in children younger than 5 years old. Biopsy of enlarged pituitary stalk should be reserved for patients with hypothalamic-pituitary mass and progressive thickening of the pituitary stalk since spontaneous recovery may occur. Molecular biology in selected patients may identify those with apparently idiopathic diabetes insipidus carrying the vasopressin-neurophysin II gene mutation.

  9. Autophagic degradation of aquaporin-2 is an early event in hypokalemia-induced nephrogenic diabetes insipidus.

    Science.gov (United States)

    Khositseth, Sookkasem; Uawithya, Panapat; Somparn, Poorichaya; Charngkaew, Komgrid; Thippamom, Nattakan; Hoffert, Jason D; Saeed, Fahad; Michael Payne, D; Chen, Shu-Hui; Fenton, Robert A; Pisitkun, Trairak

    2015-12-17

    Hypokalemia (low serum potassium level) is a common electrolyte imbalance that can cause a defect in urinary concentrating ability, i.e., nephrogenic diabetes insipidus (NDI), but the molecular mechanism is unknown. We employed proteomic analysis of inner medullary collecting ducts (IMCD) from rats fed with a potassium-free diet for 1 day. IMCD protein quantification was performed by mass spectrometry using a label-free methodology. A total of 131 proteins, including the water channel AQP2, exhibited significant changes in abundance, most of which were decreased. Bioinformatic analysis revealed that many of the down-regulated proteins were associated with the biological processes of generation of precursor metabolites and energy, actin cytoskeleton organization, and cell-cell adhesion. Targeted LC-MS/MS and immunoblotting studies further confirmed the down regulation of 18 selected proteins. Electron microscopy showed autophagosomes/autophagolysosomes in the IMCD cells of rats deprived of potassium for only 1 day. An increased number of autophagosomes was also confirmed by immunofluorescence, demonstrating co-localization of LC3 and Lamp1 with AQP2 and several other down-regulated proteins in IMCD cells. AQP2 was also detected in autophagosomes in IMCD cells of potassium-deprived rats by immunogold electron microscopy. Thus, enhanced autophagic degradation of proteins, most notably including AQP2, is an early event in hypokalemia-induced NDI.

  10. Frequent occurrence of the triphasic response (diabetes insipidus/hyponatremia/diabetes insipidus) after surgery for craniopharyngioma in childhood

    NARCIS (Netherlands)

    Finken, Martijn J. J.; Zwaveling-Soonawala, Nitash; Walenkamp, Marie J. E.; Vulsma, Thomas; van Trotsenburg, A. S. Paul; Rotteveel, Joost

    2011-01-01

    It is not exactly known how many children develop the triphasic response (diabetes insipidus (DI)/hyponatremia/DI) immediately after surgery for childhood craniopharyngioma; neither is it known which factors predict this. We studied the occurrence of the triphasic response after primary surgery for

  11. Frequent Occurrence of the Triphasic Response (Diabetes Insipidus/Hyponatremia/Diabetes Insipidus) after Surgery for Craniopharyngioma in Childhood

    NARCIS (Netherlands)

    Finken, M.J.J.; Zwaveling-Soonawala, N.; Walenkamp, M.J.E.; Vulsma, T.; van Trotsenburg, A.S.P.; Rotteveel, J.

    2011-01-01

    Background/Aims: It is not exactly known how many children develop the triphasic response (diabetes insipidus (DI)/hyponatremia/DI) immediately after surgery for childhood craniopharyngioma; neither is it known which factors predict this. We studied the occurrence of the triphasic response after

  12. [Coexistence of autoimmune polyglandular syndrome type 3 with diabetes insipidus].

    Science.gov (United States)

    Krysiak, Robert; Okopień, Bogusław

    2015-01-01

    Autoimmune polyglandular syndromes are conditions characterized by the combination of two or more organ-specific disorders. The underestimation oftheir real frequency probable results from physicians' inadequate knowledge of these clinical entities and sometimes their atypical clinical presentation. Because they comprise a wide spectrum of autoimmune disorders, autoimmune polyglandular syndromes are divided into four types, among which type-3 is the most common one. In this article, we report the case of a young female, initially diagnosed with diabetes mellitus who several years later developed full-blown autoimmune polyglandular syndrome type 3 consisting of autoimmune thyroid disorder and latent autoimmune diabetes in adults.The discussed case suggests that in selected patients diabetes insipidus may coexist with autoimmune endocrinopathies and nonendocrine autoimmunopathies, as well as that in some patients idiopathic diabetes insipidus may be secondary to lymphocytic infiltration and destruction of the hypothalamic supraoptic and paraventricular nuclei and/or the supraoptic-hypophyseal tract

  13. Prasugrel suppresses development of lithium-induced nephrogenic diabetes insipidus in mice.

    Science.gov (United States)

    Zhang, Yue; Peti-Peterdi, János; Brandes, Anna U; Riquier-Brison, Anne; Carlson, Noel G; Müller, Christa E; Ecelbarger, Carolyn M; Kishore, Bellamkonda K

    2017-06-01

    Previously, we localized ADP-activated P2Y 12 receptor (R) in rodent kidney and showed that its blockade by clopidogrel bisulfate (CLPD) attenuates lithium (Li)-induced nephrogenic diabetes insipidus (NDI). Here, we evaluated the effect of prasugrel (PRSG) administration on Li-induced NDI in mice. Both CLPD and PRSG belong to the thienopyridine class of ADP receptor antagonists. Groups of age-matched adult male B6D2 mice (N = 5/group) were fed either regular rodent chow (CNT), or with added LiCl (40 mmol/kg chow) or PRSG in drinking water (10 mg/kg bw/day) or a combination of LiCl and PRSG for 14 days and then euthanized. Water intake and urine output were determined and blood and kidney tissues were collected and analyzed. PRSG administration completely suppressed Li-induced polydipsia and polyuria and significantly prevented Li-induced decreases in AQP2 protein abundance in renal cortex and medulla. However, PRSG either alone or in combination with Li did not have a significant effect on the protein abundances of NKCC2 or NCC in the cortex and/or medulla. Immunofluorescence microscopy revealed that PRSG administration prevented Li-induced alterations in cellular disposition of AQP2 protein in medullary collecting ducts. Serum Li, Na, and osmolality were not affected by the administration of PRSG. Similar to CLPD, PRSG administration had no effect on Li-induced increase in urinary Na excretion. However, unlike CLPD, PRSG did not augment Li-induced increase in urinary arginine vasopressin (AVP) excretion. Taken together, these data suggest that the pharmacological inhibition of P2Y 12 -R by the thienopyridine group of drugs may potentially offer therapeutic benefits in Li-induced NDI.

  14. Korsakoff's psychosis due to massive beer intake provoked by diabetes insipidus.

    Science.gov (United States)

    Farr, R W; Blankenship, D C; Viti, A; Albrink, M J

    1988-05-01

    Posttraumatic diabetes insipidus, acute pancreatitis, and Wernicke's encephalopathy and Korsakoff's psychosis in a 33-year-old white male alcohol abuser resulted in near-fatal cardiovascular collapse. The Wernicke's encephalopathy and Korsakoff's psychosis resulted from drinking massive quantities of beer to satisfy the thirst induced by diabetes insipidus. Although the diabetes insipidus was controlled with vasopressin, and the need for vasopressin resolved two months after diagnosis, the Wernicke-Korsakoff syndrome had not resolved by six months.

  15. Diabetes mellitus, diabetes insipidus, optic atrophy, and deafness: A case of Wolfram (DIDMOAD) syndrome.

    Science.gov (United States)

    Maleki, Nasrollah; Bashardoust, Bahman; Zakeri, Anahita; Salehifar, Azita; Tavosi, Zahra

    2015-01-01

    To report a case of Wolfram syndrome (WS) characterized by diabetes mellitus, diabetes insipidus, progressive optic atrophy, and deafness. A 19-year-old female patient, a known case of diabetes mellitus type I from six years before, presented with progressive vision loss since four years earlier. On fundoscopic examination, she had bilateral optic atrophy without diabetic retinopathy. The patient also had diabetes insipidus, neurosensory deafness, and neurogenic bladder. WS should be considered a differential diagnosis in patients with diabetes mellitus who present with optic atrophy, and it is necessary to perform a hearing test as well as collecting 24-h urine output.

  16. Diabetes insipidus: main aspects and comparative analysis with diabetes mellitus Diabetes insipidus: principais aspectos e análise comparativa com diabetes mellitus

    Directory of Open Access Journals (Sweden)

    Flávia Lúcia Abreu Rabelo

    2009-01-01

    Full Text Available Diabetes mellitus is a disease characterized by the excess of sugar in the blood and urine. The two most common types of diabetes are insulin-dependent diabetes mellitus and insulin-resistant diabetes mellitus, both presenting glycemic regulation-damage caused by insulin. Nevertheless, there is another type of diabetes that is less known but not less important, the diabetes insipidus, which is characterized by a problem with the synthesis, secretion or action of the ADH (anti-diuretic hormone that can result in polyuric syndromes with increased excretion of hypotonic urine. Physiologically, variations in the osmotic pressure activate osmoceptors that stimulate the ADH secretion, increasing water reabsorption in the kidney collection tubes. This article intends to revise a wide-ranging study on diabetes insipidus, aiming at a comparative analysis of the incidence, diagnosis, causes, types, treatment and consequences between diabetes insidipus and diabetes mellitus. Diabetes mellitus and insipidus are two different pathologies with a single similarity that is the diabetes itself, that is, the polyuria established. The knowledge of the significant differences between the pathologies studied is important once diabetes insipidus is less known, but can lead to serious complications if not properly treated. O diabetes mellitus é uma doença caracterizada pelo excesso de açúcar no sangue e na urina. Os dois tipos mais comuns de diabetes são diabetes mellitus insulino-dependente e diabetes mellitus insulino – resistente, e que ambos apresentam comprometimento da regulação da glicemia por ação da insulina. No entanto, existe outra forma de diabetes menos conhecida, mas não menos importante, o diabetes insipidus, que é caracterizado por um distúrbio na síntese, secreção ou ação do ADH (hormônio antidiurético, que pode resultar em síndromes poliúricas com excreção aumentada de urina hipotônica. Fisiologicamente, variações na press

  17. Profound hyper natremia due to central diabetes insipidus

    International Nuclear Information System (INIS)

    Vaqar, A.; Javaid, K.H.; Parveen, R.; Sadaf, R.

    2012-01-01

    Diabetes insipidus is a rare endocrine disorder in paediatric patients. Polyuria is a cardinal manifestation that is extremely difficult to recognize in diapered infants. Careful urine quantification is the key to diagnosis in appropriate clinical setting. We report a case of a 4 months old infant presenting with an acute life threatening event following an episode of vomiting and decreased oral intake. She had profound hyper natremia which persisted after stabilization. Polyuria unrecognized by the mother was revealed by 24-hour urine output measurement. A diagnosis of diabetes insipidus was made after appropriate laboratory investigations including serum and urine osmolality. The central nature of the disease was confirmed by neuroimaging which showed holoprosencephaly. (author)

  18. Partial central diabetes insipidus in patient with common variable immunodeficiency.

    Science.gov (United States)

    Megías, Marta Cano; Matei, Ana Maria; Gonzalez Albarran, Olga; Perez Lopez, Gilberto

    2012-07-03

    Approximately 20% of patients with common variable immunodeficiency (CVID) have any autoimmune disease, as concurrent as prior to diagnosis, even during follow-up. In recent years, cases of CVID associated to endocrine autoimmune diseases have been reported. To our knowledge, no cases of CVID with diabetes insipidus has been reported previously. The authors present the case of a 37-year-old male, diagnosed of CVID, who had thirst, polyuria and nocturia for several years. After a water deprivation test and a complete resolution of patient's symptoms with vasopressin (DDAVP) treatment, diagnosis of partial central diabetes insipidus was finally made. Patients diagnosed of CVID could develop water misbalance due to posterior hypophysis autoimmune disorder. A high index of clinical suspicion, an early diagnosis and treatment of these disease could avoid future complications and improve the quality of life of these patients.

  19. Xanthoma Disseminatum in a Young Patient with Diabetes Insipidus.

    Science.gov (United States)

    Hui, Yun; Zhang, Cheng-Zhen; Chen, Jun; Kong, Qing-Tao; Chen, Huan; Du, Xue; Sang, Hong

    2017-05-01

    Xanthoma disseminatum (XD) is a nonfamilial type of normolipidemic mucocutaneous xanthomatosis that belongs to the group of non-Langerhans cell histiocytoses. More than 100 cases of XD have been reported. In this study we report a case of XD in a 4-year-old boy with diabetes insipidus (DI). This boy is one of the youngest patients ever to present with XD combined with DI. © 2017 Wiley Periodicals, Inc.

  20. Late onset of familial neurogenic diabetes insipidus in monozygotic twins.

    Science.gov (United States)

    Cizmarova, M; Nagyova, G; Janko, V; Pribilincova, Z; Virgova, D; Ilencikova, D; Kovacs, L

    2013-10-01

    Autosomal dominant familial diabetes insipidus (FNDI) is a rare disease characterized by polydipsia and polyuria due to deficiency of the antidiuretic hormone, arginine vasopressin (AVP). We report the first Slovak family with the disease. Noteworthy is the concordantly belated debut of the disease symptoms in two monozygotic twin proband girls in the age of 17 years. Because of inconclusive results of water deprivation test consistent with partial diabetes insipidus (DI), missing "bright spot" of posterior pituitary gland in T1-weighted magnetic resonance imaging and family occurrence of polyuria and polydipsia on anamnestic evaluation. Molecular genetic testing of the AVP gene was proceeded, because of the inconclusive results of water deprivation test consistent with partial diabetes insipidus, missing "bright spot" of posterior pituitary gland in T1-weighted magnetic resonance imaging and family occurrence of polyuria and polydipsia on anamnestic evaluation. Genetic analysis revealed a heterozygous g.279G>A substitution that predicts a p.Ala19Thr substitution in the signal peptide of the AVP prohormone. The wide intrafamiliar variations (3 to 17 years) in disease onset together with the concordantly delayed debut of polyuria in two monozygotic twin girls suggest that individual differences in genetic influences family environmental factors may modify the penetrance of the mutation of the AVP gene. The present paper supports the notion that molecular genetic evaluation should be performed in all patients with familial occurrence of DI regardless of the clinical results.

  1. One too many diabetes: the combination of hyperglycaemic hyperosmolar state and central diabetes insipidus.

    Science.gov (United States)

    Burmazovic, Snezana; Henzen, Christoph; Brander, Lukas; Cioccari, Luca

    2018-01-01

    The combination of hyperosmolar hyperglycaemic state and central diabetes insipidus is unusual and poses unique diagnostic and therapeutic challenges for clinicians. In a patient with diabetes mellitus presenting with polyuria and polydipsia, poor glycaemic control is usually the first aetiology that is considered, and achieving glycaemic control remains the first course of action. However, severe hypernatraemia, hyperglycaemia and discordance between urine-specific gravity and urine osmolality suggest concurrent symptomatic diabetes insipidus. We report a rare case of concurrent manifestation of hyperosmolar hyperglycaemic state and central diabetes insipidus in a patient with a history of craniopharyngioma. In patients with diabetes mellitus presenting with polyuria and polydipsia, poor glycaemic control is usually the first aetiology to be considered.However, a history of craniopharyngioma, severe hypernatraemia, hyperglycaemia and discordance between urine-specific gravity and osmolality provide evidence of concurrent diabetes insipidus.Therefore, if a patient with diabetes mellitus presents with severe hypernatraemia, hyperglycaemia, a low or low normal urinary-specific gravity and worsening polyuria despite correction of hyperglycaemia, concurrent diabetes insipidus should be sought.

  2. [Clinical characteristics of 7 patients with gestational diabetes insipidus].

    Science.gov (United States)

    Wu, Li-Qun; Xiong, Chun-Qiu; Wu, Min; Dong, Ruo-Lin; Chen, Yun-Qin; Gao, Jie; Chen, Ou-Jing; Huang, Yin-Ping

    2008-04-01

    To investigate the clinical feature, treatment and prognosis of both the mother and the fetus with gestational diabetes insipidus. A total of 7 cases of gestational diabetes insipidus collected in the First Affiliated Hospital of Wenzhou Medical College, Wenzhou Combination of Traditional Chinese Medicine with Western Medicine Hospital, and Zhejiang Taizhou Hospital from June 1993 to June 2006 were analyzed retrospectively. Seven cases symptoms all characterized by excessive thirst polydipsia and polyuria. The average 24 h urinary output was between 11 L to 13 L and manifested of hypobaricuria. After effective treatment (three cases were treated with 1-deamino-8-D-arginine vasopressin, another three patients were managed with hydrochlorothiazide, and the last one was cured with antisterone), seven patients with gestational diabetes insipidus did not have any severe consequences. Their symptoms of excessive thirst, polyuria, and polydypsia disappeared from 7 days to 3 months after parturition. Urinary volume returned to normal standard of 1000-2000 ml during 24 hours. Specific gravity of urine recovered normally between a range 1.015-1.025 and serum sodium recovered between 135-147 mmol/L. The average duration of illness was 52 days. Eight newborn infants survived. Two of them were sent to neonatal intensive care unit for treatment. One was because of premature delivery caused by antepartum eclampsia, and the other case was one of the twins who had hydronephrosis. The baby of the first case left hospital after 3 weeks' treatment. The latter one's symptom disappeared 2 weeks after delivery. No obvious symptom was discovered among all the babies through follow-up telephone calls 42 days after childbirth. Gestational diabetes insipidus is a rare endocrinopathy complicating pregnancy. This disorder is characterized by excessive thirst, polydypsia, polyuria, hypobaric urine and electrolyte disturbances usually manifesting in the third trimester of pregnancy or puerperium

  3. Aldose Reductase-Deficient Mice Develop Nephrogenic Diabetes Insipidus

    Science.gov (United States)

    Ho, Horace T. B.; Chung, Sookja K.; Law, Janice W. S.; Ko, Ben C. B.; Tam, Sidney C. F.; Brooks, Heddwen L.; Knepper, Mark A.; Chung, Stephen S. M.

    2000-01-01

    Aldose reductase (ALR2) is thought to be involved in the pathogenesis of various diseases associated with diabetes mellitus, such as cataract, retinopathy, neuropathy, and nephropathy. However, its physiological functions are not well understood. We developed mice deficient in this enzyme and found that they had no apparent developmental or reproductive abnormality except that they drank and urinated significantly more than their wild-type littermates. These ALR2-deficient mice exhibited a partially defective urine-concentrating ability, having a phenotype resembling that of nephrogenic diabetes insipidus. PMID:10913167

  4. Quality of life in the patients with central diabetes insipidus assessed by Nagasaki Diabetes Insipidus Questionnaire.

    Science.gov (United States)

    Nozaki, Aya; Ando, Takao; Akazawa, Satoru; Satoh, Tsuyoshi; Sagara, Ikuko; Horie, Ichiro; Imaizumi, Misa; Usa, Toshiro; Yanagisawa, Robert T; Kawakami, Atsushi

    2016-01-01

    Central diabetes insipidus (CDI) is characterized by polyuria and polydipsia due to a deficiency of vasopressin. Currently, the treatment goal for CDI is improvement of quality of life (QOL) by desmopressin (DDAVP) without developing hyponatremia. However, there is no reliable measure for QOL in CDI patients. We evaluate our original questionnaire for QOL, consisting of 12 questions focusing on polyuria, polydipsia, and DDAVP treatment, in CDI patients who underwent a switch from nasal spray to oral disintegrating tablets of DDAVP. Twenty-five CDI patients under nasal DDAVP treatment, six with newly developed CDI, and 18 healthy individuals without known polyuric/polydipsic disorders as control subjects were enrolled. QOL scores were determined by our questionnaire at the enrollment and 3 months after the start of oral DDAVP treatment and were examined by the Wilcoxon signed-rank test. Eleven questions detected improvement in QOL. The sum of the QOL scores of the eleven questions increased from 29.2 ± 5.6 under nasal to 36.8 ± 4.5 under oral DDAVP (p < 0.001). There were no clinically relevant changes in serum levels of Na. After eliminating two questions about DDAVP treatment, the sum of QOL scores was 15.3 ± 6.5 in untreated CDI patients, 24.4 ± 5.2 in those with nasal treatment, 28.9 ± 4.9 in those with oral DDAVP, and 29.5 ± 3.6 in healthy controls. The difference among groups was significant (p < 0.05 in Steel-Dwass test) except between patients treated with oral DDAVP and healthy controls. Our questionnaire can be used to accurately assess QOL in CDI patients.

  5. Transient Diabetes Insipidus Following Thermal Burn; A Case Report and Literature Review.

    Science.gov (United States)

    Dash, Suvashis; Ghosh, Shibajyoti

    2017-10-01

    Diabetes insipidus is a disease charaterised by increased urine production and thrist. Neurogenic diabetes insipidus following head trauma,autoimmune disease and infection is quite common but diabetes insipidus following thermal burn injury is a rare complication.We should know about this complication as its management need a comprehensive approach for satisfactory outcome. Thermal burn can cause different complications in early post burn period like electrolyte imbalance, dehydration, acute renal failure, but diabetes insipidus is a very rare and unusual complication that may come across in thermal burn. We should be aware about this condition to prevent and treat mortality and morbidity in burn patients. We have reported a case of transient diabetes insipidus in a patient of thermal burn in early post burn period. Patient was treated accordingly, leading to complete recovery.

  6. Bendamustine-Induced Nephrogenic Diabetes Insipidus in a Patient With AL Amyloidosis.

    Science.gov (United States)

    Uwumugambi, Nsabimana A; Sanchorawala, Vaishali; Shelton, Anthony C; Stern, Lauren; Gordon, Craig E

    2017-02-01

    Nephrogenic diabetes insipidus is a condition characterized by polyuria with dilute urine due to the inability of the principal cells of the renal collecting ducts to respond to antidiuretic hormone and concentrate urine. Nephrogenic diabetes insipidus can be drug induced, and several chemotherapeutic agents have been reported to cause it. Bendamustine is a traditional chemotherapeutic agent being studied for treatment for relapsed systemic AL amyloidosis. We report a case of a 59-year-old man with AL amyloidosis who developed partial nephrogenic diabetes insipidus after receiving bendamustine for treatment of AL amyloidosis. The nephrogenic diabetes insipidus responded well to sodium restriction, hydrochlorothiazide, and desmopressin treatment, allowing the patient to receive subsequent bendamustine cycles without polyuria. Nephrogenic diabetes insipidus resolved shortly after completion of bendamustine therapy. Copyright © 2016 National Kidney Foundation, Inc. Published by Elsevier Inc. All rights reserved.

  7. Nephrogenic Diabetes Insipidus: A Rare Presentation in Multiple Myeloma

    Directory of Open Access Journals (Sweden)

    Mehdi Dehghani

    2012-04-01

    Full Text Available We report a case of multiple myeloma that presented with anorexia, fatigue, high erythrocyte sedimentation rate, bone marrow plasmacytosis of more than 30%, polyuria,and low urine specific gravity. This unusual presentation was diagnosed as nephrogenic diabetes insipidus secondary to a proximal tubular dysfunction. The tubular functional disturbance appeared to be related to thepresence of lambda-type light chains. The patient was treated withdesmopressine without response. After one month of treatment with thalidomide and dexamethasone for myeloma there was a dramatic response with decreased urine output.

  8. Anterior Hypopituitarism is Rare and Autoimmune Disease is Common in Adults with Idiopathic Central Diabetes Insipidus.

    LENUS (Irish Health Repository)

    2012-02-01

    Objective: Central diabetes insipidus is a rare clinical condition with a heterogenous aetiology. Up to 40% of cases are classified as idiopathic, though many of these are thought to have an autoimmune basis. Published data has suggested that anterior hypopituitarism is common in childhood onset idiopathic diabetes insipidus. We aimed to assess the incidence of anterior hypopituitarism in a cohort of adult patients with idiopathic diabetes insipidus. Design and Patients: We performed a retrospective review of the databases of two pituitary investigation units. This identified 39 patients with idiopathic diabetes insipidus. All had undergone MRI scanning and dynamic pituitary testing (either insulin tolerance testing or GHRH\\/arginine and short synacthen testing) to assess anterior pituitary function. Results: One patient had partial growth hormone deficiency; no other anterior pituitary hormonal deficits were found. 33% had at least one autoimmune disease in addition to central diabetes insipidus. Conclusions: Our data suggest that anterior hypopituitarism is rare in adult idiopathic diabetes insipidus. Routine screening of these patients for anterior hypopituitarism may not therefore be indicated. The significant prevalence of autoimmune disease in this cohort supports the hypothesis that idiopathic diabetes insipidus may have an autoimmune aetiology.

  9. The Value of Urine Specific Gravity in Detecting Diabetes Insipidus in a Patient with Uncontrolled Diabetes Mellitus

    Science.gov (United States)

    Akarsu, Ersin; Buyukhatipoglu, Hakan; Aktaran, Sebnem; Geyik, Ramazan

    2006-01-01

    When a patient with diabetes mellitus presents with worsening polyuria and polydipsia, what is a sensible, cost-effective approach? We report the unique coincidence of type 2 diabetes mellitus and diabetes insipidus. A 46-year-old woman with poorly controlled type 2 diabetes complained of polyuria with a daily output of 5 L. Although urinalysis demonstrated significant glucosuria, diabetes insipidus was suspected owing to a low urine specific gravity (1.008). The low specific gravity persisted during a water deprivation test. Ultimately, diabetes insipidus was confirmed when urine specific gravity and urine osmolality normalized following desmopressin administration. This case emphasizes the importance of accurately interpreting the urine specific gravity in patients with polyuria and diabetes mellitus to detect diabetes insipidus. PMID:17026722

  10. Manifestation of Central Diabetes Insipidus in a Patient with Thyroid Storm.

    Science.gov (United States)

    Nakamichi, Akiko; Ocho, Kazuki; Oka, Kosuke; Yasuda, Miho; Hasegawa, Kou; Iwamuro, Masaya; Obika, Mikako; Rai, Kammei; Otsuka, Fumio

    2018-02-28

    We herein report a case of central diabetes insipidus complicated with thyroid storm. A middle-aged woman who was receiving treatment for Graves' disease suddenly complained of polydipsia, polyuria and general fatigue. Laboratory tests showed hyperthyroidism, hypernatremia, hypoosmolar urine and a decreased plasma vasopressin level. The occurrence of central diabetes insipidus with hyperthyroidism was revealed on the basis of pituitary magnetic resonance imaging, a water deprivation test and a desmopressin test. The clinical co-existence of diabetes insipidus and hyperthyroidism is very rare; however, the complication should be considered when hypernatremia and/or dehydration progress in patients with Graves's disease as a common autoimmune-related etiology.

  11. Pituitary apoplexy precipitating diabetes insipidus after living donor liver transplantation.

    Science.gov (United States)

    Matsusaki, Takashi; Morimatsu, Hiroshi; Matsumi, Junya; Matsuda, Hiroaki; Sato, Tetsufumi; Sato, Kenji; Mizobuchi, Satoshi; Yagi, Takahito; Morita, Kiyoshi

    2011-02-01

    Pituitary apoplexy occurring after surgery is a rare but life-threatening acute clinical condition that follows extensive hemorrhagenous necrosis within a pituitary adenoma. Pituitary apoplexy has been reported to occur spontaneously in the majority of cases or in association with various inducing factors. Reported is a case of pituitary apoplexy complicated by diabetes insipidus following living donor liver transplantation (LDLT). To the best of our knowledge, this has not been previously reported. A 56-year-old woman with nonalcoholic steatohepatitis underwent LDLT from her daughter. The patient also required dopamine support and transfusions because of massive intraoperative bleeding. Postoperatively, her coagulopathy continued, and she underwent a second laparotomy because of unknown bleeding on postoperative day 7, when she needed transfusions and dopamine support to maintain her vital signs. She complained of severe headache, excessive thirst, frequent urination, and diplopia from postoperative day 10. She also had polyuria greater than 300 ml/h and was diagnosed with pituitary apoplexy precipitating diabetes insipidus on postoperative day 13. She was treated conservatively without surgery because of the hormonally inactive status and slight mass effect of her tumor. It is important for anesthesiologists and critical care personnel in LDLT settings to take into consideration this complication as a differential diagnosis.

  12. [Congenital nephrogenic diabetes insipidus: about a case report].

    Science.gov (United States)

    Esselmani, Hicham; Yassine, Asmaa; Bouabdellah, Mounya; Benchekroun, Laila; Handor, Najat; Elalami, Sanae; Chabraoui, Layachi

    2013-01-01

    Congenital nephrogenic diabetes insipidus is a rare, hereditary in nature, characterized by an inability of the kidney to concentrate urine, secondary to the manifold resistance to the action of vasopressin. X-linked forms of transmission (90%) are expressed in boys, from the neonatal period in general, by polyuria and polydipsia. Symptomatology in transmissive girls is variable but can sometimes be quite marked. These forms are secondary to mutations in the gene encoding the vasopressin V2 receptor, located at position Xq28, responsible for a loss of function of this receptor. Some of these mutations may cause a partial phenotype, less severe. Forms of autosomal, recessive or dominant are more rare (10%). Treatment is symptomatic, sometimes difficult in infants. It aims to avoid episodes of dehydration. It is based on a conventional diet hypo-osmotic and administration of hydrochlorothiazide and indomethacin. We report here the case of a child with congenital nephrogenic diabetes insipidus hospitalized at Children's Hospital of Rabat and throughout this case we review the pathophysiology and clinical and biological characteristics of the disease and including importance of contribution of clinical biochemistry laboratory in the diagnosis and monitoring of this disease.

  13. [Etiological diagnosis of central diabetes insipidus: about 41 cases].

    Science.gov (United States)

    Chaker, Fatma; Chihaoui, Melika; Yazidi, Meriem; Slimane, Hedia

    2016-01-01

    The occurrence of polyuria-polydipsia syndrome with hypotonic urine requires careful diagnostic strategy. This study aims to evaluate diagnostic modalities for central diabetes insipidus. We conducted a retrospective study of 41 cases with central diabetes insipidus (CDI). Data were collected at the Department of Endocrinology, University Hospital La Rabta, Tunis, from 1990 to 2013. We identified the circumstances for detecting CDI, the abnormalities in anterior pituitary assessment and pituitary imaging. CDI occurred in the postoperative period in 20 patients. The average urine 24-hour volume was significantly higher in patients with CDI outside a surgical setting. Water deprivation test was successful in all patients who benefited from it. Outside of neurosurgery, infiltration causes were found in 6 patients and tumor causes were found in 6 patients. CDI was associated with empty sella turcica in 1 case and idiopathic sella turcica in 3 patients. Hypothalamic-pituitary magnetic resonance imaging and anterior pituitary balance sheet are systematic outside pituitary surgery setting and obvious primary polydipsia.

  14. Rare neonatal diabetes insipidus and associated late risks: Case report

    Directory of Open Access Journals (Sweden)

    Rivas-Crespo Maximiliano

    2012-05-01

    Full Text Available Abstract Background Most cases of neonatal central diabetes insipidus are caused by an injury, which often results in other handicaps in the patient. The infant’s prognosis will be determined by his or her own early age and disability as well as by the physician’s skill. However, the rarity of this condition prevents the acquisition of personal experience dealing with it. Case Presentation A neonatal hemorrhagic stroke, caused by an aortic coarctation, caused right lower limb paresis, swallowing disability, and central diabetes insipidus in a term infant. The scant oral intake, as a consequence of his disability, caused progressive undernutrition which closed a vicious circle, delaying his development and his ability to overcome the swallowing handicap. On the other hand, nasal desmopressin absorption was blocked by several common colds, resulting in brain bleeding because of severe dehydration. This even greater brain damage hampered the improvement of swallowing, closing a second harmful circle. Moreover, a devastating central myelinolysis with quadriplegia, caused by an uncontrolled intravenous infusion, consummated a pernicious sequence, possibly unreported. Conclusions The child’s overall development advanced rapidly when his nutrition was improved by gastrostomy: This was a key effect of nutrition on his highly sensitive neurodevelopment. Besides, this case shows potential risks related to intranasal desmopressin treatment in young children.

  15. Incidence of Diabetes Insipidus in Postoperative Period among the Patients Undergoing Pituitary Tumour Surgery.

    Science.gov (United States)

    Kadir, M L; Islam, M T; Hossain, M M; Sultana, S; Nasrin, R; Hossain, M M

    2017-07-01

    Post operative complications after pituitary tumour surgery vary according to procedure. There are several surgical procedures being done such as transcranial, transsphenoidal microsurgical and transsphenoidal endoscopic approaches. One of the commonest complications is diabetes insipidus (DI). Our main objective was to find out the incidence of diabetes insipidus in post operative period among patients undergoing surgical intervention for pituitary tumour in our institute. The presence of diabetes insipidus in the postoperative period was established by measuring serum Na+ concentration, hourly urine output and urinary specific gravity to find out the incidence of diabetes insipidus in postoperative period in relation to age, gender, tumour diameter, function of tumour (i.e., either hormone secreting or not) and operative procedure used for surgical resection of pituitary tumor. As it is the most common postoperative complication so, in this study we tried to find out how many of the patients develop diabetes insipidus in postoperative period following surgical resection of pituitary tumour. This cross sectional type of observational study was carried out in the department of Neurosurgery, BSMMU from May 2014 to October 2015 on 33 consecutive patients who underwent surgical intervention for pituitary tumour for the first time. Data was collected by using a data collection sheet. The incidence of diabetes insipidus was found 23.1% of patients in diabetes insipidus (p=0.073). Regarding tumour size 30.8% and 69.2% of patients developed diabetes insipidus having tumour diameter diabetes insipidus who was operated by transsphenoidal endoscopic approach, 23.1% and 7.7% of patients developed diabetes insipidus who underwent pituitary tumour resection through transsphenoidal microscopic approach and transcranial microscopic approach respectively (p=0.432). 17.6% of patients develop DI having functioning pituitary macroadenoma and 62.5% of patients develop DI having

  16. Generalized status epilepticus associated with massive pulmonary aspiration and transient central diabetes insipidus: case report

    Directory of Open Access Journals (Sweden)

    CARVALHO MAURICIO

    2000-01-01

    Full Text Available Status epilepticus causes significant morbidity and mortality. A case of generalized status epilepticus followed by massive pulmonary aspiration, acute respiratory failure and transient central diabetes insipidus is presented. Seizures were promptly controlled, but the patient required mechanical ventilation and correction of polyuria with desmopressin acetate. During hospitalization mental status improved, diabetes insipidus spontaneously remitted and he was discharged without neurologic sequelae. The clinical and pathophysiological features of this case are discussed.

  17. MR imaging of central diabetes insipidus: a pictorial essay

    Energy Technology Data Exchange (ETDEWEB)

    Shin, Ji Hoon; Lee, Ho Kyu; Choi, Choong Gon; Suh, Dae Chul; Kim, Chang Jin; Hong, Sung Kwan [Ulsan University College of Medicine, Seoul (Korea, Republic of); Na, Dong Gyu [Sungkyunkwan University College of Medicine, Seoul (Korea, Republic of)

    2001-12-01

    Central diabetes insipidus (DI) can be the outcome of a number of diseases that affect the hypothalamic-neurohypophyseal axis. The causes of the condition can be classified as traumatic, inflammatory, or neoplastic. Traumatic causes include postoperative sella or transection of the pituitary stalk, while infectious or inflammatory causes include meningitis, lymphocytic hypophysitis, and granulomatous inflammations such as sarcoidosis and Wegener's granulomatosis. Various neoplastic conditions such as germinoma, Langerhans cell histiocytosis, metastasis, leukemic infiltration, lymphoma, teratoma, pituitary adenoma, craniopharyngioma, Rathke cleft cyst, hypothalamic glioma, and meningioma are also causes of central DI. In affected patients, careful analysis of these MR imaging features and correlation with the clinical manifestations can allow a more specific diagnosis, which is essential for treatment.

  18. Management of diabetes insipidus and adipsia in the child.

    Science.gov (United States)

    Di Iorgi, Natascia; Morana, Giovanni; Napoli, Flavia; Allegri, Anna Elsa Maria; Rossi, Andrea; Maghnie, Mohamad

    2015-06-01

    Central diabetes insipidus (CDI) is a complex and heterogeneous clinical syndrome affecting the hypothalamic-neurohypophyseal network and water balance. A recent national surveillance in Denmark showed a prevalence rate of twenty-three CDI patients per 100,000 inhabitants in five years. The differential diagnosis between several presenting conditions with polyuria and polydipsia is puzzling, and the etiological diagnosis of CDI remains a challenge before the identification of an underlying cause. For clinical practice, a timely diagnosis for initiating specific treatment in order to avoid central nervous system damage, additional pituitary defects and the risk of dissemination of germ cell tumor is advisable. Proper etiological diagnosis can be achieved via a series of steps that start with careful clinical observation of several signs and endocrine symptoms and then progress to more sophisticated imaging tools. This review summarizes the best practice and approach for the diagnosis and treatment of patients with CDI. Copyright © 2015 Elsevier Ltd. All rights reserved.

  19. MR imaging of central diabetes insipidus: a pictorial essay

    International Nuclear Information System (INIS)

    Shin, Ji Hoon; Lee, Ho Kyu; Choi, Choong Gon; Suh, Dae Chul; Kim, Chang Jin; Hong, Sung Kwan; Na, Dong Gyu

    2001-01-01

    Central diabetes insipidus (DI) can be the outcome of a number of diseases that affect the hypothalamic-neurohypophyseal axis. The causes of the condition can be classified as traumatic, inflammatory, or neoplastic. Traumatic causes include postoperative sella or transection of the pituitary stalk, while infectious or inflammatory causes include meningitis, lymphocytic hypophysitis, and granulomatous inflammations such as sarcoidosis and Wegener's granulomatosis. Various neoplastic conditions such as germinoma, Langerhans cell histiocytosis, metastasis, leukemic infiltration, lymphoma, teratoma, pituitary adenoma, craniopharyngioma, Rathke cleft cyst, hypothalamic glioma, and meningioma are also causes of central DI. In affected patients, careful analysis of these MR imaging features and correlation with the clinical manifestations can allow a more specific diagnosis, which is essential for treatment

  20. Mechanisms underlying progressive polyuria in familial neurohypophysial diabetes insipidus.

    Science.gov (United States)

    Arima, H; Oiso, Y

    2010-07-01

    Familial neurohypophysial diabetes insipidus (FNDI), an autosomal dominant disorder, is mostly caused by mutations in the gene of neurophysin II (NPII), the carrier protein of arginine vasopressin (AVP). The analyses of knock-in mice expressing a mutant NPII that causes FNDI in humans demonstrated that polyuria progressed substantially in the absence of loss of AVP neurones. Morphological analyses revealed that inclusion bodies were present in the AVP neurones in the supraoptic nucleus and that the size and numbers of inclusion bodies gradually increased in parallel with the increases in urine volume. Electron microscopic analyses showed that aggregates existed in the endoplasmic reticulum (ER) of AVP neurones. These data suggest that cell death is not the primary cause of polyuria in FNDI, and that the aggregate formation in the ER is likely to be related to the pathogenesis of the progressive polyuria.

  1. Diabetes insipidus and hypopituitarism in HIV: an unexpected cause

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    Carlos Tavares Bello

    2017-05-01

    Full Text Available Central diabetes insipidus (DI is a rare clinical entity characterized by low circulating levels of antidiuretic hormone (ADH presenting with polyuria and volume depletion. Pituitary surgery is the most common cause of central DI in adults. Pituitary and hypothalamic disease, particularly invasive neoplasms, rarely cause DI, being idiopathic cases responsible for the majority of non-surgical cases. HIV patients, especially those with poor virulogical control, are prone to the development of CNS neoplasms, particularly lymphomas. These neoplasms usually become manifest with mass effects and seizures. Central DI and hypopituitarism are uncommon initial manifestations of primary CNS lymphomas. The authors describe the case of 29-year-old female, HIV-positive patient whose CNS lymphoma presented with DI.

  2. Pitfall in the Diagnosis of Diabetes Insipidus and Pregnancy

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    Melissa Sum

    2017-01-01

    Full Text Available Diabetes insipidus (DI during pregnancy and the perinatal period is an uncommon medical problem characterized by polyuria and excessive thirst. Diagnosis of DI may be overlooked in the setting of pregnancy, a time when increased water intake and urine output are commonly reported. We report two cases: one of transient DI in a young woman during her third trimester of twin pregnancy in association with acute fatty liver and hypertension and one of postpartum DI secondary to Sheehan syndrome from rupture of a splenic artery aneurysm. These cases illustrate the spectrum with which DI related to pregnancy and delivery can present and highlight the difficulty in making the diagnosis since the symptoms are often initially overlooked.

  3. Neurosarcoidosis-associated central diabetes insipidus masked by adrenal insufficiency.

    Science.gov (United States)

    Non, Lemuel; Brito, Daniel; Anastasopoulou, Catherine

    2015-01-22

    Central diabetes insipidus (CDI) is an infrequent complication of neurosarcoidosis (NS). Its presentation may be masked by adrenal insufficiency (AI) and uncovered by subsequent steroid replacement. A 45-year-old woman with a history of NS presented 2 weeks after abrupt cessation of prednisone with nausea, vomiting, decreased oral intake and confusion. She was diagnosed with secondary AI and intravenous hydrocortisone was promptly begun. Over the next few days, however, the patient developed severe thirst and polyuria exceeding 6 L of urine per day, accompanied by hypernatraemia and hypo-osmolar urine. She was presumed to have CDI due to NS, and intranasal desmopressin was administered. This eventually normalised her urine output and serum sodium. The patient was discharged improved on intranasal desmopressin and oral prednisone. AI may mask the manifestation of CDI because low serum cortisol impairs renal-free water clearance. Steroid replacement reverses this process and unmasks an underlying CDI. 2015 BMJ Publishing Group Ltd.

  4. Central diabetes insipidus following cardiopulmonary arrest in a dog.

    Science.gov (United States)

    Bellis, Tara; Daly, Meredith; Davidson, Benjamin

    2015-01-01

    To describe a clinical case of transient central diabetes insipidus (CDI) occurring post cardiopulmonary arrest (CPA) in a dog. An 8-week-old dog presented for intensive care after successful resuscitation following CPA. The patient exhibited neurologic deficits at initial presentation and over the following days developed marked polyuria, isosthenuria, and low urine osmolality. Treatment with synthetic vasopressin resulted in a reduction in urine output, increase in urine specific gravity (>50%), and increase in urine osmolality, suggesting a diagnosis of partial CDI. Clinical signs resolved over the following weeks and treatment was discontinued. CPA has been described as a cause of ischemic injury to the pituitary gland resulting in CDI in people. To the authors' knowledge, this is the first report of a dog developing transient partial CDI following CPA and successful resuscitation. © Veterinary Emergency and Critical Care Society 2015.

  5. Bartter Syndrome Type 1 Presenting as Nephrogenic Diabetes Insipidus

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    Gianluca Vergine

    2018-01-01

    Full Text Available Bartter syndrome (BS type 1 (OMIM #601678 is a hereditary salt-losing renal tubular disorder characterized by hypokalemic metabolic alkalosis, hypercalciuria, nephrocalcinosis, polyuria, recurrent vomiting, and growth retardation. It is caused by loss-of-function mutations of the SLC12A1 gene, encoding the furosemide-sensitive Na-K-Cl cotransporter. Recently, a phenotypic variability has been observed in patients with genetically determined BS, including absence of nephrocalcinosis, hypokalemia, and/or metabolic alkalosis in the first year of life as well as persistent metabolic acidosis mimicking distal renal tubular acidosis. We report the case of a child with a genetically determined diagnosis of Bartter syndrome type 1 who presented with a phenotype of nephrogenic diabetes insipidus, with severe hypernatremia and urinary concentrating defect. In these atypical cases, molecular analysis is mandatory to define the diagnosis, in order to establish the correct clinical and therapeutic management.

  6. Bartter Syndrome Type 1 Presenting as Nephrogenic Diabetes Insipidus.

    Science.gov (United States)

    Vergine, Gianluca; Fabbri, Elena; Pedini, Annalisa; Tedeschi, Silvana; Borsa, Niccolò

    2018-01-01

    Bartter syndrome (BS) type 1 (OMIM #601678) is a hereditary salt-losing renal tubular disorder characterized by hypokalemic metabolic alkalosis, hypercalciuria, nephrocalcinosis, polyuria, recurrent vomiting, and growth retardation. It is caused by loss-of-function mutations of the SLC12A1 gene, encoding the furosemide-sensitive Na-K-Cl cotransporter. Recently, a phenotypic variability has been observed in patients with genetically determined BS, including absence of nephrocalcinosis, hypokalemia, and/or metabolic alkalosis in the first year of life as well as persistent metabolic acidosis mimicking distal renal tubular acidosis. We report the case of a child with a genetically determined diagnosis of Bartter syndrome type 1 who presented with a phenotype of nephrogenic diabetes insipidus, with severe hypernatremia and urinary concentrating defect. In these atypical cases, molecular analysis is mandatory to define the diagnosis, in order to establish the correct clinical and therapeutic management.

  7. Post-operative diabetes insipidus after endoscopic transsphenoidal surgery.

    Science.gov (United States)

    Schreckinger, Matthew; Walker, Blake; Knepper, Jordan; Hornyak, Mark; Hong, David; Kim, Jung-Min; Folbe, Adam; Guthikonda, Murali; Mittal, Sandeep; Szerlip, Nicholas J

    2013-12-01

    Diabetes insipidus (DI) after endoscopic transsphenoidal surgery (ETSS) can lead to increased morbidity, longer hospital stays, and increased medication requirements. Predicting which patients are at high risk for developing DI can help direct services to ensure adequate care and follow-up. The objective of this study was to review our institution's experience with ETSS and determine which clinical/laboratory variables are associated with DI in this patient population. The authors wanted to see if there was an easily determined single value that would help predict which patients develop DI. This represents the largest North American series of this type. We retrospectively reviewed the charts of patients who had undergone ETSS for resection of sellar and parasellar pathology between 2006 and 2011. We examined patient and tumor characteristics and their relationship to postoperative DI. Out of 172 endoscopic transsphenoidal surgeries, there were 15 cases of transient DI (8.7%) and 14 cases of permanent DI (8.1%). Statistically significant predictors of postoperative DI (p 1-deamino-8-D-arginine vasopressin. An increase in serum sodium of ≥2.5 mmol/L is a positive marker of development of DI with 80% specificity, and a postoperative serum sodium of ≥145 mmol/L is a positive indicator with 98% specificity. Identifying perioperative risk factors and objective indicators of DI after ETSS will help physicians care for patients postoperatively. In this large series, we demonstrated that there were multiple perioperative risk factors for the development of DI. These findings, which are consistent with other reports from microscopic surgical series, will help identify patients at risk for diabetes insipidus, aid in planning treatment algorithms, and increase vigilance in high risk patients.

  8. Clinical characteristics of central diabetes insipidus in Taiwanese children.

    Science.gov (United States)

    Liu, Shih-Yao; Tung, Yi-Ching; Lee, Cheng-Ting; Liu, Hon-Man; Peng, Shinn-Forng; Wu, Mu-Zon; Kuo, Meng-Fai; Tsai, Wen-Yu

    2013-10-01

    Data on the clinical features of children with central diabetes insipidus (CDI) are lacking in Taiwan. This study investigated the clinical manifestations and etiology of CDI in Taiwanese children. From 1983 to 2012, 62 children with permanent diabetes insipidus were enrolled in the study. They were diagnosed at the Department of Pediatrics of National Taiwan University Hospital. Their medical records were thoroughly reviewed and their clinical symptoms and signs, laboratory data, and etiologies were analyzed. The patients' median age at diagnosis was 10 years and the median interval between initial manifestations and diagnosis was 0.5 years. The most common symptoms and signs were polyuria, polydipsia, nocturia, and growth retardation. Most patients had low urine osmolality and elevated plasma osmolality on diagnosis. Absence of a posterior pituitary hyperintense signal and thickening of the pituitary stalk were common findings on magnetic resonance imaging. Approximately 80% of the patients had anterior pituitary hormone deficiency and all patients had growth hormone deficiency. Approximately 60% of patients had intracranial lesions, the most common causes of which were germ cell tumor and Langerhans cell histiocytosis. Two patients were initially believed to have idiopathic CDI but intracranial lesions were detected during the follow-up period. Because a delayed diagnosis of CDI is common in Taiwanese children, a high index of suspicion is important. The underlying etiology of CDI in children may not initially be obvious. Long-term surveillance is therefore necessary, especially for the early detection of evolving treatable intracranial lesions. Copyright © 2013. Published by Elsevier B.V.

  9. Diabetes insipidus-like state complicating percutaneous transluminal renal stenting for transplant renal artery stenosis.

    Science.gov (United States)

    Tian, Lu; He, Yangyan; Zhang, Hongkun; Wu, Ziheng; Li, Donglin; Chen, Shanwen

    2014-07-01

    To report the incidence, etiology, and treatments of diabetes insipidus-like state that complicate percutaneous transluminal renal stenting (PTRS) for transplant renal artery stenosis (TRAS). Data from 7 patients on whom PTRS for TRAS was performed between October 2008 and March 2012 were reviewed retrospectively. The parameters investigated included blood flow velocity, blood pressure, and creatinine levels before and after the intervention. The procedural success rate was 100%. Three cases developed a diabetes insipidus-like state in the immediate postprocedural period. Urine output returned to normal within 2 weeks after treatment. The median blood flow velocity was significantly reduced from 4.51 m/sec (4.31-4.61 m/sec) at the time of TRAS diagnosis to 1.33 m/sec (1.31-1.51 m/sec) at the most recent follow-up of the group with a diabetes insipidus-like state. The ratio of median blood flow velocity before and after stenting in the group with a diabetes insipidus-like state was significantly higher than that in the group without a diabetes insipidus-like state (3.39 vs. 1.93). Diabetes insipidus-like state that complicates PTRS for TRAS is not an uncommon event, but appears to be underreported in the medical literature. A high ratio of pre- and poststenting median blood flow velocity may be a predictor for a postprocedural diabetes insipidus-like state. The most probable cause may be the marked increase in renal arterial flow. Early recognition of the condition is essential to avoid dehydration and electrolyte imbalance. Copyright © 2014 Elsevier Inc. All rights reserved.

  10. Diabetes insipidus: celebrating a century of vasopressin therapy.

    Science.gov (United States)

    Qureshi, Sana; Galiveeti, Sneha; Bichet, Daniel G; Roth, Jesse

    2014-12-01

    Diabetes mellitus, widely known to the ancients for polyuria and glycosuria, budded off diabetes insipidus (DI) about 200 years ago, based on the glucose-free polyuria that characterized a subset of patients. In the late 19th century, clinicians identified the posterior pituitary as the site of pathology, and pharmacologists found multiple bioactivities there. Early in the 20th century, the amelioration of the polyuria with extracts of the posterior pituitary inaugurated a new era in therapy and advanced the hypothesis that DI was due to a hormone deficiency. Decades later, a subset of patients with polyuria unresponsive to therapy were recognized, leading to the distinction between central DI and nephrogenic DI, an early example of a hormone-resistant condition. Recognition that the posterior pituitary had 2 hormones was followed by du Vigneaud's Nobel Prize winning isolation, sequencing, and chemical synthesis of oxytocin and vasopressin. The pure hormones accelerated the development of bioassays and immunoassays that confirmed the hormone deficiency in vasopressin-sensitive DI and abundant levels of hormone in patients with the nephrogenic disorder. With both forms of the disease, acquired and inborn defects were recognized. Emerging concepts of receptors and of genetic analysis led to the recognition of patients with mutations in the genes for 1) arginine vasopressin (AVP), 2) the AVP receptor 2 (AVPR2), and 3) the aquaporin 2 water channel (AQP2). We recount here the multiple skeins of clinical and laboratory research that intersected frequently over the centuries since the first recognition of DI.

  11. Mice deficient for ERAD machinery component Sel1L develop central diabetes insipidus.

    Science.gov (United States)

    Bichet, Daniel G; Lussier, Yoann

    2017-10-02

    Deficiency of the antidiuretic hormone arginine vasopressin (AVP) underlies diabetes insipidus, which is characterized by the excretion of abnormally large volumes of dilute urine and persistent thirst. In this issue of the JCI, Shi et al. report that Sel1L-Hrd1 ER-associated degradation (ERAD) is responsible for the clearance of misfolded pro-arginine vasopressin (proAVP) in the ER. Additionally, mice with Sel1L deficiency, either globally or specifically within AVP-expressing neurons, developed central diabetes insipidus. The results of this study demonstrate a role for ERAD in neuroendocrine cells and serve as a clinical example of the effect of misfolded ER proteins retrotranslocated through the membrane into the cytosol, where they are polyubiquitinated, extracted from the ER membrane, and degraded by the proteasome. Moreover, proAVP misfolding in hereditary central diabetes insipidus likely shares common physiopathological mechanisms with proinsulin misfolding in hereditary diabetes mellitus of youth.

  12. Suprasellar ganglioglioma presenting with diabetes insipidus in a young boy: a rare clinical presentation.

    Science.gov (United States)

    Gupta, Ruchika; Suri, Vaishali; Arora, Raman; Sharma, Mehar C; Mishra, Shashwat; Singh, Manmohan; Sarkar, Chitra

    2010-02-01

    Gangliogliomas are rare tumors composed of an admixture of glial and neuronal components. These usually occur in young patients, who present with therapy-resistant seizures. Clinical presentation of ganglioglioma with diabetes insipidus is extremely rare with only one case reported earlier in the available literature. Due to this rarity, ganglioglioma is not considered in the differential diagnosis in a patient with diabetes insipidus. A 7-year boy presented with polyuria, polydipsia, and progressive visual loss for 18 months. Investigations revealed diabetes insipidus. Radiographic studies of the brain showed a solid and cystic mass in the suprasellar region effacing the third ventricle. Intraoperatively, diffuse thickening of bilateral optic nerves and optic chiasma was noted and a diagnosis of optic glioma was considered. A biopsy of the mass was taken, which on histopathological examination showed features of ganglioglioma. The patient was referred for further radiotherapy but was lost to follow-up. Diabetes insipidus as a presenting symptom of ganglioglioma is extremely rare. This benign tumor should be kept in mind in patients with central diabetes insipidus and a suprasellar mass lesion. This report describes the second such case in the literature.

  13. Hyperosmolar nonketotic coma precipitated by lithium-induced nephrogenic diabetes insipidus.

    Science.gov (United States)

    Azam, H.; Newton, R. W.; Morris, A. D.; Thompson, C. J.

    1998-01-01

    A 45-year-old man, with a 10-year history of manic depression treated with lithium, was admitted with hyperosmolar, nonketotic coma. He gave a five-year history of polyuria and polydipsia, during which time urinalysis had been negative for glucose. After recovery from hyperglycaemia, he remained polyuric despite normal blood glucose concentrations; water deprivation testing indicated nephrogenic diabetes insipidus, likely to be lithium-induced. We hypothesize that when this man developed type 2 diabetes, chronic polyuria due to nephrogenic diabetes insipidus was sufficient to precipitate hyperosmolar dehydration. PMID:9538487

  14. Normal MR appearances of the posterior pituitary in central diabetes insipidus associated with septo-optic dysplasia

    International Nuclear Information System (INIS)

    Abernethy, L.J.; Qunibi, M.A.; Smith, C.S.

    1997-01-01

    Magnetic resonance (MR) imaging of the pituitary in children with central diabetes insipidus usually shows absence of the normal high signal within the posterior gland. The high signal of the normal posterior pituitary is thought to be due to the presence of intra- cellular storage granules of vasopressin. MR imaging has been advocated as a useful investigation to aid in the distinction between central diabetes insipidus and other causes of thirst and polydipsia. We report the case of an infant with central diabetes insipidus in association with septo-optic dysplasia in whom MR imaging showed normal appearances of the posterior pituitary. The mechanism of central diabetes insipidus in this case may be related to a failure of hypothalamic function affecting osmoreception, rather than to a deficiency of vasopressin. Normal MR appearances of the pituitary do not exclude central diabetes insipidus in infants with midline cerebral malformations. (orig.). With 1 fig

  15. Normal MR appearances of the posterior pituitary in central diabetes insipidus associated with septo-optic dysplasia

    Energy Technology Data Exchange (ETDEWEB)

    Abernethy, L.J. [Dept. of Radiology, Royal Liverpool Children`s Hospital, Liverpool (United Kingdom); Qunibi, M.A. [Depts. of Radiology and Child Health, Royal Liverpool Children`s Hospital, Liverpool (United Kingdom); Smith, C.S. [Depts. of Radiology and Child Health, Royal Liverpool Children`s Hospital, Liverpool (United Kingdom)

    1997-01-01

    Magnetic resonance (MR) imaging of the pituitary in children with central diabetes insipidus usually shows absence of the normal high signal within the posterior gland. The high signal of the normal posterior pituitary is thought to be due to the presence of intra- cellular storage granules of vasopressin. MR imaging has been advocated as a useful investigation to aid in the distinction between central diabetes insipidus and other causes of thirst and polydipsia. We report the case of an infant with central diabetes insipidus in association with septo-optic dysplasia in whom MR imaging showed normal appearances of the posterior pituitary. The mechanism of central diabetes insipidus in this case may be related to a failure of hypothalamic function affecting osmoreception, rather than to a deficiency of vasopressin. Normal MR appearances of the pituitary do not exclude central diabetes insipidus in infants with midline cerebral malformations. (orig.). With 1 fig.

  16. Central Adrenal Insufficiency and Diabetes Insipidus Misdiagnosed as Severe Depression

    Directory of Open Access Journals (Sweden)

    Naoki Hiroi

    2010-01-01

    Full Text Available A 68 year-old Japanese man, who had been suffering from immobilization and disuse syndrome, was admitted to our hospital for evaluation of polyuria with polyposia, hyponatremia and low blood pressure. His plasma osmolality was greater than that of his urine. His endocrinological examination revealed low levels of plasma adrenocorticotropic hormone (ACTH and cortisol, and a normal response of ACTH to the corticotrophin-releasing hormone (CRH challenge. Plasma ACTH did not increase with insulin loading. A low plasma vasopressin (AVP level and no response of AVP to a 5% saline administration were observed. We diagnosed central adrenal insufficiency with central diabetes insipidus. Six months after starting administration of hydrocortisone and 1-deamino-8D-arginine vasopressin, his psychological symptoms had improved, and 1.5 years after starting treatment, he was able to walk. In conclusion, it is not particularly rare for adrenal insufficiency to be misdiagnosed as depression. However, a correct early diagnosis is necessary, because, if adrenal insufficiency is not definitively diagnosed, the patient's quality of life diminishes markedly.

  17. Central pontine myelinolysis secondary to hypokalaemic nephrogenic diabetes insipidus.

    LENUS (Irish Health Repository)

    Davenport, C

    2010-01-01

    Central pontine myelinolysis (CPM) has been described in alcoholic patients and in the aftermath of rapid correction of chronic hyponatraemia. We describe a case of CPM occurring secondary to nephrogenic diabetes insipidus (DI), which developed as a consequence of severe hypokalaemia. A 63-year-old man with alcohol dependence was admitted to hospital with severe pulmonary sepsis and type 1 respiratory failure. On admission, he had euvolaemic hyponatraemia of 127 mmol\\/L, consistent with a syndrome of inappropriate antidiuretic hormone secondary to his pneumonia. Following admission, his plasma potassium dropped from 3.2 to a nadir of 2.3 mmol\\/L. Mineralocorticoid excess, ectopic adrenocorticotrophic hormone production and other causes of hypokalaemia were excluded. The hypokalaemia provoked significant hypotonic polyuria and a slow rise in plasma sodium to 161 mmol\\/L over several days. Plasma glucose, calcium and creatinine were normal. The polyuria did not respond to desmopressin, and subsequent correction of his polyuria and hypernatraemia after normalization of plasma potassium confirmed the diagnosis of nephrogenic DI due to hypokalaemia. The patient remained obtunded, and the clinical suspicion of osmotic demyelination was confirmed on magnetic resonance imaging. The patient remained comatose and passed away 10 days later. This is the first reported case of nephrogenic DI resulting in the development of CPM, despite a relatively slow rise in plasma sodium of less than 12 mmol\\/L\\/24 h. Coexisting alcohol abuse, hypoxaemia and hypokalaemia may have contributed significantly to the development of CPM in this patient.

  18. Familial neurohypophyseal diabetes insipidus associated with a signal peptide mutation

    Energy Technology Data Exchange (ETDEWEB)

    McLeod, J.F.; Gaskill, M.B.; Bradley, G.S.; Robertson, G.L. (Northwestern Univ. Medical School, Chicago, IL (United States)); Kovacs, L. (Comenius Univ. Medical School, Bratislava (Slovakia)); Rittig, S. (Univ. of Aarhus, Aarhus (Denmark))

    1993-09-01

    The authors studied the pathophysiology, natural history, and genetic basis of familial neurohypophyseal diabetes insipidus (FNDI) in a caucasian kindred. Twelve members had polyuria and a deficiency of plasma vasopressin (AVP), which progressed in severity over time. Another had normal urine volumes and plasma AVP when first tested at age 3 yr, but developed severe FNDI a year later. For unknown reasons, one man had a normal urine volume despite severe AVP deficiency and a history of polyuria in the past. When the AVP-neurophysin-II gene was amplified and sequenced, exon 2/3 was normal, but 7 of 12 clones of exon 1 contained a base substitution (G[yields]A) predicting a substitution of threonine for alanine at the -1 position of the signal peptide. Restriction analysis found the mutation in all 14 affected members, but in none of the 41 controls of 19 adult members with normal urine volumes and plasma or urinary AVP (lod score = 5.7). The mutation was also found in 2 infants in whom AVP was normal when tested at 6 and 9 months of age. We hypothesize that a mutation in exon 1 of the AVP-neurophysin-II gene caused FNDI in this kindred by making an abnormally processed precursor that gradually destroys vasopressinergic neurons. 46 refs., 6 figs.

  19. Temporary diabetes insipidus in 2 men after on-pump coronary artery bypass grafting.

    Science.gov (United States)

    Uyar, Ihsan Sami; Sahin, Veysel; Akpinar, Besir; Yurtman, Volkan; Abacilar, Feyzi; Okur, Faik Fevzi; Ates, Mehmet

    2013-01-01

    Many complications have been reported after cardiopulmonary bypass. A common physiologic change during the early postoperative period after cardiopulmonary bypass is increased diuresis. In patients whose urine output is increased, postoperative diabetes insipidus can develop, although reports of this are rare. We present the cases of 2 patients who underwent on-pump coronary artery bypass grafting (with cardiopulmonary bypass). Each was diagnosed with diabetes insipidus postoperatively: a 54-year-old man on the 3rd day, and a 66-year-old man on the 4th day. Each patient recovered from the condition after 6 hours of intranasal therapy with synthetic vasopressin (antidiuretic hormone). The diagnosis of diabetes insipidus should be considered in patients who produce excessive urine early after cardiac surgery in which cardiopulmonary bypass has been used.

  20. A case of primary aldosteronism combined with acquired nephrogenic diabetes insipidus

    Directory of Open Access Journals (Sweden)

    Kitae Kim

    2014-12-01

    Full Text Available Aldosterone-producing adrenal adenoma can induce various clinical manifestations as a result of chronic exposure to aldosterone. We report a rare case of a 37-year-old man who complained of general weakness and polyuria. He was diagnosed with aldosterone-producing adrenal adenoma and nephrogenic diabetes insipidus. Aldosterone enhances the secretion of potassium in the collecting duct, which can lead to hypokalemia. By contrast, nephrogenic diabetes insipidus, which manifests as polyuria and polydipsia, can occur in several clinical conditions such as acquired tubular disease and those attributed to toxins and congenital causes. Among them, hypokalemia can also damage tubular structures in response to vasopressin. The patient’s urine output was >3 L/d and was diluted. Owing to the ineffectiveness of vasopressin, we eventually made a diagnosis of nephrogenic diabetes insipidus. Laparoscopic adrenalectomy and intraoperative kidney biopsy were subsequently performed. The pathologic finding of kidney biopsy revealed a decrease in aquaporin-2 on immunohistochemical stain.

  1. Monostotic Langerhans' cell histiocytosis in a child with central diabetes insipidus.

    Science.gov (United States)

    Soares, Eduardo Costa Studart; Quidute, Ana Rosa Pinto; Costa, Fábio Wildson Gurgel; Gurgel, Maria Helane Costa; Alves, Ana Paula Negreiros Nunes; Fonteles, Cristiane Sá Roriz

    2012-01-01

    Langerhans'cell histiocytosis (LCH) comprises a rare group of reticuloendothelial system disorders that can produce focal or systemic manifestations. Diabetes insipidus is considered to be an important indicator of serious underlying diseases in children, including LCH. We report the case of a young patient with monostotic LCH confined to the mandibular ramus, who was diagnosed with the disease after presenting symptoms of central diabetes insipidus and was satisfactorily treated with multi-agent chemotherapy. Additionally, we discuss the clinical, radiographic, histological and immunohistochemical findings, as well as the multidisciplinary approach of this important disease, which should receive attention by dental practitioners, especially when it occurs in children.

  2. Partial nephrogenic diabetes insipidus caused by a novel mutation in the AVPR2 gene

    DEFF Research Database (Denmark)

    Færch, Mia; Christensen, Jane H; Corydon, Thomas J

    2008-01-01

    and polyuria since infancy. Initial clinical testing confirmed a diagnosis of diabetes insipidus (DI). Urine osmolarity rose during fluid deprivation and after 20 microg of intranasal desmopressin [1-deamino-8-d-arginine-vasopressin (dDAVP)]. A similar DI phenotype was found in his brother. Methods The coding......Objective To identify the molecular basis and clinical characteristics of X-linked congenital nephrogenic diabetes insipidus (CNDI) presenting with an unusual phenotype characterized by partial resistance to AVP. Subjects The proband was admitted at the age of 4 years with a history of polydipsia...

  3. Diabetes insipidus as a presenting manifestation of Rathke′s cleft cyst

    Directory of Open Access Journals (Sweden)

    Manoj Kumar

    2013-01-01

    Full Text Available Rathke′s cleft cysts (RCC are cystic sellar and suprasellar lesions derived from remnants of Rathke′s pouch, lined by cuboidal or columnar epithelium. RCC are usually asymptomatic but can present with headache, visual impairment, panhypopituitarism and hypothalamic dysfunction. Diabetes Insipidus as a presenting symptom of RCC is reported, but rare. We present a case of a 48-year-old male presenting with polyuria and on investigations found to have central diabetes insipidus due to a sellar RCC. Patient underwent transsphenoidal surgery with complete excision with resolution of his symptoms. His polyuria resolved post-surgery without vasopressin replacement, which has never been reported.

  4. A history of diabetes insipidus: paving the road to internal water balance.

    Science.gov (United States)

    Eknoyan, Garabed

    2010-12-01

    Diabetes insipidus is an ancient disease considered under the rubric of diabetes, the Greek descriptive term for polyuria, which was unrecognized even after the sweetness of urine was reported as a characteristic of diabetes mellitus in the 17th century. It would be another century before diabetes insipidus was identified from the insipid rather than saccharine taste of urine in cases of polyuria. After its increased recognition, pathologic observations and experimental studies connected diabetes insipidus to the pituitary gland in the opening decades of the 20th century. Simultaneously, posterior pituitary lobe extracts were shown to be vasoconstrictive (vasopressin) and antidiuretic (antidiuretic hormone). As vasopressin was purified and synthesized and its assay became available, it was shown to be released in response to both osmotic and volume stimuli that are integrated in the hypothalamus, and vasopressin thereby was essential to maintaining internal water balance. The antidiuretic properties of vasopressin to treat the rare cases of diabetes insipidus were of limited clinical utility until its vasoconstrictive effects were resuscitated in the 1970s, with the consequent increasing wider use of vasopressin for the treatment of compromised hemodynamic states. In addition, the discovery of antidiuretic hormone receptor blockers has led to their increasing use in managing hypo-osmolar states. Copyright © 2010 National Kidney Foundation, Inc. Published by Elsevier Inc. All rights reserved.

  5. Central diabetes insipidus: clinical profile that suggests organicity in Peruvian children: Lima - Peru 2001-2013.

    Science.gov (United States)

    De Los Santos, Miguel Angel; Águila, Carlos Manuel Del; Rojas, Maria Isabel; Falen, Juan Manuel; Nuñez, Oswaldo; Chávez, Eliana Manuela; Espinoza, Oscar Antonio; Pinto, Paola Marianella; Calagua, Martha Rosario

    2016-12-01

    Central diabetes insipidus (CDI) is a heterogeneous disease caused by arginine vasopressin deficiency; its management implies a profound understanding of the pathophysiology and the clinical spectrum. The aim of the study was to describe the clinical characteristics that indicate organicity in children and adolescents with central diabetes insipidus treated at the Department of Endocrinology from The Child Health's Institute during 2001 to 2013. Cross-sectional, retrospective study. 79 cases of patients diagnosed with CDI (51 males and 28 females) from 1 month to 16 years of age were reviewed. For the descriptive analysis, measures of central tendency and dispersion were used; groups of organic and idiopathic CDI were compared using χ2-test and t-test. A p-valuediabetes insipidus were headache and visual disturbances; furthermore, anterior pituitary hormonal abnormalities suggest an underlying organic etiology.

  6. Central diabetes insipidus in an African Grey parrot.

    Science.gov (United States)

    Starkey, Simon R; Wood, Catherine; de Matos, Ricardo; Ledbetter, Eric C; Morrisey, James K

    2010-08-15

    A 5.5-year-old sexually intact female African Grey parrot (Psittacus erithacus) was evaluated for a 1-year history of pronounced polyuria and polydipsia. The bird also had a 1-month history of signs of mild depression and mydriasis. Physical examination revealed a thin body condition and incomplete bilateral mydriasis. Other examination findings as well as CBC and screening radiography results were unremarkable. Plasma biochemical analysis revealed mild hypernatremia. The bird had a 3.3% loss in body weight over 170 minutes during a water deprivation test, and urine osmolality remained low. After IM administration of 0.9 microg of desmopressin, the rate of weight loss decreased substantially and urine osmolality increased 300% over the following 200 minutes. Initial attempts to treat the bird with orally administered desmopressin failed to correct the polydipsia and polyuria. Ultimately, IM administration of 24 microg of desmopressin/kg (10.9 microg/lb) every 12 hours yielded a noticeable reduction in water consumption and urine production over a 6- to 8-hour period. Eight months later, the bird was returned for a recheck examination, at which time it was in good health and continued to respond to the medication. Despite continued response to the medication, right-sided internal ophthalmoparesis was detected 16 months after the initial diagnosis. To the authors' knowledge, central diabetes insipidus in birds has not been reported. The condition should be considered in birds with clinical signs of disease similar to those in mammals. Long-term IM administration of desmopressin may be a viable treatment option.

  7. Anti-PD-L1 Treatment Induced Central Diabetes Insipidus.

    Science.gov (United States)

    Zhao, Chen; Tella, Sri Harsha; Del Rivero, Jaydira; Kommalapati, Anuhya; Ebenuwa, Ifechukwude; Gulley, James; Strauss, Julius; Brownell, Isaac

    2018-02-01

    Immune checkpoint inhibitors, including anti-programmed cell death protein 1 (PD-1), anti-programmed cell death protein ligand 1 (PD-L1), and anti-cytotoxic T-lymphocyte antigen 4 (anti-CTLA4) monoclonal antibodies, have been widely used in cancer treatment. They are known to cause immune-related adverse events (irAEs), which resemble autoimmune diseases. Anterior pituitary hypophysitis with secondary hypopituitarism is a frequently reported irAE, especially in patients receiving anti-CTLA4 treatment. In contrast, posterior pituitary involvement, such as central diabetes insipidus (DI), is relatively rare and is unreported in patients undergoing PD-1/PD-L1 blockade. We describe a case of a 73-year-old man with Merkel cell carcinoma who received the anti-PD-L1 monoclonal antibody avelumab and achieved partial response. The patient developed nocturia, polydipsia, and polyuria 3 months after starting avelumab. Further laboratory testing revealed central DI. Avelumab was held and he received desmopressin for the management of central DI. Within 6 weeks after discontinuation of avelumab, the patient's symptoms resolved and he was eventually taken off desmopressin. The patient remained off avelumab and there were no signs or symptoms of DI 2 months after the discontinuation of desmopressin. To our knowledge, this is the first report of central DI associated with anti-PD-L1 immunotherapy. The patient's endocrinopathy was successfully managed by holding treatment with the immune checkpoint inhibitor. This case highlights the importance of early screening and appropriate management of hormonal irAEs in subjects undergoing treatment with immune checkpoint inhibitors to minimize morbidity and mortality. Copyright © 2017 Endocrine Society

  8. Diagnosis of diabetes insipidus observed in Swiss Duroc boars.

    Science.gov (United States)

    Grahofer, Alexander; Wiedemar, Natalie; Gurtner, Corinne; Drögemüller, Cord; Nathues, Heiko

    2016-01-29

    Diabetes insipidus (DI) is a rare disease in humans and animals, which is caused by the lack of production, malfunction or dysfunction of the distal nephron to the antidiuretic effect of the antidiuretic hormone (ADH). Diagnosis requires a thorough medical history, clinical examination and further laboratory confirmation. This case report describes the appearance of DI in five Duroc boars in Switzerland. Two purebred intact Duroc boars at the age of 8 months and 1.5 years, respectively, with a history of polyuric and polydipsic symptoms had been referred to the Swine Clinic in Berne. Based on the case history, the results of clinical examination and the analysis of blood and urine, a tentative diagnosis of DI was concluded. Finally, the diagnosis was confirmed by findings from a modified water deprivation test, macroscopic examinations and histopathology. Following the diagnosis, three genes known to be involved in inherited DI in humans were analyzed in order to explore a possible genetic background of the affected boars. The etiology of DI in pigs is supposed to be the same as in humans, although this disease has never been described in pigs before. Thus, although occurring only on rare occasions, DI should be considered as a differential diagnosis in pigs with polyuria and polydipsia. It seems that a modified water deprivation test may be a helpful tool for confirming a diagnosis in pigs. Since hereditary forms of DI have been described in humans, the occurrence of DI in pigs should be considered in breeding programs although we were not able to identify a disease associated mutation.

  9. The Value of Urine Specific Gravity in Detecting Diabetes Insipidus in a Patient with Uncontrolled Diabetes Mellitus: Urine Specific Gravity in Differential Diagnosis

    OpenAIRE

    Akarsu, Ersin; Buyukhatipoglu, Hakan; Aktaran, Sebnem; Geyik, Ramazan

    2006-01-01

    When a patient with diabetes mellitus presents with worsening polyuria and polydipsia, what is a sensible, cost-effective approach? We report the unique coincidence of type 2 diabetes mellitus and diabetes insipidus. A 46-year-old woman with poorly controlled type 2 diabetes complained of polyuria with a daily output of 5 L. Although urinalysis demonstrated significant glucosuria, diabetes insipidus was suspected owing to a low urine specific gravity (1.008). The low specific gravity persiste...

  10. [Influence of preventive use of vasopressin tannate on diabetes insipidus and serum sodium at the early postoperation of craniopharyngioma].

    Science.gov (United States)

    Xiong, Tao; Wanggou, Siyi; Li, Xuejun; Liu, Qing; Jiang, Xingjun; Peng, Zefeng; Yuan, Xianrui

    2016-10-28

    To explore the influence of preventive use of vasopressin tannate on diabetes insipidus and serum sodium at the early postoperation of craniopharyngioma.
 Methods: The data of 83 patients, who underwent unilateral sub-frontal approach resection of craniopharyngioma between 2010 and 2014 by the same senior neurosurgeon, were retrospectively analyzed. The patients were divided into a vasopressin tannate group (used group) and a control group. The diabetes insipidus and serum sodium changes were compared between the two groups.
 Results: Compared with the control group, the incidence of diabetes insipidus decreased at the early postoperation in the vasopressin tannate group (Pcraniopharyngioma.

  11. Hemorrhagic fever with renal syndrome accompanied by panhypopituitarism and central diabetes insipidus: a case report.

    Science.gov (United States)

    Ahn, Hee Jung; Chung, Jong-Hoon; Kim, Dong-Min; Yoon, Na-Ra; Kim, Choon-Mee

    2018-03-05

    Central diabetes insipidus (DI) was detected in a patient with hemorrhagic fever with renal syndrome (HFRS) who had been molecularly and serologically diagnosed with Hantaan virus infection. We recommend that clinicians differentiate central DI in HFRS patients with a persistent diuretic phase even when pituitary MRI findings are normal.

  12. Vasopressin-related peptides increase the hippocampal corticosterone receptor capacity of diabetes insipidus (Brattleboro) rats

    NARCIS (Netherlands)

    Veldhuis, H D; de Kloet, E R

    The binding of [3H]corticosterone to receptors in cytosol of several brain regions and of [3H]dexamethasone to receptors in pituitary cytosol was measured after chronic treatment of homozygous diabetes insipidus rats (Ho-Di) with various neuropeptides. All rats were adrenalectomized 24 h before

  13. Gestational diabetes insipidus, HELLP syndrome and eclampsia in a twin pregnancy: a case report.

    Science.gov (United States)

    Woelk, J L; Dombroski, R A; Brezina, P R

    2010-02-01

    We report a case of eclampsia in a twin pregnancy complicated by HELLP syndrome and diabetes insipidus. This confluence of disease processes suggests that a modification of common magnesium sulfate treatment protocols may be appropriate in a certain subset of patients.

  14. Severe hydramnios and preterm delivery in association with transient maternal diabetes insipidus.

    Science.gov (United States)

    Weinberg, Lori E; Dinsmoor, Mara J; Silver, Richard K

    2010-08-01

    Diabetes insipidus is rare in pregnancy. It is characterized by hypoosmolar polyuria and may be central, nephrogenic, or transient in etiology; the latter is presumably related to excess placental vasopresinase production. In theory, fetal effects of this endocrine condition may include hydramnios secondary to fetal polyuria. A pregnant patient developed rapid-onset second-trimester hydramnios that prompted a thorough fetal and maternal evaluation. She ultimately was diagnosed with transient diabetes insipidus of pregnancy because of an abrupt change in her voiding pattern at 20 weeks of gestation, significant polydipsia, and laboratory studies that revealed a hypoosmolar polyuria with normal serum and urine electrolytes. Transient neonatal polyuria also was confirmed in association with this unique maternal endocrine syndrome. The most likely cause of hydramnios in this case is transient maternal diabetes insipidus of pregnancy from excessive secretion of placental vasopressinase resulting in fetal polyuria. In cases of hydramnios of unknown etiology, if a history of maternal polyuria is elicited and confirmed, diabetes insipidus of pregnancy may play a role in some cases.

  15. Amiloride blocks lithium entry through the sodium channel thereby attenuating the resultant nephrogenic diabetes insipidus.

    NARCIS (Netherlands)

    Kortenoeven, M.L.A.; Li, Y.; Shaw, S.M.; Gaeggeler, H.P.; Rossier, B.C.; Wetzels, J.F.M.; Deen, P.M.T.

    2009-01-01

    Lithium therapy frequently induces nephrogenic diabetes insipidus; amiloride appears to prevent its occurrence in some clinical cases. Amiloride blocks the epithelial sodium channel (ENaC) located in the apical membrane of principal cells; hence one possibility is that ENaC is the main entry site

  16. Central diabetes insipidus preceding acute myeloid leukemia with t(3;12)(q26;p12)

    NARCIS (Netherlands)

    Nieboer, P; Vellenga, E; Adriaanse, R; van de Loosdrecht, AA

    A 52-year-old woman presented with polyuria and polydipsia. ii diagnosis of central diabetes insipidus (DI) was made, which turned out to be the first sign of acute myeloid leukemia (AML). Cytogenetic analysis revealed a balanced translocation between chromosome 3 and 12 t(3;12)(q26;p12). The

  17. Efficacy of COX-2 inhibitors in a case of congenital nephrogenic diabetes insipidus.

    NARCIS (Netherlands)

    Soylu, A.; Kasap, B.; Ogun, N.; Ozturk, Y.; Turkmen, M.; Hoefsloot, L.H.; Kavukcu, S.

    2005-01-01

    A 17-month-old boy presented with failure to thrive, polyuria, and vomiting. He had been diagnosed clinically with nephrogenic diabetes insipidus and treated by amiloride and hydrochlorothiazide combination without a satisfactory outcome at another center since 1 year of age. The diagnosis was

  18. Behavioral and endocrine responses of rats with hereditary hypothalamic diabetes insipidus (Brattleboro strain)

    NARCIS (Netherlands)

    Bohus, B.; Wimersma Greidanus, T.B. van; Wied, D. de

    Behavioral and endocrine profiles were established of homozygous (HO-DI) and heterozygous (HE-DI) rats with hereditary hypothalamic diabetes insipidus in comparison to Wistar strain rats. HO-DI rats were inferior in acquiring and maintaining active and passive avoidance behavior. Behavioral deficits

  19. Concurrent central diabetes insipidus and panhypopituitarism in a German shepherd dog.

    Science.gov (United States)

    Ramsey, I K; Dennis, R; Herrtage, M E

    1999-06-01

    This report describes a German shepherd dog that was presented with proportionate dwarfism and coat changes typical of hypopituitarism but that was also profoundly polydipsic and polyuric. Investigations established a diagnosis of concurrent central diabetes insipidus. Treatment with desmopressin was successful in managing the polyuria and polydipsia.

  20. Functional characterization of AVPR2 mutants found in Turkish patients with nephrogenic diabetes insipidus.

    Science.gov (United States)

    Erdem, Beril; Schulz, Angela; Saglar, Emel; Deniz, Ferhat; Schöneberg, Torsten; Mergen, Hatice

    2018-01-01

    Diabetes insipidus is a rare disorder characterized by an impairment in water balance because of the inability to concentrate urine. While central diabetes insipidus is caused by mutations in the AVP , the reason for genetically determined nephrogenic diabetes insipidus can be mutations in AQP2 or AVPR2 After release of AVP from posterior pituitary into blood stream, it binds to AVPR2, which is one of the receptors for AVP and is mainly expressed in principal cells of collecting ducts of kidney. Receptor activation increases cAMP levels in principal cells, resulting in the incorporation of AQP2 into the membrane, finally increasing water reabsorption. This pathway can be altered by mutations in AVPR2 causing nephrogenic diabetes insipidus. In this study, we functionally characterize four mutations (R68W, ΔR67-G69/G107W, V162A and T273M) in AVPR2, which were found in Turkish patients. Upon AVP stimulation, R68W, ΔR67-G69/G107W and T273M showed a significantly reduced maximum in cAMP response compared to wild-type receptor. All mutant receptor proteins were expressed at the protein level; however, R68W, ΔR67-G69/G107W and T273M were partially retained in the cellular interior. Immunofluorescence studies showed that these mutant receptors were trapped in ER and Golgi apparatus. The function of V162A was indistinguishable from the indicating other defects causing disease. The results are important for understanding the influence of mutations on receptor function and cellular trafficking. Therefore, characterization of these mutations provides useful information for further studies addressing treatment of intracellularly trapped receptors with cell-permeable antagonists to restore receptor function in patients with nephrogenic diabetes insipidus. © 2018 The authors.

  1. Diabetes insipidus is an unfavorable prognostic factor for response to glucocorticoids in patients with autoimmune hypophysitis.

    Science.gov (United States)

    Lupi, Isabella; Cosottini, Mirco; Caturegli, Patrizio; Manetti, Luca; Urbani, Claudio; Cappellani, Daniele; Scattina, Ilaria; Martino, Enio; Marcocci, Claudio; Bogazzi, Fausto

    2017-08-01

    Autoimmune hypophysitis (AH) has a variable clinical presentation and natural history; likewise, its response to glucocorticoid therapy is often unpredictable. To identify clinical and radiological findings associated with response to glucocorticoids. 12 consecutive patients with AH, evaluated from 2008 to 2016. AH was the exclusion diagnosis after ruling out other pituitary masses and secondary causes of hypophysitis. Mean follow-up time was 30 ± 27 months (range 12-96 months). MRI identified two main patterns of presentation: global enlargement of the pituitary gland or panhypophysitis ( n  = 4, PH), and pituitary stalk abnormality only, or infundibulo-neuro-hypophysitis ( n  = 8, INH). Multiple tropin defects were more common in PH (100%) than those in INH (28% P  = 0.014), whereas diabetes insipidus was more common in INH (100%) than that in PH (50%; P  = 0.028). All 4 PH and 4 out of 8 INH were treated with glucocorticoids. Pituitary volume significantly reduced in all PH patients ( P  = 0.012), defective anterior pituitary function recovered only in the two patients without diabetes insipidus (50%) and panhypopituitarism persisted, along with diabetes insipidus, in the remaining 2 (50%). In all INH patients, either treated or untreated, pituitary stalk diameter reduced ( P  = 0.008) but diabetes insipidus persisted in all. Glucocorticoid therapy may improve anterior pituitary function in a subset of patients but has no effect on restoring posterior pituitary function. Diabetes insipidus appears as a negative prognostic factor for response to glucocorticoids. © 2017 European Society of Endocrinology.

  2. The value of urine specific gravity in detecting diabetes insipidus in a patient with uncontrolled diabetes mellitus: urine specific gravity in differential diagnosis.

    Science.gov (United States)

    Akarsu, Ersin; Buyukhatipoglu, Hakan; Aktaran, Sebnem; Geyik, Ramazan

    2006-11-01

    When a patient with diabetes mellitus presents with worsening polyuria and polydipsia, what is a sensible, cost-effective approach? We report the unique coincidence of type 2 diabetes mellitus and diabetes insipidus. A 46-year-old woman with poorly controlled type 2 diabetes complained of polyuria with a daily output of 5 L. Although urinalysis demonstrated significant glucosuria, diabetes insipidus was suspected owing to a low urine specific gravity (1.008). The low specific gravity persisted during a water deprivation test. Ultimately, diabetes insipidus was confirmed when urine specific gravity and urine osmolality normalized following desmopressin administration. This case emphasizes the importance of accurately interpreting the urine specific gravity in patients with polyuria and diabetes mellitus to detect diabetes insipidus.

  3. Diabetes insipidus due to herpes encephalitis in a patient with diffuse large cell lymphoma. A case report.

    Science.gov (United States)

    Scheinpflug, K; Schalk, E; Reschke, K; Franke, A; Mohren, M

    2006-01-01

    The major causes of central diabetes insipidus are neoplastic or infiltrative lesions of the hypothalamus or pituitary, severe head injuries and pituitary or hypothalamic surgery. Central diabetes insipidus caused by viral infections has been rarely reported in immunosuppressed patients, such as those with acquired immunodeficiency syndrome or Cushing's syndrome. We report the case of a 48-year-old woman suffering from diffuse large cell lymphoma, who developed hypotonic polyuria, hypernatriaemia and somnolence after the first course of chemotherapy with CHOEP and rituximab. Diabetes insipidus was diagnosed by low urine osmolarity and an undetectable vasopressin concentration. MRI revealed no pituitary abnormalities but encephalitis, and lumbar punction confirmed herpes zoster infection. To the best of our knowledge this is the first description of central diabetes insipidus in a lymphoma patient caused by an opportunistic CNS-infection.

  4. Wolfram syndrome (diabetes insipidus, diabetes, optic atrophy, and deafness): clinical and genetic study.

    Science.gov (United States)

    d'Annunzio, Giuseppe; Minuto, Nicola; D'Amato, Elena; de Toni, Teresa; Lombardo, Fortunato; Pasquali, Lorenzo; Lorini, Renata

    2008-09-01

    Wolfram syndrome is an autosomal recessive neurodegenerative disorder characterized by diabetes insipidus, diabetes (nonautoimmune), optic atrophy, and deafness (a set of conditions referred to as DIDMOAD). The WFS1 gene is located on the short arm of chromosome 4. Wolfram syndrome prevalence is 1 in 770,000 live births, with a 1 in 354 carrier frequency. We evaluated six Italian children from five unrelated families. Genetic analysis for Wolfram syndrome was performed by PCR amplification and direct sequencing. Mutation screening revealed five distinct variants, one novel mutation (c.1346C>T; p.T449I) and four previously described, all located in exon 8. Phenotype-genotype correlation is difficult, and the same mutation gives very different phenotypes. Severely inactivating mutations result in a more severe phenotype than mildly inactivating ones. Clinical follow-up showed the progressive syndrome's seriousness.

  5. Permanent Central Diabetes Insipidus as a Complication of S. pneumoniae Meningitis in the Pediatric Population.

    Science.gov (United States)

    Statz, Hannah; Hsu, Benson S

    2016-05-01

    Diabetes insipidus is a rare but recognized complication of meningitis. The occurrence of diabetes insidipus has been previously attributed to Streptococcus pneumoniae (S. pneumoniae) in a handful of patients and only once within the pediatric subpopulation. We present the clinical course of a previously healthy 2-year, 8-month-old male child ultimately diagnosed with central diabetes insipidus (CDI) secondary to S. pneumoniae meningitis. Permanent CDI following S. pneumoniae meningitis is unique to our case and has not been previously described. Following the case presentation, we describe the etiology, pathophysiology, diagnosis, and treatment of CDI. The mechanism proposed for this clinical outcome is cerebral herniation for a sufficient duration and subsequent ischemia leading to the development of permanent CDI. Providers should be aware of CDI resulting from S. pneumoniae meningitis as prompt diagnosis and management may decrease the risk of permanent hypothalamo-pituitary axis damage. Copyright© South Dakota State Medical Association.

  6. Diabetes insipidus as a rare cause of acute cognitive impairment in multiple sclerosis.

    Science.gov (United States)

    Tiedje, V; Schlamann, M; Führer, D; Moeller, L C

    2013-10-01

    Multiple sclerosis (MS) is a complex neurodegenerative disease presenting with a diversity of clinical symptoms including palsy and cognitive impairment. We present a 59-year-old woman with a history of secondary progressive MS since 1987, who was referred to our department because of recent onset of confusion and polydipsia. Initial lab tests showed mildly elevated serum sodium levels and low urine osmolality. Under water deprivation, diuresis and low urine osmolality persisted and serum sodium levels rose above 150 mmol/l. Oral desmopressin resulted in normalisation of serum sodium as well as urine osmolarity, confirming a diagnosis of central diabetes insipidus. As drug-induced diabetes could be excluded, pituitary magnetic resonance imaging (MRI) was performed. A demyelinating lesion was detected in the hypothalamus. The patient was started on oral desmopressin treatment (0.2 mg/day). Fluid intake and serum sodium levels have since remained normal. In summary, we report the rare case of a patient presenting with diabetes insipidus due to progressive MS. Diabetes insipidus should be considered in MS patients who develop new onset of polydipsia.

  7. Central Diabetes Insipidus Linked to Rathke's Cleft Cyst, Polyuria in a 17-year-old Girl.

    Science.gov (United States)

    Kim, Ha Yeon; Lee, Seung Jin; Bae, Eun Hui; Ma, Seong Kwon; Kim, Soo Wan

    2017-09-01

    A 17-year-old girl presented with polyuria (7 L/day) and polydipsia for one year. Initial urine osmolality was 113mOsm/kg H 2 O. Following 6 h of fluid restriction, serum plasma osmolality reached 300mOsm/kg H 2 O, whereas urine osmolality was 108mOsm/kg H 2 O. Urine osmolality was increased by 427% from 108 to 557mOsm/kg after vasopressin challenge. The patient was diagnosed with central diabetes insipidus, possibly derived from the atypical occupation of a Rathke's cleft cyst at the pituitary stalk following magnetic resonance imaging with enhancement. She was discharged with desmopressin nasal spray (10 µg); urine output was maintained at 2-3 L/day, and urine osmolality was >300 mOsm/kg. Additional pituitary image studies and evaluation of hypopituitarism should be included in the differential diagnosis of patients with central diabetes insipidus.

  8. Diabetes Insipidus and Anterior Pituitary Insufficiency Due to Breast Cancer Metastasis

    OpenAIRE

    Ayşe Arduç; Ayşe Gül Alımlı; Serdar Güler

    2016-01-01

    Metastases from breast cancer to the pituitary gland are uncommon. We present a 35-year-old woman with diabetes insipidus and anterior pituitary insufficiency resulting from breast cancer metastases to the pituitary gland. The patient presented with reduced consciousness, fatigue, polyuria, and polydipsia. Hypernatremia (sodium: 154 mmol/L), hypostenuria (urine density: 1001), and hypopituitarism were present on laboratory evaluation. Magnetic resonance imaging (MRI) revealed heterog...

  9. Identification of genetic mutations in patients with familial central diabetes insipidus

    OpenAIRE

    Francisco, Ângela Sofia Fernandes Alves

    2012-01-01

    Diabetes insipidus (DI) is associated with defects that involve the secretion and the action of hormone arginine vasopressin (AVP) resulting in the excretion of abnormally large volumes of diluted urine. The most common defect that results in disease development is the deficient secretion of the hormone AVP and the disease is referred to as central or neurohypophyseal DI. The AVP hormone is synthesized in magnocellular neurons, that originate in the supraoptic and paraventricular nuclei of th...

  10. Drugs for the treatment of central diabetes insipidus: historical background and modern opportunities

    Directory of Open Access Journals (Sweden)

    Dar'ya S. Mikhaylova

    2017-06-01

    Full Text Available Central diabetes insipidus is a severe disease with disturbance of arginine vasopressin secretion, which leads to excretion of large amounts of hypotonic urine. The polyuria-polydipsia syndrome is essential as a clinical presentation and high impact condition. Desmopressin, a synthetic analog of arginine vasopressin, is used to compensate a water-electrolyte balance is available in forms of tablets and intranasal spray. Free drug choice is obligated for proper treatment.

  11. [Clinical observation of 5 cases of diabetes insipidus complicated with skeletal fluorosis].

    Science.gov (United States)

    Wang, Shuan-Chi; Tao, Xiao-Bing; Wang, Fang-Fang; Zhang, Nan

    2017-07-25

    To investigate the mechanism of diabetes insipidus complicated with skeletal fluorosis and the surgical treatment of spinal canal stenosis caused by skeletal fluorosis. From January 2000 to November 2011, 5 patients with diabetes insipidus complicated with skeletal fluorosis were treated with drug and cervical or thoracic posterior decompression including 2 males and 3 females with age of 35, 45, 47, 49, 55 years old respectively. The symptoms was mainly limb motor sensory disturbance accompanied by polyuria and polyuria. Imaging showed that cervical and thoracic multi-segmental continuous spinal stenosis. It was diagnosed with diabetes insipidus according to the symptoms and laboratory tests. According to the symptoms, the vertebral with problems were located and treated by posterior laminectomy decompression or the expansive open-door laminectomy. The recovery of neurological symptoms were recorded and the operation result were evaluate by JOA score improvement rate. The wound healed well in 5 cases, and 1 case of cervical axial pain was improved after symptomatic treatment. Five patients were followed up for 2 to 6 years with an average of 4 years. Numbness of limb and weakness symptoms of follow-up patients were significantly improved, muscle strength and acupuncture hypothyroidism were significantly improved compared with preoperative, the JOA score was significantly improved. At the final follow-up, the improvement rate got excellent results in 2 cases, good in 2 and fair in 1. Long-term high intake of fluoride can cause skeletal fluorosis in patients with diabetes insipidus. The posterior decompression is effective for the majority of spinal canal stenosis caused by skeletal fluorosis.

  12. Skull Base Langerhans Cell Histiocytosis with Diabetes Insipidus and Panhypopituitarism- A Rare Clinical Entity

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    Anirban Ghosh

    2017-12-01

    Case Report A 16 year old male presented with diminished vision, bilateral ptosis, left sided lateral rectus palsy, hypoesthesia of trigeminal nerve with nasal obstruction for last 5 months. There was polypoidal, bleeding mass in both nasal cavities. Contrast enhanced CT Scan showed a large homogenous mass arising from sphenoid extending into cavernous sinus and the suprasellar region. Endoscopic nasal biopsy revealed abundant Langerhans cell histiocytes, macrophages, neutrophils. Chemotherapy and radiotherapy were administered. But within 2 months the patient presented with Cushingoid features and further diminution of vision. Detailed work-up revealed Hypogonadotrophic hypogonadism and diabetes insipidus. Debulking of the tumour was done and left optic nerve decompression was done. PET scan was performed and showed large, well defined mass with increased FDG uptake in the skull base with suprasellar extension, reaching upto petrous temporal bone and causing bony erosion of ethmoid and sphenoid sinuses. Patient was then advised adjuvant chemotherapy.   Discussion Langerhans cell histiocytosis is a rare group of disorders characterised by abnormal clonal proliferation and accumulation of abnormal dendritic cells. Involvement of base of skull is even rarer. Though diabetes insipidus has been reported in Langerhans cell histiocytosis involving pituitary, panhypopituitarism is rare. These combinations of extensive Langerhans cell histiocytosis of base skull with clinical features of Diabetes insipidus and panhypopituitarism makes this case a rare clinical entity.

  13. Early central diabetes insipidus: An ominous sign in post-cardiac arrest patients.

    Science.gov (United States)

    Chae, Minjung Kathy; Lee, Jeong Hoon; Lee, Tae Rim; Yoon, Hee; Hwang, Sung Yeon; Cha, Won Chul; Shin, Tae Gun; Sim, Min Seob; Jo, Ik Joon; Song, Keun Jeong; Rhee, Joong Eui; Jeong, Yeon Kwon

    2016-04-01

    Central diabetes insipidus (CDI) after cardiac arrest is not well described. Thus, we aim to study the occurrences, outcomes, and risk factors of CDI of survivors after out-of-hospital cardiac arrest (OHCA). We retrospectively analyzed post-OHCA patients treated at a single center. Central diabetes insipidus was retrospectively defined by diagnostic criteria. One-month cerebral performance category (CPC) scores were collected for outcomes. Of the 169 patients evaluated, 36 patients (21.3%) were diagnosed with CDI. All CDI patients had a poor neurologic outcome of either CPC 4 (13.9%) or CPC 5 (86.1%), and CDI was strongly associated with mortality. Age (odds ratio [OR], 0.96; 95% confidence interval [CI], 0.93-0.99), respiratory arrest (OR, 6.62; 95% CI, 1.23-35.44), asphyxia (OR, 9.26; 95% CI, 2.17-34.61), and gray to white matter ratio on brain computed tomogram (OR, 0.88; 95% CI, 0.81-0.95) were associated with the development of CDI. The onset of CDI was earlier (P diabetes insipidus patients with death or brain death had earlier occurrence of CDI and more maximum urine output. Copyright © 2015 Elsevier Inc. All rights reserved.

  14. Use of Chlorothiazide in the Management of Central Diabetes Insipidus in Early Infancy

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    Manish Raisingani

    2017-01-01

    Full Text Available Management of central diabetes insipidus in infancy is challenging. The various forms of desmopressin, oral, subcutaneous, and intranasal, have variability in the duration of action. Infants consume most of their calories as liquids which with desmopressin puts them at risk for hyponatremia and seizures. There are few cases reporting chlorothiazide as a temporizing measure for central diabetes insipidus in infancy. A male infant presented on day of life 30 with holoprosencephaly, cleft lip and palate, and poor weight gain to endocrine clinic. Biochemical tests and urine output were consistent with central diabetes insipidus. The patient required approximately 2.5 times the normal fluid intake to keep up with the urine output. Patient was started on low renal solute load formula and oral chlorothiazide. There were normalization of serum sodium, decrease in fluid intake close to 1.3 times the normal, and improved urine output. There were no episodes of hyponatremia/hypernatremia inpatient. The patient had 2 episodes of hypernatremia in the first year of life resolving with few hours of hydration. Oral chlorothiazide is a potential bridging agent for treatment of central DI along with low renal solute load formula in early infancy. It can help achieve adequate control of DI without wide serum sodium fluctuations.

  15. INCIDENCE OF CENTRAL DIABETES INSIPIDUS IN CHILDREN PRESENTING WITH POLYDIPSIA AND POLYURIA.

    Science.gov (United States)

    Haddad, Nadine G; Nabhan, Zeina M; Eugster, Erica A

    2016-12-01

    Polydipsia and polyuria are common reasons for referral to the Pediatric Endocrine clinic. In the absence of hyperglycemia, diabetes insipidus (DI) should be considered. The objectives of the study were to determine the prevalence of central DI (CDI) in a group of children presenting for evaluation of polydipsia and polyuria, and to determine if predictive features were present in patients in whom the diagnosis of DI was made. The study was a retrospective chart review of children presenting to the endocrine clinic with complaints of polydipsia and polyuria over a 5-year period. The charts of 41 patients (mean age 4.9 ± 3.7 years, 28 males) were reviewed. CDI was diagnosed in 8 (20%) children based on abnormal water deprivation test (WDT) results. All but one patient had abnormal magnetic resonance imaging (MRI) findings, the most common being pituitary stalk thickening. Children with DI were older (7.86 ± 4.40 vs. 4.18 ± 3.20 years, P = .01) and had a higher propensity for cold beverages intake and unusual water-seeking behaviors compared to those without DI. Baseline WDT also revealed higher serum sodium (Na) and osmolality. The incidence of CDI in children presenting with polydipsia and polyuria is low. Factors associated with higher likelihood of pathology include older age, propensity for cold beverage intake, and higher baseline serum Na and osmolality on a WDT. BMI = body mass index CDI = central diabetes insipidus DI = diabetes insipidus Na = sodium WDT = water deprivation test.

  16. Early-Onset Central Diabetes Insipidus due to Compound Heterozygosity for AVP Mutations.

    Science.gov (United States)

    Bourdet, Karine; Vallette, Sophie; Deladoëy, Johnny; Van Vliet, Guy

    2016-01-01

    Genetic cases of isolated central diabetes insipidus are rare, are mostly due to dominant AVP mutations and have a delayed onset of symptoms. Only 3 consanguineous pedigrees with a recessive form have been published. A boy with a negative family history presented polyuria and failure to thrive in the first months of life and was diagnosed with central diabetes insipidus. Magnetic resonance imaging showed a normal posterior pituitary signal. A molecular genetic analysis of the AVP gene showed that he had inherited a previously reported mutation from his Lebanese father and a novel A>G transition in the splice acceptor site of intron 1 (IVS1-2A>G) from his French-Canadian mother. Replacement therapy resulted in the immediate disappearance of symptoms and in weight gain. The early polyuria in recessive central diabetes insipidus contrasts with the delayed presentation in patients with monoallelic AVP mutations. This diagnosis needs to be considered in infants with very early onset of polyuria-polydipsia and no brain malformation, even if there is no consanguinity and regardless of whether the posterior pituitary is visible or not on imaging. In addition to informing family counseling, making a molecular diagnosis eliminates the need for repeated imaging studies. © 2015 S. Karger AG, Basel.

  17. A novel AVP gene mutation in a Turkish family with neurohypophyseal diabetes insipidus.

    Science.gov (United States)

    Ilhan, M; Tiryakioglu, N O; Karaman, O; Coskunpinar, E; Yildiz, R S; Turgut, S; Tiryakioglu, D; Toprak, H; Tasan, E

    2016-03-01

    Familial neurohypophyseal diabetes insipidus (FNDI) is a rare, autosomal dominant, inherited disorder which is characterized by severe polydipsia and polyuria generally presenting in early childhood. In the present study, we aimed to analyze the AVP gene in a Turkish family with FNDI. Four patients with neurohypophyseal diabetes insipidus and ten healthy members of the family were studied. Diabetes insipidus was diagnosed by the water deprivation test in affected family members. Mutation analysis was performed by sequencing the whole coding region of AVP-NPII gene using DNA isolated from peripheral blood samples. Urine osmolality was low (C in all patients. c.-3A>C mutation in 5'UTR of AVP gene in this family might lead to the truncation of signal peptide, aggregation of AVP in the cytoplasm instead of targeting in the endoplasmic reticulum, thereby could disrupt AVP secretion without causing neuronal cytotoxicity, which might explain the presence of bright spot. The predicted effect of this mutation should be investigated by further in vitro molecular studies.

  18. Value of Renal Biopsy in Diagnosing Infantile Nephropathic Cystinosis Associated With Secondary Nephrogenic Diabetes Insipidus.

    Science.gov (United States)

    Joyce, Emily; Ho, Jacqueline; El-Gharbawy, Areeg; Salgado, Cláudia M; Ranganathan, Sarangarajan; Reyes-Múgica, Miguel

    2017-01-01

    Cystinosis is the most common cause of inherited renal Fanconi syndrome in young children, and typically presents with laboratory findings of a proximal tubulopathy and corneal crystals by one year of age. We describe here renal biopsy findings in a 20-month-old patient with an atypical presentation of distal renal tubular acidosis, diabetes insipidus, and the absence of corneal crystals. Although renal biopsy is usually not necessary to establish the diagnosis of cystinosis, when the patient presents with atypical signs and symptoms, a renal biopsy may be extremely valuable. A 20-month-old boy presented with failure to thrive, polyuria, polydipsia, and rickets. He initially showed evidence of a renal tubular acidosis, mild renal insufficiency, and nephrogenic diabetes insipidus. His initial ophthalmologic examination did not demonstrate corneal crystals. His subsequent workup revealed phosphaturia, suggesting a partial proximal tubulopathy. Concomitantly, a renal biopsy revealed prominent podocytes with an immature glomerular appearance, and electron microscopy analysis showed numerous intracellular crystals within tubular epithelial cells. Subsequent laboratory and genetic testing confirmed a diagnosis of infantile nephropathic cystinosis. This case highlights the variability in the clinical presentation of cystinosis, resulting in an uncommon clinical picture of a rare disease. Given that treatment is available to prolong renal function and minimize the extra-renal manifestations of this disorder, early diagnosis is essential. It is important to raise the index of suspicion of cystinosis by recognizing its subtle morphological changes in young patients, and that nephrogenic diabetes insipidus can be secondary to this disorder.

  19. Newly developed central diabetes insipidus following kidney transplantation: a case report.

    Science.gov (United States)

    Kim, K M; Kim, S M; Lee, J; Lee, S Y; Kwon, S K; Kim, H-Y

    2013-09-01

    Polyuria after kidney transplantation is a common, usually self-limiting disorder. However, persistent polyuria can cause not only patient discomfort, including polyuria and polydipsia, but also volume depletion that can produce allograft dysfunction. Herein, we have report a case of central diabetes insipidus newly diagnosed after kidney transplantation. A 45-year-old woman with end-stage kidney disease underwent deceased donor kidney transplantation. Two months after the transplantation, she was admitted for persistent polyuria, polydipsia, and nocturia with urine output of more than 4 L/d. Urine osmolarity was 100 mOsm/kg, which implied that the polyuria was due to water rather than solute diuresis. A water deprivation test was compatible with central diabetes insipidus; desmopressin treatment resulted in immediate symptomatic relief. Brain magnetic resonance imaging (MRI) demonstrated diffuse thickening of the pituitary stalk, which was considered to be nonspecific finding. MRI 12 months later showed no change in the pituitary stalk, although the patient has been in good health without polyuria or polydipsia on desmopressin treatment. The possibility of central diabetes insipidus should be considered in patients presenting with persistent polyuria after kidney transplantation. Copyright © 2013 Elsevier Inc. All rights reserved.

  20. An unusual case of central diabetes insipidus & hyperglycemic hyperosmolar state following cardiorespiratory arrest

    Science.gov (United States)

    2013-01-01

    Background We are describing an unusual case of severe hyperglycemia and hypernatremia, resistant to treatment. Case presentation A thirty year old female with adenocarcinoma of rectum was admitted with increasing lethargy, headache and drowsiness. She deteriorated rapidly and had cardiac arrest, following which she remained comatose. Her initial serum glucose and sodium were normal, but after receiving dexamethasone and mannitol, the serum glucose progressively increased to 54.7 mmol/L and sodium to 175 mmol/L, despite receiving very high dose of intravenous (IV) insulin infusion. She was evaluated for diabetes insipidus because of continued polyuria even after correction of hyperglycemia. Her serum osmolality was 337 mmol/kg, and urine osmolality was 141 mmol/kg which rose to 382 mmol/kg, after receiving 4 mcg of IV Desmopressin. Conclusion Our patient developed central diabetes insipidus post cardiac arrest and severe dehydration because of diabetes insipidus. Stress of critical illness, dehydration, dexamethasone and IV dextrose infusion were likely responsible for this degree of severe and resistant to treatment hyperglycemia. PMID:23947429

  1. Animal models of Central Diabetes Insipidus: Human relevance of acquired beyond hereditary syndromes and the role of oxytocin.

    Science.gov (United States)

    Bernal, Antonio; Mahía, Javier; Puerto, Amadeo

    2016-07-01

    The aim of this study was to review different animal models of Central Diabetes Insipidus, a neurobiological syndrome characterized by the excretion of copious amounts of diluted urine (polyuria), a consequent water intake (polydipsia), and a rise in the serum sodium concentration (hypernatremia). In rodents, Central Diabetes Insipidus can be caused by genetic disorders (Brattleboro rats) but also by various traumatic/surgical interventions, including neurohypophysectomy, pituitary stalk compression, hypophysectomy, and median eminence lesions. Regardless of its etiology, Central Diabetes Insipidus affects the neuroendocrine system that secretes arginine vasopressin, a neurohormone responsible for antidiuretic functions that acts trough the renal system. However, most Central Diabetes Insipidus models also show disorders in other neurobiological systems, specifically in the secretion of oxytocin, a neurohormone involved in body sodium excretion. Although the hydromineral behaviors shown by the different Central Diabetes Insipidus models have usually been considered as very similar, the present review highlights relevant differences with respect to these behaviors as a function of the individual neurobiological systems affected. Increased understanding of the relationship between the neuroendocrine systems involved and the associated hydromineral behaviors may allow appropriate action to be taken to correct these behavioral neuroendocrine deficits. Copyright © 2016 Elsevier Ltd. All rights reserved.

  2. Polyuria with the Concurrent manifestation of Central Diabetes Insipidus (CDI) & Type 2 Diabetes Mellitus (DM).

    Science.gov (United States)

    Shin, Hyun-Jong; Kim, Jae-Ha; Yi, Joo-Hark; Han, Sang-Woong; Kim, Ho-Jung

    2012-12-01

    We report a rare case of the concurrent manifestation of central diabetes insipidus (CDI) and type 2 diabetes mellitus (DM). A 56 year-old man was diagnosed as a type 2 DM on the basis of hyperglycemia with polyuria and polydipsia at a local clinic two months ago and started an oral hypoglycemic medication, but resulted in no symptomatic improvement at all. Upon admission to the university hospital, the patient's initial fasting blood sugar level was 140 mg/dL, and he showed polydipsic and polyuric conditions more than 8 L urine/day. Despite the hyperglycemia controlled with metformin and diet, his symptoms persisted. Further investigations including water deprivation test confirmed the coexisting CDI of unknown origin, and the patient's symptoms including an intense thirst were markedly improved by desmopressin nasal spray (10 µg/day). The possibility of a common origin of CDI and type 2 DM is raised in a review of the few relevant adult cases in the literature.

  3. Two novel types of contiguous gene deletion of the AVPR2 and ARHGAP4 genes in unrelated Japanese kindreds with nephrogenic diabetes insipidus.

    Science.gov (United States)

    Demura, Masashi; Takeda, Yoshiyu; Yoneda, Takashi; Furukawa, Kenji; Usukura, Mikiya; Itoh, Yuji; Mabuchi, Hiroshi

    2002-01-01

    Study of two families containing individuals with nephrogenic diabetes insipidus (NDI) indicated different types of 21.3 kb and 26.3 kb deletions involving the AVPR2 and ARHGAP4 (RhoGAP C1) genes. In the case of the 21.3 kb deletion, the deletion consensus motif (5'-TGAAGG-3') and polypurine runs, known as the arrest site of polymerase alpha, were detected in the vicinity of the deletion junction. Inverted repeats (7/8 matches), believed to potentiate DNA loop formation, flank the deletion breakpoint. We propose this deletion to be the result of slipped mispairing during DNA replication. In the case of the 26.3 kb deletion, the 12,945 bp inverted region with the 10,003 bp internal deletion was accompanied with the 2,509 bp deletion in the 5'-side and the 13,785 bp deletion in the 3'-side. We defined three deletion junctions in this rearrangement (DJ1, DJ2, and DJ3) from the 5'-side. The surrounding sequence of DJ1 (5'-CCC-3') closely resembled that of DJ3 (5'-AGGG-3') (DJ1; 5'-cCCCgaggg-3', DJ3; 5'-ccccAGGG-3'), and DJ1 was located in the 5'-side of DJ3 without any overlapping in sequence. The immunoglobulin class switch (ICS) motif (5'-TGGGG-3') was found around the complementary sequence of DJ3. There was a 10-base palindrome (5'-aGACAtgtct-3') in the alignment of the DJ2 (5'-GACA-3') region. From these findings, we propose a novel mutation process with the rearrangement probably resulting from stem-loop induced non-homologous recombination in an ICS-like fashion. Both patients, despite lacking ARHGAP4, had no morphological, clinical, or laboratory abnormalities except for those usually found in patients with NDI. Copyright 2001 Wiley-Liss, Inc.

  4. P2Y12 Receptor Localizes in the Renal Collecting Duct and Its Blockade Augments Arginine Vasopressin Action and Alleviates Nephrogenic Diabetes Insipidus.

    Science.gov (United States)

    Zhang, Yue; Peti-Peterdi, Janos; Müller, Christa E; Carlson, Noel G; Baqi, Younis; Strasburg, David L; Heiney, Kristina M; Villanueva, Karie; Kohan, Donald E; Kishore, Bellamkonda K

    2015-12-01

    P2Y12 receptor (P2Y12-R) signaling is mediated through Gi, ultimately reducing cellular cAMP levels. Because cAMP is a central modulator of arginine vasopressin (AVP)-induced water transport in the renal collecting duct (CD), we hypothesized that if expressed in the CD, P2Y12-R may play a role in renal handling of water in health and in nephrogenic diabetes insipidus. We found P2Y12-R mRNA expression in rat kidney, and immunolocalized its protein and aquaporin-2 (AQP2) in CD principal cells. Administration of clopidogrel bisulfate, an irreversible inhibitor of P2Y12-R, significantly increased urine concentration and AQP2 protein in the kidneys of Sprague-Dawley rats. Notably, clopidogrel did not alter urine concentration in Brattleboro rats that lack AVP. Clopidogrel administration also significantly ameliorated lithium-induced polyuria, improved urine concentrating ability and AQP2 protein abundance, and reversed the lithium-induced increase in free-water excretion, without decreasing blood or kidney tissue lithium levels. Clopidogrel administration also augmented the lithium-induced increase in urinary AVP excretion and suppressed the lithium-induced increase in urinary nitrates/nitrites (nitric oxide production) and 8-isoprostane (oxidative stress). Furthermore, selective blockade of P2Y12-R by the reversible antagonist PSB-0739 in primary cultures of rat inner medullary CD cells potentiated the expression of AQP2 and AQP3 mRNA, and cAMP production induced by dDAVP (desmopressin). In conclusion, pharmacologic blockade of renal P2Y12-R increases urinary concentrating ability by augmenting the effect of AVP on the kidney and ameliorates lithium-induced NDI by potentiating the action of AVP on the CD. This strategy may offer a novel and effective therapy for lithium-induced NDI. Copyright © 2015 by the American Society of Nephrology.

  5. Autoimmune central diabetes insipidus in a patient with ureaplasma urealyticum infection and review on new triggers of immune response.

    Science.gov (United States)

    Murdaca, Giuseppe; Russo, Rodolfo; Spanò, Francesca; Ferone, Diego; Albertelli, Manuela; Schenone, Angelo; Contatore, Miriam; Guastalla, Andrea; De Bellis, Annamaria; Garibotto, Giacomo; Puppo, Francesco

    2015-12-01

    Diabetes insipidus is a disease in which large volumes of dilute urine (polyuria) are excreted due to vasopressin (AVP) deficiency [central diabetes insipidus (CDI)] or to AVP resistance (nephrogenic diabetes insipidus). In the majority of patients, the occurrence of CDI is related to the destruction or degeneration of neurons of the hypothalamic supraoptic and paraventricular nuclei. The most common and well recognized causes include local inflammatory or autoimmune diseases, vascular disorders, Langerhans cell histiocytosis (LCH), sarcoidosis, tumors such as germinoma/craniopharyngioma or metastases, traumatic brain injuries, intracranial surgery, and midline cerebral and cranial malformations. Here we have the opportunity to describe an unusual case of female patient who developed autoimmune CDI following ureaplasma urealyticum infection and to review the literature on this uncommon feature. Moreover, we also discussed the potential mechanisms by which ureaplasma urealyticum might favor the development of autoimmune CDI.

  6. Control of sodium excretion in patients with cranial diabetes insipidus maintained on desamino-[8-D-arginine]vasopressin.

    Science.gov (United States)

    Sutters, M; Brace, C; Hatfield, E; Whitehurst, A; Lightman, S L; Peart, W S

    1993-11-01

    1. We have studied the response of six patients with cranial diabetes insipidus and six age-matched control subjects to dietary sodium restriction during constant administration of the synthetic vasopressin analogue desamino-[8-D-arginine]vasopressin. 2. Urine flow increased on the first low salt day in the normal control subjects but not in the patients with cranial diabetes insipidus. Body weight fell 1.35 kg in the control subjects but was constant in the patients with cranial diabetes insipidus. 3. Urinary sodium excretion fell at the same rate in both groups. Diurnal variation of urinary sodium excretion and creatinine clearance was present in the control subjects but not in the patients with cranial diabetes insipidus. 4. Changes in plasma sodium concentration and osmolality were similar. Plasma protein concentration increased more in the control subjects (from 69.1 +/- 1.5 to 73 +/- 1.2 versus from 71.7 +/- 1 to 73.2 +/- 1.1 milligrams). The responses of plasma atrial natriuretic peptide, plasma renin activity and salivary aldosterone concentration were similar between the two groups. Salivary aldosterone concentration levels were consistently higher in the patients with cranial diabetes insipidus. 5. We confirm that the low salt diuresis is triggered by release from the antidiuretic activity of arginine vasopressin. In the patients with cranial diabetes insipidus extracellular fluid osmoregulation appeared to be achieved by the movement of water out of and sodium into the extracellular fluid. 6. Absent posterior pituitary function and hypothalamic disturbances did not alter renal sodium conservation.(ABSTRACT TRUNCATED AT 250 WORDS)

  7. Fanconi's syndrome and nephrogenic diabetes insipidus in an adult treated with ifosfamide.

    Science.gov (United States)

    Ingemi, Amanda I; Bota, Vasile M; Peguero, Anyeri; Charpentier, Margaret

    2012-01-01

    Fanconi's syndrome is a serious condition characterized by type II proximal renal tubular dysfunction, with urinary loss of glucose, amino acids, phosphate, bicarbonate, and potassium. Ifosfamide-induced Fanconi's syndrome is reported in about 1.4-5% of children being treated for solid tumors, yet only a few cases have been reported in adults. We describe a 54-year-old man who came to the hospital with symptoms of neutropenic fever 4 days after his fourth cycle of ifosfamide and doxorubicin treatment for recurrent sarcoma with metastases to the lung. During admission, he was noted to have severe renal tubular dysfunction; ifosfamide-induced nephrogenic diabetes insipidus and Fanconi's syndrome were suspected. He received supportive therapy that resulted in incomplete resolution of signs and symptoms. The patient was discharged after a 5-day hospital stay when his white blood cell count increased from 0.1-2.5 × 10(3) /mm(3) and his fever had resolved. Use of the Naranjo adverse drug reaction probability scale indicated a probable relationship (score of 7) between the patient's development of diabetes insipidus and Fanconi's syndrome and his use of ifosfamide. This dual diagnosis of diabetes insipidus and Fanconi's syndrome in an adult makes this case unusual, as well as therapeutically challenging. We conducted a review of the existing literature regarding ifosfamide-induced Fanconi's syndrome and describe the proposed mechanisms and therapeutic options. This case suggests that patients treated with ifosfamide should be monitored closely for renal function to identify, and perhaps prevent, these rare adverse events. Preliminary animal models show promise for adding N-acetylcysteine to ifosfamide treatment, but more research is necessary before using this drug as a therapeutic option. © 2012 Pharmacotherapy Publications, Inc.

  8. Development of Central Diabetes Insipidus in a Female Victim with Severe Brain Injury

    Directory of Open Access Journals (Sweden)

    N. V. Nikiforova

    2009-01-01

    Full Text Available Case report. A pregnant woman with severe brain injury developed cerebral salt-wasting syndrome concurrent with diabetes insipidus. Placental enzymatic destruction of antidiuretic hormone and thyroid, adrenal, and renal dysfunction were excluded. Polyuria developed on day 3 when diuresis was less than 8.5 liters, there was hyponatremia (Na+ < 130 mmol/l with a urinary Na+ content of > 40 mmol/l. The administration of 3% sodium chloride solution considerably enhanced polyuria. When minirin was given in a daily dose of 0.4 mg, diuresis reached 32.4 liters, which exceeds the levels described for the complete absence of antidiuretic hormone. The use of minirin in the mean therapeutic dose (0.6 mg daily reduced, but failed to normalize diuresis. Evident hypernatremia and hypokalemia were absent in the existing polyuria. Brain injury in the female patient was suspected to cause and impair the synthesis of antidiuretic hormone and to increase the elaboration of ouabaine. This concomitance led to the concurrent development of central diabetes insipidus and cerebral salt-wasting syndrome. On this basis, the dose of minirin was increased up to 1.2 mg daily; hypothiazid 50 mg twice daily was prescribed. Hydrocortisone 50 mg twice daily was intramuscularly injected after diuresis reduced to 4.7 liters and hyponatremia (Na+ = 112.2 mmol/l. The performed therapy could normalize diuresis up to 1.8 liters and correct the blood levels of electrolytes. Key words: brain injury, diabetes insipidus, cerebral salt-wasting syndrome.

  9. Exacerbation of pre-existing diabetes insipidus during pregnancy, mechanisms and management.

    Science.gov (United States)

    Tack, Lloyd J W; T'Sjoen, Guy; Lapauw, Bruno

    2017-06-01

    During pregnancy, physiological changes in osmotic homeostasis cause water retention. If excessive, this can cause gestational diabetes insipidus (DI), particularly in patients with already impaired vasopressin secretion. We present the case of a 34-year-old patient with pre-existing hypopituitarism who experienced a transient exacerbation of her DI during a twin pregnancy. In contrast to typical gestational DI, polyuria and polydipsia occurred during the first trimester and remained stable thereafter. This case highlights a challenging clinical entity of which pathophysiology, diagnostic approach and treatment will be discussed.

  10. Central diabetes insipidus: an unusual complication in a child with juvenile myelomonocytic leukemia and monosomy 7.

    Science.gov (United States)

    Surapolchai, Pacharapan; Ha, Shau-Yin; Chan, Godfrey Chi-Fung; Lukito, Johannes B; Wan, Thomas S K; So, Chi-Chiu; Chiang, Alan Kwok-Shing

    2013-03-01

    Central diabetes insipidus (DI) is well-documented as a presenting feature of myelodysplastic syndrome and acute myeloid leukemia in adults. However, DI is unusual in pediatric patients with myeloid malignancies. We report here this rare complication in a child with neurofibromatosis type 1 who developed juvenile myelomonocytic leukemia and monosomy 7. Our case and previously reported cases of DI arising as a complication in myeloid malignancies demonstrate a close association with deletion of chromosome 7. The clinical characteristics and outcomes of these uncommon cases in children are reviewed and discussed.

  11. Two unusual causes of pituitary stalk thickening in children without clinical features of diabetes insipidus

    International Nuclear Information System (INIS)

    Andronikou, Savvas; Furlan, Gisella; Fieggen, Anthony G.; Wilmshurst, Jo

    2003-01-01

    Pituitary stalk thickening has a wide differential diagnosis, but almost all infundibular diseases present with diabetes insipidus (DI). We present a child with metastatic involvement of the pituitary stalk from a primary pontine tumour and a child with tuberculous infiltration of the pituitary stalk and associated meningeal inflammation. Neither child presented with DI. Even though both metastatic disease and tuberculous infiltration of the stalk have been reported in adults, these are the first reports with accompanying cross-sectional images of pituitary stalk involvement by these diseases in children. (orig.)

  12. Two unusual causes of pituitary stalk thickening in children without clinical features of diabetes insipidus

    Energy Technology Data Exchange (ETDEWEB)

    Andronikou, Savvas; Furlan, Gisella; Fieggen, Anthony G.; Wilmshurst, Jo [Department of Paediatric Neuroradiology, University of Cape Town, Klipfontein Road, 7700, Rondebosch, Cape Town (South Africa); Cross War Memorial Children' s Hospital, University of Cape Town, Klipfontein Road, 7700, Rondebosch, Cape Town (South Africa); School of Child and Adolescent Health, University of Cape Town, Klipfontein Road, 7700, Rondebosch, Cape Town (South Africa)

    2003-07-01

    Pituitary stalk thickening has a wide differential diagnosis, but almost all infundibular diseases present with diabetes insipidus (DI). We present a child with metastatic involvement of the pituitary stalk from a primary pontine tumour and a child with tuberculous infiltration of the pituitary stalk and associated meningeal inflammation. Neither child presented with DI. Even though both metastatic disease and tuberculous infiltration of the stalk have been reported in adults, these are the first reports with accompanying cross-sectional images of pituitary stalk involvement by these diseases in children. (orig.)

  13. Central Diabetes Insipidus in Refractory Antineutrophil Cytoplasmic Antibody-associated Vasculitis.

    Science.gov (United States)

    Ohashi, Keiji; Morishita, Michiko; Watanabe, Haruki; Sada, Ken-Ei; Katsuyama, Takayuki; Miyawaki, Yoshia; Katsuyama, Eri; Narazaki, Mariko; Tatebe, Noriko; Watanabe, Katsue; Kawabata, Tomoko; Wada, Jun

    2017-11-01

    We herein describe two cases of refractory antineutrophil cytoplasmic antibody-associated vasculitis (AAV) complicated with diabetes insipidus (DI) possibly related to hypertrophic pachymeningitis (HP). One patient had microscopic polyangiitis and HP, which were refractory to cyclophosphamide, azathioprine, rituximab, mycophenolate mofetil (MMF), and mizoribine. Remission was finally achieved with the use of etanercept, but DI occurred 5 years later. The other patient had granulomatosis with polyangiitis, which that was refractory to cyclophosphamide, methotrexate, MMF, and rituximab. DI subsequently developed, but was successfully treated with etanercept. Dura mater hypertrophy was macroscopically observed in the latter case.

  14. Swan ganz catheter for diagnosis of transient central diabetes insipidus after mitral valve replacement

    International Nuclear Information System (INIS)

    Sarwar, I.; Sinha, L.M.; Younus, A.

    2012-01-01

    Transient Diabetes Insipidus (DI) occurring in a patient undergoing open heart surgery is a rare occurrence. In this case report, we are presenting a 30 years old female patient with past history of stroke who underwent redo mitral valve replacement developed polyuria. The diagnosis of hypovolemia was made with the help of swan ganz catheter. The patient responded to desmopressin and completely recovered seven days after surgery. It is possible that transient cerebral ischemia given her history of Stroke resulted in the dysfunction of osmotic receptors in the hypothalamus or hypothalamus - pituitary axis during Cardiopulmonary Bypass (CPB). Therefore, we concluded that central DI is a probable cause of polyuria after CPB. (author)

  15. 'Stalkitis' in a pregnant 32-year-old woman: A rare cause of diabetes insipidus

    International Nuclear Information System (INIS)

    Leggett, D.A.C.; Anderson, R.J.; Hill, P.T.

    1999-01-01

    A case of lymphocytic infundibulo-neurohypophysitis (LINH) or 'stalkitis' in a 32-year-old woman who presented with diabetes insipidus (DI) during pregnancy is reported here. The diagnosis was made with MR imaging. The clinical and radiological features of this rare disorder and the differential diagnosis of infundibular mass lesions are discussed. The differentiation from lymphocytic adenohypophysitis (LAH) is made. No improvement of the DI accompanying LINH is achieved with trans-sphenoidal surgery. Hence, recognition of typical cases with MR imaging and appropriate medical management avoids unnecessary neurosurgery. This is the second reported case of LINH during pregnancy and may suggest an association. Copyright (1999) Blackwell Science Pty Ltd

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

    Science.gov (United States)

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

    2016-05-01

    We describe a 2-year-old female with a suprasellar primitive neuroectodermal tumor and central diabetes insipidus (DI) who developed polyuria with natriuresis and subsequent hyponatremia 36 hr after cisplatin administration. The marked urinary losses of sodium in combination with a negative sodium balance led to the diagnosis of cisplatin-induced renal salt wasting syndrome (RSWS). The subsequent clinical management is very challenging. Four weeks later she was discharged from ICU without neurological sequela. The combination of cisplatin-induced RSWS with DI can be confusing and needs careful clinical assessment as inaccurate diagnosis and management can result in increased neurological injury. © 2016 Wiley Periodicals, Inc.

  17. Congenital toxoplasmosis presenting as central diabetes insipidus in an infant: a case report.

    Science.gov (United States)

    Mohamed, Sarar; Osman, Abdaldafae; Al Jurayyan, Nasir A; Al Nemri, Abdulrahman; Salih, Mustafa A M

    2014-03-28

    Congenital toxoplasmosis has a wide range of presentation at birth varying from severe neurological features such as hydrocephalus and chorioretinitis to a well appearing baby, who may develop complications late in infancy. While neuroendocrine abnormalities associated with congenital toxoplasmosis are uncommon, isolated central diabetes insipidus is extremely rare. Here, we report on a female infant who presented with fever, convulsions, and polyuria. Examination revealed weight and length below the 3rd centile along with signs of severe dehydration. Fundal examination showed bilateral chorioretinitis. This infant developed hypernatremia together with increased serum osmolality and decreased both urine osmolality and specific gravity consistent with central diabetes insipidus. Serology for toxoplasma specific immunoglobulin M was high for both the mother and the baby and polymerase chain reaction for toxoplasma deoxyribonucleic acid was positive in the infant confirming congenital toxoplasmosis. Brain computerized tomography scans demonstrated ventriculomegaly associated with cerebral and cortical calcifications. Fluid and electrolyte abnormalities responded to nasal vasopressin therapy. This report highlights central diabetes inspidus as a rare presentation of congenital toxoplasmosis.

  18. [Case of distal renal tubular acidosis complicated with renal diabetes insipidus, showing aggravation of symptoms with occurrence of diabetes mellitus].

    Science.gov (United States)

    Liu, Hexing; Tomoda, Fumihiro; Koike, Tsutomu; Ohara, Maiko; Nakagawa, Taizo; Kagitani, Satoshi; Inoue, Hiroshi

    2011-01-01

    We report herein a 27-year-old male case of inherited distal renal tubular acidosis complicated with renal diabetes insipidus, the symptoms of which were aggravated by the occurrence of diabetes mellitus. At 2 months after birth, he was diagnosed as having inherited distal renal tubular acidosis and thereafter supplementation of both potassium and alkali was started to treat his hypokalemia and metabolic acidosis. At the age of 4 years, calcification of the bilateral renal medulla was detected by computed tomography. Subsequently his urinary volume gradually increased and polyuria of approximately 4 L/day persisted. At the age of 27 years, he became fond of sugar-sweetened drinks and also often forgot to take the medicine. He was admitted to our hospital due to polyuria of more than 10 L day, muscle weakness and gait disturbance. Laboratory tests disclosed worsening of both hypokalemia and metabolic acidosis in addition to severe hyperglycemia. It seemed likely that occurrence of diabetes mellitus and cessation of medications can induce osmotic diuresis and aggravate hypokalemia and metabolic acidosis. Consequently, severe dehydration, hypokalemia-induced damage of his urinary concentration ability and enhancement of the renin angiotensin system occurred and thereby possibly worsened his hypokalemia and metabolic acidosis. As normalization of hyperglycemia and metabolic acidosis might have exacerbated hypokalemia further, dehydration and hypokalemia were treated first. Following intensive treatment, these abnormalities were improved, but polyuria persisted. Elevated plasma antidiuretic hormone (12.0 pg/mL) and deficit of renal responses to antidiuretic hormone suggested that the polyuria was attributable to the preexisting renal diabetes insipidus possibly caused by bilateral renal medulla calcification. Thiazide diuretic or nonsteroidal anti-inflammatory drugs were not effective for the treatment of diabetes insipidus in the present case.

  19. Autosomal dominant familial neurohypophyseal diabetes insipidus caused by a mutation in the arginine-vasopressin II gene in four generations of a Korean family

    Directory of Open Access Journals (Sweden)

    Myo-Jing Kim

    2014-12-01

    Full Text Available Autosomal dominant neurohypophyseal diabetes insipidus is a rare form of central diabetes insipidus that is caused by mutations in the vasopressin-neurophysin II (AVP-NPII gene. It is characterized by persistent polydipsia and polyuria induced by deficient or absent secretion of arginine vasopressin (AVP. Here we report a case of familial neurohypophyseal diabetes insipidus in four generations of a Korean family, caused by heterozygous missense mutation in exon 2 of the AVP-NPII gene (c.286G>T. This is the first report of such a case in Korea.

  20. A novel mutation affecting the arginine-137 residue of AVPR2 in dizygous twins leads to nephrogenic diabetes insipidus and attenuated urine exosome aquaporin-2

    DEFF Research Database (Denmark)

    Hinrichs, Gitte R; Hansen, Louise H; Nielsen, Maria R

    2016-01-01

    Mutations in the vasopressin V2 receptor gene AVPR2 may cause X-linked nephrogenic diabetes insipidus by defective apical insertion of aquaporin-2 in the renal collecting duct principal cell. Substitution mutations with exchange of arginine at codon 137 can cause nephrogenic syndrome...... of inappropriate antidiuresis or congenital X-linked nephrogenic diabetes insipidus. We present a novel mutation in codon 137 within AVPR2 with substitution of glycine for arginine in male dizygotic twins. Nephrogenic diabetes insipidus was demonstrated by water deprivation test and resistance to vasopressin...

  1. Usefulness of anti-rabphilin-3A antibodies for diagnosing central diabetes insipidus in the third trimester of pregnancy.

    Science.gov (United States)

    Sakurai, Kanako; Yamashita, Rika; Niituma, Satsuki; Iwama, Shintaro; Sugimura, Yoshihisa; Arihara, Zenei; Takahashi, Kazuhiro

    2017-06-29

    We report a 27-year-old pregnant woman with polyuria, polydipsia and headache in the third trimester of pregnancy. Hypernatremia (153 mEq/L), high plasma osmolality (300 mOsm/kgH 2 O) and low urinary osmolality (92 mOsm/kgH 2 O) were observed at the admission to our hospital. Plasma arginine vasopressin (AVP) level was inappropriately low (2.2 pg/mL) compared to the high plasma osmolality. Plasma AVP responses to hypertonic-saline infusion were blunted, and her urine osmolality increased in response to desmopressin. The diagnosis of central diabetes insipidus was made from these results. Magnetic resonance imaging (MRI) of hypothalamic-pituitary region demonstrated a significant enlargement of the pituitary stalk, suggesting the presence of hypophysitis. In addition, serum anti-rabphilin-3A antibodies that have been recently reported as a biomarker of lymphocytic infundibulo-neurohypophysitis, were positive. Diabetes insipidus continued after delivery, suggesting that polyuria was not mainly due to excessive vasopressinase activity or reduced renal sensitivity to AVP by prostaglandin E 2 that can cause temporal polyuria during pregnancy. We therefore clinically diagnosed central diabetes insipidus due to lymphocytic infundibulo-neurohypophysitis, without performing invasive transsphenoidal pituitary biopsy. This case suggested the usefulness of anti-rabphilin-3A antibodies for the etiological diagnosis of central diabetes insipidus during pregnancy.

  2. Familial neurohypophyseal diabetes insipidus due to a novel mutation in the arginine vasopressin-neurophysin II gene

    NARCIS (Netherlands)

    de Fost, M.; van Trotsenburg, A. S. P.; van Santen, H. M.; Endert, E.; van den Elzen, C.; Kamsteeg, E. J.; Swaab, D. F.; Fliers, E.

    2011-01-01

    Familial neurohypophyseal (central) diabetes insipidus (DI) is caused by mutations in the arginine vasopressin-neurophysin II (AVP-NPII) gene. The majority of cases is inherited in an autosomal dominant way. In this study, we present the clinical features of a mother and her son with autosomal

  3. Familial neurohypophyseal diabetes insipidus due to a novel mutation in the arginine vasopressin-neurophysin II gene

    NARCIS (Netherlands)

    Fost, M. de; Trotsenburg, A.S. van; Santen, H.M. van; Endert, E.; Elzen, C. van den; Kamsteeg, E.J.; Swaab, D.F.; Fliers, E.A.

    2011-01-01

    BACKGROUND: Familial neurohypophyseal (central) diabetes insipidus (DI) is caused by mutations in the arginine vasopressin-neurophysin II (AVP-NPII) gene. The majority of cases is inherited in an autosomal dominant way. In this study, we present the clinical features of a mother and her son with

  4. A case of transient diabetes insipidus associated with poisoning by a herbicide containing glufosinate.

    Science.gov (United States)

    Takahashi, H; Toya, T; Matsumiya, N; Koyama, K

    2000-01-01

    The herbicide BASTA (AgrEvo, Germany), containing glufosinate ammonium (20%) and an anionic surfactant, polyoxyethylene alkylether sulfate (33%), is widely used. In acute oral BASTA poisoning, patients develop a variety of clinical signs, including disturbed consciousness, convulsions, and apnea. These effects are suspected to be due to the effects of glufosinate on the central nervous system. A 60-year-old man ingested 500 mL of BASTA herbicide in a suicide attempt. He developed not only unconsciousness, respiratory distress, and convulsions but also an increase in urine output (7885 mL/d), elevated serum sodium (167 mEq/L), elevated plasma osmolality (332 mOsm/kg), and a decrease in both urine osmolality (200 mOsm/kg) and urine specific gravity (1.003), which suggested the development of diabetes insipidus. The plasma level of antidiuretic hormone remained within the normal range (1.3 pg/mL), despite high plasma osmolality. The administration of desmopressin was successful in normalizing urine volume, specific gravity, and osmolality. Serum sodium corrected gradually within 48 hours. The possible mechanisms causing the diabetes insipidus are discussed.

  5. An unusual case of hereditary nephrogenic diabetes insipidus (HNDI) affecting mother and daughter.

    Science.gov (United States)

    Giri, Dinesh; Hart, Rachel; Jones, Caroline; Ellis, Ian; Ramakrishnan, Renuka

    2016-01-01

    Hereditary nephrogenic diabetes iInsipidus (HNDI) is an uncommon disorder due to a resistance to anti-diuretic hormone leading to a reduced urinary concentrating ability. The X-linked form is fully expressed in hemizygous male patients, but diabetes insipidus may also present in heterozygous females where it must be distinguished from autosomal and other secondary causes. We report a mother and daughter in the same family with HNDI due to a heterozygous deletion in exon 1 of the AVPR2 gene, not previously described in the literature. A 5-year-old girl was referred for investigation of polyuria and polydipsia. The patient had a water deprivation test elsewhere at the age of 3 that was inconclusive. A degree of water restriction was imposed leading to headaches. The thyroid, cortisol, renal, and calcium profiles were normal. Her mother showed similar symptoms that had not been previously investigated. AQP2 (Aquaporin) and initial AVPR2 gene sequencing had not identified a mutation, but subsequent quantitative polymerase chain reaction analysis revealed a heterozygous large exon 1 deletion of the AVPR2 gene. The same deletion was also found in the child's mother. The patient's symptoms have significantly improved on appropriate treatment. Further analysis revealed skewed X inactivation in mother and daughter.

  6. [Clinical characteristics of central diabetes insipidus: a retrospective analysis of 230 cases].

    Science.gov (United States)

    Zhang, J P; Guo, Q H; Mu, Y M; Lyu, Z H; Gu, W J; Yang, G Q; Du, J; Ba, J M; Lu, J M

    2018-03-01

    Objective: To evaluate the clinical characteristics and etiologies of central diabetes insipidus (CDI). Methods: The clinical data of 230 patients with CDI in the Department of Endocrinology of Chinese PLA General Hospital from 2008 June to 2014 December were collected and analyzed retrospectively. Results: The three most common causes of CDI were idiopathic CDI, lymphocytic hypophysitis and intracranial germ cell tumors. Among all the CDI, the idiopathic CDI accounted for 37.48%. There were significant differences in age onset and gender distribution among the different causes of CDI. The patients with intracranial germ cell tumors [age of onset(19.2±10.2) years] were younger than the other types of CDI. Germ cell tumors patients were more common in male, and lymphocytic hypophysitis patients were more common in female. The most frequent abnormality of anterior pituitary in patients with CDI was growth hormone deficiency, followed by hypogonadism, adrenal insufficiency and hypothyroidism. The dysfunction of thyroid axis and adrenal axis in patients with germ cell tumor was more common than those in patients with idiopathic and lymphocytic hypophysitis. Conclusions: The most common causes of central diabetes insipidus were idiopathic CDI, lymphocytic hypophysitis and intracranial germ cell tumors. There were differences in age of onset, gender distribution and abnormal production of anterior pituitary hormones among all causes of CDI patients.

  7. Adult Multisystem Langerhans Cell Histiocytosis Presenting with Central Diabetes Insipidus Successfully Treated with Chemotherapy

    Directory of Open Access Journals (Sweden)

    Jung-Eun Choi

    2014-09-01

    Full Text Available We report the rare case of an adult who was diagnosed with recurrent multisystem Langerhans cell histiocytosis (LCH involving the pituitary stalk and lung who present with central diabetes insipidus and was successfully treated with systemic steroids and chemotherapy. A 49-year-old man visited our hospital due to symptoms of polydipsia and polyuria that started 1 month prior. Two years prior to presentation, he underwent excision of right 6th and 7th rib lesions for the osteolytic lesion and chest pain, which were later confirmed to be LCH on pathology. After admission, the water deprivation test was done and the result indicated that he had central diabetes insipidus. Sella magnetic resonance imaging showed a mass on the pituitary stalk with loss of normal bright spot at the posterior lobe of the pituitary. Multiple patchy infiltrations were detected in both lung fields by computed tomography (CT. He was diagnosed with recurrent LCH and was subsequently treated with inhaled desmopressin, systemic steroids, vinblastine, and mercaptopurine. The pituitary mass disappeared after two months and both lungs were clear on chest CT after 11 months. Although clinical remission in multisystem LCH in adults is reportedly rare, our case of adult-onset multisystem LCH was treated successfully with systemic chemotherapy using prednisolone, vinblastine, and 6-mercaptopurine, which was well tolerated.

  8. Comparison of desmopressin (DDAVP tablet and intranasal spray in the treatment of central diabetes insipidus

    Directory of Open Access Journals (Sweden)

    "Bagher Larijani

    2005-07-01

    Full Text Available Desmoperssin is the drug of choice for treatment of central diabetes insipidus and most commonly it is used as intranasal spray. In this study, efficacy and side effects of oral desmopressin was compared with the intranasal spray. This study was before -after clinical trial on 14 outpatients (9 F, 5 M, age 14 -50 Y with central diabetes insipidus who had been treated with intranasal spray of desmopressin previously. Weight, pulse rate and blood pressure (sitting -standing, biochemical profile, serum electrolytes, 24h urine volume, specific gravity of urine and LFT was measured before and after 1 month study. Starting dose for each patient was one oral tablet of DDAVP (0.1 mg per 8 hours. Paired Samples T-Test was used for data analysis. No clinically significant changes were found as regard to weight, pulse rate, blood pressure, blood chemistry, electrolyte and urinalysis. Single reported adverse effect was headache (43% in tablet group and dyspnea (7% in spray group. Both dosage forms were able to control diurnal polyuria and nocturnal polyuria. The antidiuretic dose - equivalence ratio for intranasal to oral desmopressin was 1: 18. Spray was superior in terms of rapid onset of action and duration of antidiuretic action in 100% and 78% of cases (not significant, respectively. Tablets were more available and much more easily consumed as reported by patients, in 86% (P=0.0006. Treatment with tablets offers a good alternative to the intranasal route, especially in patients with chronic rhinitis or common cold and similar conditions.

  9. Microvascular diabetes complications in Wolfram syndrome (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness [DIDMOAD]): an age- and duration-matched comparison with common type 1 diabetes.

    Science.gov (United States)

    Cano, Aline; Molines, Laurent; Valéro, René; Simonin, Gilbert; Paquis-Flucklinger, Véronique; Vialettes, Bernard

    2007-09-01

    Some previous studies suggested that patients suffering from Wolfram syndrome or DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness) might be relatively preserved from diabetic retinopathy and nephropathy. However, these data were not conclusive because either observations were only anecdotic or did not match with control type 1 diabetic populations. A group of 26 French diabetic patients with DIDMOAD was compared with a population of 52 patients with common type 1 diabetes matched for age at diabetes diagnosis (8.62 +/- 1.84 vs. 8.27 +/- 1.30 years; P = NS) and diabetes duration (12.88 +/- 1.58 vs. 12.87 +/- 1.13 years; P = NS) to study the quality of glycemic control and the incidence of microvascular complications. Glycemic control was significantly better in the DIDMOAD group than in the type 1 diabetic group (A1C: 7.72 +/- 0.21 vs. 8.99 +/- 0.25%, respectively; P = 0.002), with significant lower daily insulin requirements (0.71 +/- 0.07 vs. 0.88 +/- 0.04 UI x kg(-1) x day(-1), respectively; P = 0.0325). The prevalence of microvascular complications in the DIDMOAD group was half that observed in the type 1 diabetic group, but the difference was not significant. Diabetes in DIDMOAD patients is more easily controlled despite the presence of other handicaps. This better glycemic control could explain the trend to decreased microvascular diabetes complications observed in previous studies.

  10. Sildenafil reduces polyuria in rats with lithium-induced NDI.

    Science.gov (United States)

    Sanches, Talita Rojas; Volpini, Rildo Aparecido; Massola Shimizu, Maria H; Bragança, Ana Carolina de; Oshiro-Monreal, Fabíola; Seguro, Antonio Carlos; Andrade, Lúcia

    2012-01-01

    Lithium (Li)-treated patients often develop urinary concentrating defect and polyuria, a condition known as nephrogenic diabetes insipidus (NDI). In a rat model of Li-induced NDI, we studied the effect that sildenafil (Sil), a phosphodiesterase 5 (PDE5) inhibitor, has on renal expression of aquaporin-2 (AQP2), urea transporter UT-A1, Na(+)/H(+) exchanger 3 (NHE3), Na(+)-K(+)-2Cl(-) cotransporter (NKCC2), epithelial Na channel (ENaC; α-, β-, and γ-subunits), endothelial nitric oxide synthase (eNOS), and inducible nitric oxide synthase. We also evaluated cGMP levels in medullary collecting duct cells in suspension. For 4 wk, Wistar rats received Li (40 mmol/kg food) or no treatment (control), some receiving, in weeks 2-4, Sil (200 mg/kg food) or Li and Sil (Li+Sil). In Li+Sil rats, urine output and free water clearance were markedly lower, whereas urinary osmolality was higher, than in Li rats. The cGMP levels in the suspensions of medullary collecting duct cells were markedly higher in the Li+Sil and Sil groups than in the control and Li groups. Semiquantitative immunoblotting revealed the following: in Li+Sil rats, AQP2 expression was partially normalized, whereas that of UT-A1, γ-ENaC, and eNOS was completely normalized; and expression of NKCC2 and NHE3 was significantly higher in Li rats than in controls. Inulin clearance was normal in all groups. Mean arterial pressure and plasma arginine vasopressin did not differ among the groups. Sil completely reversed the Li-induced increase in renal vascular resistance. We conclude that, in experimental Li-induced NDI, Sil reduces polyuria, increases urinary osmolality, and decreases free water clearance via upregulation of renal AQP2 and UT-A1.

  11. Adipsic diabetes insipidus and venous thromboembolism (VTE): recommendations for addressing its hypercoagulability.

    Science.gov (United States)

    Miljic, Dragana; Miljic, Predrag; Doknic, Mirjana; Pekic, Sandra; Stojanovic, Marko; Petakov, Milan; Popovic, Vera

    2014-01-01

    Adipsic diabetes insipidus (ADI) is a rare disorder. It can occur after transcranial surgery for craniopharyngeoma, suprasellar pituitary adenoma and anterior communicating artery aneurysm but also with head injury, toluene exposure and developmental disorders. It is often associated with significant hypothalamic dysfunction and complications like obesity, sleep apnea, thermoregulatory disorders, seizures and venous thromboembolism (VTE). Morbidity and mortality data have been reported as single case reports with only one large series suggesting increased risk for VTE in patients with ADI. Here we report a mini-series of four patients with ADI and VTE. Post-surgery immobilization, obesity, infection, with prolonged hospitalization, hemoconcentration and changes in coagulation which might be induced by inadequate hormone treatment in the postoperative period (high doses of glucocorticoids, sex steroids and DDAVP replacement) may all contribute to the pathogenesis of VTE. Thromboprophylactic treatment after pituitary surgery and during episodes of hypernatremia is therefore warranted.

  12. From cerebral salt wasting to diabetes insipidus with adipsia: case report of a child with craniopharyngioma.

    Science.gov (United States)

    Raghunathan, Veena; Dhaliwal, Maninder Singh; Gupta, Aditya; Jevalikar, Ganesh

    2015-03-01

    Craniopharyngioma is associated with a wide and interesting variety of sodium states both by itself and following surgical resection. These are often challenging to diagnose, especially given their dynamic nature during the perioperative course. We present the case of a boy with craniopharyngioma who had hyponatremia due to cerebral salt wasting preoperatively, developed diabetes insipidus (DI) intraoperatively and proceeded to develop hypernatremia with adipsic DI. Cerebral salt wasting is a rare presenting feature of craniopharyngioma. Postoperative DI can be associated with thirst abnormalities including adipsia due to hypothalamic damage; careful monitoring and a high index of suspicion are required for its detection. Adipsic DI is a difficult condition to manage; hence a conservative surgical approach is suggested.

  13. Perianal Ulcer and Diabetes Insipidus: A Rare Presentation of Langerhans Cell Histiocytosis in an Adult Male

    Directory of Open Access Journals (Sweden)

    Ng Chong Beng

    2017-07-01

    Full Text Available Langerhans cell histiocytosis (LCH, previously known as Histiocystosis X, is a rare idiopathic disease caused by a build-up of langerhan cells in the body. LCH has a heterogenous form of clinical presentation and presents with varying degree of severity. The severity often depends on the disease burden. LCH can manifest as a unifocal disease, multifocal-unisystem or multifocal-multisystem disease with the latter being more fatal than the rest. Risk organ involvement confers a grim prognosis. Perianal lesions are extremely rare skin manifestation of LCH with only few cases reported in the past. Vinca-alkaloids and steroid therapy have been shown to be effective in a large percentage of those presenting with LCH. This case report highlights the diagnosis and management of LCH presenting as a painful perianal ulcer in the background of newly diagnosed diabetes insipidus.

  14. Selection of desmopressin preparations for the treatment of central diabetes insipidus

    Directory of Open Access Journals (Sweden)

    Elena V. Biryukova

    2017-12-01

    Full Text Available Central diabetes insipidus (CDI is a severe pathology of the hypothalamic-pituitary system, based on a deficit of antidiuretic hormone (ADH. The disease is a life threating condition for patients without adequate replacement therapy by various preparations of arginine vasopressin. This review presents the current concepts on etiology, pathogenesis, diagnostic proсedures, and treatment of CDI. The article gives comparative pharmacological characteristics of various desmopressin forms for the treatment of the central form of disease. When choosing a therapy for the treatment of CDI, the article highlights the long-term high efficiency and safety of the original sublingual form of desmopressin (Mininin Melt, which is confirmed by real clinical practice and clinical trials, including the comparison with other forms of desmopressin.

  15. Opioid-induced hyponatremia in a patient with central diabetes insipidus: independence from ADH.

    Science.gov (United States)

    Bhat, Nandini; Balliu, Erjola; Osipoff, Jennifer; Lane, Andrew; Wilson, Thomas

    2017-05-24

    Hyponatremia can be a complication of opioid therapy, which has been postulated to occur secondary to inappropriate antidiuretic hormone secretion (syndrome of inappropriate antidiuretic hormone secretion [SIADH]). We report severe hyponatremia following wisdom teeth extraction with opioid analgesia in a 19-year-old female with diabetes insipidus (DI) and acquired panhypopituitarism that challenges this theory. As this patient has DI, we believe opioid treatment caused severe hyponatremia by the following mechanisms: (1) Opioids have a direct antidiuretic effect independent of changes in ADH, as demonstrated in Brattleboro rats with central DI. (2) Hydrocodone may have stimulated this patient's thirst center contributing to hyponatremia, as demonstrated in animal studies. Opioid use can cause hyponatremia in patients independent of ADH. It is important for clinicians to be aware of this so that patients can be appropriately counseled.

  16. Hyperactivation of Nrf2 in early tubular development induces nephrogenic diabetes insipidus

    Science.gov (United States)

    Suzuki, Takafumi; Seki, Shiori; Hiramoto, Keiichiro; Naganuma, Eriko; Kobayashi, Eri H.; Yamaoka, Ayaka; Baird, Liam; Takahashi, Nobuyuki; Sato, Hiroshi; Yamamoto, Masayuki

    2017-01-01

    NF-E2-related factor-2 (Nrf2) regulates cellular responses to oxidative and electrophilic stress. Loss of Keap1 increases Nrf2 protein levels, and Keap1-null mice die of oesophageal hyperkeratosis because of Nrf2 hyperactivation. Here we show that deletion of oesophageal Nrf2 in Keap1-null mice allows survival until adulthood, but the animals develop polyuria with low osmolality and bilateral hydronephrosis. This phenotype is caused by defects in water reabsorption that are the result of reduced aquaporin 2 levels in the kidney. Renal tubular deletion of Keap1 promotes nephrogenic diabetes insipidus features, confirming that Nrf2 activation in developing tubular cells causes a water reabsorption defect. These findings suggest that Nrf2 activity should be tightly controlled during development in order to maintain renal homeostasis. In addition, tissue-specific ablation of Nrf2 in Keap1-null mice might create useful animal models to uncover novel physiological functions of Nrf2. PMID:28233855

  17. A case of transient central diabetes insipidus after aorto-coronary bypass operation.

    Science.gov (United States)

    Yu, Chung-Hoon; Cho, Jang-Hee; Jung, Hee-Yeon; Lim, Jeong-Hoon; Jin, Mi-Kyung; Kwon, Owen; Hong, Kyung-Deuk; Choi, Ji-Young; Yoon, Se-Hee; Kim, Chan-Duck; Kim, Yong-Lim; Kim, Gun-Jik; Park, Sun-Hee

    2012-09-01

    Diabetes insipidus (DI) is characterized by excessive urination and thirst. This disease results from inadequate output of antidiuretic hormone (ADH) from the pituitary gland or the absence of the normal response to ADH in the kidney. We present a case of transient central DI in a patient who underwent a cardiopulmonary bypass (CPB) for coronary artery bypass grafting (CABG). A 44-yr-old male underwent a CABG operation. An hour after the operation, the patient developed polyuria and was diagnosed with central DI. The patient responded to desmopressin and completely recovered five days after surgery. It is probable that transient cerebral ischemia resulted in the dysfunction of osmotic receptors in the hypothalamus or hypothalamus-pituitary axis during CPB. It is also possible that cardiac standstill altered the left atrial non-osmotic receptor function and suppressed ADH release. Therefore, we suggest that central DI is a possible cause of polyuria after CPB.

  18. Iatrogenic water intoxication during pelvic ultrasonography in a patient with diabetes insipidus.

    Science.gov (United States)

    Derinöz, Okşan; Emeksiz, Hamdi Cihan; Kalkan, Gökhan; Camurdan, Orhun

    2012-01-01

    Pelvic ultrasonography (US) is a simple and non-invasive radiologic test to evaluate the pelvic organs. It requires a full bladder for better visualization. Our case is a 14-year-old female with diabetes insipidus (DI) who admitted to the pediatric emergency service with the complaints of seizure and agitation after drinking 4 liters of water in one hour for a pelvic US examination due to work-up for delayed puberty. Her biochemical and clinical evaluation revealed water intoxication (WI). To our knowledge, this is the first WI case developed in a patient with DI. Here, we discuss the underlying factors leading to this complication and recommended an approach to obtain a better sonographic image without necessitating oral water intake to fill the urinary bladder.

  19. CENTRAL DIABETES INSIPIDUS: CLINICAL CHARACTERISTICS AND LONG-TERM COURSE IN A LARGE COHORT OF ADULTS.

    Science.gov (United States)

    Masri-Iraqi, Hiba; Hirsch, Dania; Herzberg, Dana; Lifshitz, Avner; Tsvetov, Gloria; Benbassat, Carlos; Shimon, Ilan

    2017-05-01

    Central diabetes insipidus (CDI) is a rare heterogeneous condition with various underlying causes. This study sought to increase the still-limited data on the clinical characteristics and long-term course in adults diagnosed with CDI. Data on demographics, presentation, imaging findings, affected pituitary axes, treatment, and complications were collected retrospectively from the files of 70 adult patients with CDI followed at a referral endocrine clinic. Forty women and 30 men were included. Mean age was 46.8 ± 15 years at the time of this study and 29.3 ± 20 years at CDI diagnosis. Twenty-eight patients were diagnosed in childhood. Forty patients (57%) acquired CDI following surgery. Main sellar pathologies were: craniopharyngioma, 17 patients (11 diagnosed in childhood); Langerhans histiocytosis, 10 patients (5 diagnosed in childhood); 7 patients (all diagnosed as adults) had a growth hormone-secreting adenoma; 12 patients (17%; 6 diagnosed in childhood) had idiopathic CDI. At least one anterior pituitary axis was affected in 73% of the cohort: 59% had growth hormone deficiency, 56% hypogonadism, 55% central hypothyroidism, 44% adrenocorticotropic hormone-cortisol deficiency. Patients with postoperative/trauma CDI (n = 44) tended to have multiple anterior pituitary axes deficits compared to the nonsurgical group of patients. All patients were treated with vasopressin preparations, mostly nasal spray. Hyponatremia developed in 32 patients, more in women, and was severe (150 mEq/L) was noticed in 5 patients. Overall, the calculated complication rate was 22 in 1,250 treatment-years. Most adult patients with CDI have anterior pituitary dysfunction. Stability is usually achieved with long-term treatment. Women were more susceptible to desmopressin complications, albeit with an overall relatively low complication rate. ACTH = adrenocorticotropic hormone CDI = central diabetes insipidus GH = growth hormone MRI = magnetic resonance imaging.

  20. Lithium-induced NDI: acetazolamide reduces polyuria but does not improve urine concentrating ability.

    Science.gov (United States)

    de Groot, Theun; Doornebal, Joan; Christensen, Birgitte M; Cockx, Simone; Sinke, Anne P; Baumgarten, Ruben; Bedford, Jennifer J; Walker, Robert J; Wetzels, Jack F M; Deen, Peter M T

    2017-09-01

    Lithium is the mainstay treatment for patients with bipolar disorder, but it generally causes nephrogenic diabetes insipidus (NDI), a disorder in which the renal urine concentrating ability has become vasopressin insensitive. Li-NDI is caused by lithium uptake by collecting duct principal cells and downregulation of aquaporin-2 (AQP2) water channels, which are essential for water uptake from tubular urine. Recently, we found that the prophylactic administration of acetazolamide to mice effectively attenuated Li-NDI. To evaluate whether acetazolamide might benefit lithium-treated patients, we administered acetazolamide to mice with established Li-NDI and six patients with a lithium-induced urinary concentrating defect. In mice, acetazolamide partially reversed lithium-induced polyuria and increased urine osmolality, which, however, did not coincide with increased AQP2 abundances. In patients, acetazolamide led to the withdrawal of two patients from the study due to side effects. In the four remaining patients acetazolamide did not lead to clinically relevant changes in maximal urine osmolality. Urine output was also not affected, although none of these patients demonstrated overt lithium-induced polyuria. In three out of four patients, acetazolamide treatment increased serum creatinine levels, indicating a decreased glomerular filtration rate (GFR). Strikingly, these three patients also showed a decrease in systemic blood pressure. All together, our data reveal that acetazolamide does not improve the urinary concentrating defect caused by lithium, but it lowers the GFR, likely explaining the reduced urine output in our mice and in a recently reported patient with lithium-induced polyuria. The reduced GFR in patients prone to chronic kidney disease development, however, warrants against application of acetazolamide in Li-NDI patients without long-term (pre)clinical studies. Copyright © 2017 the American Physiological Society.

  1. Diabete insípido central em um cão Central diabetes insipidus in a dog

    Directory of Open Access Journals (Sweden)

    Claudete Schmidt

    2009-06-01

    Full Text Available Descreve-se um caso de diabete insípido central em um cão, fêmea, nove anos de idade, sem raça definida, com história de poliúria e polidipsia há 18 meses. Com o exame físico, nenhuma alteração sistêmica foi elucidada. Já nos exames laboratoriais complementares, observou-se policitemia e hiperproteinemia, e a densidade específica da urina (1002 encontrava-se abaixo do limiar fisiológico. O animal foi submetido à privação hídrica e se mostrou incapaz de concentrar a urina durante as sete horas observadas, tempo que levou para apresentar 5% de desidratação. Após isso, foi administrado acetato de desmopressina e, 5 horas após, a densidade estava em 1028, confirmando o diabete insípido de origem central. O animal recebeu terapia à base de acetato de desmopressina, apresentando melhora do quadro clínico.A case of central diabetes insipidus in a nine-year-old female dog is described. The dog presented intermitent polyuria and polydipsia in the past 18 months. In the clinical exam, complete blood count, alanine transaminase, alkaline phosphatase, BUN, creatinine, glucose and calcium dosages were normal. However, the specific urine gravity was low and presented the value 1002. The dog was unable to concentrate the urine during the seven hours of water deprivation test and presented 5% of dehydratation. The administration of desmopressin acetate elevated the specific urine gravity to 1028 five hours after the beginning of the treatment, confirming the diagnosis of diabetes insipidus of central origin.

  2. Rathke cleft cyst in seven-year-old girl presenting with central diabetes insipidus and review of literature.

    Science.gov (United States)

    Evliyaoglu, Olcay; Evliyaoglu, Cetin; Ayva, Sebnem

    2010-05-01

    Rathke cleft cysts (RCC) are benign cysts derived from remnants of Rathke cleft, and are rarely symptomatic in children. Symptoms due to RCC are associated with mass effect and pituitary hormone deficiencies. Slow growth rate of the cyst makes its incidence increase with aging. Here we report on a seven-year-old girl who presented with central diabetes insipidus (CDI). Her sella MRI revealed a lesion in the sellar region which grew rapidly in follow-up. She underwent microneurosurgical operation and the lesion was totally excised. Pathologic examination revealed RCC with degenerative changes. In her follow-up, growth hormone deficiency developed in addition to arginine vasopressin deficiency. Rapid growth of the cyst is not the usual course of RCC's. Mechanisms regarding the cyst growth are unclear as they are in this case. This is the youngest child to date presenting with central diabetes insipidus due to RCC. Rapid growth of RCC can cause CDI in young children.

  3. A Case of Rathke’s Cleft Cyst Associated with Transient Central Adrenal Insufficiency and Masked Diabetes Insipidus

    Directory of Open Access Journals (Sweden)

    Masahiro Asakawa

    2014-01-01

    Full Text Available A 73-year-old woman admitted to our hospital because of headache, poor appetite, malaise, weight loss, and vomiting was found to have central adrenal insufficiency and thyrotoxicosis due to silent thyroiditis. Polyuria developed after replacement with glucocorticoid (masked diabetes insipidus, which was controlled with nasal administration of desmopressin. Magnetic resonance imaging of the brain showed a large cystic pituitary mass (18 × 18 × 12 mm extending suprasellarly to the optic chiasm. Transsphenoidal surgery revealed that the pituitary tumor was Rathke’s cleft cyst. Following surgery, replacement with neither glucocorticoid nor desmopressin was needed any more. Therefore, it is suggested that Rathke’s cleft cyst is responsible for the masked diabetes insipidus and the central insufficiency. Furthermore, it is speculated that thyrotoxicosis with painless thyroiditis might induce changes from subclinical adrenal insufficiency to transiently overt insufficiency.

  4. Diabetes Insipidus: An Unusual Presentation of Adenocarcinoma of the Lung in a Patient with no Identifiable Lung Mass.

    Science.gov (United States)

    Gulati, Shuchi; Kiefer, Christoper; Karim, Nagla Abdel

    2015-10-01

    Lung cancers are known to metastasize to unusual sites. Despite this knowledge often times the diagnosis of a primary lung cancer gets delayed especially when the patient presents without respiratory symptoms. The patient discussed in our review is a 47-year-old female, smoker who had presented to several hospitals with months of headache, nausea and intermittent episodes of vomiting. She was noted to have hypernatremia due to diabetes insipidus and a pituitary lesion on her magnetic resonance images. The pituitary mass on biopsy was found to represent a metastatic focus from a primary lung adenocarcinoma. Clinicians should be aware of malignancies that are well known to metastasize to the posterior pituitary. Conversely, since not every patient presents with symptoms of metastasis, there is a need to recognize the clinical syndromes (e. g., diabetes insipidus-like symptoms or more subtle symptoms like cranial nerve palsies) associated with potential metastasis to the pituitary.

  5. Enteroviral Meningoencephalitis Complicated by Central Diabetes Insipidus in a Neonate: A Case Report and Review of the Literature.

    Science.gov (United States)

    Jones, Garrett; Muriello, Michael; Patel, Aloka; Logan, Latania

    2015-06-01

    Enterovirus is a known cause of central nervous system infection in the neonatal population and typically has a benign course; however, neurologic complications have been reported. We describe what we believe to be the first documented case of enteroviral meningoencephalitis complicated by central diabetes insipidus in a neonate. © The Author 2013. Published by Oxford University Press on behalf of the Pediatric Infectious Diseases Society. All rights reserved. For Permissions, please e-mail: journals.permissions@oup.com.

  6. Diabetes Insipidus

    Science.gov (United States)

    ... Center Pacientes y Cuidadores Hormones and Health The Endocrine System Hormones Endocrine Disrupting Chemicals (EDCs) Steroid and Hormone ... an Endocrinologist Clinical Trials Hormones and Health The Endocrine System Hormones Endocrine Disrupting Chemicals (EDCs) Steroid and Hormone ...

  7. Diabetes Insipidus

    Science.gov (United States)

    ... Choosing a Treatment Hemodialysis Peritoneal Dialysis Kidney Transplant Conservative Management Eating Right Financial Help for Treatment of ... deprivation test magnetic resonance imaging (MRI) Medical and Family History Taking a medical and family history can ...

  8. Polyuria and polydipsia in a young child: diagnostic considerations and identification of novel mutation causing familial neurohypophyseal diabetes insipidus.

    Science.gov (United States)

    Stephen, Matthew D; Fenwick, Raymond G; Brosnan, Patrick G

    2012-12-01

    A 3-year 5-month-old boy was seen for second opinion regarding polydipsia and polyuria. Previously, a diagnosis of primary polydipsia was made after normal urine concentration after overnight water deprivation testing. The boy's father, paternal grandfather, and paternal aunt had diabetes insipidus treated with desmopressin acetate. Based on this young boy's symptoms, ability to concentrate urine after informal overnight water deprivation, and family history of diabetes insipidus, we performed AVP gene mutation testing. Analysis of the AVP gene revealed a novel mutation G54E that changes a normal glycine to glutamic acid, caused by a guanine to adenine change at nucleotide g.1537 (exon 2) of the AVP gene. Commonly, patients with familial neurohypophyseal diabetes insipidus (FNHDI) present within the first 6 years of life with progressively worsening polyuria and compensatory polydipsia. Since these patients have progressive loss of arginine vasopressin (AVP), they may initially respond normally to water deprivation testing and have normal pituitary findings on brain MRI. Genetic testing may be helpful in these patients, as well as preemptively diagnosing those with a mutation, thereby avoiding unnecessary surveillance of those unaffected.

  9. Apoptosis of supraoptic AVP neurons is involved in the development of central diabetes insipidus after hypophysectomy in rats

    Directory of Open Access Journals (Sweden)

    Huang Lijin

    2008-06-01

    Full Text Available Abstract Background It has been reported that various types of axonal injury of hypothalamo-neurohypophyseal tract can result in degeneration of the magnocellular neurons (MCNs in hypothalamus and development of central diabetes insipidus (CDI. However, the mechanism of the degeneration and death of MCNs after hypophysectomy in vivo is still unclear. This present study was aimed to disclose it and to figure out the dynamic change of central diabetes insipidus after hypophysectomy. Results The analysis on the dynamic change of daily water consumption (DWC, daily urine volume(DUV, specific gravity of urine(USG and plasma vasopressin concentration showed that the change pattern of them was triphasic and neuron counting showed that the degeneration of vasopressin neurons began at 10 d, aggravated at 20 d and then stabilized at 30 d after hypophysectomy. There was marked upregulation of cleaved Caspase-3 expression of vasopressin neurons in hypophysectomy rats. A "ladder" pattern of migration of DNA internucleosomal fragments was detected and apoptotic ultrastructure was found in these neurons. There was time correlation among the occurrence of diabetes insipidus, the changes of plasma vasopressin concentration and the degeneration of vasopressin neurons after hypophysectomy. Conclusion This study firstly demonstrated that apoptosis was involved in degeneration of supraoptic vasopressin neurons after hypophysectomy in vivo and development of CDI. Our study on time course and correlations among water metabolism, degeneration and apoptosis of vasopressin neurons suggested that there should be an efficient therapeutic window in which irreversible CDI might be prevented by anti-apoptosis.

  10. [Acute myeloid leukemia with monosomy 7 and inv(3)(q21q26.2) complicated with central diabetes insipidus].

    Science.gov (United States)

    Nanno, Satoru; Hagihara, Kiyoyuki; Sakabe, Manami; Okamura, Hiroshi; Inaba, Akiko; Nagata, Yuki; Nishimoto, Mitsutaka; Koh, Hideo; Nakao, Yoshitaka; Nakane, Takahiko; Nakamae, Hirohisa; Shimono, Taro; Hino, Masayuki

    2013-04-01

    A 20-year-old female presented with thirst, polyposia, and polyuria and was referred to our hospital because of leukocytosis and anemia. Bone marrow aspiration revealed 66.8% myeloperoxidase-positive blasts and trilineage myelodysplasia. The karyotype was 45, XX, inv(3)(q21q26.2), -7[19]. Therefore, a diagnosis of AML with inv(3)(q21q26.2) complicated by -7 was made. Moreover, hyposthenuria and a low anti-diuretic hormone (ADH) level were observed. Although cerebrospinal fluid analysis was normal, magnetic resonance imaging (MRI) revealed the absence of hyperintensity in the neurohypophysis in T1-weighted images. Therefore, she was also diagnosed with diabetes insipidus. After she was administered a desmopressin nasal spray, the volume of urine produced decreased. Following treatment with second induction therapy containing high-dose cytarabine for AML, she achieved complete remission in the bone marrow. Moreover, when the abnormality on MRI and the volume of urine were normalized, she discontinued desmopressin. Although diabetes insipidus is a rare complication of AML, the majority of AML patients who have diabetes insipidus have the abnormal karyotypes with inv(3)(q21q26.2)/t(3;3)(q21;q26.2) and monosomy 7. Further study is required to clarify the pathogenesis and develop a strategy for the treatment of this category of AML.

  11. [A Case of Central Diabetes Insipidus That Was Caused by Pituitary Metastasis of Lung Adenocarcinoma and Was Controlled by Radiation Therapy].

    Science.gov (United States)

    Izumi, Yusuke; Masuda, Takeshi; Nabeshima, Shinji; Horimasu, Yasushi; Nakashima, Taku; Miyamoto, Shintaro; Iwamoto, Hiroshi; Fujitaka, Kazunori; Murakami, Yuji; Hamada, Hironobu; Nagata, Yasushi; Hattori, Noboru

    2017-06-01

    Pituitary metastasis of lung cancer is rare; however, it often causes diabetes insipidus. Although the majority of such patients are treated with radiation therapy, it remains unclear whether diabetes insipidus can be controlled by radiation therapy. A 72-year-old man was admitted to our hospital for hemosputum, headache, and polyuria. A chest CT scan showed a 3.0 cm mass in the left upper lobe of his lung. Bronchofiberscopy results confirmed the pathological diagnosis of lung adenocarcinoma. Based on the findings from PET-CT, head MRI, and endocrine tests, the diagnosis of lung adenocarcinoma( cT1bN0M1b, stage IV)accompanied with central diabetes insipidus caused by pituitary metastasis was made. Oral administration of desmopressin reduced urine volumes; however, chemotherapy for achieving stable disease in the primary tumor was ineffective in controlling the symptoms of diabetes insipidus. Chemotherapy was discontinued after 4 months because of severe hematological toxicity. During 2 months after the cessation of chemotherapy, polyuria worsened and, therefore, radiation therapy for pituitary metastasis was started. Following the radiation therapy, an apparent reduction in urine volume was observed. Our experience of this case suggests that radiation therapy for pituitary metastasis should be considered at the time when diabetes insipidus becomes clinically overt.

  12. Effect of Preserving the Pituitary Stalk During Resection of Craniopharyngioma in Children on the Diabetes Insipidus and Relapse Rates and Long-Term Outcomes.

    Science.gov (United States)

    Cheng, Jing; Fan, Yanqin; Cen, Bo

    2017-09-01

    The objective of this study was to investigate the effect of preserving an infiltrated pituitary stalk during the resection of craniopharyngioma of pituitary stalk origin on postoperative outcomes and thus provide a theoretical basis for microsurgical treatment and prognosis. We screened the clinical data of all 103 pediatric patients with craniopharyngioma undergoing surgical treatment at our department between January 2006 and January 2013 and conducted a retrospective analysis of 82 patients with craniopharyngioma originating in the pituitary stalk. The patients were followed up from 12 months to 8 years. We analyzed the effect of preserving the pituitary stalk on the early and persistent diabetes insipidus rates, postoperative relapse rate, and mortality. In the total resection group (n = 67), the early and persistent diabetes insipidus rates were significantly lower in the 46 patients (68.7%) with a pituitary stalk than in those whose pituitary stalk was removed (P  0.05). In the subtotal resection group (n = 15), a significant difference was observed in the early and persistent diabetes insipidus rates (P  0.05). For children with craniopharyngioma of pituitary stalk origin, preserving the pituitary stalk has a significant effect on the early and persistent diabetes insipidus rates. When intraoperative exploration showed excessive adhesion between the tumor and pituitary stalk, we opted to preserve the pituitary stalk, which significantly reduced the early and persistent postoperative diabetes insipidus rates, without significantly increasing the relapse or mortality rate.

  13. A case of central diabetes insipidus that was caused by pituitary metastasis of lung adenocarcinoma and was controlled by radiation therapy

    International Nuclear Information System (INIS)

    Izumi, Yusuke; Masuda, Takeshi; Nabeshima, Shinji

    2017-01-01

    Pituitary metastasis of lung cancer is rare; however, it often causes diabetes insipidus. Although the majority of such patients are treated with radiation therapy, it remains unclear whether diabetes insipidus can be controlled by radiation therapy. A 72-year-old man was admitted to our hospital for hemosputum, headache, and polyuria. A chest CT scan showed a 3.0 cm mass in the left upper lobe of his lung. Bronchofiberscopy results confirmed the pathological diagnosis of lung adenocarcinoma. Based on the findings from PET-CT, head MRI, and endocrine tests, the diagnosis of lung adenocarcinoma (cT1bN0M1b, stage four) accompanied with central diabetes insipidus caused by pituitary metastasis was made. Oral administration of desmopressin reduced urine volumes; however, chemotherapy for achieving stable disease in the primary tumor was ineffective in controlling the symptoms of diabetes insipidus. Chemotherapy was discontinued after 4 months because of severe hematological toxicity. During 2 months after the cessation of chemotherapy, polyuria worsened and, therefore, radiation therapy for pituitary metastasis was started. Following the radiation therapy, an apparent reduction in urine volume was observed. Our experience of this case suggests that radiation therapy for pituitary metastasis should be considered at the time when diabetes insipidus becomes clinically overt. (author)

  14. The vasopressin precursor is not processed in the hypothalamus of Wolfram syndrome patients with diabetes insipidus: evidence for the involvement of PC2 and 7B2

    NARCIS (Netherlands)

    Gabreëls, B. A.; Swaab, D. F.; de Kleijn, D. P.; Dean, A.; Seidah, N. G.; van de Loo, J. W.; van de Ven, W. J.; Martens, G. J.; van Leeuwen, F. W.

    1998-01-01

    Wolfram syndrome (WS) is characterized by optic atrophy, insulin-dependent diabetes mellitus, vasopressin (VP)-sensitive diabetes insipidus, and neurosensory hearing loss. Here we report a disturbance in VP precursor processing in the supraoptic and paraventricular nuclei of WS patients. In these

  15. Pituitary Morphology and Function in 43 Children with Central Diabetes Insipidus

    Directory of Open Access Journals (Sweden)

    Wendong Liu

    2016-01-01

    Full Text Available Objective. In pediatric central diabetes insipidus (CDI, etiology diagnosis and pituitary function monitoring are usually delayed. This study aimed to illustrate the importance of regular follow-up and pituitary function monitoring in pediatric CDI. Methods. The clinical, hormonal, and neuroradiological characteristics of children with CDI at diagnosis and during 1.5–2-year follow-up were collected and analyzed. Results. The study included 43 CDI patients. The mean interval between initial manifestation and diagnosis was 22.29 ± 3.67 months (range: 2–108 months. The most common complaint was polyuria/polydipsia. Causes included Langerhans cell histiocytosis, germinoma, and craniopharyngioma in 2, 5, and 4 patients; the remaining were idiopathic. No significant changes were found during the 1.5–2 years after CDI diagnosis. Twenty-three of the 43 cases (53.5% had ≥1 anterior pituitary hormone deficiency. Isolated growth hormone deficiency was the most frequent abnormality (37.5% and was not associated with pituitary stalk diameter. Multiple pituitary hormone deficiencies were found in 8 cases with pituitary stalk diameter > 4.5 mm. Conclusion. Diagnosis of CDI is usually delayed. CDI with a pituitary stalk diameter > 4.5 mm carries a higher risk of multiple pituitary hormone deficiencies. Long-term MRI and pituitary function follow-ups are necessary for children with idiopathic CDI.

  16. Stiletto stabbing: penetrating injury to the hypothalamus with hyperacute diabetes insipidus.

    Science.gov (United States)

    Itshayek, Eyal; Gomori, John Moshe; Spektor, Sergey; Cohen, José E

    2010-12-01

    Diabetes insipidus (DI) is a well documented complication observed after traumatic head injuries. We report a case of hyperacute onset DI in a 19-year-old male who sustained a hypothalamic-pituitary injury when he was stabbed in the head with a 30-cm long thin-bladed knife. At CT, our patient showed significant hemorrhagic contusions of the lower hypothalamus. He developed polydipsia, polyuria, and mild hypernatremia in the Emergency Department. Diagnostic digital subtraction angiography showed a hypervascular congestive pituitary gland with prominent draining veins. On the third day his hypernatremia became severe (183mEq/L). He was managed with parenteral fluids and a regimen of intranasal DDAVP (1-desamino 8-d-arginine vasopressin), leading to improved plasmatic sodium levels, urine output, and urinary specific gravity. In patients presenting with hyperacute posttraumatic DI, emergency room physicians and neurosurgeons should rule out direct injury to the hypothalamus and/or the posterior lobe of the pituitary, and initiate early pharmacological treatment. Copyright © 2010 Elsevier B.V. All rights reserved.

  17. Xanthomatous Hypophysitis Presenting with Diabetes Insipidus Completely Cured Through Transsphenoidal Surgery: Case Report and Literature Review.

    Science.gov (United States)

    Lin, Wei; Gao, Lu; Guo, Xiaopeng; Wang, Wenze; Xing, Bing

    2017-08-01

    Xanthomatous hypophysitis (XH) is extremely rare. Only 27 cases have been reported in the literature. No XH patient presenting with diabetes insipidus (DI) has been completely cured through surgery. Here, we describe the first XH case of a DI patient whose pituitary function was normalized postoperatively, without hormone replacement therapy. A 41-year-old woman suffered from polydipsia, DI, headache, and breast discharge. Laboratory investigation revealed hyperprolactinemia. Pituitary magnetic resonance imaging showed a 2.0-cm × 1.4-cm × 1.6-cm lesion that demonstrated heterogeneous intensity on T1-weighted imaging and peripheral ring enhancement following contrast; the lesion was totally removed through transsphenoidal surgery. Histopathologic and immunohistochemical examinations confirmed the diagnosis of XH. At the 4- and 15-month follow-up visits, all pituitary-related hormones were normal, and the patient was not taking medication. A repeat pituitary magnetic resonance imaging showed no evidence of recurrence. To the best of our knowledge, this case is the first documented occurrence of XH with DI completely cured through surgery. If XH is suspected, total surgical resection of the lesion is recommended and normal pituitary tissue should be carefully protected intraoperatively. Copyright © 2017 Elsevier Inc. All rights reserved.

  18. Clinical review: Current state and future perspectives in the diagnosis of diabetes insipidus: a clinical review.

    Science.gov (United States)

    Fenske, Wiebke; Allolio, Bruno

    2012-10-01

    The differential diagnosis of diabetes insipidus (DI) is often challenging but essential, because treatment may vary substantially. This article analyzes the database and performance of currently used differential diagnostic tests for DI and discusses future perspectives for diagnostic improvement. A review of electronic and print data comprising original and review articles retrieved from the PubMed or Cochrane Library database up to January 2012 was conducted. The search term "polyuria polydipsia syndrome" was cross-referenced with underlying forms of disease and associated clinical, diagnostic, and therapeutic MeSH terms. In addition, references from review articles and textbook chapters were screened for papers containing original data. Search results were narrowed to articles containing primary data with a description of criteria for the differential diagnosis of DI. Fifteen articles on differential diagnosis of DI were identified, mainly consisting of small series of patients, and mostly covering only part of the differential diagnostic spectrum of DI. Test protocols differed, and prospective validation of diagnostic criteria was consistently missing. Inconsistent data were reported on the diagnostic superiority of direct plasma arginine vasopressin determination over the indirect water deprivation test. Both test methods revealed limitations, especially in the differentiation of disorders with a milder phenotype. The available data demonstrate limitations of current biochemical tests for the differential diagnosis of DI, potentially leading to incorrect diagnosis and treatment. The newly available assay for copeptin, the C terminus of the vasopressin precursor, holds promise for a higher diagnostic specificity and simplification of the differential diagnostic protocol in DI.

  19. Progressive polyuria without vasopressin neuron loss in a mouse model for familial neurohypophysial diabetes insipidus.

    Science.gov (United States)

    Hayashi, Masayuki; Arima, Hiroshi; Ozaki, Noriyuki; Morishita, Yoshiaki; Hiroi, Maiko; Ozaki, Nobuaki; Nagasaki, Hiroshi; Kinoshita, Noriaki; Ueda, Masatsugu; Shiota, Akira; Oiso, Yutaka

    2009-05-01

    Familial neurohypophysial diabetes insipidus (FNDI), an autosomal dominant disorder, is mostly caused by mutations in the gene of neurophysin II (NPII), the carrier protein of arginine vasopressin (AVP). Previous studies suggest that loss of AVP neurons might be the cause of polyuria in FNDI. Here we analyzed knockin mice expressing mutant NPII that causes FNDI in humans. The heterozygous mice manifested progressive polyuria as do patients with FNDI. Immunohistochemical analyses revealed that inclusion bodies that were not immunostained with antibodies for mutant NPII, normal NPII, or AVP were present in the AVP cells in the supraoptic nucleus (SON), and that the size of inclusion bodies gradually increased in parallel with the increases in urine volume. Electron microscopic analyses showed that aggregates existed in the endoplasmic reticulum (ER) as well as in the nucleus of AVP neurons in 1-mo-old heterozygous mice. At 12 mo, dilated ER filled with aggregates occupied the cytoplasm of AVP cells, while few aggregates were found in the nucleus. Analyses with in situ hybridization revealed that expression of AVP mRNA was significantly decreased in the SON in the heterozygous mice compared with that in wild-type mice. Counting cells expressing AVP mRNA in the SON indicated that polyuria had progressed substantially in the absence of neuronal loss. These data suggest that cell death is not the primary cause of polyuria in FNDI, and that the aggregates accumulated in the ER might be involved in the dysfunction of AVP neurons that lead to the progressive polyuria.

  20. Management of central diabetes insipidus with oral desmopressin lyophilisate in infants.

    Science.gov (United States)

    Korkmaz, Hüseyin Anıl; Demir, Korcan; Kılıç, Fatma Kaya; Terek, Demet; Arslanoğlu, Sertaç; Dizdarer, Ceyhun; Ozkan, Behzat

    2014-09-01

    To assess the efficiency of oral desmopressin lyophilisate (ODL) in neonatal central diabetes insipidus (CDI). The characteristics of four newborns with CDI treated with ODL were evaluated. Four newborns with polyuria and hypernatremia were included [male, 2 (50%); mean postnatal age, 19±17 days]. At the time of hypernatremia, the mean serum and urine osmolality values were 310±16 and 179±48 mOsm/kg, respectively. Antidiuretic hormone levels were undetectable (<0.5 pmol/L) in all cases. Magnetic resonance imaging revealed anatomical malformations in all cases. ODL (60 μg/tablet) dissolved in water (3-5 mL) was initiated with a dose of 5 μg/kg/day in two equal doses, together with limitation of water intake to avoid hyponatremia. Serum sodium levels returned to normal in a mean duration of 58±9.9 h with a mean decline rate of 0.37±0.1 mEq/L/h after desmopressin administration. Rehospitalization was required for one of the infants because of hypernatremia due to non-compliance. No episode of hyponatremia was encountered. Weight gain and growth of the infants were normal during the mean follow-up duration of 8.5±1 months. ODL appears to be practical and safe in the treatment of CDI during the first year of life.

  1. Cholesteatoma in the Sellar Region Presenting as Hypopituitarism and Diabetes Insipidus

    Science.gov (United States)

    Kong, Xiangyi; Wu, Huanwen; Ma, Wenbin; Li, Yongning; Xing, Bing; Kong, Yanguo; Wang, Renzhi

    2016-01-01

    Abstract Clinically significant sellar cysts unrelated to pituitary adenomas are uncommon. Intracranial cholesteatomas are also rare and are most common in the middle ear and mastoid region. We report an even rarer case of cholesteatoma in the sellar region—a challenging diagnosis guided by clinical presentations, radiological signs, and biopsy, aiming at emphasize the importance of considering cholesteatoma when making differential diagnoses of sellar lesions. We present a case of cholesteatoma in the sellar region in a 56-year-old man with hypopituitarism, diabetes insipidus, and cystic imaging findings. It was difficult to make an accurate diagnosis before surgery. We present detailed analysis of the patient's disease course and review pertinent literature. The patient underwent a surgical exploration and tumor resection through a transsphenoidal approach. Pathologic results revealed a cholesteatoma. The patient's symptoms improved a lot after surgery, and the postoperative period was uneventful. Taken together, the lesion's imaging appearance, pathological characteristics, and clinical features were all unique features that lead to a diagnosis of cholesteatoma. As we did not see such reports by Pubmed and EMBASE, we believe this is the first reported case of sellar cholesteatoma presenting in this manner. This article emphasized that cholesteatomas, although rare, should be considered part of the differential diagnosis of sellar lesions. PMID:26962793

  2. Two novel mutations in seven Czech and Slovak kindreds with familial neurohypophyseal diabetes insipidus-benefit of genetic testing.

    Science.gov (United States)

    Hrčková, Gabriela; Jankó, Viktor; Kytnarová, Jitka; Čižmárová, Michaela; Tesařová, Markéta; Košťálová, Ľudmila; Virgová, Daniela; Dallos, Tomáš; Hána, Václav; Lebl, Jan; Zeman, Jiří; Kovács, László

    2016-09-01

    Familial neurohypophyseal diabetes insipidus (FNDI) is a rare hereditary disorder with unknown prevalence characterized by arginine-vasopressin hormone (AVP) deficiency resulting in polyuria and polydipsia from early childhood. We report the clinical manifestation and genetic test results in seven unrelated kindreds of Czech or Slovak origin with FNDI phenotype. The age of the sign outset ranged from 2 to 17 years with remarkable interfamilial and intrafamilial variability. Inconclusive result of the fluid deprivation test in three children aged 7 and 17 years old might cause misdiagnosis; however, the AVP gene analysis confirmed the FNDI. The seven families segregated together five different mutations, two of them were novel (c.164C > A, c.298G > C). In addition, DNA analysis proved mutation carrier status in one asymptomatic 1-year-old infant. The present study together with previously published data identified 38 individuals with FNDI in the studied population of 16 million which predicts a disease prevalence of 1:450,000 for the Central European region. The paper underscores that diagnostic water deprivation test may be inconclusive in polyuric children with partial diabetes insipidus and points to the clinical importance and feasibility of molecular genetic testing for AVP gene mutations in the proband and her/his first degree relatives. • At least 70 different mutations were reported to date in about 100 families with neurohypophyseal diabetes insipidus (FNDI), and new mutations appear sporadically. What is New: • Two novel mutations of the AVP gene are reported • The importance of molecular testing in children with polyuria and inconclusive water deprivation test is emphasized.

  3. Diagnosis and Management of Combined Central Diabetes Insipidus and Cerebral Salt Wasting Syndrome After Traumatic Brain Injury.

    Science.gov (United States)

    Wu, Xuehai; Zhou, Xiaolan; Gao, Liang; Wu, Xing; Fei, Li; Mao, Ying; Hu, Jin; Zhou, Liangfu

    2016-04-01

    Combined central diabetes insipidus and cerebral salt wasting syndrome after traumatic brain injury (TBI) is rare, is characterized by massive polyuria leading to severe water and electrolyte disturbances, and usually is associated with very high mortality mainly as a result of delayed diagnosis and improper management. We retrospectively reviewed the clinical presentation, management, and outcomes of 11 patients who developed combined central diabetes insipidus and cerebral salt wasting syndrome after traumatic brain injury to define distinctive features for timely diagnosis and proper management. The most typical clinical presentation was massive polyuria (10,000 mL/24 hours or >1000 mL/hour) refractory to vasopressin alone but responsive to vasopressin plus cortisone acetate. Other characteristic presentations included low central venous pressure, high brain natriuretic peptide precursor level without cardiac dysfunction, high 24-hour urine sodium excretion and hypovolemia, and much higher urine than serum osmolarity; normal serum sodium level and urine specific gravity can also be present. Timely and adequate infusion of sodium chloride was key in treatment. Of 11 patients, 5 had a good prognosis 3 months later (Extended Glasgow Outcome Scale score ≥6), 1 had an Extended Glasgow Outcome Scale score of 4, 2 died in the hospital of brain hernia, and 3 developed a vegetative state. For combined diabetes insipidus and cerebral salt wasting syndrome after traumatic brain injury, massive polyuria is a major typical presentation, and intensive monitoring of fluid and sodium status is key for timely diagnosis. To achieve a favorable outcome, proper sodium chloride supplementation and cortisone acetate and vasopressin coadministration are key. Copyright © 2016 Elsevier Inc. All rights reserved.

  4. [Vasopressin V2 receptor-related pathologies: congenital nephrogenic diabetes insipidus and nephrogenic syndrome of inappropiate antidiuresis].

    Science.gov (United States)

    Morin, Denis

    2014-12-01

    Congenital nephrogenic diabetes insipidus is a rare hereditary disease with mainly an X-linked inheritance (90% of the cases) but there are also autosomal recessive and dominant forms. Congenital nephrogenic diabetes insipidus is characterized by a resistance of the renal collecting duct to the action of the arginine vasopressin hormone responsible for the inability of the kidney to concentrate urine. The X-linked form is due to inactivating mutations of the vasopressin 2 receptor gene leading to a loss of function of the mutated receptors. Affected males are often symptomatic in the neonatal period with a lack of weight gain, dehydration and hypernatremia but mild phenotypes may also occur. Females carrying the mutation may be asymptomatic but, sometimes, severe polyuria is found due to the random X chromosome inactivation. The autosomal recessive and dominant forms, occurring in both genders, are linked to mutations in the aquaporin-2 gene. The treatment remains difficult, especially in infants, and is based on a low osmotic diet with increased water intake and the use of thiazides and indomethacin. The main goal is to avoid hypernatremic episodes and maintain a good hydration state. Potentially, specific treatment, in some cases of X-linked congenital nephrogenic diabetes insipidus, with pharmacological chaperones such as non-peptide vasopressin-2 receptor antagonists will be available in the future. Conversely, the nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is linked to a constitutive activation of the V(2)-receptor due to activating mutations with clinical and biological features of inappropriate antidiuresis but with low or undetectable plasma arginine vasopressin hormone levels. Copyright © 2014 Association Société de néphrologie. Published by Elsevier SAS. All rights reserved.

  5. Transient polyuria related to central diabetes insipidus caused by lymphocytic infundibulo-neurohypophysitis in a patient treated for Graves' disease.

    Science.gov (United States)

    Yamazaki, Masanori; Sato, Ai; Nishio, Shin-ichi; Uehara, Takeshi; Komatsu, Mitsuhisa

    2010-01-01

    A 45-year-old man was hospitalized because of weight loss, finger tremor, thirst, polydipsia and increased urinary frequency. He was diagnosed with Graves' disease (GD) and central diabetes insipidus (CDI). Magnetic resonance imaging revealed the enlarged posterior pituitary with thickened stalk. Histological examination obtained from biopsy of the pituitary revealed lymphocytic infundibulo-neurohypophysitis. He received treatment with thiamazole (MMI) for GD and desmopressin acetate (DDAVP) for CDI. However, DDAVP administration could be discontinued as GD was gradually improved. This course indicates that not only the recovered renal response to arginine-vasopressin but also the immunomodulative effects of MMI might attribute to the improvement of polyuria.

  6. Clinical Predictors of Diabetes Insipidus After Transcranial Surgery for Pituitary Adenoma.

    Science.gov (United States)

    Wang, Songquan; Li, Deling; Ni, Ming; Jia, Wang; Zhang, Qing; He, Jue; Jia, Guijun

    2017-05-01

    Diabetes insipidus (DI) is a well-known complication of transsphenoidal pituitary adenoma surgery. However, the risk factors for DI after transcranial surgery have not been clarified. In this study, the clinical parameters for predicting DI after transcranial surgery were investigated. The perioperative records of 90 patients who underwent transcranial (TC) surgery at the authors' institution between November 2011 and March 2013 were chosen from 1657 patients with pituitary adenoma and retrospectively analyzed. The degree of deformation of the third ventricle and hypothalamus were assessed by preoperative magnetic resonance imaging. Immediate postoperative DI was found in 30 patients (33.3%). Persistent DI was noted in 11 patients (12.6%). Compared with patients in the nonpostoperative DI group, those with postoperative DI had a higher degree of deformation of the third ventricle and hypothalamus (P < 0.001). In a binary logistic regression analysis, the degree of deformation of the third ventricle and hypothalamus (odds ratio [OR], 3.079; 95% confidence interval [CI], 1.600-5.925; P = 0.001) had a significant positive correlation with immediate postoperative DI, as well as postoperative hemorrhage (OR, 6.235, 95% CI, 1.457-26.689; P = 0.014). Postoperative hemorrhage (OR, 4.363; 95% CI, 1.021-18.647; P = 0.047) showed a positive correlation with permanent DI, as well as the degree of deformation of the third ventricle and hypothalamus (OR, 2.336; 95% CI, 1.005-5.427; P = 0.049). The degree of deformation of the third ventricle and hypothalamus assessed by preoperative magnetic resonance imaging may help to predict postoperative DI. Postoperative hemorrhage might increase the incidence of postoperative DI, whether it is immediate postoperative DI or permanent DI. Copyright © 2017 Elsevier Inc. All rights reserved.

  7. Diabetes insipidus following neurosurgery at a university hospital in Western Saudi Arabia

    Directory of Open Access Journals (Sweden)

    Faiza A. Qari

    2016-02-01

    Full Text Available Objectives: To review the incidence, spectrum of clinical manifestation, course, risk factors, as well as treatment of diabetes insipidus (DI following neurosurgery of the pituitary gland. Methods: The files of 24 patients that underwent neurosurgery for sellar lesions, or tumor near the hypothalamus or pituitary gland at the Department of Neurosurgery, King Abdulaziz University Hospital, Jeddah, Kingdom of Saudi Arabia were retrospectively reviewed between January 2011 to December 2014. A total of 24 patients were studied, and were divided into 2 groups namely; DI and non-DI. Patient characteristics were studied using descriptive statistics. The differences in proportion between the 2 groups were found out using Z-test for proportion in 2 populations. The mean differences in the hormonal abnormalities for the 2 groups were assessed using independent t-test. All statistics are considered statistically significant when p less than 0.05. Results: During hospitalization, 13 (54.2% out of 24 patient that underwent neurosurgery had manifestations of DI, which was transient in 5 (38.8% and permanent in 8 (61.2%. The DI subgroup contained higher prevalence of prolactinoma, craniopharyngioma, pre-operative panhypopituitarism, and macroadenoma in MRI imaging and transphenoidal surgery. Furthermore, urine osmolality was significantly lower in the DI group post-operatively with a significant p=0.023. It was recognized that the permanent DI documented more significant numbers than other studies. Conclusion: In our study group, it was recognized that permanent DI meant that our patients needed desmopressin for more than 3 months, which documented a more significant number than other studies.

  8. Diabetes insipidus following neurosurgery at a university hospital in Western Saudi Arabia.

    Science.gov (United States)

    Qari, Faiza A; AbuDaood, Elaff A; Nasser, Tariq A

    2016-02-01

    To review the incidence, spectrum of clinical manifestation, course, risk factors, as well as treatment of diabetes insipidus (DI) following neurosurgery of the pituitary gland. The files of 24 patients that underwent neurosurgery for sellar lesions, or tumor near the hypothalamus or pituitary gland at the Department of Neurosurgery, King Abdulaziz University Hospital, Jeddah, Kingdom of Saudi Arabia were retrospectively reviewed between January 2011 to December 2014. A total of 24 patients were studied, and were divided into 2 groups namely; DI and non-DI. Patient characteristics were studied using descriptive statistics. The differences in proportion between the 2 groups were found out using Z-test for proportion in 2 populations. The mean differences in the hormonal abnormalities for the 2 groups were assessed using independent t-test. All statistics are considered statistically significant when p less than 0.05. During hospitalization, 13 (54.2%) out of 24 patient that underwent neurosurgery had manifestations of DI, which was transient in 5 (38.8%) and permanent in 8 (61.2%). The DI subgroup contained higher prevalence of prolactinoma, craniopharyngioma, pre-operative panhypopituitarism, and macroadenoma in MRI imaging and transphenoidal surgery. Furthermore, urine osmolality was significantly lower in the DI group post-operatively with a significant p=0.023. It was recognized that the permanent DI documented more significant numbers than other studies. In our study group, it was recognized that permanent DI meant that our patients needed desmopressin for more than 3 months, which documented a more significant number than other studies.

  9. Aliskiren increases aquaporin-2 expression and attenuates lithium-induced nephrogenic diabetes insipidus.

    Science.gov (United States)

    Lin, Yu; Zhang, Tiezheng; Feng, Pinning; Qiu, Miaojuan; Liu, Qiaojuan; Li, Suchun; Zheng, Peili; Kong, Yonglun; Levi, Moshe; Li, Chunling; Wang, Weidong

    2017-10-01

    The direct renin inhibitor aliskiren has been shown to be retained and persist in medullary collecting ducts even after treatment is discontinued, suggesting a new mechanism of action for this drug. The purpose of the present study was to investigate whether aliskiren regulates renal aquaporin expression in the collecting ducts and improves urinary concentrating defect induced by lithium in mice. The mice were fed with either normal chow or LiCl diet (40 mmol·kg dry food -1 ·day -1 for 4 days and 20 mmol·kg dry food -1 ·day -1 for the last 3 days) for 7 days. Some mice were intraperitoneally injected with aliskiren (50 mg·kg body wt -1 ·day -1 in saline). Aliskiren significantly increased protein abundance of aquaporin-2 (AQP2) in the kidney inner medulla in mice. In inner medulla collecting duct cell suspension, aliskiren markedly increased AQP2 and phosphorylated AQP2 at serine 256 (pS256-AQP2) protein abundance, which was significantly inhibited both by adenylyl cyclase inhibitor MDL-12330A and by PKA inhibitor H89, indicating an involvement of the cAMP-PKA signaling pathway in aliskiren-induced increased AQP2 expression. Aliskiren treatment improved urinary concentrating defect in lithium-treated mice and partially prevented the decrease of AQP2 and pS256-AQP2 protein abundance in the inner medulla of the kidney. In conclusion, the direct renin inhibitor aliskiren upregulates AQP2 protein expression in inner medullary collecting duct principal cells and prevents lithium-induced nephrogenic diabetes insipidus likely via cAMP-PKA pathways. Copyright © 2017 the American Physiological Society.

  10. The clinical course and pathophysiological investigation of adolescent gestational diabetes insipidus: a case report.

    Science.gov (United States)

    Kondo, Tatsuya; Nakamura, Miwa; Kitano, Sayaka; Kawashima, Junji; Matsumura, Takeshi; Ohba, Takashi; Yamaguchi, Munekage; Katabuchi, Hidetaka; Araki, Eiichi

    2018-01-30

    Gestational diabetes insipidus (GDI) is a rare endocrine complication during pregnancy that is associated with vasopressinase overproduction from the placenta. Although increased vasopressinase is associated with placental volume, the regulation of placental growth in the later stage of pregnancy is not well known. A 16-year-old pregnant woman was urgently transferred to our hospital because of threatened premature labor when the Kumamoto earthquakes hit the area where she lived. During her hospitalization, she complained of gradually increasing symptoms of polyuria and polydipsia. The serum level of arginine vasopressin (AVP) was 1.7 pg/mL, which is inconsistent with central DI. The challenge of diagnostic treatment using oral 1-deamino-8-D-AVP (DDAVP) successfully controlled her urine and allowed for normal delivery. DDAVP tablets were not necessary to control her polyuria thereafter. Based on these observations, clinical diagnosis of GDI was confirmed. Pathophysiological analyses revealed that vasopressinase expression was more abundant in the GDI patient's syncytiotrophoblast in placenta compared with that in a control subject. Serum vasopressinase was also observed during gestation and disappeared soon after delivery. Vasopressinase is reportedly identical to oxytocinase or insulin regulated aminopeptidase (IRAP), which is an abundant cargo protein associated with the glucose transporter 4 (GLUT4) storage vesicle. Interestingly, the expression and subcellular localization of GLUT4 appeared to occur in a vasopressinase (IRAP)-dependent manner. Because placental volume may be associated with vasopressinase overproduction in GDI, vasopressinase (IRAP)/GLUT4 association appears to contribute to the growth of placenta in this case.

  11. Recurring dominant-negative mutations in the AVP-NPII gene cause neurohypophyseal diabetes insipidus

    Energy Technology Data Exchange (ETDEWEB)

    Repaske, D.R. [Children`s Hospital Medical Center, Cincinnati, OH (United States); Phillips, J.A.; Krishnamani, M.R.S. [Vanderbilt Univ. School of Medicine, Nashville, TN (United States)] [and others

    1994-09-01

    Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) is a familial form of arginine vasopressin (or antidiuretic hormone) deficiency that is usually manifest in early childhood with polyuria, polydipsia and an antidiuretic response to exogenous vasopressin or its analogs. The phenotype is postulated to arise from gliosis and depletion of the magnocellular neurons that produce vasopressin in the supraoptic and paraventricular nuclei of the hypothalamus. ADNDI is caused by heterozygosity for a variety of mutations in the AVP-NPII gene which encodes vasopressin, its carrier protein (NPII) and a glycoprotein (copeptin) of unknown function. These mutations include: (1) Ala 19{r_arrow}Thr (G279A) in AVP`s signal peptide, (2) Gly 17{r_arrow}Val (G1740T), (3) Pro 24{r_arrow}Leu (C1761T), (4) Gly 57{r_arrow}Ser (G1859A) and (5) del Glu 47({delta}AGG 1824-26), all of which occur in NPII. In characterizing the AVP-NPII mutations in five non-related ADNDI kindreds, we have detected two kindreds having mutation 1 (G279A), two having mutation 3 (C1761T) and one having mutation 4 (G1859A) without any other allelic changes being detected. Two of these recurring mutations (G279A and G1859A) are transitions that occur at CpG dinucleotides while the third (C1761T) does not. Interestingly, families with the same mutations differed in their ethnicity or in their affected AVP-NPII allele`s associated haplotype of closely linked DNA polymorphisms. Our data indicated that at least three of five known AVP-NPII mutations causing ADNDI tend to recur but the mechanisms by which these dominant-negative mutations cause variable or progressive expression of the ADNDI phenotype remain unclear.

  12. Expression of three different mutations in the arginine vasopressin gene suggests genotype-phenotype correlation in familial neurohypophyseal diabetes insipidus kindreds

    DEFF Research Database (Denmark)

    Siggaard, Charlotte; Christensen, Jane Hvarregaard; Corydon, Thomas Juhl

    2005-01-01

    OBJECTIVE AND STUDY DESIGN: The autosomal dominant form of familial neurohypophyseal diabetes insipidus (adFNDI) is a rare disease characterized by a severe and progressive deficiency of AVP secondary to mutations in the gene encoding the AVP precursor. Whereas a number of studies have investigated...

  13. The water deprivation test and a potential role for the arginine vasopressin precursor copeptin to differentiate diabetes insipidus from primary polydipsia

    NARCIS (Netherlands)

    de Fost, M.; Oussaada, S. M.; Endert, E.; Linthorst, G. E.; Serlie, M. J.; Soeters, M. R.; DeVries, J. H.; Bisschop, P. H.; Fliers, E.

    2015-01-01

    The water deprivation test is the gold standard test to differentiate central or nephrogenic diabetes insipidus (DI) from primary polydipsia (PP) in patients with polyuria and polydipsia. Few studies have addressed the diagnostic performance of this test. The aim of this retrospective cohort study

  14. Clinical and molecular evidence of abnormal processing and trafficking of the vasopressin preprohormone in a large kindred with familial neurohypophyseal diabetes insipidus due to a signal peptide mutation

    DEFF Research Database (Denmark)

    Siggaard, C; Rittig, S; Corydon, T J

    1999-01-01

    The autosomal dominant form of familial neurohypophyseal diabetes insipidus (adFNDI) is a rare disease characterized by postnatal onset of polyuria and a deficient neurosecretion of the antidiuretic hormone, arginine vasopressin (AVP). Since 1991, adFNDI has been linked to 31 different mutations...

  15. Induced pluripotent stem cells derived from a patient with autosomal dominant familial neurohypophyseal diabetes insipidus caused by a variant in the AVP gene

    DEFF Research Database (Denmark)

    Toustrup, Lise Bols; Zhou, Yan; Kvistgaard, Helene

    2017-01-01

    Autosomal dominant familial neurohypophyseal diabetes insipidus (adFNDI) is caused by variants in the arginine vasopressin (AVP) gene. Here we report the generation of induced pluripotent stem cells (iPSCs) from a 42-year-old man carrying an adFNDI causing variant in exon 1 of the AVP gene using...

  16. Central diabetes insipidus associated with impaired renal aquaporin-1 expression in mice lacking liver X receptor β.

    Science.gov (United States)

    Gabbi, Chiara; Kong, Xiaomu; Suzuki, Hitoshi; Kim, Hyun-Jin; Gao, Min; Jia, Xiao; Ohnishi, Hideo; Ueta, Yoichi; Warner, Margaret; Guan, Youfei; Gustafsson, Jan-Åke

    2012-02-21

    The present study demonstrates a key role for the oxysterol receptor liver X receptor β (LXRβ) in the etiology of diabetes insipidus (DI). Given free access to water, LXRβ(-/-) but not LXRα(-/-) mice exhibited polyuria (abnormal daily excretion of highly diluted urine) and polydipsia (increased water intake), both features of diabetes insipidus. LXRβ(-/-) mice responded to 24-h dehydration with a decreased urine volume and increased urine osmolality. To determine whether the DI was of central or nephrogenic origin, we examined the responsiveness of the kidney to arginine vasopressin (AVP). An i.p. injection of AVP to LXRβ(-/-) mice revealed a partial kidney response: There was no effect on urine volume, but there was a significant increase of urine osmolality, suggesting that DI may be caused by a defect in central production of AVP. In the brain of WT mice LXRβ was expressed in the nuclei of magnocellular neurons in the supraoptic and paraventricular nuclei of the hypothalamus. In LXRβ(-/-) mice the expression of AVP was markedly decreased in the magnocellular neurons as well as in urine collected over a 24-h period. The persistent high urine volume after AVP administration was traced to a reduction in aquaporin-1 expression in the kidney of LXRβ(-/-) mice. The LXR agonist (GW3965) in WT mice elicited an increase in urine osmolality, suggesting that LXRβ is a key receptor in controlling water balance with targets in both the brain and kidney, and it could be a therapeutic target in disorders of water balance.

  17. Diabetes insipidus como manifestação inicial de leucemia mieloide aguda em paciente com monossomia do cromossomo 7

    Directory of Open Access Journals (Sweden)

    Amanda Dias Lima Morais

    2017-04-01

    Full Text Available O diabetes insipidus (DI central é uma síndrome caracterizada pela incapacidade de concentração urinária devido à deficiência do hormônio antidiurético. O envolvimento do sistema nervoso central é frequente nas leucemias, mas a ocorrência de DI é rara e confere pior prognóstico. A patogênese do DI na leucemia não é totalmente conhecida, mas a infiltração do eixo hipotálamo-hipofisário por células leucêmicas parece ser um fator responsável. O presente relato descreve o caso de um paciente que apresentou DI como primeira manifestação de leucemia mieloide aguda e que evoluiu com dificuldades de ajustes do sódio sérico, da poliúria e da reposição volêmica, necessitando de permanência prolongada em unidade de cuidados intensivos. Palavras-chave: diabetes insipidus; leucemia mieloide aguda; monossomia; cromossomo 7.

  18. A novel AVPR2 gene mutation of X-linked congenital nephrogenic diabetes insipidus in an Asian pedigree.

    Science.gov (United States)

    Guo, Wei-Hong; Li, Qiang; Wei, Hong-Yan; Lu, Hong-Yan; Qu, Hui-Qi; Zhu, Mei

    2016-10-01

    Polyuria and polydipsia are the characteristics of congenital nephrogenic diabetes insipidus (CNDI). Approximately 90% of all patients with CNDI have X-linked hereditary disease, which is due to a mutation of the arginine vasopressin receptor 2 ( AVPR2) gene. This case report describes a 54-year-old male with polyuria and polydipsia and several male members of his pedigree who had the same symptoms. The proband was diagnosed with diabetes insipidus using a water-deprivation and arginine vasopressin stimulation test. Genomic DNA from the patient and his family members was extracted and the AVPR2 gene was sequenced. A novel missense mutation of a cytosine to guanine transition at position 972 (c.972C > G) was found, which resulted in the substitution of isoleucine for methionine at amino acid position 324 (p.I324M) in the seventh transmembrane domain of the protein. The proband's mother and daughter were heterozygous for this mutation. The novel mutation of the AVPR2 gene further broadens the phenotypic spectrum of the AVPR2 gene.

  19. Type III Bartter-like syndrome in an infant boy with Gitelman syndrome and autosomal dominant familial neurohypophyseal diabetes insipidus.

    Science.gov (United States)

    Brugnara, Milena; Gaudino, Rossella; Tedeschi, Silvana; Syrèn, Marie-Louise; Perrotta, Silverio; Maines, Evelina; Zaffanello, Marco

    2014-09-01

    We report the case of an infant boy with polyuria and a familial history of central diabetes insipidus. Laboratory blood tests disclosed hypokalemia, metabolic alkalosis, hyperreninemia, and hyperaldosteronism. Plasma magnesium concentration was slightly low. Urine analysis showed hypercalciuria, hyposthenuria, and high excretion of potassium. Such findings oriented toward type III Bartter syndrome (BSIII). Direct sequencing of the CLCNKB gene revealed no disease-causing mutations. The water deprivation test was positive. Magnetic resonance imaging showed a lack of posterior pituitary hyperintensity. Finally, direct sequencing of the AVP-NPII gene showed a point mutation (c.1884G>A) in a heterozygous state, confirming an autosomal dominant familial neurohypophyseal diabetes insipidus (adFNDI). This condition did not explain the patient's phenotype; thus, we investigated for Gitelman syndrome (GS). A direct sequencing of the SLC12A3 gene showed c.269A>C and c.1205C>A new mutations. In conclusion, the patient had a genetic combination of GS and adFNDI with a BSIII-like phenotype.

  20. Diabetes mellitus, diabetes insipidus, optic atrophy, and deafness: A case of Wolfram (DIDMOAD syndrome

    Directory of Open Access Journals (Sweden)

    Nasrollah Maleki

    2015-09-01

    Conclusion: WS should be considered a differential diagnosis in patients with diabetes mellitus who present with optic atrophy, and it is necessary to perform a hearing test as well as collecting 24-h urine output.

  1. Recovery from diabetes insipidus and preservation of thyroid function after craniopharyngioma removal and pituitary stalk sectioning.

    Science.gov (United States)

    Ogawa, Yoshikazu; Niizuma, Kuniyasu; Tominaga, Teiji

    2017-11-01

    Craniopharyngioma is a slow-growing tumor, but long-term tumor control with maintenance of quality of life is sometimes very difficult to achieve, and hypothalamic disturbance should be strictly avoided in the treatment. However, management of the pituitary gland and/or pituitary stalk varies among surgeons and institutions. This retrospective review identified 44 patients, 24 males and 20 females with craniopharyngiomas who were initially treated by surgery through the extended transsphenoidal approach with pituitary stalk sectioning at a single institute. If the tumor bed involved the posterior lobe of the pituitary gland, pituitary stalk, anterior and/or mid portion of the third ventricle floor, these structures were removed en-bloc together with the tumor. The closest attention was paid to preserve fine arteries running along the surface of optic chiasm and the lateral walls of the third ventricle. Surgical outcome and changes in postoperative endocrinological status were investigated. Gross total removal was achieved in 40 of 44 patients (91%), and all patients could discharge without autonomic and/or thermal disturbances. Tumor remnants were identified with tight adhesion to the perforating arteries in 2 cases, tight adhesion to mammillary bodies in 1, and optic chiasm in 1. Administration of anti-diuretic hormone could be discontinued in 23 of 44 patients (52.3%) with improved diabetes insipidus (DI), although no patient could discontinue glucocorticoid administration. Preservation of thyroid function was achieved in another 23 of 44 patients (52.3%), and recovery from DI was correlated with preservation of thyroid function (p=0.016). Pituitary dysfunction is partially reversible even with pituitary stalk sectioning. Regrowth of tumor in the anterior and/or mid portion of the third ventricle floor including pituitary stalk can possibly be prevented by aggressive tumor removal, and co-achievement of long-term tumor control with maintenance of quality of life

  2. Analysis of clinical course and magnetic resonance imaging of posttraumatic diabetes insipidus

    International Nuclear Information System (INIS)

    Inoue, Yoshiaki; Hirota, Tetsuya; Kohno, Masanobu; Iwai, Atsushi; Abe, Yoshio; Ikeuchi, Hisashi; Yoshioka, Toshiharu

    2002-01-01

    We analyzed the relationship between posttraumatic diabetes insipidus (DI) onset and magnetic resonance imaging (MRI). In the last 5 years, 13 survivors of head injury were diagnosed with DI. We divided them into 2 groups, early and delayed, by DI onset. The early group consisted of 5 patients diagnosed with DI within 12 hours of injury. The delayed group consisted of 8 diagnosed after 12 hours or more. We analyzed differences between groups for factors such as Glasgow coma scale (GCS) on admission, Glasgow outcome scale (GOS) at discharge, DI duration, intracranial pressure (ICP) when diagnosed with DI, maximum ICP during observation, and MRI findings. In the early group, mean onset of DI was about 40 hours earlier than that in the delayed group, 7±2 vs. 47±19 hours, p<0.05. No significant differences were seen between groups for GCS, ISS, or GOS. Although no significant difference was seen in ICP, barbiturate therapy was needed in 7 cases, craniotomy in 4, and hypothermia therapy in 5 to control ICP in the delayed group. Barbiturate therapy was needed in only 2 cases and no indications were seen for craniotomy or hypothermia therapy in the early group. All cases in the delayed group recovered from DI within 3 weeks, but 3 in the early group were diagnosed with permanent DI and 1 needed antidiuretic hormone (ADH) during 75 days. All of the early group was recognized to have hypothalamic injury and diffuse axonal injury in MRI, but none in the delayed group was recognized for these MRI findings. In the delayed group, the high-intensity signal of the posterior pituitary gland in T1 weighted MRI, thought to represent the granule of ADH, disappeared in the early period and reappeared gradually after recovery from DI, but this signal did not reappear in the early group. We therefore conducted that the crucial cause of posttraumatic DI in the early group is direct hypothalamic injury, perhaps due to diffuse axonal injury, and that in the delayed group, secondary

  3. Analysis of clinical course and magnetic resonance imaging of posttraumatic diabetes insipidus

    Energy Technology Data Exchange (ETDEWEB)

    Inoue, Yoshiaki; Hirota, Tetsuya; Kohno, Masanobu; Iwai, Atsushi; Abe, Yoshio; Ikeuchi, Hisashi; Yoshioka, Toshiharu [Osaka Prefectural General Hospital (Japan)

    2002-06-01

    We analyzed the relationship between posttraumatic diabetes insipidus (DI) onset and magnetic resonance imaging (MRI). In the last 5 years, 13 survivors of head injury were diagnosed with DI. We divided them into 2 groups, early and delayed, by DI onset. The early group consisted of 5 patients diagnosed with DI within 12 hours of injury. The delayed group consisted of 8 diagnosed after 12 hours or more. We analyzed differences between groups for factors such as Glasgow coma scale (GCS) on admission, Glasgow outcome scale (GOS) at discharge, DI duration, intracranial pressure (ICP) when diagnosed with DI, maximum ICP during observation, and MRI findings. In the early group, mean onset of DI was about 40 hours earlier than that in the delayed group, 7{+-}2 vs. 47{+-}19 hours, p<0.05. No significant differences were seen between groups for GCS, ISS, or GOS. Although no significant difference was seen in ICP, barbiturate therapy was needed in 7 cases, craniotomy in 4, and hypothermia therapy in 5 to control ICP in the delayed group. Barbiturate therapy was needed in only 2 cases and no indications were seen for craniotomy or hypothermia therapy in the early group. All cases in the delayed group recovered from DI within 3 weeks, but 3 in the early group were diagnosed with permanent DI and 1 needed antidiuretic hormone (ADH) during 75 days. All of the early group was recognized to have hypothalamic injury and diffuse axonal injury in MRI, but none in the delayed group was recognized for these MRI findings. In the delayed group, the high-intensity signal of the posterior pituitary gland in T1 weighted MRI, thought to represent the granule of ADH, disappeared in the early period and reappeared gradually after recovery from DI, but this signal did not reappear in the early group. We therefore conducted that the crucial cause of posttraumatic DI in the early group is direct hypothalamic injury, perhaps due to diffuse axonal injury, and that in the delayed group, secondary

  4. Reappearance of the posterior pituitary bright signal in diabetes insipidus: MR follow-up of germinomas after radiotherapy

    International Nuclear Information System (INIS)

    Lee, Ho Hyu; Suh, Dae Chul; Chang, Hye Sook

    1992-01-01

    Diabetes insipidus (DI) of central origin is a clinical syndrome resulting from low blood levels of antidiuretic hormone secreted from the posterior lobe of the pituitary gland, which is usually caused by lesions involving the hypothalamus-neurohypophyseal axis. MR imaging can reveal absence of the posterior pituitary bright signal (PPBS) in DI. The authors reviewed four patients with intracranial germinomas who had DI due to hypothalamus involvement. All patients before radiotherapy revealed absence of PPBS on MRI. Three cases recovered from DI after radiotherapy and showed reappearance of PPBS. Another one patient who continued DI didn't show signal change of the posterior pituitary gland. We speculated that the reappearance of PPBS is related to clinical improvement of DI

  5. Central diabetes insipidus as a very late relapse limited to the pituitary stalk in Langerhans cell histiocytosis.

    Science.gov (United States)

    Nakagawa, Shunsuke; Shinkoda, Yuichi; Hazeki, Daisuke; Imamura, Mari; Okamoto, Yasuhiro; Kawakami, Kiyoshi; Kawano, Yoshifumi

    2016-07-01

    Central diabetes insipidus (CDI) and relapse are frequently seen in multifocal Langerhans cell histiocytosis (LCH). We present two females with multifocal LCH who developed CDI 9 and 5 years after the initial diagnosis, respectively, as a relapse limited to the pituitary stalk. Combination chemotherapy with cytarabine reduced the mass in the pituitary stalk. Although CDI did not improve, there has been no anterior pituitary hormone deficiency (APHD), neurodegenerative disease in the central nervous system (ND-CNS) or additional relapse for 2 years after therapy. It was difficult to predict the development of CDI in these cases. CDI might develop very late in patients with multifocal LCH, and therefore strict follow-up is necessary, especially with regard to symptoms of CDI such as polydipsia and polyuria. For new-onset CDI with LCH, chemotherapy with cytarabine might be useful for preventing APHD and ND-CNS.

  6. Central diabetes insipidus in a dog with a pro-opiomelanocortin-producing pituitary tumor not causing hyperadrenocorticism

    International Nuclear Information System (INIS)

    Goossens, M.M.C.; Rijnberk, A.; Mol, J.A.; Wolfswinkel, J.; Voorhout, G.

    1995-01-01

    Central diabetes insipidus was diagnosed by vasopressin measurements during hypertonic stimulation in a 9-year-old male giant Schnauzer with polyuria and polydipsia. The impaired release of vasopressin was believed to be caused by a large pituitary tumor, which was visualized by computed tomography. Studies of the function of the anterior lobe and the pars intermedia of the pituitary gland were conducted, and high concentrations of ACTH and alpha-melanotrophic hormone (alpha-MSH) were found without concomitant hyperadrenocorticism. Studies of the molecular size of the immunoreactive ACTH in plasma by gel filtration revealed that most of the circulating immunoreactivity was not ACTH but its precursor pro-opiomelanocortin (POMC) and low-molecular-weight POMC-derived peptides. The pituitary tumor of this dog probably originated from melanotrophic cells of the pars intermedia. The sensitivity of the pituitary-adrenocortical system for the suppressive effect of dexamethasone was unaffected

  7. Diabetes insipidus as the first symptom caused by lung cancer metastasis to the pituitary glands: Clinical presentations, diagnosis, and management

    Directory of Open Access Journals (Sweden)

    J F Mao

    2011-01-01

    Full Text Available Background : Central diabetes insipidus (CDI, secondary to pituitary metastatic lesions, is uncommon; however, lung and breast cancer are the commonest malignancies to have metastases to the pituitary. Early management of systemic chemotherapy and pituitary irradiation might improve the prognosis of patients. Aims : To investigate the clinical features, diagnosis, and management of CDI caused by lung cancer metastasis to the pituitary glands. Materials and Methods : We retrospectively reviewed 10 patients who had CDI as their first symptom before their lung cancers were diagnosed. Their clinical presentations, anterior pituitary gland function, sellar magnetic resonance imaging (MRI, management, and prognosis were described. Settings and Design : This retrospective cross-sectional clinical study was conducted in a medical college hospital. Results : The patient′s mean age was 58.6±7.8 years. Diabetes insipidus was the main complaint when they were referred to our hospital. MRI revealed specific dumbbell-shaped masses in the sella turcica in five patients. In seven patients whose hormones were measured, the levels of hormones from adenohypophysis were abnormally low in six patients. The main treatments included surgery, systemic chemotherapy, and sellar irradiation. Although nine patients had poor prognoses, one patient has survived for more than 3 years, suggesting benefit from early diagnosis and treatment. Conclusions : New-onset CDI might be the only symptom presented by the patients with pituitary metastasis (PM from lung cancer. Dumbbell-shaped sellar masses in MRI are prone to the diagnosis of PM. A thorough examination for primary cancer should be carried out in these aged and elderly patients.

  8. A novel mutation in the AVPR2 gene (222delA) associated with X-linked nephrogenic diabetes insipidus in a boy with growth failure.

    Science.gov (United States)

    Abaci, Ayhan; Wood, Kent; Demir, Korcan; Büyükgebiz, Atilla; Böber, Ece; Kopp, Peter

    2010-01-01

    To study the case of a 2 10/12-year-old boy who had growth failure and delayed bone maturation. We reviewed the history, which revealed that he had had polyuria, polydipsia, lack of weight gain, and frequent vomiting since the age of 5 months. On physical examination, his height was 86 cm (-1.93 standard deviation [SD]), his weight 10.5 kg (-2.67 SD), and he had motor and mental retardation. His maternal great-grandfather also had polyuria and polydipsia (but not diabetes mellitus), suggesting X-linked nephrogenic diabetes insipidus as the underlying cause. The patient underwent a water deprivation-desmopressin test. The coding region of the AVPR2 gene was amplified by polymerase chain reaction and submitted to direct sequence analysis. The water deprivation test confirmed the diagnosis of diabetes insipidus, and administration of desmopressin did not diminish his water secretion. Direct sequencing of the AVPR2 gene revealed a novel deletion of adenine at position 222 (222delA) in exon 2. This mutation is predicted to lead to a frameshift beginning at amino acid 75 and a premature stop codon at position 115 (FS75>115X). His height and weight, as well as his motor skills, improved after initiation of therapy with hydrochlorothiazide and amiloride. Growth delay can be associated with diabetes insipidus. The X-linked nephrogenic diabetes insipidus in this boy is caused by a novel mutation in the AVPR2 gene that is predicted to truncate the receptor protein.

  9. Dilatative uropathy as a manifestation of neurohypophyseal diabetes insipidus due to a novel mutation in the arginine vasopressin-neurophysin-II gene.

    Science.gov (United States)

    Lindenthal, V; Mainberger, A; Morris-Rosendahl, D J; Löning, L; Mayer, W; Müller, H L

    2013-12-01

    Polydypsia and polyuria are frequent symptoms in patients with sellar masses caused by neurohypophyseal diabetes insipidus. Autosomal dominant familial neurohypophyseal diabetes insipidus (adFNDI), a disorder caused by mutations in the arginine vasopressin (AVP) -neurophysin II (NPII) gene, should be considered as a rare differential diagnosis. A delayed diagnosis bears the risk of life-threatening electrolyte imbalances and permanent urinary tract damage, leading to impaired quality of life.We present a Caucasian kindred of at least 4 generations with FNDI.Clinical histories, endocrine para-meters, and results of molecular analyses of the AVP gene are presented with a review of the literature on diabetes insipidus (DI) related urinary tract dilatation.Polyuria and polydipsia were only reported based on explicit and thorough interrogation after more than 4 years of clinical follow-up. A novel heterozygous mutation in the AVP gene was found in all examined symptomatic subjects (c.1-33_c.4del37nt). A literature review revealed that non-obstructive hydronephrosis (NOH) is a rare but known complication of DI.Since increased fluid intake is often a typical familial pattern in adFNDI, it is frequently missed as being pathologic in affected patients, therefore a detailed clinical history of drinking volumes is of critical importance. AVP gene testing is an important component in the confirmation of the diagnosis. Otherwise unexplainable NOH should lead to further investigations and evaluation of rare diseases like FNDI. © Georg Thieme Verlag KG Stuttgart · New York.

  10. Chlorpropamide action on renal concentrating mechanism in rats with hypothalamic diabetes insipidus.

    Science.gov (United States)

    Kusano, E; Braun-Werness, J L; Vick, D J; Keller, M J; Dousa, T P

    1983-10-01

    To determine vasopressin (VP)-potentiating effect of chlorpropamide (CPMD), we studied the effect of CPMD in vivo and in vitro in kidneys and in specific tubule segments of rats with hypothalamic diabetes insipidus, homozygotes of the Brattleboro strain (DI rats). Rats on ad lib. water intake were treated with CPMD (20 mg/100 g body wt s.c. daily) for 7 d. While on ad lib. water intake, the urine flow, urine osmolality, urinary excretion of Na +, K +, creatinine, or total solute excretion did not change. However, corticopapillary gradient of solutes was significantly increased in CPMD-treated rats. Higher tissue osmolality was due to significantly increased concentration of Na +, and to a lesser degree urea, in the medulla and papilla of CPMD-treated rats. Consequently, the osmotic gradient between urine and papillary tissue of CPMD-treated rats (delta = 385 +/- 47 mosM) was significantly (P less than 0.001) higher compared with controls (delta = 150 +/- 26 mosM). Minimum urine osmolality after water loading was higher in CPMD-treated DI rats than in controls. Oxidation of [14C]lactate to 14CO2 coupled to NaCl cotransport was measured in thick medullary ascending limb of Henle's loop (MAL) microdissected from control and CPMD-treated rats. The rate of 14CO2 production was higher (delta + 113% +/- 20; P less than 0.01) in CPMD-treated MAL compared with controls, but 14CO2 production in the presence of 10(-3) M furosemide did not differ between MAL from control and from CPMD-treated rats. These observations suggest that CPMD treatment enhances NaCl transport in MAL. Cyclic AMP metabolism was analyzed in microdissected MAL and in medullary collecting tubule (MCT). MCT from control and from CPMD-treated rats did not differ in the basal or VP-stimulated accumulated of cAMP. The increase in cAMP content elicited by 10(-6) M VP in MAL from CPMD-treated rats (delta + 12.0 +/- 1.8 fmol cAMP/mm) was significantly (P less than 0.02) higher compared with MAL from control rats

  11. Role of adenylyl cyclase 6 in the development of lithium-induced nephrogenic diabetes insipidus

    DEFF Research Database (Denmark)

    Poulsen, Søren Brandt; Kristensen, Tina Bøgelund; Brooks, Heddwen L

    2017-01-01

    knockout (AC6(loxloxCre)) mice had approximately 50% lower urine osmolality and doubled water intake under baseline conditions compared with controls. Dietary Li(+) administration increased water intake and reduced urine osmolality in control, AC6(-/-), and AC6(loxloxCre) mice. Consistent with AC6......(-/-) mice, medullary AQP2 and pS256-AQP2 abundances were lower in AC6(loxloxCre) mice compared with controls under standard conditions, and levels were further reduced after Li(+) administration. AC6(loxloxCre) and control mice had a similar increase in the numbers of proliferating cell nuclear antigen......-positive cells in response to Li(+). However, AC6(loxloxCre) mice had a higher number of H(+)-ATPase B1 subunit-positive cells under standard conditions and after Li(+) administration. Collectively, AC6 has a minor role in Li-NDI development but may be important for determining the intercalated cell...

  12. Exome sequencing finds a novel PCSK1 mutation in a child with generalized malabsorptive diarrhea and diabetes insipidus.

    Science.gov (United States)

    Yourshaw, Michael; Solorzano-Vargas, R Sergio; Pickett, Lindsay A; Lindberg, Iris; Wang, Jiafang; Cortina, Galen; Pawlikowska-Haddal, Anna; Baron, Howard; Venick, Robert S; Nelson, Stanley F; Martín, Martín G

    2013-12-01

    Congenital diarrhea disorders are a group of genetically diverse and typically autosomal recessive disorders that have yet to be well characterized phenotypically or molecularly. Diagnostic assessments are generally limited to nutritional challenges and histologic evaluation, and many subjects eventually require a prolonged course of intravenous nutrition. Here we describe next-generation sequencing techniques to investigate a child with perplexing congenital malabsorptive diarrhea and other presumably unrelated clinical problems; this method provides an alternative approach to molecular diagnosis. We screened the diploid genome of an affected individual, using exome sequencing, for uncommon variants that have observed protein-coding consequences. We assessed the functional activity of the mutant protein, as well as its lack of expression using immunohistochemistry. Among several rare variants detected was a homozygous nonsense mutation in the catalytic domain of the proprotein convertase subtilisin/kexin type 1 gene. The mutation abolishes prohormone convertase 1/3 endoprotease activity as well as expression in the intestine. These primary genetic findings prompted a careful endocrine reevaluation of the child at 4.5 years of age, and multiple significant problems were subsequently identified consistent with the known phenotypic consequences of proprotein convertase subtilisin/kexin type 1 (PCSK1) gene mutations. Based on the molecular diagnosis, alternate medical and dietary management was implemented for diabetes insipidus, polyphagia, and micropenis. Whole-exome sequencing provides a powerful diagnostic tool to clinicians managing rare genetic disorders with multiple perplexing clinical manifestations.

  13. [Perioperative management of a child with central diabetes insipidus who underwent two surgeries before and after desmopressin administration].

    Science.gov (United States)

    Kiriyama, Keiji; Tachibana, Kazuya; Nishimura, Nobuyuki; Takeuchi, Muneyuki; Kinouchi, Keiko

    2013-03-01

    A 14-year-old girl weighing 32 kg was diagnosed with suprasellar tumor causing hydrocephalus, hypothyroidism, adrenal dysfunction and central diabetes insipidus. She was treated with levothyroxine and hydrocortisone and urged to take fluid to replace urine. She was scheduled to undergo ventricular drainage to relieve hydrocephalus prior to tumor resection. For the first surgery, desmopressin was not started and urine output reached 4,000 to 6,000 ml x day(-1), urine osmolality 64 mOsm x l(-1) and urine specific gravity 1.002. Anesthesia was induced with sevoflurane and maintained with propofol and remifentanil. Maintenance fluid was with acetated Ringer's solution and urine loss was replaced with 5% dextrose. Bradycardia and hypotension occurred after intubation, which was treated with volume load. Infusion volume was 750 ml and urine output was 1100 ml during 133 min of anesthesia. Postoperative day 1 nasal desmopressin was started. Ten days later, partial tumor resection was performed. Anesthesia was induced with propofol and fentanyl and maintained with sevoflurane and remifentanil. Infusion volume was 610 ml, urine output 380 ml, and blood loss 151 ml during 344 min of anesthesia. Hemodynamic parameters were stable throughout the procedure. Pathology of the tumor was revealed to be germinoma. Bradycardia and hypotension experienced during the first surgery was suspected to be caused by preoperative hypovolemia brought by polyuria. Desmopressin was proved to be effective to treat excessive urine output and to maintain good perioperative water balance.

  14. Lack of effect of Pitressin on the learning ability of Brattleboro rats with diabetes insipidus using positively reinforced operant conditioning.

    Science.gov (United States)

    Laycock, J F; Gartside, I B

    1985-08-01

    Brattleboro rats with hereditary hypothalamic diabetes insipidus (BDI) received daily subcutaneous injections of vasopressin in the form of Pitressin tannate (0.5 IU/24 hr). They were initially deprived of food and then trained to work for food reward in a Skinner box to a fixed ratio of ten presses for each pellet received. Once this schedule had been learned the rats were given a discrimination task daily for seven days. The performances of these BDI rats were compared with those of rats of the parent Long Evans (LE) strain receiving daily subcutaneous injections of vehicle (arachis oil). Comparisons were also made between these two groups of treated animals and untreated BDI and LE rats studied under similar conditions. In the initial learning trial, both control and Pitressin-treated BDI rats performed significantly better, and manifested less fear initially, than the control or vehicle-injected LE rats when first placed in the Skinner box. Once the initial task had been learned there was no marked difference in the discrimination learning between control or treated BDI and LE animals. These results support the view that vasopressin is not directly involved in all types of learning behaviour, particularly those involving positively reinforced operant conditioning.

  15. Radiological remission and recovery of thirst appreciation after infliximab therapy in adipsic diabetes insipidus secondary to neurosarcoidosis.

    Science.gov (United States)

    O'Reilly, M W; Sexton, D J; Dennedy, M C; Counihan, T J; Finucane, F M; O'Brien, T; O'Regan, A W

    2015-08-01

    Neurosarcoidosis is a rare and aggressive variant of systemic sarcoidosis which may result in hypothalamic-pituitary dysfunction. We report a case of hypothalamic hypopituitarism secondary to neurosarcoidosis complicated by adipsic diabetes insipidus (ADI). Initiation of anti-tumour necrosis factor-α (TNF-α) therapy resulted in both radiological disease remission and recovery of osmoregulated thirst appreciation after 3 months. A 22-year-old man was referred to the endocrinology service with profound weight gain, polyuria and lethargy. Biochemical testing confirmed anterior hypopituitarism while posterior pituitary failure was confirmed by hypotonic polyuria responding to desmopressin. Magnetic resonance imaging (MRI) demonstrated extensive hypothalamic infiltration; neurosarcoidosis was confirmed histologically after excisional cervical lymph node biopsy. Osmoregulated thirst appreciation was normal early in the disease course despite severe hypotonic polyuria. However, subsequent subjective loss of thirst appreciation and development of severe hypernatraemia in the setting of normal cognitive function indicated onset of ADI. Clinical management involved daily weighing, regular plasma sodium measurement, fixed daily fluid intake and oral desmopressin. We initiated immunosuppressive therapy with pulsed intravenous anti-TNF-α therapy (infliximab) after multidisciplinary team consultation. Infliximab therapy resulted in successful radiological disease remission and complete recovery of osmoregulated thirst appreciation. This was confirmed by subjective return of thirst response and maintenance of plasma sodium in the normal range in the absence of close biochemical monitoring. © The Author 2013. Published by Oxford University Press on behalf of the Association of Physicians. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  16. Magnetic resonance imaging of posterior pituitary for evaluation of the neurohypophyseal function in idiopathic and autosomal dominant neurohypophyseal diabetes insipidus

    International Nuclear Information System (INIS)

    Ozata, M.; Tayfun, C.; Kurtaran, K.; Yetkin, I.; Beyhan, Z.; Corakci, A.; Caglayan, S.; Alemdaroglu, A.; Guendogan, M.A.

    1997-01-01

    We investigated the role of MR imaging for evaluation of the functional status of the neurohypophyseal system in both idiopathic central diabetes insipidus (DI) and familial autosomal dominant neurohypophyseal DI. The patients and family with DI were analyzed retrospectively for the presence or absence of posterior pituitary gland hyperintense signal on MR images. A total of 19 adult patients with idiopathic central DI, 7 members of a family with autosomal dominant DI and 20 control subjects were included in the study. Diagnosis of idiopathic DI was based on the presence of central DI in the absence of any alteration that is known to be responsible for DI. The patients were studied retrospectively and the morphology and intensity of the posterior lobe by MR imaging was assessed by blinded reading. In all patients with idiopathic central DI and the affected members of the family, the posterior bright signal was absent while the stalk was normal on MR images. In contrast, normal posterior pituitary bright signal and stalk were found in unaffected members of the family and all control subjects. We conclude that MR imaging of the posterior pituitary lobe can be used to evaluate the functional status of the neurohypophyseal system in idiopathic central DI and familial autosomal dominant DI. (orig.). With 3 figs., 1 tab

  17. In vitro GABA transport in the neurohypophysis from rats with hereditary diabetes insipidus and after osmotic stimulation

    International Nuclear Information System (INIS)

    Hamberger, A.; Norstroem, A.; Sandberg, M.; Svanberg, U.

    1979-01-01

    The present study reports on a series of experiments in which the osmotic state of the animal correlates with the concentration of GABA in the pituitary as well as with uptake and release of exogenous GABA. Male rats (200-250 g) of the Sprague-Dawley strain and Brattleboro rats with hereditary hypothalamic diabetes insipidus (D.I.) were used and the uptake of [ 3 H]GABA into the posterior pituitary, studied. Radioactivity was determined by liquid scintillation spectrometry. The radioactivity expressed as cpm/mg protein did not differ proportionally from that expressed as cpm/mg wet weight among control and experimental rats. For radiolabelling of neurophysin in vivo, L-[ 35 S]cystein-hydrochloride was injected into the supraoptic nucleus. The total release of [ 35 S] was proportional to the release of labelled neurophysin. The endogenous levels of most amino acids in the neurohypophysis did not differ appreciably from those of whole brain. The GABA level in the D.I. glands was close to the detection limit of the method and was reduced compared to control glands. Otherwise, no marked difference appeared between control and D.I. glands. (Auth.)

  18. Identification of a Novel Deletion in AVP-NPII Gene in a Patient with Central Diabetes Insipidus.

    Science.gov (United States)

    Deniz, Ferhat; Acar, Ceren; Saglar, Emel; Erdem, Beril; Karaduman, Tugce; Yonem, Arif; Cagiltay, Eylem; Ay, Seyit Ahmet; Mergen, Hatice

    2015-01-01

    Central Diabetes Insipidus (CDI) is caused by a deficiency of antidiuretic hormone and characterized by polyuria, polydipsia and inability to concentrate urine. Our objective was to present the results of the molecular analyses of AVP-neurophysin II (AVP-NPII) gene in a large familial neurohypophyseal (central) DI pedigree. A male patient and his family members were analyzed and the prospective clinical data were collected. The proband applied to hospital for eligibility to be a recruit in Armed Forces. The patient had severe polyuria (20 L/day), polydipsia (20.5 L/day), fatique, and deep thirstiness. CDI was confirmed with the water deprivation-desmopressin test according to an increase in urine osmolality from 162 mOsm/kg to 432 mOsm/kg after desmopressin acetate injection. To evaluate the coding regions of AVP-NPII gene, polymerase chain reactions were performed and amplified regions were submitted to direct sequence analysis. We detected a heterozygous three base pair deletion at codon 69-70 (207_209delGGC) in exon 2, which lead to a deletion of the amino acid alanine. A three-dimensional protein structure prediction was shown for the deleted AVP-NPII and compared with the wild type. The three base pair deletion may yield an abnormal AVP precursor in neurophysin moiety, but further functional analyses are needed to understand the function of the deleted protein. © 2015 by the Association of Clinical Scientists, Inc.

  19. Home blood sodium monitoring, sliding-scale fluid prescription and subcutaneous DDAVP for infantile diabetes insipidus with impaired thirst mechanism

    Directory of Open Access Journals (Sweden)

    Hameed Shihab

    2012-06-01

    Full Text Available Abstract Background/Aims Infants with diabetes insipidus (DI, especially those with impaired thirst mechanism or hypothalamic hyperphagia, are prone to severe sodium fluctuations, often requiring hospitalization. We aimed to avoid dangerous fluctuations in serum sodium and improve parental independence. Methods A 16-month old girl with central DI, absent thirst mechanism and hyperphagia following surgery for hypothalamic astrocytoma had erratic absorption of oral DDAVP during chemotherapy cycles. She required prolonged hospitalizations for hypernatremia and hyponatremic seizure. Intensive monitoring of fluid balance, weight and clinical assessment of hydration were not helpful in predicting serum sodium. Discharge home was deemed unsafe. Oral DDAVP was switched to subcutaneous (twice-daily injections, starting with 0.01mcg/dose, increasing to 0.024mcg/dose. The parents adjusted daily fluid allocation by sliding-scale, according to the blood sodium level (measured by handheld i-STAT analyser, Abbott. We adjusted the DDAVP dose if fluid allocation differed from maintenance requirements for 3 consecutive days. Results After 2.5 months, sodium was better controlled, with 84% of levels within reference range (135-145 mmol/L vs. only 51% on the old regimen (p = 0.0001. The sodium ranged from 132-154 mmol/L, compared to 120–156 on the old regimen. She was discharged home. Conclusion This practical regimen improved sodium control, parental independence, and allowed discharge home.

  20. Home blood sodium monitoring, sliding-scale fluid prescription and subcutaneous DDAVP for infantile diabetes insipidus with impaired thirst mechanism.

    Science.gov (United States)

    Hameed, Shihab; Mendoza-Cruz, Abel C; Neville, Kristen A; Woodhead, Helen J; Walker, Jan L; Verge, Charles F

    2012-06-09

    Infants with diabetes insipidus (DI), especially those with impaired thirst mechanism or hypothalamic hyperphagia, are prone to severe sodium fluctuations, often requiring hospitalization. We aimed to avoid dangerous fluctuations in serum sodium and improve parental independence. A 16-month old girl with central DI, absent thirst mechanism and hyperphagia following surgery for hypothalamic astrocytoma had erratic absorption of oral DDAVP during chemotherapy cycles. She required prolonged hospitalizations for hypernatremia and hyponatremic seizure. Intensive monitoring of fluid balance, weight and clinical assessment of hydration were not helpful in predicting serum sodium. Discharge home was deemed unsafe. Oral DDAVP was switched to subcutaneous (twice-daily injections, starting with 0.01mcg/dose, increasing to 0.024mcg/dose). The parents adjusted daily fluid allocation by sliding-scale, according to the blood sodium level (measured by handheld i-STAT analyser, Abbott). We adjusted the DDAVP dose if fluid allocation differed from maintenance requirements for 3 consecutive days. After 2.5 months, sodium was better controlled, with 84% of levels within reference range (135-145 mmol/L) vs. only 51% on the old regimen (p = 0.0001). The sodium ranged from 132-154 mmol/L, compared to 120-156 on the old regimen. She was discharged home. This practical regimen improved sodium control, parental independence, and allowed discharge home.

  1. Acute myeloid leukemia with monosomy 7, ectopic virus integration site-1 overexpression and central diabetes insipidus: A case report.

    Science.gov (United States)

    Ma, Hongbing; Yang, Jing; Xiang, Bing; Jia, Yongqian

    2015-06-01

    Central diabetes insipidus (DI) is a rare complication in patients with acute myeloid leukemia (AML), typically occurring in patients with abnormalities of chromosomes 3 or 7. The association between AML with monosomy 7 and DI has been described in a number of studies; however, DI has been rarely reported in cases of ectopic virus integration site-1 ( EVI1 )-positive AML with monosomy 7. The current study reports a case of AML with monosomy 7 and EVI1 overexpression, with central DI as the initial symptom. The patient was an 18-year-old female who presented with polyuria and polydipsia. Bone marrow aspiration revealed 83.5% myeloperoxidase-positive blasts without trilineage myelodysplasia. The karyotype was 45,XX,-7, and the patient presented monosomy 7 and EVI1 overexpression (- 7/EVI1 + ) without 3q aberration. Treatment with induction therapy was unsuccessful. To the best of our knowledge, this is the second case of DI-AML with - 7/EVI1 + and without a 3q aberration. The possible mechanisms associated with EVI1 , monosomy 7 and DI were investigated.

  2. The confounding effect of the development of idiopathic orthostatic edema and thyrotoxcosis on weight fluctuation related to effects on free water clearance in a woman with long-standing surgically induced panhypopituitarism and diabetes insipidus.

    Science.gov (United States)

    Check, J H; Weidner, J

    2015-01-01

    To evaluate the effect of idiopathic orthostatic edema and the effect of thyrotoxicosis on weight fluctuation and fluid retention in the presence of surgically induced panhypopituitarism and diabetes insipidus controlled with hormone replacement. Dextroamphetamine sulfate was used for weight gain when no other etiologic factor was found. Methimazole was used when weight loss occurred when serum T4 and free T4 indicated thyrotoxicosis. Sympathomimetic amine therapy very effectively controlled the weight gain and methimazole controlled the weight loss. Hypopituitarism and diabetes insipidus controlled with hormone replacement do not protect against fluid retention from idiopathic edema.

  3. Acute myeloid leukemia presenting with panhypopituitarism or diabetes insipidus: a case series with molecular genetic analysis and review of the literature.

    Science.gov (United States)

    Cull, Elizabeth H; Watts, Justin M; Tallman, Martin S; Kopp, Peter; Frattini, Mark; Rapaport, Franck; Rampal, Raajit; Levine, Ross; Altman, Jessica K

    2014-09-01

    Central diabetes insipidus (DI) is a rare finding in patients with acute myeloid leukemia (AML), usually occurring in patients with chromosome 3 or 7 abnormalities. We describe four patients with AML and concurrent DI and a fifth patient with AML and panhypopituitarism. Four of five patients had monosomy 7. Three patients had chromosome 3q21q26/EVI-1 gene rearrangements. The molecular genotype of patients with AML and DI is not known. Therefore, we performed gene sequencing of 30 genes commonly mutated in AML in three patients with available leukemia cell DNA. One patient had no identifiable mutations, and two had RUNX1 F158S mutations.

  4. [Clinical case of the month. Renovascular arterial hypertension complicated by diabetes insipidus: report of a case and review of the literature].

    Science.gov (United States)

    Feloni, S; Radermacher, L; Remy, C; Jousten, J; Corman, V

    2013-01-01

    Mrs. A, a 62 year old patient with a history of hypertension, polyuria and polydipsia is hospitalized after a malaise. A severe hypokalemia, which is the cause of the polyuria and polydipsia, is discovered. The presence of hypertension and hypokalemia arises suspicion of a primary hyperaldosteronism and the plasma levels of renin and aldosterone are measured. Elevated aldosterone levels are combined with high plasma renin concentrations which permits to rule out primary hyperaldosteronism. Further explorations reveal a subocclusive ostial stenosis of the right renal artery. A treatment by sartan is instaured, which allows arterial pressure control and kalemia normalization. Chronic hypokalemia can be the cause of tubular nephropathy manifested by nephrogenic diabetes insipidus.

  5. Delayed Occurrence of Diabetes Insipidus After Transsphenoidal Surgery with Radiologic Evaluation of the Pituitary Stalk on Magnetic Resonance Imaging.

    Science.gov (United States)

    Hayashi, Yasuhiko; Aida, Yasuhiro; Sasagawa, Yasuo; Oishi, Masahiro; Kita, Daisuke; Tachibana, Osamu; Ueda, Fumiaki; Nakada, Mitsutoshi

    2018-02-01

    Diabetes insipidus (DI) is a major complication of transsphenoidal surgery (TSS). DI usually occurs within a couple of days after TSS. Delayed occurrence of postoperative DI is rarely observed and its developing mechanisms remain unknown. Six patients were identified as having postoperative delayed DI, which was defined as DI that first occurred 2 or more weeks after TSS. They consisted of 1 male and 5 females, and their mean age was 38.3 years (range, 10-76 years). Five patients were histologically diagnosed with Rathke cleft cyst (RCC), and one had RCC coexisting with prolactin-secreting adenoma. Sequential T1-weighted magnetic resonance imaging was evaluated for hyperintensity (HI) in the pituitary stalk and the posterior lobe, indicating the location of antidiuretic hormone. No patients had any DI before TSS. Delayed DI occurred 2 weeks to 3 months after TSS and persisted for 2 weeks to 5 months. T1-weighted magnetic resonance imaging showed that the HI in the posterior lobe became faint but did not disappear after DI occurrence, and their intensities increased with recovery from DI. In contrast, the HI in the pituitary stalk was found faintly preoperatively and turned clear postoperatively and decreased with recovery from DI. The morphologic patterns were dependent on DI duration. In the delayed occurrence of DI, it was suggested that preoperative antidiuretic hormone transport was mildly congested yet not completely blocked when DI manifested postoperatively. Gradual spreading of inflammation to the infundibulum after RCC removal was considered as 1 possible mechanism of this delayed DI development. Copyright © 2017 Elsevier Inc. All rights reserved.

  6. [The efficacy of desmopressin in the treatment of central diabetes insipidus after resection of chiasmo-sellar region tumors].

    Science.gov (United States)

    Astaf'eva, L I

    Central diabetes insipidus (CDI) is a neuroendocrine disease, the pathogenesis of which is associated with abnormal secretion of the antidiuretic hormone. One of the specific causes of CDI is neurosurgical resection of chiasmatic-sellar region tumors. to study the efficacy and safety of desmopressin in CDI patients after resection of chiasmatic-sellar region (CSR) tumors. Examination and treatment of patients were performed at a hospital for 7-14 days after surgery and then were continued after discharge. During treatment, the following tests were performed: a daily fluid intake and excretion volume, serum levels of sodium, potassium, and glucose twice a day, morning urine specific gravity, and Zimnitsky's test. Twenty-three patients with CSR tumors (11 craniopharyngiomas, 10 pituitary adenomas, 1 skull base chordoma, and 1 CSR meningioma) and CDI after neurosurgical treatment received desmopressin. On treatment, a thirst decrease, a reduced rate of diuresis, a reduced amount of excreted urine, and normalization of the sodium level were observed in all patients. In 12 patients (with pituitary adenoma, skull base chordoma, and meningioma) with transient CDI, desmopressin therapy was discontinued upon regression of symptoms 7-30 days after surgery. Eleven patients with permanent CDI continued to receive the drug at a dose of 1 to 4 doses per day. All patients well tolerated the drug without significant adverse effects. Therapy with desmopressin in the form of a nasal spray (vazomirin) in patients with transient and permanent CDI after resection CSR tumors of various histological nature (craniopharyngiomas, pituitary adenomas, meningiomas, and chordomas) was effective and safe in the early postoperative and long-term postoperative periods.

  7. Arginine vasopressin neuronal loss results from autophagy-associated cell death in a mouse model for familial neurohypophysial diabetes insipidus

    Science.gov (United States)

    Hagiwara, D; Arima, H; Morishita, Y; Wenjun, L; Azuma, Y; Ito, Y; Suga, H; Goto, M; Banno, R; Sugimura, Y; Shiota, A; Asai, N; Takahashi, M; Oiso, Y

    2014-01-01

    Familial neurohypophysial diabetes insipidus (FNDI) characterized by progressive polyuria is mostly caused by mutations in the gene encoding neurophysin II (NPII), which is the carrier protein of the antidiuretic hormone, arginine vasopressin (AVP). Although accumulation of mutant NPII in the endoplasmic reticulum (ER) could be toxic for AVP neurons, the precise mechanisms of cell death of AVP neurons, reported in autopsy studies, remain unclear. Here, we subjected FNDI model mice to intermittent water deprivation (WD) in order to promote the phenotypes. Electron microscopic analyses demonstrated that, while aggregates are confined to a certain compartment of the ER in the AVP neurons of FNDI mice with water access ad libitum, they were scattered throughout the dilated ER lumen in the FNDI mice subjected to WD for 4 weeks. It is also demonstrated that phagophores, the autophagosome precursors, emerged in the vicinity of aggregates and engulfed the ER containing scattered aggregates. Immunohistochemical analyses revealed that expression of p62, an adapter protein between ubiquitin and autophagosome, was elicited on autophagosomal membranes in the AVP neurons, suggesting selective autophagy induction at this time point. Treatment of hypothalamic explants of green fluorescent protein (GFP)-microtubule-associated protein 1 light chain 3 (LC3) transgenic mice with an ER stressor thapsigargin increased the number of GFP-LC3 puncta, suggesting that ER stress could induce autophagosome formation in the hypothalamus of wild-type mice as well. The cytoplasm of AVP neurons in FNDI mice was occupied with vacuoles in the mice subjected to WD for 12 weeks, when 30–40% of AVP neurons are lost. Our data thus demonstrated that autophagy was induced in the AVP neurons subjected to ER stress in FNDI mice. Although autophagy should primarily be protective for neurons, it is suggested that the organelles including ER were lost over time through autophagy, leading to autophagy

  8. Transient Diabetes Insipidus After Discontinuation of Vasopressin in Neurological Intensive Care Unit Patients: Case Series and Literature Review.

    Science.gov (United States)

    Bohl, Michael A; Forseth, James; Nakaji, Peter

    2017-01-01

    Arginine vasopressin (AVP) is a common second-line or third-line vasopressor used in critically ill neurosurgical patients. Neurosurgical indications include hyperdynamic therapy for vasospasm, maintenance of cerebral perfusion pressure in patients with intracranial hypertension, and prevention of hypotension in patients with sepsis. A series of 6 neurosurgical patients receiving AVP infusions developed severe but transient diabetes insipidus (tDI) after cessation of AVP. To our knowledge, no previous reports of this phenomenon in neurosurgical patients have been published. We reviewed the clinical histories, intensive care unit treatment, medication administration records, and laboratory values of these patients, and we found recurrent elevated serum sodium and urine output and decreased urine specific gravity after discontinuation of AVP. Resolution of tDI occurred upon resumption of AVP or administration of desmopressin. Elevated serum sodium levels were often severe, resulting in worsened clinical outcomes. When AVP was resumed, tDI typically recurred if AVP was again tapered and discontinued. Routine administration of desmopressin was useful in controlling sodium levels until the tDI resolved. Recognition of this phenomenon has caused us to change our clinical management of neurosurgical patients receiving AVP. We hypothesize that tDI is caused by downregulation of the V2 receptor mass in the renal distal convoluted tubule and collecting duct cells. When AVP is discontinued, patients develop nephrogenic tDI secondary to decreased V2 receptor binding, which explains why desmopressin is effective in correcting tDI. Future research includes a large prospective study to determine risk factors for tDI, its incidence, and its pathophysiology. Copyright © 2016 Elsevier Inc. All rights reserved.

  9. Secondary nocturnal enuresis related to central diabetes insipidus as an early manifestation of intracranial germinomatous germ cell tumors in a series of male youngsters.

    Science.gov (United States)

    Papaefthimiou, Apostolos; Kyrgios, Ioannis; Kotanidou, Eleni P; Maggana, Ioanna; Mouzaki, Konstantina; Galli-Tsinopoulou, Assimina

    2015-02-01

    Nocturnal enuresis is a common symptom in children. It is usually attributed to benign causes and diagnostic evaluation is not carried out. We report three male young patients initially presenting with short stature and nocturnal enuresis, related to diabetes insipidus, caused by intracranial germinomatous germ cell tumors. In all three cases, water deprivation tests confirmed diabetes insipidus. Extensive endocrinological investigation also showed further hormone deficiencies. Magnetic resonance imaging of the brain revealed the presence of a central nervous system lesion and histology confirmed the final diagnosis. Surgery, radiation with or without chemotherapy was conducted and the patients were treated with hormone replacement therapies. The patients after a long follow-up were free of disease. We present these cases to alert clinicians to bear in mind that the presence of an intracranial germinomatous germ cell tumor should at least be considered in a child presenting with bed wetting, especially if additional symptoms and signs, including late onset puberty and growth delay or morning hypernatremia, may coexist. Copyright © 2014 Elsevier Masson SAS. All rights reserved.

  10. Diffuse malignant lymphoma type B with optic chiasm infiltration, visual disturbances, hypopituitarism, hyperprolactinaemia and diabetes insipidus. Case report and literature review

    International Nuclear Information System (INIS)

    Bolanowski, M.; Kuliszkiewicz-Janus, M.; Sokolska, V.

    2006-01-01

    The case is reported of a 55-year-old man with diffuse malignant lymphoma type B associated with transient optic chiasm infiltration and visual disturbances but with persistent hypopituitarism, hyperprolactinaemia and diabetes insipidus. The patient was administered chemotherapy and radiotherapy. Repeated MR and CT scans showed optic chiasm infiltration, which disappeared in the course of the chemotherapy but then recurred, changed its appearance and finally disappeared again. In the meantime visual disturbances occurred and disappeared during the therapy. Hypopituitarism, diabetes insipidus and hyperprolactinaemia were diagnosed and replacement therapy was administered. Later on abdominal pain occurred, and a CT scan revealed bilateral kidney masses and enlarged retroperitoneal lymph nodes. These were diffuse malignant lymphoma with regional lymphonodulitis in histology. Finally, hydrothorax and hydroretroperitoneum were diagnosed. The patient died as a result of systemic complications of the disease. The length of survival time documented following the hypothalamochiasmatic infiltration and diagnosis of lymphoma makes the case an unusual one for patients with CNS lymphoma. Hormonal disturbances accompanying the suprasellar region infiltration are very important from the practical point of view. (author)

  11. Congenital central diabetes insipidus and optic atrophy in a Wolfram newborn: is there a role for WFS1 gene in neurodevelopment?

    Science.gov (United States)

    Ghirardello, Stefano; Dusi, Elisa; Castiglione, Bianca; Fumagalli, Monica; Mosca, Fabio

    2014-09-26

    Wolfram syndrome (WS) is an autosomal recessive neurodegenerative disorder characterized by diabetes mellitus (DM), optic atrophy (OA), central diabetes insipidus (CDI) and deafness (D). The phenotype of the disease has been associated with several mutations in the WFS1 gene, a nuclear gene localized on chromosome 4. Since the discovery of the association between WFS1 gene and Wolfram syndrome, more than 150 mutations have been identified in WS patients. We previously described the first case of perinatal onset of Wolfram syndrome newborn carrying a segmental uniparental heterodysomy affecting the short arm of chromosome 4 responsible for a significant reduction in wolframin expression. Here we review and discuss the pathophysiological mechanisms that we believe responsible for the perinatal onset of Wolfram syndrome as these data strongly suggest a role for WFS1 gene in foetal and neonatal neurodevelopment. We described a male patient of 30 weeks' gestation with intrauterine growth restriction and poly-hydramnios. During the first days of life, the patient showed a 19% weight loss associated with polyuria and hypernatremia. The presence of persistent hypernatremia (serum sodium 150 mEq/L), high plasma osmolarity (322 mOsm/L) and low urine osmolarity (190 mOsm/l) with a Uosm/Posm ratio diabetes mellitus. By the end of the second year of life, primary non-autoimmune central hypothyroidism and mild neurodevelopment retardation were diagnosed. The analysis of our case, in the light of the most recent literature, suggests a possible role for WFS1 gene in the development of certain brain structures during the fetal period. Wolfram syndrome should be considered in the differential diagnosis of the rare cases of congenital central diabetes insipidus developed in the neonatal period.

  12. For Debate: Personalized Health Care: As Exemplified by Home Sodium Measurements in a Child with Central Diabetes Insipidus and Impaired Thirst Perception.

    Science.gov (United States)

    van der Linde, A A A; van Herwaarden, A E; Oosting, J D; Claahsen-van der Grinten, H L; de Grouw, E P L M

    2018-04-01

    We describe a 6-year old boy with central diabetes insipidus (CDI) caused by destruction of the pituitary gland due to treatment of an optical pathway glioma. He has been treated with chemotherapy and has had several debulking operations over the past years and consequently developed central hypocortisolism, hypothyroidism and CDI. The treatment of CDI was gravely complicated by an impaired thirst perception and compulsive drinking behavior. He was frequently seen at the ER or admitted due to dysregulation of fluid balance. In order to provide better self-reliance, home point of care testing (POCT) sodium measurement was introduced. Realizing POCT sodium measurement resulted in a significant decrease of ER visits and clinical admissions due to dysregulation of fluid balance. This case is an example of personalized health care and has led to better self-reliance and quality of life. Copyright© of YS Medical Media ltd.

  13. Induced pluripotent stem cells derived from a patient with autosomal dominant familial neurohypophyseal diabetes insipidus caused by a variant in the AVP gene

    Directory of Open Access Journals (Sweden)

    Lise Bols Toustrup

    2017-03-01

    Full Text Available Autosomal dominant familial neurohypophyseal diabetes insipidus (adFNDI is caused by variants in the arginine vasopressin (AVP gene. Here we report the generation of induced pluripotent stem cells (iPSCs from a 42-year-old man carrying an adFNDI causing variant in exon 1 of the AVP gene using lentivirus-mediated nuclear reprogramming. The iPSCs carried the expected variant in the AVP gene. Furthermore, the iPSCs expressed pluripotency markers; displayed in vitro differentiation potential to the three germ layers and had a normal karyotype consistent with the original fibroblasts. This iPSC line is useful in future studies focusing on the pathogenesis of adFNDI.

  14. Acute presentation of gestational diabetes insipidus with pre-eclampsia complicated by cerebral vasoconstriction: a case report and review of the published work.

    Science.gov (United States)

    Mor, Amir; Fuchs, Yael; Zafra, Kathleen; Haberman, Shoshana; Tal, Reshef

    2015-08-01

    Gestational diabetes insipidus (GDI) is a rare, self-limited complication of pregnancy. As it is related to excess placental vasopressinase enzyme activity, which is metabolized in the liver, GDI is more common in pregnancies complicated by conditions associated with liver dysfunction. We present a case of a 41-year-old woman at 38 weeks' gestation who presented with pre-eclampsia with severe features, including impaired liver function and renal insufficiency. Following cesarean section she was diagnosed with GDI, which was further complicated by cerebral vasoconstriction as demonstrated by magnetic resonance angiography. This case raises the possibility that cerebral vasoconstriction may be related to the cause of GDI. A high index of suspicion of GDI should be maintained in patients who present with typical signs and symptoms, especially in the setting of pregnancy complications associated with liver dysfunction. © 2015 The Authors. Journal of Obstetrics and Gynaecology Research © 2015 Japan Society of Obstetrics and Gynecology.

  15. Unmasking of Partial Diabetes Insipidus during Stress but Not Maintenance Dosing of Glucocorticoids in an Infant with Septo-Optic Dysplasia

    Directory of Open Access Journals (Sweden)

    Loechner KarenJ

    2011-03-01

    Full Text Available Background. It is well acknowledged that glucocorticoid (GC replacement can unmask diabetes insipidus (DI in subjects with hypopituitarism. Objective. To increase the awareness and monitoring for transient and symptomatic DI in children with partial hypopituitarism during periods in which increased GC needs are required. Methods/Case. A 2-month-old female infant with septo-optic dysplasia (SOD; on thyroid and maintenance GC replacement therapy at 8 mg/m2/day developed transient DI during 2 separate episodes of stress (one hypothermia, one febrile when stress dosing of GC (25 mg/m2/day was instituted. Conclusion. Children not diagnosed with DI during initial evaluation for hypopituitarism may benefit from rescreening of serum sodium levels during acute periods of stress that demand "stress" GC dosing. This will permit treatment and/or increased vigilance for ensuing permanent DI.

  16. Overlap of Post-obstructive Diuresis and Unmasked Diabetes Insipidus in a Case of IgG4-related Retroperitoneal Fibrosis and Tuberoinfundibular Hypophysitis: A Case Report and Review of the Literature.

    Science.gov (United States)

    Sasaki Yatabe, Midori; Watanabe, Kimio; Hayashi, Yoshimitsu; Yatabe, Junichi; Morimoto, Satoshi; Ichihara, Atsuhiro; Nakayama, Masaaki; Watanabe, Tsuyoshi

    The clinical picture of IgG4-related disease (IgG4-RD) is diverse because various organs can be affected. We describe the case of a 56-year-old man with acute renal failure and tuberoinfundibular hypophysitis due to IgG4-RD. Steroid therapy lowered the serum IgG4 level and ameliorated renal dysfunction, bilateral hydronephrosis and retroperitoneal fibrosis. However, polyuria from post-obstructive diuresis and unmasked central diabetes insipidus ensued. The patient's polyuria continued despite the administration of a therapeutic dose of glucocorticoid; the patient's pituitary swelling and anterior pituitary dysfunction were partially ameliorated. The pituitary swelling recurred seven months later. In patients with IgG4-RD, the manifestation of polyuria after steroid therapy should prompt suspicion of post-obstructive diuresis and the unmasking of central diabetes insipidus.

  17. Non-Destructive Inspection Lab (NDI)

    Data.gov (United States)

    Federal Laboratory Consortium — The NDI specializes in applied research, development and performance of nondestructive inspection procedures (flourescent penetrant, magnetic particle, ultrasonics,...

  18. Delayed recovery of adipsic diabetes insipidus (ADI) caused by elective clipping of anterior communicating artery and left middle cerebral artery aneurysms.

    Science.gov (United States)

    Tan, Jeffrey; Ndoro, Samuel; Okafo, Uchenna; Garrahy, Aoife; Agha, Amar; Rawluk, Danny

    2016-12-16

    Adipsic diabetes insipidus (ADI) is an extremely rare complication following microsurgical clipping of anterior communicating artery aneurysm (ACoA) and left middle cerebral artery (MCA) aneurysm. It poses a significant challenge to manage due to an absent thirst response and the co-existence of cognitive impairment in our patient. Recovery from adipsic DI has hitherto been reported only once. A 52-year-old man with previous history of clipping of left posterior communicating artery aneurysm 20 years prior underwent microsurgical clipping of ACoA and left MCA aneurysms without any intraoperative complications. Shortly after surgery, he developed clear features of ADI with adipsic severe hypernatraemia and hypotonic polyuria, which was associated with cognitive impairment that was confirmed with biochemical investigations and cognitive assessments. He was treated with DDAVP along with a strict intake of oral fluids at scheduled times to maintain eunatremia. Repeat assessment at six months showed recovery of thirst and a normal water deprivation test. Management of ADI with cognitive impairment is complex and requires a multidisciplinary approach. Recovery from ADI is very rare, and this is only the second report of recovery in this particular clinical setting.

  19. Ovulation induction with pulsatile gonadotropin-releasing hormone (GnRH) or gonadotropins in a case of hypothalamic amenorrhea and diabetes insipidus.

    Science.gov (United States)

    Georgopoulos, N A; Markou, K B; Pappas, A P; Protonatariou, A; Vagenakis, G A; Sykiotis, G P; Dimopoulos, P A; Tzingounis, V A

    2001-12-01

    Hypothalamic amenorrhea is a treatable cause of infertility. Our patient was presented with secondary amenorrhea and diabetes insipidus. Cortisol and prolactin responded normally to a combined insulin tolerance test (ITT) and thyrotropin-releasing hormone (TRH) challenge, while thyroid-stimulating hormone (TSH) response to TRH was diminished, and no response of growth hormone to ITT was detected. Both luteinizing hormone (LH) and follicle-stimulating hormone (FSH) levels increased following gonadotropin-releasing hormone (GnRH) challenge. No response of LH to clomiphene citrate challenge was detected. Magnetic resonance imaging findings demonstrated a midline mass occupying the inferior hypothalamus, with posterior lobe not visible and thickened pituitary stalk. Ovulation induction was carried out first with combined human menopausal gonadotropins (hMG/LH/FSH) (150 IU/day) and afterwards with pulsatile GnRH (150 ng/kg/pulse). Ovulation was achieved with both pulsatile GnRH and combine gonadotropin therapy. Slightly better results were achieved with the pulsatile GnRH treatment.

  20. Case report of severe Cushing's syndrome in medullary thyroid cancer complicated by functional diabetes insipidus, aortic dissection, jejunal intussusception, and paraneoplastic dysautonomia: remission with sorafenib without reduction in cortisol concentration.

    Science.gov (United States)

    Hammami, Muhammad M; Duaiji, Najla; Mutairi, Ghazi; Aklabi, Sabah; Qattan, Nasser; Abouzied, Mohei El-Din M; Sous, Mohamed W

    2015-09-09

    Normalization of cortisol concentration by multikinase inhibitors have been reported in three patients with medullary thyroid cancer-related Cushing's syndrome. Aortic dissection has been reported in three patients with Cushing's syndrome. Diabetes insipidus without intrasellar metastasis, intestinal intussusception, and paraneoplastic dysautonomia have not been reported in medullary thyroid cancer. An adult male with metastatic medullary thyroid cancer presented with hyperglycemia, hypernatremia, hypokalemia, hypertension, acne-like rash, and diabetes insipidus (urine volume >8 L/d, osmolality 190 mOsm/kg). Serum cortisol, adrenocorticoitropic hormone, dehydroepiandrostenedione sulfate, and urinary free cortisol were elevated 8, 20, 4.4, and 340 folds, respectively. Pituitary imaging was normal. Computed tomography scan revealed jejunal intussusception and incidental abdominal aortic dissection. Sorafenib treatment was associated with Cushing's syndrome remission, elevated progesterone (>10 fold), normalization of dehydroepiandrostenedione sulfate, but persistently elevated cortisol concentration. Newly-developed proximal lower limb weakness and decreased salivation were associated with elevated ganglionic neuronal acetylcholine receptor (alpha-3) and borderline P/Q type calcium channel antibodies. Extreme cortisol concentration may have contributed to aortic dissection and suppressed antidiuretic hormone secretion; which combined with hypokalemia due cortisol activation of mineralocorticoid receptors, manifested as diabetes insipidus. This is the first report of paraneoplastic dysautonomia and jejunal intussusception in medullary thyroid cancer, they may be related to medullary thyroid cancer's neuroendocrine origin and metastasis, respectively. Remission of Cushing's syndrome without measurable reduction in cortisol concentration suggests a novel cortisol-independent mechanism of action or assay cross-reactivity. Normalization of dehydroepiandrostenedione

  1. Acute effects of low-level laser therapy (660 nm) on oxidative stress levels in diabetic rats with skin wounds.

    Science.gov (United States)

    Denadai, Amanda Silveira; Aydos, Ricardo Dutra; Silva, Iandara Schettert; Olmedo, Larissa; de Senna Cardoso, Bruno Mendonça; da Silva, Baldomero Antonio Kato; de Carvalho, Paulo de Tarso Camillo

    2017-09-01

    Laser therapy influences oxidative stress parameters such as the activity of antioxidant enzymes and the production of reactive oxygen species. To analyze the effects of low-level laser therapy on oxidative stress in diabetics rats with skin wounds. Thirty-six animals were divided into 4 groups: NDNI: non-diabetic rats with cutaneous wounds that not received laser therapy; NDI: non-diabetic rats with cutaneous wounds that received laser therapy; DNI: diabetic rats with skin wounds who did not undergo laser therapy; DI: rats with diabetes insipidus and cutaneous wounds and received laser therapy. The animals were treated with LLLT (660 nm, 100 mW, 6 J/cm, spot size 0.028 cm). On the day of killing the animals, tissue-wrapped cutaneous wounds were collected and immediately frozen, centrifuged, and stored to analyze malondialdehyde (MDA) levels. Significant difference was observed within the groups of MDA levels (ANOVA, p = 0.0001). Tukey's post-hoc test showed significantly lower values of MDA in irradiated tissues, both in diabetic and non-diabetic rats. ANOVA of the diabetic group revealed a significant difference (p < 0.01) when all groups, except NDI and DI, were compared. LLLT was effective in decreasing MDA levels in acute surgical wounds in diabetic rats.

  2. Clinical presentation and outcome of children with central diabetes insipidus associated with a self-limited or transient pituitary stalk thickening, diagnosed as infundibuloneurohypophysitis.

    Science.gov (United States)

    Schaefers, J; Cools, M; De Waele, K; Gies, I; Beauloye, V; Lysy, P; Francois, I; Beckers, D; De Schepper, J

    2017-08-01

    Despite lymphocytic or autoimmune infundibuloneurohypophysitis (INH) is an increasingly recognized aetiology in children with central diabetes insipidus (CDI); clinical data on epidemiology (clinical evolution, predisposing factors, complications), diagnosis and management of this entity are limited and mostly based on published case reports. The aim of this study was to gain a broader insight in the natural history of this disease by analysing the clinical presentation, radiological pituitary stalk changes, associated autoimmunity and hormonal deficiencies in children with CDI and a self-limiting or transient stalk thickening (ST), diagnosed as autoimmune infundibuloneurohypophysitis, during the last 15 years in four Belgian university hospitals. The medical files of nine CDI patients with a ST at initial presentation and no signs of Langerhans cell histiocytosis or germinoma at presentation and/or during follow-up of more than 1.5 years were reviewed. Age at presentation ranged from 3 to 14 years. Two patients had a positive family history of autoimmunity. Three children presented with associated growth failure, two with nausea and one with long-standing headache. Median maximal diameter of the stalk was 4.6 mm (2.7-10 mm). Four patients had extra-pituitary brain anomalies, such as cysts. One patient had central hypothyroidism, and another had a partial growth hormone deficiency at diagnosis. Within a mean follow-up of 5.4 (1.5-15) years, stalk thickening remained unchanged in two patients, regressed in one and normalized in six children. CDI remained in all, while additional pituitary hormone deficiencies developed in only one patient. In this series of children INH with CDI as initial presentation, CDI was permanent and infrequently associated with anterior pituitary hormone deficiencies, despite a frequent association with nonstalk cerebral lesions. © 2017 The Authors. Clinical Endocrinology Published by John Wiley & Sons Ltd.

  3. Identification of eight new mutations in familial neurogenic diabetes insipidus supports the concept that defective folding of the mutant provasopressin-neurophysin causes the disease

    Energy Technology Data Exchange (ETDEWEB)

    Rittig, S.; Siggaard, C.; Pedersen, E.B. [University Hospital in Aarhus (Denmark)] [and others

    1994-09-01

    Familial neurogenic diabetes insipidus (FNDI) is an autosomal dominant disorder with a uniform phenotype characterized by polyuria, polydipsia and a severe deficiency of arginine vasopressin (AVP). These abnormalities develop postnatally and appear to be due to progressive degeneration of AVP producing neurons. Previous studies in 8 FNDI kindreds have identified 5 different mutations in the gene that codes for the AVP-neurophysin (NP) precursor, AVP-NP. Four kindreds had the same missense mutation in the part of exon 1 that codes for the C-terminal amino acid of the signal peptide (SP). The other 4 had different missense mutations or a codon deletion in exon 2 which codes for the highly conserved part of NP. In the present study, the AVP-NP genes from 8 other kindreds with FNDI were sequenced bidirectionally using sequence and single-stranded DNA amplified by PCR with biotinylated primers flanking each of the 3 exons. We find that each of the 8 kindreds has a different, previously unreported mutation in either the SP coding part of exon 1, in exon 2 or in the variable, NP-coding part of exon 3. Combining these 8 new mutations with the 5 described previously reveals a distribution pattern that corresponds closely to the domains involved in the mutually interactive processes of AVP binding, folding and dimerization of NP. Based on these findings and the clinical features of FNDI, we postulate that the precursors produced by the mutant alleles are cytotoxic because they do not fold or dimerize properly for subsequent packaging and processing.

  4. [From gene to disease; mutations in the WFS1-gene as the cause of juvenile type I diabetes mellitus with optic atrophy (Wolfram syndrome)

    NARCIS (Netherlands)

    Pennings, R.J.E.; Dikkeschei, L.D.; Cremers, C.W.R.J.; Ouweland, J.M.W. van den

    2002-01-01

    Wolfram syndrome patients are mainly characterised by juvenile onset diabetes mellitus and optic atrophy. A synonym is the acronym DIDMOAD: diabetes insipidus, diabetes mellitus, optic atrophy, deafness. Diabetes insipidus and sensorineural high-frequency hearing impairment are important additional

  5. National Surveillance of Central Diabetes Insipidus (CDI) in Denmark: results from 5 years registration of 9309 prescriptions of desmopressin to 1285 CDI patients.

    Science.gov (United States)

    Juul, K V; Schroeder, M; Rittig, S; Nørgaard, J P

    2014-06-01

    Epidemiological data for central diabetes insipidus (CDI) are sparse. The purpose of this study was to provide accurate epidemiological data on CDI on a national level. This was a drug utilization and patient registry study during a 5-year period from 2007 to 2011. We used the Danish National Prescription Registry data linked with the Danish National Patient Registry to study the epidemiology of CDI using waiting time distribution and other pharmacoepidemiological methods. A total of 1285 patients with CDI were recorded in the observation period and given 9309 prescriptions for desmopressin in the nasal formulation, orodispersible tablet, or conventional tablet. The period prevalence rate of CDI in Denmark over the 5-year period investigated was 23 CDI patients per 100 000 inhabitants, with a higher prevalence in children and older adults (>80 years of age). The 1-year period prevalence rate of CDI decreased in Denmark over the 5 years from approximately 10 to 7 CDI patients per 100 000 inhabitants. The yearly incidence rate of new cases of CDI was found to be 3 to 4 patients per 100 000. The incidence of (presumable) congenital CDI was found to be 2 infants per 100 000 infants. Half of the patients with CDI prescribed as oral treatment were provided dosing instructions to only administer the drug before bedtime, and one third of the CDI patients either had no specific instructions or were instructed to use the drug as needed. Hospital admissions due to severe hyponatremia occurred in 0.9% of patients over a 5-year period, predominantly in females with an incidence ratio of women to men of 1.8:1. Half of the cases of CDI are acquired later in life. At least half of the patients with CDI are instructed to prevent nocturnal polyuria, but it is not clear whether their CDI remains uncontrolled during the daytime or, alternatively, whether they use desmopressin only as needed. Female patients with CDI had approximately twice the number of hospital admissions due to

  6. The prevalence of IgG4-related hypophysitis in 170 consecutive patients with hypopituitarism and/or central diabetes insipidus and review of the literature.

    Science.gov (United States)

    Bando, Hironori; Iguchi, Genzo; Fukuoka, Hidenori; Taniguchi, Masaaki; Yamamoto, Masaaki; Matsumoto, Ryusaku; Suda, Kentaro; Nishizawa, Hitoshi; Takahashi, Michiko; Kohmura, Eiji; Takahashi, Yutaka

    2014-02-01

    The prevalence and clinical characteristics of IgG4-related hypophysitis remain unclear due to the limited number of case reports. Therefore, in this study, we screened consecutive outpatients with hypopituitarism and/or diabetes insipidus (DI) to estimate its prevalence. A total of 170 consecutive outpatients with hypopituitarism and/or central DI were screened at Kobe University Hospital for detecting IgG4-related hypophysitis by pituitary magnetic resonance imaging, measuring serum IgG4 concentrations, assessing the involvement of other organs, and carrying out an immunohistochemical analysis to detect IgG4-positive cell infiltration. Among the screened cases, 116 cases were excluded due to diagnosis of other causes such as tumors and congenital abnormalities. Additionally, 22 cases with isolated ACTH deficiency were analyzed and were found not to meet the criteria of IgG4-related hypophysitis. The remaining 32 cases were screened and seven were diagnosed with IgG4-related hypophysitis, of which three cases were diagnosed by analyzing pituitary specimens. IgG4-related hypophysitis was detected in 30% (seven of 23 patients) of hypophysitis cases and 4% of all hypopituitarism/DI cases. The mean age at the onset of IgG4-related hypophysitis was 61.8±8.8 years, and the serum IgG4 concentration was 191.1±78.3 mg/dl (normal values 5-105 mg/dl and values in IgG4-related disease (RD) ≥135 mg/dl). Pituitary gland and/or stalk swelling was observed in six patients, and an empty sella was observed in one patient. Multiple co-existing organ involvement was observed in four of the seven patients prior to the onset of IgG4-related hypophysitis. These data suggest that the prevalence of IgG4-related hypophysitis has been underestimated. We should also consider the possibility of the development of hypopituitarism/DI caused by IgG4-related hypophysitis during the clinical course of other IgG4-RDs.

  7. Prediction of postoperative diabetes insipidus using morphological hyperintensity patterns in the pituitary stalk on magnetic resonance imaging after transsphenoidal surgery for sellar tumors.

    Science.gov (United States)

    Hayashi, Yasuhiko; Kita, Daisuke; Watanabe, Takuya; Fukui, Issei; Sasagawa, Yasuo; Oishi, Masahiro; Tachibana, Osamu; Ueda, Fumiaki; Nakada, Mitsutoshi

    2016-12-01

    Diabetes insipidus (DI) remains a complication of transsphenoidal surgery (TSS) for sellar and parasellar tumors. Antidiuretic hormone (ADH) appears as hyper intensity (HI) in the pituitary stalk and the posterior lobe of the pituitary gland on T1-weighted magnetic resonance (MR) imaging. Its disappearance from the posterior lobe occurs with DI, indicating a lack of ADH. The appearance of HI in the pituitary stalk indicates disturbances in ADH transport. This retrospective study included 172 patients undergoing TSS for sellar tumors at our institute from 2006 to 2014. Sequential T1-weighted MR images without enhancement were evaluated for HI in the pituitary stalk and the posterior lobe to assess the localization of ADH before and at intervals after TSS. DI was assessed pre- and postoperatively. HI in the pituitary stalk showed the following morphology: (1) ovoid in the distal end of the pituitary stalk (group A), (2) linear in the distal part of the pituitary stalk (group B), (3) linear in the whole pituitary stalk (group C). Preoperative DI occurred in 6 patients (3.5 %) with no HI observed in the posterior lobe. Postoperative DI was transient in 82 patients (47.7 %), and permanent in 11 (6.4 %). One week after surgery, HI was absent in the posterior lobe in 74 patients (43.0 %), and present in the pituitary stalk in 99 patients (57.6 %); both were significantly correlated with postoperative DI (p < 0.001). The absence of HI in the posterior lobe (A, 48.9 %; B, 68.3 %; C, 92.3 %), persistence of DI (A, 3.7 days; B, 45.9 days; C, 20.5 months), and duration until HI recovery in the posterior lobe (A, 3.6 months; B, 6.8 months; C, 22.9 months) were greatest in group C, followed by group B, and then group A. Fourteen group A patients did not have postoperative DI despite having HI in the pituitary stalk and the posterior lobe. Four group C patients developed permanent DI with persistence HI in the pituitary stalk. HI in the pituitary stalk and its

  8. Activation Product Inverse Calculations with NDI

    Energy Technology Data Exchange (ETDEWEB)

    Gray, Mark Girard [Los Alamos National Lab. (LANL), Los Alamos, NM (United States)

    2017-09-27

    NDI based forward calculations of activation product concentrations can be systematically used to infer structural element concentrations from measured activation product concentrations with an iterative algorithm. The algorithm converges exactly for the basic production-depletion chain with explicit activation product production and approximately, in the least-squares sense, for the full production-depletion chain with explicit activation product production and nosub production-depletion chain. The algorithm is suitable for automation.

  9. Diabetes insípida adípsica en un operado de craneofaringioma Adipsic diabetes insipidus after surgery for craniopharyngioma

    OpenAIRE

    A Insúa

    2011-01-01

    La variada clínica de la enfermedad hipotalámica (convulsiones, hidrocefalia, hipopituitarismo, alteraciones del apetito, el sueño y la temperatura corporal) incluye también los desórdenes regulatorios de la tonicidad y el volumen del líquido extracelular, debidos a la disrupción de la secreción de ADH (hormona antidiurética, vasopresina) y/o del mecanismo de la sed. Se presenta un caso de un paciente operado de un craneofaringioma, que desarrolló diabetes insípida adípsica, que ilustra la al...

  10. Disease: H00252 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available H00252 Congenital nephrogenic diabetes insipidus (NDI) Nephrogenic diabetes insipi...HORS ... Linshaw MA ... TITLE ... Back to basics: congenital nephrogenic diabetes insipidus. ... JOURNAL ... Pediatr...lecular and cellular defects in nephrogenic diabetes insipidus. ... JOURNAL ... Pediatr Nephrol 16:1146-52 (2001) DOI:10.1007/s004670100051

  11. Nephrogenic diabetes insipidus in a patient with L1 syndrome : A new report of a contiguous gene deletion syndrome including L1CAM and AVPR2

    NARCIS (Netherlands)

    Knops, Noel B. B.; Bos, Krista K.; Kerstjens, Mieke; van Dael, Karin; Vos, Yvonne J.

    2008-01-01

    We report on.in infant boy \\vitli congenital hydrocephatLis CILle to 1.1 syndrorne and p0lyUria dne to diabetes itisipidtis. We initially believed Ins excessive Lirine loss was froin central diabetes insipidLIS and diat the cerebral inalforniation caused a secondary insufficient pitnitary

  12. Recent and Future Enhancements in NDI for Aircraft Structures (Postprint)

    Science.gov (United States)

    2015-11-01

    found that different capabilities were being used to determine inspection intervals for different aircraft [7]. This led to an internal effort...capability of the NDI technique determines the inspection intervals and the Distribution Statement A. Approved for public release; distribution...damage and that the aircraft structure had to be inspectable . The results of the damage tolerance assessments were incorporated into USAF Technical

  13. Recent and Future Enhancement in NDI for Aircraft Structures (Postprint)

    Science.gov (United States)

    2015-11-01

    found that different capabilities were being used to determine inspection intervals for different aircraft [7]. This led to an internal effort...capability of the NDI technique determines the inspection intervals and the Distribution Statement A. Approved for public release; distribution...damage and that the aircraft structure had to be inspectable . The results of the damage tolerance assessments were incorporated into USAF Technical

  14. Narva kant vajab oma brändi / Esko Passila

    Index Scriptorium Estoniae

    Passila, Esko

    2007-01-01

    Autor leiab, et Ida-Virumaa peaks looma ühtse tugeva brändi, mille alusel tulevikuotsuseid teha. See peaks tooma välja soodsa asukoha eelised, võimalused, tööjõu kättesaadavuse, kasutusvalmid maa-alad, hinnad jne.

  15. Development of POD from in-service NDI data

    Science.gov (United States)

    Forsyth, David S.; Fahr, Abbas; Leemans, Dirk V.; McRae, Ken I.

    2000-05-01

    The economic drive towards using aircraft beyond their initial design life has created a great interest in damage-tolerance (DT) based maintenance. The DT approach relies on routine nondestructive inspections (NDI), and requires that the NDI performance to be quantified in terms probability of detection (POD) to determine the safe inspection intervals. The most common approach for determining NDI POD is to perform inspections on representative components or specimens simulating the actual parts. This approach is practical but can be very expensive. A more economical approach may be to use actual field inspection data to obtain POD. This approach is particularly attractive for airframe inspection techniques, since most airframe structures cannot be easily simulated. There are a number of difficulties with this approach: Firstly, there is usually a very limited amount of field data. This may require special statistical treatment. Secondly, crack growth data must exist to allow the estimation of flaw sizes at the inspection sites at inspection times before the flaws were found. These factors and others affect the confidence in the calculated POD, and must be quantified before POD data of this type can be used. In this work, data from full scale fatigue tests were analyzed, and methods of overcoming the problems of small sample sizes and crack growth data requirements were investigated.

  16. Central Diabetes Insipidus, Central Hypothyroidism, Renal Tubular ...

    African Journals Online (AJOL)

    readmitted to the hospital because of jaundice and failure to thrive, for which he was investigated and diagnosed to have central congenital hypothyroidism. Shortly thereafter, he was admitted to our institute with a history of vomiting, decreased oral intake, polyuria, and dehydration having lasted 5 days. He was investigated ...

  17. Development of a corrosion detection experiment to evaluate conventional and advanced NDI techniques

    Energy Technology Data Exchange (ETDEWEB)

    Roach, D.

    1995-12-31

    The Aging Aircraft NDI Validation Center (AANC) was established by the Federal Aviation Administration Technical Center (FAATC) at Sandia National Laboratories in August of 1991. The goal of the AANC is to provide independent validation of technologies intended to enhance the structural inspection of aging commuter and transport aircraft. The deliverables from the AANC`s validation activities are assessments of the reliability of existing and emerging inspection technologies as well as analyses of the cost benefits to be derived from their implementation. This paper describes the methodology developed by the AANC to assess the performance of NDI techniques. In particular, an experiment being developed to evaluate corrosion detection devices will be presented. The experiment uses engineered test specimens, as well as complete aircraft test beds to provide metrics for NDI validation.

  18. The Neck Disability Index-Russian Language Version (NDI-RU): A Study of Validity and Reliability.

    Science.gov (United States)

    Bakhtadze, Maxim A; Vernon, Howard; Zakharova, Olga B; Kuzminov, Kirill O; Bolotov, Dmitry A

    2015-07-15

    Cross-cultural adaptation and psychometric testing. To perform a validated Russian translation and then to evaluate the validity and reliability of the Russian language version of the Neck Disability Index (NDI-RU). Neck pain is highly prevalent and can greatly affect daily activity. The Neck Disability Index (NDI) is the most frequently used scale for self-rating of disability due to neck pain. Its translated versions are applied in many countries. However, the Russian language version of the NDI has not been developed yet. Cross-cultural adaptation of the NDI-RU was performed according to established guidelines. Then, the NDI-RU was evaluated for content validity, concurrent criterion validity, internal consistency, test-retest reliability, factor structure, and minimum detectable change. Two hundred thirty-two patients took part in the study in total: 109 in validity (39.5 ± 10 yr), 123 in reliability (38.4 ± 11 yr; 80 in the test-retest phase). A culturally valid translation was achieved. NDI-RU total scores were distributed normally. Floor/ceiling effects were absent. Good values of Cronbach α were obtained for each item (from 0.80 to 0.84) and for the total NDI-RU (0.83). A 2-factor solution was found for the NDI-RU. The average interitem correlation coefficient was 0.53. Intraclass correlation coefficients for test-retest reliability coefficients ranged from 0.65 to 0.92 for different items and 0.91 for the total NDI-RU. Moderate correlation (Spearman rs = 0.62; P Russian language version of the Neck Disability Index resulted in a valid, reliable instrument that can be used both in clinical practice and scientific investigations. 1.

  19. Broadband polarized emission from P(NDI2OD-T2) polymer.

    Science.gov (United States)

    Ulrich, Steve; Sutch, Tabitha; Szulczewski, Greg; Schweizer, Matthias; Barbosa, Newton; Araujo, Paulo

    2018-05-18

    We investigate the P(NDI2OD-T2) photophysical properties via absorbance and fluorescence spectroscopy, in association with the experimental approach baptized Stokes Spectroscopy, which provides valuable material information through the acquisition and analysis of the fluorescence polarization degree. By changing solvents and using different samples such as solutions, thick, and thin films, it is possible to control the polarization degree spectrum associated to the fluorescence emitted by the polymer's isolated chains and aggregates. We show that the polarization degree could become a powerful tool to obtain information related to the samples morphology, which is connected to their microscopic structure. Moreover, the polarization degree spectra suggest that depolarization effects linked to energy and charge transfer mechanisms are likely taking place. Our findings indicate that P(NDI2OD-T2) polymers are excellent candidates for the advancement of organic technologies that rely on the emission and detection of polarized lights. © 2018 IOP Publishing Ltd.

  20. A look at the ASEAN-NDI: building a regional health R&D innovation network.

    Science.gov (United States)

    Montoya, Jaime C; Rebulanan, Carina L; Parungao, Nico Angelo C; Ramirez, Bernadette

    2014-01-01

    Globally, there are growing efforts to address diseases through the advancement in health research and development (R&D), strengthening of regional cooperation in science and technology (particularly on product discovery and development), and implementation of the World Health Assembly Resolution 61.21 (WHA61.21) on the Global Strategy and Plan of Action on Public Health, Innovation, and Intellectual Property (GSPA-PHI). As such, the Association of Southeast Asian Nations (ASEAN) is responding to this through the establishment of the ASEAN-Network for Drugs, Diagnostics, Vaccines, and Traditional Medicines Innovation (ASEAN-NDI). This is important in the ASEAN considering that infectious tropical diseases remain prevalent, emerging, and reemerging in the region. This paper looks into the evolution of the ASEAN-NDI from its inception in 2009, to how it is at present, and its plans to mitigate public health problems regionally and even globally.

  1. A Tool Measuring Remaining Thickness of Notched Acoustic Cavities in Primary Reaction Control Thruster NDI Standards

    Science.gov (United States)

    Sun, Yushi; Sun, Changhong; Zhu, Harry; Wincheski, Buzz

    2006-01-01

    Stress corrosion cracking in the relief radius area of a space shuttle primary reaction control thruster is an issue of concern. The current approach for monitoring of potential crack growth is nondestructive inspection (NDI) of remaining thickness (RT) to the acoustic cavities using an eddy current or remote field eddy current probe. EDM manufacturers have difficulty in providing accurate RT calibration standards. Significant error in the RT values of NDI calibration standards could lead to a mistaken judgment of cracking condition of a thruster under inspection. A tool based on eddy current principle has been developed to measure the RT at each acoustic cavity of a calibration standard in order to validate that the standard meets the sample design criteria.

  2. PROMIS Physical Function Correlation With NDI and mJOA in the Surgical Cervical Myelopathy Patient Population.

    Science.gov (United States)

    Owen, Robert J; Zebala, Lukas P; Peters, Colleen; McAnany, Steven

    2018-04-15

    Retrospective review. To determine the correlation of Patient-Reported Outcomes Measurement Information System (PROMIS) physical function with Neck Disability Index (NDI) and Modified Japanese Orthopedic Association (mJOA) scores in the surgical cervical myelopathy patient population. Outcome measures such as NDI and mJOA are essential for analyzing treatments for cervical myelopathy. Administrative burdens impose limits on completion of these measures. The PROMIS group developed an outcome measure to improve reporting of patient symptoms and function and to reduce administrative burden. Despite early success, NDI and mJOA have not been compared with PROMIS in patients with cervical myelopathy. This study determines the correlation of NDI and mJOA with PROMIS in surgical patients with cervical myelopathy. A total of 60 patients with cervical myelopathy undergoing surgery were included. PROMIS, NDI, and mJOA were collected preoperatively, and in the first 6 months postoperatively. Correlations between NDI, mJOA, and PROMIS were quantified using Pearson correlation coefficients. Students t tests were used to test significance. All 60 (100%) of patients completed preoperative questionnaires. Fifty-five (92%) of patients completed initial follow-up questionnaires within the first 6 months. PROMIS physical function and NDI demonstrated a strong negative correlation at baseline and in initial follow-up (R = -0.69, -0.76). PROMIS and mJOA demonstrated a strong positive correlation at baseline and in initial follow-up (R = 0.61, 0.72). PROMIS physical function has a strong negative correlation with NDI and a strong positive correlation with mJOA at baseline and in the early postoperative course in patients undergoing surgery for cervical myelopathy. Surgeons may factor these outcomes into the delivery and interpretation of patient-reported outcome measures in this population. Use of PROMIS may improve completion of outcome measures in the office and reduce

  3. Life-threatening lithium-induced diabetes insipidus after colonic ...

    African Journals Online (AJOL)

    ... concentration of 185mmol/l and required ventilation after a respiratory arrest. We suggest any surgical patient who describes a history of bipolar disorder or lithium therapy should be questioned directly to ascertain confirmatory features of LINDI, and have post-operative polyuria treated with aggressive fluid replacement.

  4. Clinical characteristics of central diabetes insipidus in Taiwanese children

    Directory of Open Access Journals (Sweden)

    Shih-Yao Liu

    2013-10-01

    Conclusion: Because a delayed diagnosis of CDI is common in Taiwanese children, a high index of suspicion is important. The underlying etiology of CDI in children may not initially be obvious. Long-term surveillance is therefore necessary, especially for the early detection of evolving treatable intracranial lesions.

  5. 2. november tähistas Eesti ekstreem-metal-skene jaoks kahe äärmiselt olulise üllitise taassündi

    Index Scriptorium Estoniae

    2009-01-01

    Nailboard Records üllitas pagan-metal-bändi Tharaphita albumi "Raev" digipack-CD, millele on lisatud 1996. aastal ilmunud neljalooline demosalvestis "Kui varjud põlevad" ja dark-elektro-bändi Forgotten Sunrise demo "Behind The Abysmal Sky" (1993) ning minialbumi "Forever Sleeping Greystones" (1994) lood

  6. Uudised : Vanemuise Sümfoonikute kontsert. Kaks õhtut TMMis. Esimene puhkpilli- ja bigbändiõhtu / Jaanika Juhanson

    Index Scriptorium Estoniae

    Juhanson, Jaanika, 1977-

    2000-01-01

    Eelinfo 11. märtsil toimuva Vanemuise Sümfoonikute kontserdi kohta Vanemuise kontserdimajas. M. Korjuse vitriini avamisest 23. veebr. Teatri- ja Muusikamuuseumis, D. Kokkeri mälestusõhtust 29. veebr. TMMi Assauwe tornis. 4. märtsil EMA saalis toimunud puhkpilliorkestri ja bigbändi kontserdist

  7. Brändi näkyy musiikkivideossa : Esimerkkitapaus Michael Jackson

    OpenAIRE

    Kontinen, Noora

    2016-01-01

    Tutkin opinnäytetyössäni brändin ja musiikkivideon suhdetta toisiinsa. Työssä käsitellään lyhyesti myös tähteyttä. Esittelen ensin vähän historiaa ja peruskäsitteitä, minkä jälkeen käytän Michael Jacksonin Billie Jean -musiikkivideota esimerkkinä tutkiessani Michael Jacksonin brändiä. Teoksessa käytetään lähdeaineistoa sekä omaa analyysia. Keskityn tarkastelemaan musiikkivideoita, ja niihin liittyviä sisältöjä yleisesti, ei niinkään teknisesti. Toivon, että työstäni on apua jollekin,...

  8. Successful amelioration of mitochondrial optic neuropathy using the yeast NDI1 gene in a rat animal model.

    Directory of Open Access Journals (Sweden)

    Mathieu Marella

    2010-07-01

    Full Text Available Leber's hereditary optic neuropathy (LHON is a maternally inherited disorder with point mutations in mitochondrial DNA which result in loss of vision in young adults. The majority of mutations reported to date are within the genes encoding the subunits of the mitochondrial NADH-quinone oxidoreductase, complex I. Establishment of animal models of LHON should help elucidate mechanism of the disease and could be utilized for possible development of therapeutic strategies.We established a rat model which involves injection of rotenone-loaded microspheres into the optic layer of the rat superior colliculus. The animals exhibited the most common features of LHON. Visual loss was observed within 2 weeks of rotenone administration with no apparent effect on retinal ganglion cells. Death of retinal ganglion cells occurred at a later stage. Using our rat model, we investigated the effect of the yeast alternative NADH dehydrogenase, Ndi1. We were able to achieve efficient expression of the Ndi1 protein in the mitochondria of all regions of retinal ganglion cells and axons by delivering the NDI1 gene into the optical layer of the superior colliculus. Remarkably, even after the vision of the rats was severely impaired, treatment of the animals with the NDI1 gene led to a complete restoration of the vision to the normal level. Control groups that received either empty vector or the GFP gene had no effects.The present study reports successful manifestation of LHON-like symptoms in rats and demonstrates the potential of the NDI1 gene therapy on mitochondrial optic neuropathies. Our results indicate a window of opportunity for the gene therapy to be applied successfully after the onset of the disease symptoms.

  9. Diabetes

    Science.gov (United States)

    ... you, discussing your symptoms, and going over your health history, your doctor may test for diabetes if he or she suspects you are at risk. To check for diabetes, your doctor may request the following tests: Fasting blood sugar test. This test is usually done ...

  10. Diabetes

    DEFF Research Database (Denmark)

    Damm, Peter; Mathiesen, Elisabeth R

    2015-01-01

    For >30 years, insulin has been the drug of choice for the medical treatment of gestational diabetes mellitus. However, the use of oral hypoglycaemic agents has increased during the past 1–2 decades, so a recent comparison of treatment with glibenclamide, metformin or insulin in women...... with gestational diabetes mellitus is highly relevant....

  11. A new nidovirus (NamDinh virus NDiV): Its ultrastructural characterization in the C6/36 mosquito cell line

    Energy Technology Data Exchange (ETDEWEB)

    Thuy, Nguyen Thanh, E-mail: ngtthuy02@yahoo.com [National Institute of Hygiene and Epidemiology, 1 Yersin Street, Hai Ba Trung District, Hanoi (Viet Nam); Huy, Tran Quang, E-mail: huytq@nihe.org.vn [National Institute of Hygiene and Epidemiology, 1 Yersin Street, Hai Ba Trung District, Hanoi (Viet Nam); Nga, Phan Thi [National Institute of Hygiene and Epidemiology, 1 Yersin Street, Hai Ba Trung District, Hanoi (Viet Nam); Morita, Kouichi [Department of Virology, Institute of Tropical Medicine, Global COE Program, Nagasaki University, Nagasaki (Japan); Dunia, Irene; Benedetti, Lucio [Institut Jacques Monod, UMR7592 Université Paris Diderot/CNRS, Paris (France)

    2013-09-15

    We describe the ultrastructure of the NamDinh virus (NDiV), a new member of the order Nidovirales grown in the C6/36 mosquito cell line. Uninfected and NDiV-infected cells were investigated by electron microscopy 24–48 h after infection. The results show that the viral nucleocapsid-like particles form clusters concentrated in the vacuoles, the endoplasmic reticulum, and are scattered in the cytoplasm. Mature virions of NDiV were released as budding particles on the cell surface where viral components appear to lie beneath and along the plasma membrane. Free homogeneous virus particles were obtained by ultracentrifugation on sucrose gradients of culture fluids. The size of the round-shaped particles with a complete internal structure was 80 nm in diameter. This is the first study to provide information on the morphogenesis and ultrastructure of the first insect nidovirus NDiV, a missing evolutionary link in the emergence of the viruses with the largest RNA genomes. - Highlights: • NamDinh virus (NDiV), a new member of the order Nidovirales was tested in cultured cell line. • The morphogenesis and ultrastructure of NDiV were investigated by electron microscopy. • The viral nucleocapsid-like particles clustered and scattered in the cytoplasm. • NDiVs were released as budding particles on the cell surface. • The size of the viral particles with a complete internal structure was 80 nm in diameter.

  12. Diabetes

    Science.gov (United States)

    ... including: Blurry vision Excess thirst Fatigue Frequent urination Hunger Weight loss Because type 2 diabetes develops slowly, ... must be authorized in writing by ADAM Health Solutions. About MedlinePlus Site Map FAQs Customer Support Get ...

  13. Diabetes

    Data.gov (United States)

    Allegheny County / City of Pittsburgh / Western PA Regional Data Center — These datasets provide de-identified insurance data for diabetes. The data is provided by three managed care organizations in Allegheny County (Gateway Health Plan,...

  14. Economic aspects of hydro geological risk mitigation measures management in Italy: the ReNDiS project experience

    Science.gov (United States)

    Spizzichino, D.; Campobasso, C.; Gallozzi, P. L.; Dessi', B.; Traversa, F.

    2009-04-01

    ReNDiS project is a useful tool for monitoring, analysis and management of information data on mitigation measures and restoration works of soil protection at national scale. The main scope of the project, and related monitoring activities, is to improve the knowledge about the use of national funds and efforts against floods and landslides risk and, as a consequence, to better address the preventive policies in future. Since 1999 after the disastrous mudflow event occurred in Sarno in 1998, which caused the loss of 160 human lives, an extraordinary effort was conducted by the Italian Government in order to promote preventive measures against the hydro geological risk over the entire Italian territory. The Italian Ministry for the Environment promoted several and annual soil protection programmes. The ReNDiS project (Repertory of mitigation measures for National Soil Protection) is carried out by ISPRA - Institute for Environmental protection and Research, with the aim of improving the knowledge about the results of preventive policies against floods and landslides in order to better address national funds as requested by the Minister itself. The repertory is composed by a main archive and two secondary interface, the first for direct data management (ReNDiS-ist) and the latter (ReNDiS-web) for the on-line access and public consultation. At present, ReNDiS database contains about 3000 records concerning those programmes, focused on restoration works but including also information on landslide typologies and processes. The monitoring project is developed taking into account all the information about each step of every mitigation measure from the initial funding phase until the end of the work. During present work, we have statistically analyzed the ReNDiS database in order to highlight the conformity between the characteristic and type of the hazard (identified in a specific area) and the corresponding mitigation measures adopted for risk reduction. Through specific

  15. Diabetes insípida post-parotiditis

    OpenAIRE

    Pila Pérez, Rafael; Rivero Sánchez, Miguel; Peralta Ventura, Ricardo; Carbonell Perdomo, Diego; Pila Peláez, Rafael; Guerra Rodríguez, Carmen

    2001-01-01

    Se describe un caso de diabetes insípida post parotiditis, entidad sumamente rara en nuestro medio. Se destaca el diagnóstico y la terapéutica de esta entidad, así como la causa etiológico y forma de presentación. A case of diabetes insipidus post-parotiditis is described entity totally rare in our midicu. Diagnostics and therapeutics are stressed a well as the ethiologic antecedent and way of presentation.

  16. Caenorhabditis elegans expressing the Saccharomyces cerevisiae NADH alternative dehydrogenase Ndi1p, as a tool to identify new genes involved in complex I related diseases

    Directory of Open Access Journals (Sweden)

    Raynald eCossard

    2015-06-01

    Full Text Available Isolated complex I deficiencies are one of the most commonly observed biochemical features in patients suffering from mitochondrial disorders. In the majority of these clinical cases the molecular bases of the diseases remain unknown suggesting the involvement of unidentified factors that are critical for complex I function.The Saccharomyces cerevisiae NDI1 gene, encoding the mitochondrial internal NADH dehydrogenase was previously shown to complement a complex I deficient strain in Caenorhabitis elegans with notable improvements in reproduction, whole organism respiration. These features indicate that Ndi1p can functionally integrate the respiratory chain, allowing complex I deficiency complementation. Taking into account the Ndi1p ability to bypass complex I, we evaluate the possibility to extend the range of defects/mutations causing complex I deficiencies that can be alleviated by NDI1 expression.We report here that NDI1 expressing animals unexpectedly exhibit a slightly shortened lifespan, a reduction in the progeny and a depletion of the mitochondrial genome. However, Ndi1p is expressed and targeted to the mitochondria as a functional protein that confers rotenone resistance to those animals and without affecting their respiration rate and ATP content.We show that the severe embryonic lethality level caused by the RNAi knockdowns of complex I structural subunit encoding genes (e.g. NDUFV1, NDUFS1, NDUFS6, NDUFS8 or GRIM-19 human orthologs in wild type animals is significantly reduced in the Ndi1p expressing worm.All together these results open up the perspective to identify new genes involved in complex I function, assembly or regulation by screening an RNAi library of genes leading to embryonic lethality that should be rescued by NDI1 expression.

  17. Full-Scale Structural and NDI Validation Tests of Bonded Composite Doublers for Commercial Aircraft Applications

    Energy Technology Data Exchange (ETDEWEB)

    Roach, D.; Walkington, P.

    1999-02-01

    Composite doublers, or repair patches, provide an innovative repair technique which can enhance the way aircraft are maintained. Instead of riveting multiple steel or aluminum plates to facilitate an aircraft repair, it is possible to bond a single Boron-Epoxy composite doubler to the damaged structure. Most of the concerns surrounding composite doubler technology pertain to long-term survivability, especially in the presence of non-optimum installations, and the validation of appropriate inspection procedures. This report focuses on a series of full-scale structural and nondestructive inspection (NDI) tests that were conducted to investigate the performance of Boron-Epoxy composite doublers. Full-scale tests were conducted on fuselage panels cut from retired aircraft. These full-scale tests studied stress reductions, crack mitigation, and load transfer capabilities of composite doublers using simulated flight conditions of cabin pressure and axial stress. Also, structures which modeled key aspects of aircraft structure repairs were subjected to extreme tension, shear and bending loads to examine the composite laminate's resistance to disbond and delamination flaws. Several of the structures were loaded to failure in order to determine doubler design margins. Nondestructive inspections were conducted throughout the test series in order to validate appropriate techniques on actual aircraft structure. The test results showed that a properly designed and installed composite doubler is able to enhance fatigue life, transfer load away from damaged structure, and avoid the introduction of new stress risers (i.e. eliminate global reduction in the fatigue life of the structure). Comparisons with test data obtained prior to the doubler installation revealed that stresses in the parent material can be reduced 30%--60% through the use of the composite doubler. Tests to failure demonstrated that the bondline is able to transfer plastic strains into the doubler and that

  18. Wolfram syndrome: A rare mimic of type 1 diabetes mellitus

    Directory of Open Access Journals (Sweden)

    Manish Gutch

    2016-01-01

    Full Text Available Wolfram syndrome is a rare autosomal recessive disorder characterized by a constellation of disorders also known as diabetes insipidus, diabetes mellitus (DM, optic atrophy, and deafness. Patients present with DM and optic atrophy in the first decade, diabetes insipidus and sensorineural deafness in the second decade, and renal outflow tract anomalies and other neurological manifestations later in life. We report a case of a 14-year-old boy who was diagnosed with insulin-dependent DM and subsequently discovered to have optic atrophy, sensorineural hearing loss, and cardiovascular defect with a positive family history. Such cases need to be evaluated thoroughly with respect to Wolfram syndrome and its associated anomalies.

  19. A young diabetic with suicidal risk: Rare disease with a rarer presentation

    Directory of Open Access Journals (Sweden)

    Rajeev Philip

    2013-01-01

    Full Text Available Rare genetic or inherited forms of diabetes can mimic immune mediated type 1 diabetes. Early age of onset and associated features help to differentiate these diseases from type 1 diabetes. Wolfram syndrome, an inherited neuro degenerative disorder, presents as insulin dependent diabetes mellitus, diabetes insipidus, optic atrophy and deafness. But less well described features like psychiatric manifestations can be the presentation of this disease. We present such a case. Wolfram syndrome should be considered as a differential diagnosis in insulin dependent diabetic children who present with neuropsychiatric problems.

  20. Development of a NDI system using the magneto-optical method. 2. Remote sensing using the novel magneto-optical inspection system

    International Nuclear Information System (INIS)

    Lee, Jinyi; Shoji, Tetsuo

    1999-01-01

    A new remote sensing system using the magneto-optical method is developed for inspection of flaws introduced during service operation where routine inspection is difficult because of difficult inaccessibility to the components. Among the advantages of non-destructive inspection (NDI) based on the magneto-optical sensor are: real time inspection, elimination of electrical noise and high spatial resolution. Remote sensing of flaws is achieved using the basic principles of Faraday effect, optical permeability, and diffraction of a laser by the domain walls. This paper describes a novel remote NDI system using the principles of optics and LMF. The main characteristic of the system is that image data and LMF information can be obtained simultaneously. It is possible to carry out remote and high speed inspection of cracks from the intensity of reflected light, and to estimate the size of a crack effectively with their diverse data. The advantages of this NDI system are demonstrated using two specimens. (author)

  1. Bartter's Syndrome with Type 2 Diabetes Mellitus

    Directory of Open Access Journals (Sweden)

    Ting-Ting See

    2009-02-01

    Full Text Available We report a rare case of Bartter's syndrome in a 35-year-old woman with type 2 diabetes mellitus. The patient presented with leg weakness, fatigue, polyuria and polydipsia. Hypokalemia, metabolic alkalosis, and high renin and aldosterone concentrations were present, but the patient was normotensive. Gitelman's syndrome was excluded because of the presence of hypercalciuria, secondary hyperparathyroidism and bilateral nephrocalcinosis. The patient's condition improved upon administration of a prostaglandin synthetase inhibitor (acemetacin, oral potassium chloride and potassium-sparing diuretics. Five months later, the patient discontinued acemetacin because of epigastric discomfort; at the same time, severe hypokalemia and hyperglycemia developed. Glucagon stimulation and water deprivation tests were performed. Type 2 diabetes mellitus with nephrogenic diabetes insipidus was diagnosed. To avoid further gastrointestinal complications, the patient was treated with celecoxib, a selective cyclooxygenase 2 inhibitor. This case serves as a reminder that Bartter's syndrome is associated with various metabolic derangements including nephrogenic diabetes insipidus, nephrocalcinosis and diabetes mellitus. When treating Bartter's syndrome, it is also prudent to remember that the long-term use of nonsteroidal anti-inflammatory drugs and potassium-sparing diuretics may result in serious adverse reactions.

  2. The subtle signs of Wolfram (DIDMOAD) syndrome: not all juvenile diabetes is type 1 diabetes.

    Science.gov (United States)

    Boettcher, Claudia; Brosig, Burkhard; Zimmer, Klaus P; Wudy, Stefan A

    2011-01-01

    Wolfram syndrome (also known as DIDMOAD = diabetes insipidus, diabetes mellitus, optic atrophy, deafness) is an autosomal recessive disorder characterized by the association of childhood non-immune insulin-dependent diabetes mellitus (DM) with progressive bilateral optic atrophy. Additional symptoms including signs of severe neurodegeneration and psychiatric illness are likely to evolve over time resulting in premature death. We report on two siblings of Turkish origin from our diabetes clinic who were diagnosed with Wolfram syndrome after 6 years and 2 years duration of DM, respectively. Subtle symptoms such as attitude changes, growing reading difficulties in the history of children or adolescents with antibody negative and ketone negative DM should alert the treating physician and lead to re-evaluation of the diagnosis, keeping in mind that not all juvenile DM is type 1 DM.

  3. Lithium induces microcysts and polyuria in adolescent rat kidney independent of cyclooxygenase-2

    DEFF Research Database (Denmark)

    Kjærsgaard, Gitte; Madsen, Kirsten; Marcussen, Niels

    2014-01-01

    In patients, chronic treatment with lithium leads to renal microcysts and nephrogenic diabetes insipidus (NDI). It was hypothesized that renal cyclooxygenase-2 (COX-2) activity promotes microcyst formation and NDI. Kidney microcysts were induced in male adolescent rats by feeding dams with lithium......, and inactive pGSK-3β in collecting duct; a blocker of COX-2 does not prevent cell proliferation, cyst formation, or GSK-3β inactivation. It is concluded that COX-2 activity is not the primary cause for microcysts and polyuria in a NaCl-substituted rat model of lithium nephropathy. COX-1 is a relevant candidate...

  4. From headache to Rathke’s cleft cyst followed by diabetes insipidus with panhypopituitarism

    Directory of Open Access Journals (Sweden)

    Valea Ana

    2015-08-01

    Full Text Available Introduction The Rathke cyst represents an unusual benign tumour derived from Rathke’s cleft remnants. The diagnosis is potential seen at any age. The most frequent signs are mostly mass effects as headache, visual field defects and hypopituitarism.

  5. [Nursing care of a patient with bipolar disorder and lithium-induced nephrogenic diabetes insipidus].

    Science.gov (United States)

    García de la Orden, Lucía; García Carretero, Rafael

    2015-01-01

    Bipolar disorder is one of the most common, severe and persistent mental disorders. The evaluation of all data and variables related to bipolar disorder is a difficult task, because there is no clear agreement on what should be included in this category. One of the traditional treatments for this disease is the lithium metal that is administered in the form of lithium salt. Lithium has a narrow therapeutic window and there is a significant risk of complications arising from its use, mainly neurological and renal. In the case presented, the preparation of a care plan is described for a patient diagnosed with bipolar disorder who suffered a complication with lithium treatment. To do this, it was decided to use a standardized care plan and later completed it with diagnostic, objectives and interventions to the specific needs of the patient, aimed at achieving optimal levels of independence. Copyright © 2014 Elsevier España, S.L.U. All rights reserved.

  6. Intractable Polyuria Mimicking Diabetes Insipidus-Source Traced to Vecuronium Infusion.

    Science.gov (United States)

    Haldar, Rudrashish; Samanta, Sukhen; Singla, Ankush

    2016-01-01

    Continuous infusion of vecuronium is a commonly used technique for patients requiring prolonged neuromuscular blockade for mechanical ventilation. As compared with older neuromuscular blocking agents, it confers the advantages of rapid excretion and intermediate duration of action. Prolongation of neuromuscular blockade and muscle weakness are the known complications of continuous vecuronium infusion. This report attempts to describe polyuria, as a hitherto unknown complication of vecuronium infusion, which can occur due to the mannitol present in commercially available preparation of vecuronium bromide.

  7. Life-Threatening Hypernatremia In A Case Of Diabetes Insipidus/Panhypopituitarism

    Directory of Open Access Journals (Sweden)

    Ekamol Tantisattamo

    2012-06-01

    Water balance is controlled by thyroid, glucocorticoid, and principally ADH working at the renal effector level while the RAAS principally controls sodium balance. Together these hormones tightly regulate serum sodium concentration. Managing hospitalized patients with DI/panhypopituitarism requires knowledge of the intricate interplay between ADH and thyroid/glucocorticoid tone to minimize the risk for dangerous sodium fluctuations. It is usually better to err on the side of mild hyponatremia than holding DDAVP in these complex patients which can lead to life threatening hypernatremia.

  8. Tamoxifen attenuates development of lithium-induced nephrogenic diabetes insipidus in rats

    DEFF Research Database (Denmark)

    Tingskov, Stine Julie; Hu, Shan; Frøkiær, Jorgen

    2018-01-01

    of aquaporin-2 (AQP2), which are essential for water reabsorption of tubular fluid in the collecting duct. Sex hormones have previously been shown to affect the regulation of AQP2, so we tested whether tamoxifen (TAM), a selective estrogen receptor modulator, would attenuate lithium-induced alterations...... on renal water homeostasis. Rats were treated for 14 days with lithium and TAM treatment was initiated one week after onset of lithium administration. Lithium treatment resulted in severe polyuria and reduced AQP2 expression, which was ameliorated by TAM. Consistent with this, TAM attenuated downregulation...... of AQP2 and increased phosphorylation of the cAMP responsive element binding protein (CREB), which induced AQP2 expression, in freshly isolated inner medullary collecting duct suspension prepared from lithium-treated rats. In conclusion, TAM attenuated dose-dependently polyuria, impaired urine...

  9. Bendamustine-induced nephrogenic diabetes insipidus
.

    Science.gov (United States)

    Derman, Benjamin A; Jain, Milli; McAninch, Elizabeth A; Gashti, Casey

    2017-01-01

    A 59-year-old man presented with polyuria and polydipsia immediately following his sixth cycle of rituximab and bendamustine for chronic lymphocytic leukemia. He initially compensated by increasing his oral fluid intake at home, but later developed septic shock and was admitted with orders to be kept nil per os (NPO). This prompted an episode of acute hypernatremia during which he exhibited continued polyuria with inappropriately dilute urine. Desmopressin challenge yielded no response in the urine osmolality, indicating a nephrogenic source of his diabetes insipidus (DI). He had no known exposure to other causative agents and had demonstrated a robust response to chemotherapy. The patient became eunatremic once oral intake was resumed and his infection was treated. Two months after presentation, he remained symptomatic. A trial with hydrochlorothiazide resulted in a significant increase in urine osmolality and subsequent decrease in urine output. To our knowledge, this is the first case of nephrogenic diabetes insipidus after rituximab and bendamustine exposure. We propose that bendamustine, similar to the alkylating agent ifosfamide, is toxic to the glomerulus and proximal tubule cells and is the most likely cause of the patient's nephrogenic DI.
.

  10. The Presence of Periodic Limb Movement Disorder in a Patient with Diabetes Mellitus and Optic Atrophy (Wolfram Syndrome

    Directory of Open Access Journals (Sweden)

    Bo Seong Kwon

    2014-12-01

    Full Text Available Wolfram syndrome (WFS is characterized by diabetes insipidus, diabetes mellitus, optic atrophy, and deafness (DIDMOAD, together known as DIDMOAD. This syndrome is a rare autosomal recessive neurodegenerative disorder and typically begins wtih insulin-dependent diabetes mellitus. Periodic limb movement disorder (PLMD is characterized by periodic episodes of repetitive, highly stereotyped, limb movement during sleep, which results in disturbed sleep. Its pathophysiology is unclear. It is associated with many conditions, but we were unable to find a previous report regarding WFS accompanied by PLMD. We therefore report, for the first time, about a patient with WFS presenting with PLMD and discuss its pathomechanism with a literature review.

  11. Disease: H00253 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available H00253 Neurohypophyseal diabetes insipidus (NPDI); Central Diabetes Insipidus Cent...700 PMID:16713494 ... AUTHORS ... Christensen JH, Rittig S ... TITLE ... Familial neurohypophyseal diabetes insipi

  12. Diabetes - resources

    Science.gov (United States)

    Resources - diabetes ... The following sites provide further information on diabetes: American Diabetes Association -- www.diabetes.org Juvenile Diabetes Research Foundation International -- www.jdrf.org National Center for Chronic Disease Prevention and Health Promotion -- ...

  13. False diagnosis of type 1 diabetes mellitus and its complications in Wolfram syndrome--is it the reason for the low number of reported cases of this abnormality?

    Science.gov (United States)

    Homa, Katarzyna; Stefański, Adam; Zmysłowska, Agnieszka; Molęda, Piotr; Bryśkiewicz, Marta Ewa; Majkowska, Liliana

    2014-01-01

    Wolfram syndrome (WS), also known as DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Deafness), is a rare autosomal recessive syndrome (1/770,000 in the United Kingdom), characterised by juvenile onset of diabetes mellitus, optic nerve atrophy, diabetes insipidus, sensorineural deafness, renal tract and neurological abnormalities, and primary gonadal atrophy. WS is caused mainly by biallelic mutations in the WFS1 gene, which encodes wolframin. Wide tissue distribution of wolframin and many mutations in the wolframin gene resulting in Wolfram syndrome may contribute to different phenotypes and the unusual combinations of clinical features. We describe a female patient with Wolfram syndrome diagnosed at the age of 25, with a previous false diagnosis of type 1 diabetes mellitus and misdiagnosed diabetic complications. The patient was found to be a compound heterozygote for two novel mutations in exon 8 of WFS1 gene: a 2-bp deletion AT at nt 1539 leading to a frameshift (Y513fs) and a single-base substitution 1174C > T resulting in a stop codon (Q392X). A detailed analysis of the patient's medical history and a review of the literature suggest that many cases of Wolfram syndrome may remain undiagnosed due to misdiagnosis as type 1 diabetes mellitus and incorrect interpretation of clinical symptoms of neurodegenerative abnormalities, especially in their early stages.

  14. p - n junction diodes fabricated from isolated electrospun fibers of (P(NDI2ODT2)) and an inorganic p-doped semiconductor

    Science.gov (United States)

    Rosado, Alexander; Pinto, Nicholas

    2013-03-01

    A simple method to fabricate, under ambient conditions and within seconds, p - n diodes using an individual electrospun poly{[N, N'-bis(2-octyldodecyl)-naphthalene-1,4,5,8-bis(dicarboximide)-2,6-diyl]-alt-5,5'-(2,2'-bithiophene)}-(P(NDI2ODT2)) fiber and a commercially available p-doped Si/SiO2 substrate is presented. Band bending at the fiber/Si+ interface leads to asymmetric I-V characteristic curves resembling that of a diode. The diode turn-on voltage was in the range 1V and was unaffected via UV light irradiation. The rectification ratio however could be tuned reversibly thereby making this device multifunctional. In addition to being a rectifier, the advantage of our design is the complete exposure of the rectifying junction to the surrounding environment. This has the advantage of making them attractive candidates in the potential fabrication of low power, sensitive and rapid response photo-sensors. NSF

  15. Monogenic Diabetes

    Science.gov (United States)

    ... but can return later in life How are MODY and neonatal diabetes diagnosed? Because monogenic diabetes is rare, this diagnosis ... type 1 or type 2 diabetes and identify MODY or neonatal diabetes. Blood tests Blood tests of glucose levels, and ...

  16. Women and Diabetes -- Diabetes Medicines

    Science.gov (United States)

    ... Audience For Women Women's Health Topics Women and Diabetes - Diabetes Medicines Share Tweet Linkedin Pin it More sharing ... 1-800-332-1088 to request a form. Diabetes Medicines The different kinds of diabetes medicines are ...

  17. Acute fatty liver of pregnancy with hypoglycaemia, diabetes insipidus and pancreatitis, preceded by intrahepatic cholestasis of pregnancy.

    Science.gov (United States)

    English, Nicola; Rao, Jegajeeva

    2015-04-15

    We present the case of a 33-year-old woman in her first pregnancy. She presented with pruritus at 34 weeks gestation. A diagnosis of intrahepatic cholestasis of pregnancy was made based on elevated bile acids and elevated liver transaminases. She re-presented 4 days later, jaundiced with abdominal pain and nausea, and was hypertensive. Her bilirubin was now elevated and her creatinine had doubled. The differential diagnosis-included pre-eclampsia and Hemolysis Elevated Liver enzymes Low Platelet count (HELLP) syndrome, and delivery was expedited. Postnatally, the patient became coagulopathic, though not thrombocytopaenic; she had persistent hypoglycaemia, hyponatraemia, developed acute pancreatitis and had profound ascites and peripheral oedema. Management was supportive with multidisciplinary care and over a period of 3 weeks she made a full clinical and biochemical recovery. 2015 BMJ Publishing Group Ltd.

  18. Effect of the cGMP pathway on AQP2 expression and translocation: potential implications for nephrogenic diabetes insipidus.

    NARCIS (Netherlands)

    Boone, M.; Kortenoeven, M.L.A.; Robben, J.H.; Deen, P.M.T.

    2010-01-01

    BACKGROUND: Arginine vasopressin (AVP) binding to the V2 receptor (V2R) in renal collecting duct principal cells induces a cAMP signalling cascade resulting in the activation of protein kinase A (PKA), translocation of aquaporin-2 (AQP2) to the apical membrane and an increase in AQP2 expression.

  19. A biphasic response of urinary prostaglandin E2 excretion to water deprivation in conscious diabetes insipidus Brattleboro rats

    DEFF Research Database (Denmark)

    Kanters, J K; Holstein-Rathlou, N H; Christensen, P

    1989-01-01

    The effects of water deprivation on the urinary excretion rate of prostaglandin E2 (PGE2) were examined in conscious Brattleboro rats. In order to study the time course of the changes in the PGE2 excretory rate, urine was collected in 6 periods, Control: 0-1 hour (h.). 1: 3-4.5 h., 8-10 h., III: 12......-15 h., IV: 24-28 h. and V: 32-36 h. after removal of water and food. It was found that the PGE2 excretion rate changed in a biphasic pattern. During the first 2 experimental periods it increased. Thereafter it decreased towards the control value. There was an increase in PGE2 excretion with urinary...

  20. Inflammatory Myofibroblastic Tumor Presenting with Diabetes Insipidus in an Eight-Year-Old Boy: A Case Report.

    Science.gov (United States)

    Sarı, Erkan; Ataş, Erman; Bulut, Engin Burak; Sarı, Sebahattin; Akın, Onur; Saldır, Mehmet; Karslıoğlu, Yıldırım; Yeşilkaya, Ediz

    2015-12-01

    Inflammatory myofibroblastic tumors (IMT) develop as a non-neoplastic proliferation of myofibroblasts in a myxoid to collagenous stroma admixed with inflammatory cells. The symptoms depend on the specific location of the tumor, which can be anywhere, but is particularly in the respiratory system. Thus, patients with IMT can present with a variety of findings. A pediatric patient with IMT who presented with cough, breathlessness, polyuria-polydipsia, and convulsions is described in this report.

  1. Prenatal growth restriction, retinal dystrophy, diabetes insipidus and white matter disease: expanding the spectrum of PRPS1-related disorders

    NARCIS (Netherlands)

    Al-Maawali, Almundher; Dupuis, Lucie; Blaser, Susan; Heon, Elise; Tarnopolsky, Mark; Al-Murshedi, Fathiya; Marshall, Christian R.; Paton, Tara; Scherer, Stephen W.; Roelofsen, Jeroen; van Kuilenburg, André B. P.; Mendoza-Londono, Roberto; Boycott, Kym; Friedman, Jan; Michaud, Jacques; Bernier, Francois; Brudno, Michael; Fernandez, Bridget; Knoppers, Bartha; Samuels, Mark; Scherer, Steve; Marcadier, Janet; Beaulieu, Chandree

    2015-01-01

    PRPS1 codes for the enzyme phosphoribosyl pyrophosphate synthetase-1 (PRS-1). The spectrum of PRPS1-related disorders associated with reduced activity includes Arts syndrome, Charcot-Marie-Tooth disease-5 (CMTX5) and X-linked non-syndromic sensorineural deafness (DFN2). We describe a novel phenotype

  2. Diabetic Hypoglycemia

    Science.gov (United States)

    Diabetic hypoglycemia Overview For people with diabetes, low blood sugar (hypoglycemia) occurs when there's too much insulin ... your blood sugar into a normal range. Untreated, diabetic hypoglycemia can lead to seizures and loss of ...

  3. Diabetic Emergencies

    Science.gov (United States)

    ... Campaigns Share this! EmergencyCareForYou » Emergency 101 » Diabetic Emergencies Diabetic Emergencies It is estimated that more than 20 ... they have it. The best way to prevent diabetic emergencies is to effectively manage the disease through ...

  4. Diabetes Medicines

    Science.gov (United States)

    Diabetes means your blood glucose, or blood sugar, levels are too high. If you can't control your diabetes with wise food choices and physical activity, you may need diabetes medicines. The kind of medicine you take depends ...

  5. diabetic patients

    Directory of Open Access Journals (Sweden)

    Mehraban Falahati

    2016-09-01

    candiduria and female gender, high FBS and urine glucose, uncontrolled diabetes (HbA1c ≥8, and acidic urine pH (P<0.05. Conclusion: Considering the high incidence rate of candiduria in diabetic patients, control of diabetes, predisposing factors, and causal relationships between diabetes and candiduria should be highlighted.

  6. Diabetic Retinopathy

    Science.gov (United States)

    ... pregnancy may have rapid onset or worsening of diabetic retinopathy. Symptoms and Detection What are the symptoms of diabetic retinopathy and ... with diabetes protect their vision? Vision lost to diabetic retinopathy is ... However, early detection and treatment can reduce the risk of blindness ...

  7. Molecular characterization of WFS1 in patients with Wolfram syndrome

    NARCIS (Netherlands)

    Van den Ouweland, JMW; Cryns, K; Pennings, RJE; Walraven, [No Value; Janssen, GMC; Maassen, JA; Veldhuijzen, BFE; Arntzenius, AB; Lindhout, D; Cremers, CWRJ; Van Camp, G; Dikkeschei, LD

    Wolfram (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness) syndrome is a rare autosomal-recessive neurodegenerative disorder that is characterized by juvenile-onset diabetes mellitus, optic atrophy, diabetes insipidus, and sensorineural hearing impairment. A gene responsible for

  8. Molecular characterization of WFS1 in patients with Wolfram syndrome.

    NARCIS (Netherlands)

    Ouweland, J.M.W. van den; Cryns, K.; Pennings, R.J.E.; Walraven, I.; Janssen, G.M.; Maassen, J.A.; Veldhuijzen, B.F.; Arntzenius, A.B.; Lindhout, D.; Cremers, C.W.R.J.; Camp, G. van; Dikkeschei, L.D.

    2003-01-01

    Wolfram (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness) syndrome is a rare autosomal-recessive neurodegenerative disorder that is characterized by juvenile-onset diabetes mellitus, optic atrophy, diabetes insipidus, and sensorineural hearing impairment. A gene responsible for

  9. Diabetic ketoacidosis

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/000320.htm Diabetic ketoacidosis To use the sharing features on this page, please enable JavaScript. Diabetic ketoacidosis (DKA) is a life-threatening problem that ...

  10. Diabetes Complications

    Science.gov (United States)

    If you have diabetes, your blood glucose, or blood sugar, levels are too high. Over time, this can cause problems with other body ... as your kidneys, nerves, feet, and eyes. Having diabetes can also put you at a higher risk ...

  11. Diabetes Myths

    Science.gov (United States)

    ... Text Size: A A A Listen En Español Diabetes Myths On behalf of the millions of Americans ... or obese, you will eventually develop type 2 diabetes. Fact: Being overweight is a risk factor for ...

  12. Gestational diabetes

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/000896.htm Gestational diabetes To use the sharing features on this page, please enable JavaScript. Gestational diabetes is high blood sugar (glucose) that starts or ...

  13. Women and Diabetes

    Medline Plus

    Full Text Available ... Diabetes How to Report Problems with Glucose Meters Diabetes Treatments Some people with diabetes need to take diabetes ... talk with your health care provider about your diabetes treatment. Diabetes Medicines - easy-to-read booklet for women ...

  14. Diabetes Medicines

    Science.gov (United States)

    ... Ways to Prevent Type 2 Diabetes We Have the Power to Prevent Diabetes: Tips for American Indians & Alaska ... pressure instead of using a needle to deliver the insulin. What oral ... eating and physical activity habits to manage your type 2 diabetes. You can ...

  15. Diabetic retinopathy

    DEFF Research Database (Denmark)

    Wong, Tien Y; Cheung, Chui Ming Gemmy; Larsen, Michael

    2016-01-01

    Diabetic retinopathy (DR) is a common complication of diabetes mellitus and is a major cause of vision loss in middle-aged and elderly people. One-third of people with diabetes have DR. Severe stages of DR include proliferative DR, caused by the abnormal growth of new retinal blood vessels......, and diabetic macular oedema, in which there is exudation and oedema in the central part of the retina. DR is strongly associated with a prolonged duration of diabetes, hyperglycaemia and hypertension. It is traditionally regarded as a microvascular disease, but retinal neurodegeneration is also involved...... (VEGF). Optimal control of blood glucose and blood pressure in individuals with diabetes remains the cornerstone for preventing the development and arresting the progression of DR. Anti-VEGF therapy is currently indicated for diabetic macular oedema associated with vision loss, whereas laser...

  16. A Challenging Form of Non-autoimmune Insulin-Dependent Diabetes in a Wolfram Syndrome Patient with a Novel Sequence Variant.

    Science.gov (United States)

    Paris, Liliana P; Usui, Yoshihiko; Serino, Josefina; Sá, Joaquim; Friedlander, Martin

    2015-06-01

    Wolfram syndrome type 1 is a rare, autosomal recessive, neurodegenerative disorder that is diagnosed when insulin-dependent diabetes of non-auto-immune origin and optic atrophy are concomitantly present. Wolfram syndrome is also designated by DIDMOAD that stands for its most frequent manifestations: diabetes insipidus, diabetes mellitus, optic atrophy and deafness. With disease progression, patients also commonly develop severe neurological and genito-urinary tract abnormalities. When compared to the general type 1 diabetic population, patients with Wolfram Syndrome have been reported to have a form of diabetes that is more easily controlled and with less microvascular complications, such as diabetic retinopathy. We report a case of Wolfram syndrome in a 16-year-old male patient who presented with progressive optic atrophy and severe diabetes with very challenging glycemic control despite intensive therapy since diagnosis at the age of 6. Despite inadequate metabolic control he did not develop any diabetic microvascular complications during the 10-year follow-up period. To further investigate potential causes for this metabolic idiosyncrasy, we performed genetic analyses that revealed a novel combination of homozygous sequence variants that are likely the cause of the syndrome in this family. The identified genotype included a novel sequence variant in the Wolfram syndrome type 1 gene along with a previously described one, which had initially been associated with isolated low frequency sensorineural hearing loss (LFSNHL). Interestingly, our patient did not show any abnormal findings with audiometry testing.

  17. A Challenging Form of Non-autoimmune Insulin-Dependent Diabetes in a Wolfram Syndrome Patient with a Novel Sequence Variant

    Science.gov (United States)

    Paris, Liliana P; Usui, Yoshihiko; Serino, Josefina; Sá, Joaquim; Friedlander, Martin

    2015-01-01

    Wolfram syndrome type 1 is a rare, autosomal recessive, neurodegenerative disorder that is diagnosed when insulin-dependent diabetes of non-auto-immune origin and optic atrophy are concomitantly present. Wolfram syndrome is also designated by DIDMOAD that stands for its most frequent manifestations: diabetes insipidus, diabetes mellitus, optic atrophy and deafness. With disease progression, patients also commonly develop severe neurological and genito-urinary tract abnormalities. When compared to the general type 1 diabetic population, patients with Wolfram Syndrome have been reported to have a form of diabetes that is more easily controlled and with less microvascular complications, such as diabetic retinopathy. We report a case of Wolfram syndrome in a 16-year-old male patient who presented with progressive optic atrophy and severe diabetes with very challenging glycemic control despite intensive therapy since diagnosis at the age of 6. Despite inadequate metabolic control he did not develop any diabetic microvascular complications during the 10-year follow-up period. To further investigate potential causes for this metabolic idiosyncrasy, we performed genetic analyses that revealed a novel combination of homozygous sequence variants that are likely the cause of the syndrome in this family. The identified genotype included a novel sequence variant in the Wolfram syndrome type 1 gene along with a previously described one, which had initially been associated with isolated low frequency sensorineural hearing loss (LFSNHL). Interestingly, our patient did not show any abnormal findings with audiometry testing. PMID:26819810

  18. Diabetic Eye Disease

    Science.gov (United States)

    ... Disease, & Other Dental Problems Diabetes & Sexual & Urologic Problems Diabetic Eye Disease What is diabetic eye disease? Diabetic eye disease is a group ... eye diseases that can threaten your sight are Diabetic retinopathy The retina is the inner lining at ...

  19. Women and Diabetes

    Medline Plus

    Full Text Available ... How to Report Problems with Glucose Meters Diabetes Treatments Some people with diabetes need to take diabetes ... with your health care provider about your diabetes treatment. Diabetes Medicines - easy-to-read booklet for women ...

  20. Women and Diabetes

    Medline Plus

    Full Text Available ... has lots of free information to help you manage your diabetes. General Tips Diabetes Treatments Diabetes and ... Check these resources for tips to help you manage your diabetes. Food Safety for People with Diabetes ...

  1. Women and Diabetes

    Medline Plus

    Full Text Available ... diabetes. Food Safety for People with Diabetes Your Glucose Meter - easy-to-read booklet for women Other ... Information on Diabetes How to Report Problems with Glucose Meters Diabetes Treatments Some people with diabetes need ...

  2. Type 1 diabetes

    Science.gov (United States)

    Insulin-dependent diabetes; Juvenile onset diabetes; Diabetes - type 1; High blood sugar - type 1 diabetes ... Type 1 diabetes can occur at any age. It is most often diagnosed in children, adolescents, or young adults. Insulin is ...

  3. Genetics of Diabetes

    Science.gov (United States)

    ... A A A Listen En Español Genetics of Diabetes You've probably wondered how you developed diabetes. ... to develop diabetes than others. What Leads to Diabetes? Type 1 and type 2 diabetes have different ...

  4. Types of Diabetes

    Science.gov (United States)

    ... Diabetes, Sexual, & Bladder Problems Clinical Trials What is Diabetes? Diabetes is a disease that occurs when your ... is serious. What are the different types of diabetes? The most common types of diabetes are type ...

  5. Diabetes eye exams

    Science.gov (United States)

    Diabetic retinopathy - eye exams; Diabetes - eye exams; Glaucoma - diabetic eye exam; Macular edema - diabetic eye exam ... if the doctor who takes care of your diabetes checks your eyes, you need an eye exam ...

  6. Living With Diabetes

    Science.gov (United States)

    ... Problems Diabetes, Sexual, & Bladder Problems Clinical Trials Managing Diabetes You can manage your diabetes and live a ... you have diabetes. How can I manage my diabetes? With the help of your health care team, ...

  7. Increasing incidence of diabetes after gestational diabetes

    DEFF Research Database (Denmark)

    Lauenborg, Jeannet; Hansen, Torben; Jensen, Dorte Møller

    2004-01-01

    To study the incidence of diabetes among women with previous diet-treated gestational diabetes mellitus (GDM) in the light of the general increasing incidence of overweight and diabetes and to identify risk factors for the development of diabetes.......To study the incidence of diabetes among women with previous diet-treated gestational diabetes mellitus (GDM) in the light of the general increasing incidence of overweight and diabetes and to identify risk factors for the development of diabetes....

  8. Diabetes and Pregnancy: Gestational Diabetes

    Centers for Disease Control (CDC) Podcasts

    2007-11-14

    Gestational diabetes happens in a woman who develops diabetes during pregnancy. This podcast discusses its potential effects and action steps to avoid complications.  Created: 11/14/2007 by National Center for Chronic Disease Prevention and Health Promotion (NCCDPHP), Division of Diabetes Translation (DDT) and National Center on Birth Defects and Developmental Disabilities (NCBDDD), Prevention Research Branch.   Date Released: 11/27/2007.

  9. Diabetes mellitus

    NARCIS (Netherlands)

    Ahdi, M.; Gerdes, V. E.; Hoekstra, J. B.; Meesters, E. W.

    2012-01-01

    Currently there are over 740,000 patients with diabetes mellitus in the Netherlands, and this number will increase further in the coming years. Approximately 90% of patients has type 2 diabetes, a metabolic disorder that is often associated with obesity, hypertension and increased cholesterol

  10. Gestational diabetes

    African Journals Online (AJOL)

    recognition of diabetes during pregnancy.1D.n However, GOM has sufficient .... If the plasma glucose value at 1 hour is over 7.8 mmolll, the ..... OeFronzo RA Pathogenesis of type 2 (non-insulin dependent) diabetes: a balanced overview.

  11. Diabetes Detection

    Centers for Disease Control (CDC) Podcasts

    Diabetes is among the most common chronic diseases in the U.S. and the seventh leading cause of death. Over 90 percent of cases are type 2. In this podcast, Dr. Ann Albright discusses ways to prevent or control diabetes.

  12. Transsphenoidal surgery and diabetes mellitus: An analysis of inpatient data and complications.

    Science.gov (United States)

    Pines, Morgan J; Raikundalia, Milap D; Svider, Peter F; Baredes, Soly; Liu, James K; Eloy, Jean Anderson

    2015-10-01

    Transsphenoidal surgery (TSS) has emerged as the standard approach for pituitary resection due to its minimally invasive nature. There has been little analysis examining the impact of diabetes mellitus (DM) on patients undergoing TSS. In this study, we characterize DM's association with postoperative TSS complications. In addition to analysis of associated charges and patient demographics, we performed comparison of complication rates between DM and non-DM patients who have undergone TSS in recent years. The Nationwide Inpatient Sample, a database encompassing nearly 8 million inpatient hospitalizations, was evaluated for patients undergoing TSS from 2002 to 2010. Of 12,938 TSS patients, 2,173 (16.8%) had a DM diagnosis. The non-DM cohort was younger (50.1 y ± 16.6SD vs. 56.8 y ± 14.1; P complications, and had a lesser incidence of diabetes insipidus (P complications was present only among patients diabetics when compared to non-DM blacks. DM is associated with greater length of stay and hospital charges among TSS patients. DM patients undergoing TSS have a significantly greater incidence of pulmonary and fluid/electrolyte complications among patients under the age of 60, and greater risk for urinary/renal complications across all ages. Despite a theoretical concern due to an impaired wound-healing in DM patients, association with cerebrospinal fluid rhinorrhea was only noted among black diabetics. 2C. © 2015 The American Laryngological, Rhinological and Otological Society, Inc.

  13. Weight and Diabetes (For Parents)

    Science.gov (United States)

    ... Teens Diabetes Center Can Diabetes Be Prevented? Your Child's Diabetes Health Care Team Type 1 Diabetes: What Is ... Mass Index (BMI) Charts Eating Out When Your Child Has Diabetes Meal Plans and Diabetes Treating Type 2 Diabetes ...

  14. Diabetes Movie (For Parents)

    Medline Plus

    Full Text Available ... Endocrine System Diabetes Center Diabetes: DJ's Story (Video) Diabetes: Marco's Story (Video) View more About Us Contact Us Partners Editorial Policy Permissions Guidelines Privacy ...

  15. Diabetes mellitus

    OpenAIRE

    Skiadopoulos, Dionysios

    2013-01-01

    This theses on Diabetes Mellitus aims at giving an insight at various aspects of this chronic disease and the risk factors that lead to it; the varius ways it develops in the human body; the old and new approaches to treatment, both from a pharmacological and a non- pharmacologiacal point of view; ways to prevent and to manage the diabetes complications; how to improve the live of the diabetic patients who are faced with not only physical but also psychological problems; statistical data from...

  16. Diabetic Ketoacidosis

    Science.gov (United States)

    ... ketones build up in the blood and eventually "spill over" into the urine. Diabetic ketoacidosis is usually ... your heart, muscles and nerves. Swelling in the brain (cerebral edema). Adjusting your blood sugar level too ...

  17. Diabetic Retinopathy.

    African Journals Online (AJOL)

    AmL

    diabetic foot were significantly associated with DR. Within patients' practice, regular .... Major limb complications included foot ulcer, claudication .... Flat. 217 44.5 66 30.6. Family income / month (KD). 1500. 45 9.2 24 ...

  18. Immunizations - diabetes

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/patientinstructions/000331.htm Immunizations - diabetes To use the sharing features on this page, please enable JavaScript. Immunizations (vaccines or vaccinations) help protect you from some ...

  19. Aglycosuric Diabetes

    Science.gov (United States)

    Spaulding, W. B.; Spitzer, W. O.; Truscott, P. W.

    1963-01-01

    The usefulness of urine tests for glucose was compared with that of blood sugar determinations in detecting diabetes mellitus in 2000 medical outpatients. Eighty-five patients proved to be diabetic, but 33 of these had no glycosuria on their first visit and would not have been detected by laboratory tests had the blood glucose levels not been measured. Exactly one-half of the new diabetics discovered would have been missed (15 of 30) had only urine tests been performed. The new diabetics who were aglycosuric at their initial examination had a mild form of the disease, were predominantly elderly, and were controlled, in nearly every case, by diet alone. Most of these patients had evidence of an elevated renal threshold for glucose. These results indicate that there is a large group of patients with mild, asymptomatic, diabetes mellitus who remain undetected unless blood tests are employed routinely. Because they have little or no glycosuria these patients do not have polydipsia, polyphagia, polyuria, or loss of weight. Automation in the medical laboratory has made routine blood tests for glucose feasible and rewarding in detecting diabetes mellitus. PMID:20327667

  20. Treating Type 2 Diabetes

    Science.gov (United States)

    ... health care team is there for you. Your child's diabetes management plan should be easy to understand, detailed, ... Can Diabetes Be Prevented? Monitoring Blood Sugar Your Child's Diabetes Health Care Team Medicines for Diabetes Type 2 ...

  1. Women and Diabetes

    Medline Plus

    Full Text Available ... Medicines and Devices Beware of Illegally Sold Diabetes Treatments Diabetes and Pregnancy Some women develop diabetes for the ... Clinical trials can help doctors learn more about treatments for diabetes. The FDA Office of Women's Health is partnering ...

  2. Diabetes Prevention Program (DPP)

    Science.gov (United States)

    ... Recruiting Patients & Families Consortia, Networks & Centers Reports & Planning Diabetes Prevention Program (DPP) The NIDDK-sponsored Diabetes Prevention ... Diabetes Prevention Program for those who are eligible. Diabetes Prevention Program (DPP) DPP Goal The DPP looked ...

  3. Women and Diabetes

    Science.gov (United States)

    ... Audience For Women Women's Health Topics Women and Diabetes Share Tweet Linkedin Pin it More sharing options ... Diabetes How to Report Problems with Glucose Meters Diabetes Treatments Some people with diabetes need to take ...

  4. Diabetes and nerve damage

    Science.gov (United States)

    Diabetic neuropathy; Diabetes - neuropathy; Diabetes - peripheral neuropathy ... In people with diabetes, the body's nerves can be damaged by decreased blood flow and a high blood sugar level. This condition is ...

  5. Diabetes and Pregnancy

    Science.gov (United States)

    Diabetes is a disease in which your blood glucose, or blood sugar, levels are too high. When ... pregnant women in the United States get gestational diabetes. Gestational diabetes is diabetes that happens for the ...

  6. National Diabetes Education Program

    Science.gov (United States)

    ... Living Tips About WIN NIDDK Information Clearinghouses National Diabetes Education Program Together with more than 200 partners ... type 2 diabetes. Learn more about NDEP . National Diabetes Month You are the center of your diabetes ...

  7. Women and Diabetes

    Medline Plus

    Full Text Available ... Diabetes Information on WebMD Order Free Women's Health Publications Women's Health Information on Twitter Information from Other Government Agencies and Offices National Diabetes Education Program Diabetes Information on MedlinePlus Diabetes and Depression ...

  8. Women and Diabetes

    Medline Plus

    Full Text Available ... Beware of Illegally Sold Diabetes Treatments Diabetes and Pregnancy Some women develop diabetes for the first time ... care provider about how to manage diabetes during pregnancy. Medicine and Pregnancy Fact Sheet Pregnancy Registries - Sign- ...

  9. Women and Diabetes

    Medline Plus

    Full Text Available ... women with diabetes can make a difference. Other Resources from the FDA FDA Information on Diabetes Treatment ... for Women Pregnancy Menopause More Women's Health Topics Resources for You YourDiabetesInfo.org American Diabetes Association Get ...

  10. Women and Diabetes

    Medline Plus

    Full Text Available ... from Other Government Agencies and Offices National Diabetes Education Program Diabetes Information on MedlinePlus Diabetes and Depression in Older Women More in Women's Health Topics Mammography Women and Diabetes HPV, HIV, Birth ...

  11. Diabetes Movie (For Parents)

    Medline Plus

    Full Text Available ... Diabetes: Lindsey's Story (Video) Diabetes Center Movie: Endocrine System Diabetes Center Diabetes: ... All information on KidsHealth® is for educational purposes only. For specific medical advice, diagnoses, and ...

  12. Women and Diabetes

    Medline Plus

    Full Text Available ... Food Safety for People with Diabetes Your Glucose Meter - easy-to-read booklet for women Other FDA ... on Diabetes How to Report Problems with Glucose Meters Diabetes Treatments Some people with diabetes need to ...

  13. Women and Diabetes

    Medline Plus

    Full Text Available ... Audience For Women Women's Health Topics Women and Diabetes Share Tweet Linkedin Pin it More sharing options ... Diabetes How to Report Problems with Glucose Meters Diabetes Treatments Some people with diabetes need to take ...

  14. Diabetes Movie (For Parents)

    Medline Plus

    Full Text Available ... Feelings Expert Answers Q&A Movies & More for Teens Teens site Sitio para adolescentes Body Mind Sexual Health ... diabetes. More on this topic for: Parents Kids Teens Diabetes Center Diabetes: Marco's Story (Video) Diabetes: Grace's ...

  15. The diabetes medication Canagliflozin reduces cancer cell proliferation by inhibiting mitochondrial complex-I supported respiration

    Directory of Open Access Journals (Sweden)

    Linda A. Villani

    2016-10-01

    Full Text Available Objective: The sodium-glucose transporter 2 (SGLT2 inhibitors Canagliflozin and Dapagliflozin are recently approved medications for type 2 diabetes. Recent studies indicate that SGLT2 inhibitors may inhibit the growth of some cancer cells but the mechanism(s remain unclear. Methods: Cellular proliferation and clonogenic survival were used to assess the sensitivity of prostate and lung cancer cell growth to the SGLT2 inhibitors. Oxygen consumption, extracellular acidification rate, cellular ATP, glucose uptake, lipogenesis, and phosphorylation of AMP-activated protein kinase (AMPK, acetyl-CoA carboxylase, and the p70S6 kinase were assessed. Overexpression of a protein that maintains complex-I supported mitochondrial respiration (NDI1 was used to establish the importance of this pathway for mediating the anti-proliferative effects of Canagliflozin. Results: Clinically achievable concentrations of Canagliflozin, but not Dapagliflozin, inhibit cellular proliferation and clonogenic survival of prostate and lung cancer cells alone and in combination with ionizing radiation and the chemotherapy Docetaxel. Canagliflozin reduced glucose uptake, mitochondrial complex-I supported respiration, ATP, and lipogenesis while increasing the activating phosphorylation of AMPK. The overexpression of NDI1 blocked the anti-proliferative effects of Canagliflozin indicating reductions in mitochondrial respiration are critical for anti-proliferative actions. Conclusion: These data indicate that like the biguanide metformin, Canagliflozin not only lowers blood glucose but also inhibits complex-I supported respiration and cellular proliferation in prostate and lung cancer cells. These observations support the initiation of studies evaluating the clinical efficacy of Canagliflozin on limiting tumorigenesis in pre-clinical animal models as well epidemiological studies on cancer incidence relative to other glucose lowering therapies in clinical populations. Keywords: AMP

  16. Monogenic Forms of Diabetes: Neonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young

    Science.gov (United States)

    ... After Your Baby is Born Monogenic Diabetes Monogenic Diabetes (Neonatal Diabetes Mellitus & MODY) The most common forms of diabetes, ... from each parent. What are monogenic forms of diabetes? Some rare forms of diabetes result from mutations ...

  17. A novel polymorphism in the coding region of the vasopressin type 2 receptor gene

    Directory of Open Access Journals (Sweden)

    J.L. Rocha

    1997-04-01

    Full Text Available Nephrogenic diabetes insipidus (NDI is a rare disease characterized by renal inability to respond properly to arginine vasopressin due to mutations in the vasopressin type 2 receptor (V2(R gene in affected kindreds. In most kindreds thus far reported, the mode of inheritance follows an X chromosome-linked recessive pattern although autosomal-dominant and autosomal-recessive modes of inheritance have also been described. Studies demonstrating mutations in the V2(R gene in affected kindreds that modify the receptor structure, resulting in a dys- or nonfunctional receptor have been described, but phenotypically indistinguishable NDI patients with a structurally normal V2(R gene have also been reported. In the present study, we analyzed exon 3 of the V2(R gene in 20 unrelated individuals by direct sequencing. A C®T alteration in the third position of codon 331 (AGC®AGT, which did not alter the encoded amino acid, was found in nine individuals, including two unrelated patients with NDI. Taken together, these observations emphasize the molecular heterogeneity of a phenotypically homogeneous syndrome

  18. Diabetes research

    International Nuclear Information System (INIS)

    Linfoot, J.A.; Stubbs, H.

    1981-01-01

    The aim of this study is to determine the long-term effects of alpha-particle pituitary irradiation in patients being treated for diabetic retinopathy. Of particular interest is whether the altered hormonal environment influences vision, renal function, and survival

  19. Expression of three different mutations in the arginine vasopressin gene suggests genotype-phenotype correlation in familial neurohypophyseal diabetes insipidus kindreds

    DEFF Research Database (Denmark)

    Siggaard, Charlotte; Christensen, Jane Hvarregaard; Corydon, Thomas Juhl

    2005-01-01

    reduction of the amount of immunoreactive AVP in the cell culture medium and severe impairment of the intracellular trafficking and processing of the AVP prohormone, supporting the disease causing nature of all three mutations. However, the A19T mutation was associated with some capacity for processing...... and trafficking consistent with the clinical observations. Immunoflourescence studies provided evidence of reticular accumulation of protein within the ER in the A19T and C110X mutants but a unique accumulation of much larger aggregates in the L81P, which were localized both within and immediately outside the ER...

  20. Lack of arginine vasopressin-induced phosphorylation of aquaporin-2 mutant AQP2-R254L explains dominant nephrogenic diabetes insipidus.

    NARCIS (Netherlands)

    Mattia, F.P. de; Savelkoul, P.J.M.; Kamsteeg, E.J.; Konings, I.B.M.; Sluijs, P. van der; Mallmann, R.; Oksche, A.; Deen, P.M.T.

    2005-01-01

    Water homeostasis in humans is regulated by vasopressin, which induces the translocation of homotetrameric aquaporin-2 (AQP2) water channels from intracellular vesicles to the apical membrane of renal principal cells. For this process, phosphorylation of AQP2 at S256 by cAMP-dependent protein kinase

  1. Fats for diabetics. (Letter).

    NARCIS (Netherlands)

    Katan, M.B.

    1994-01-01

    Opinion. Comments on the treatment of type 2 diabetes from the interaction between nature and nurture. Effective form of treatment for type 2 diabetes; Composition of the diet for diabetics; Identification of unsaturated fats in the diabetic diet; Risks faced by diabetic patients.

  2. Women and Diabetes

    Medline Plus

    Full Text Available ... and Devices Beware of Illegally Sold Diabetes Treatments Diabetes and Pregnancy Some women develop diabetes for the first time ... about how diabetes medicines affect women during pregnancy. Diabetes and Pregnancy (CDC) Diverse Women in Clinical Trials Campaign Clinical ...

  3. Diabetes Nutrition: Eating Out When You Have Diabetes

    Science.gov (United States)

    Diabetes nutrition: Eating out when you have diabetes Diabetes nutrition — Make restaurant meals a healthy part of your diabetes ... have diabetes, eating out while sticking to your nutrition plan has gotten easier. Many restaurants offer healthy ...

  4. Women and Diabetes

    Medline Plus

    Full Text Available ... Email Print Diabetes is a serious illness that affects over 29 million people in the United States. ... help doctors learn more about how diabetes medicines affect women during pregnancy. Diabetes and Pregnancy (CDC) Diverse ...

  5. Diabetic Nerve Problems

    Science.gov (United States)

    ... at the wrong times. This damage is called diabetic neuropathy. Over half of people with diabetes get ... you change positions quickly Your doctor will diagnose diabetic neuropathy with a physical exam and nerve tests. ...

  6. Women and Diabetes

    Medline Plus

    Full Text Available ... tips to help you manage your diabetes. Food Safety for People with Diabetes Your Glucose Meter - easy- ... to Store your Insulin during Storms and Blackouts Safety Information for Diabetes Medicines and Devices Beware of ...

  7. Women and Diabetes

    Medline Plus

    Full Text Available ... day. FDA has lots of free information to help you manage your diabetes. General Tips Diabetes Treatments ... General Tips Check these resources for tips to help you manage your diabetes. Food Safety for People ...

  8. Causes of Diabetes

    Science.gov (United States)

    ... diabetes and maturity-onset diabetes of the young (MODY). Neonatal diabetes occurs in the first 6 months of life. Doctors usually diagnose MODY during adolescence or early adulthood, but sometimes the ...

  9. Women and Diabetes

    Medline Plus

    Full Text Available ... on WebMD Order Free Women's Health Publications Women's Health Information on Twitter Information from Other Government Agencies and Offices National Diabetes Education Program Diabetes Information on MedlinePlus Diabetes and Depression ...

  10. What Is Diabetic Retinopathy?

    Science.gov (United States)

    ... Oncology Oculoplastics/Orbit Refractive Management/Intervention Retina/Vitreous Uveitis Focus On Pediatric Ophthalmology ... Retinopathy Diagnosis Diabetic Retinopathy Treatment Proliferative Diabetic Retinopathy Vision Simulator Non-Proliferative Diabetic ...

  11. "Stop Diabetes Now!"

    Science.gov (United States)

    ... of this page please turn Javascript on. Feature: Diabetes "Stop Diabetes Now!" Past Issues / Fall 2009 Table of Contents ... Tips for Seniors at Risk for Type 2 Diabetes Lifestyle changes that lead to weight loss—such ...

  12. Women and Diabetes

    Medline Plus

    Full Text Available ... from Other Government Agencies and Offices National Diabetes Education Program Diabetes Information on MedlinePlus Diabetes and Depression ... Information Safety Emergency Preparedness International Programs News & ... & Continuing Education Inspections & Compliance Federal, State & Local Officials ...

  13. Preventing Type 2 Diabetes

    Science.gov (United States)

    ... Sexual, & Bladder Problems Clinical Trials Preventing Type 2 Diabetes Perhaps you have learned that you have a ... I lower my chances of developing type 2 diabetes? Research such as the Diabetes Prevention Program shows ...

  14. Native Americans with Diabetes

    Science.gov (United States)

    ... Read the MMWR Science Clips Native Americans with Diabetes Better diabetes care can decrease kidney failure Language: ... between 1996 and 2013. Problem Kidney failure from diabetes was highest among Native Americans. Native Americans are ...

  15. Preventing Diabetes Problems

    Science.gov (United States)

    ... Problems Diabetes, Sexual, & Bladder Problems Clinical Trials Preventing Diabetes Problems View or Print All Sections Heart Disease & ... to help control symptoms and restore intimacy. Depression & Diabetes Depression is common among people with a chronic, ...

  16. Gestational Diabetes and Pregnancy

    Science.gov (United States)

    ... Pregnant Avoiding Pregnancy Zika and Pregnancy Articles Gestational Diabetes and Pregnancy Language: English (US) Español (Spanish) Recommend ... diabetes must also take insulin. Problems of Gestational Diabetes in Pregnancy Blood sugar that is not well ...

  17. Diabetes Movie (For Parents)

    Medline Plus

    Full Text Available ... Endocrine System Diabetes Center Diabetes: DJ's Story (Video) Diabetes: Marco's Story ... only. For specific medical advice, diagnoses, and treatment, consult your doctor. © 1995- The Nemours Foundation. All ...

  18. Women and Diabetes

    Medline Plus

    Full Text Available ... Diabetes Treatments Diabetes and Pregnancy General Tips Check these resources for tips to help you manage your ... and the type of diabetes you have. Use these resources to help you talk with your health ...

  19. Type 2 diabetes

    Science.gov (United States)

    ... type 2 diabetes; Oral hypoglycemic - type 2 diabetes; High blood sugar - type 2 diabetes ... your kidneys are working well ( microalbuminuria and serum creatinine ). Visit your eye doctor at least once a ...

  20. Diabetes and Dietary Supplements

    Science.gov (United States)

    ... history of diabetes, or are overweight. Physical inactivity, race, certain health problems such as high blood pressure, ... diabetes: meta-analysis of prospective cohort studies . Diabetes Car e. 2011;34(9):2116-2122. Haritoglou C, ...

  1. Women and Diabetes

    Medline Plus

    Full Text Available ... from Other Government Agencies and Offices National Diabetes Education Program Diabetes Information on MedlinePlus Diabetes and Depression ... Emergency Preparedness International Programs News & Events Training & Continuing Education Inspections & Compliance Federal, State & Local Officials Consumers Health ...

  2. Women and Diabetes

    Medline Plus

    Full Text Available ... you need depends on your health and the type of diabetes you have. Use these resources to help you ... Diabetes and Pregnancy Some women develop diabetes for the first time ...

  3. Women and Diabetes

    Medline Plus

    Full Text Available ... from Other Government Agencies and Offices National Diabetes Education Program Diabetes Information on MedlinePlus Diabetes and Depression ... Emergency Preparedness International Programs News & Events Training & Continuing ... & Compliance Federal, State & Local Officials Consumers Health ...

  4. Women and Diabetes

    Medline Plus

    Full Text Available ... Information on WebMD Order Free Women's Health Publications Women's Health Information on Twitter Information from Other Government Agencies and Offices National Diabetes Education Program Diabetes Information on MedlinePlus Diabetes and Depression ...

  5. Women and Diabetes

    Medline Plus

    Full Text Available ... Women's Health Publications Women's Health Information on Twitter Information from Other Government Agencies and Offices National Diabetes Education Program Diabetes Information on MedlinePlus Diabetes and Depression in Older Women ...

  6. Women and Diabetes

    Medline Plus

    Full Text Available ... resources to help you talk with your health care provider about your diabetes treatment. Diabetes Medicines - easy- ... resources to help you talk to your health care provider about how to manage diabetes during pregnancy. ...

  7. Women and Diabetes

    Medline Plus

    Full Text Available ... diabetes for the first time when they become pregnant. This is called gestational (jes-Tay-shun-ul) diabetes. Other women have diabetes before they get pregnant. Use these resources to help you talk to ...

  8. Tuberculosis and Diabetes

    Science.gov (United States)

    TUBERCULOSIS www.who.int/tb & DIABETES THE DUAL EPIDEMIC OF TB AND DIABETES DEADLY LINKAGES  People with ... higher risk of progressing from latent to active tuberculosis.  Diabetes triples a person’s risk of developing TB. ...

  9. Diabetes Movie (For Parents)

    Medline Plus

    Full Text Available ... Diabetes: Lindsey's Story (Video) Diabetes Center Movie: Endocrine System Diabetes ... Visit the Nemours Web site. Note: All information on KidsHealth® is for educational purposes only. For ...

  10. Women and Diabetes

    Medline Plus

    Full Text Available ... from Other Government Agencies and Offices National Diabetes Education Program Diabetes Information on MedlinePlus Diabetes and Depression in Older Women More in Women's Health Topics Mammography Women and ...

  11. Diabetes mellitus

    International Nuclear Information System (INIS)

    Ogawa, Junichiro; Ito, Chikako

    1992-01-01

    It is believed that the pancreas is low sensitive to radiation. In this chapter, the effect of radiation on the pancreas is discussed in the light of the radiosensitivity of the pancreas in animal experiments and the occurrence of diabetes mellitus in A-bomb survivors. In an experiment on the whole-body irradiation with 800 rad using rats, a decrease in insulin secretion itself has not been noted, although a decrease in blood insulin and an increase in glucagon were associated with transiently increased blood glucose. In other studies, there was neither histologically nor endocrinologically abnormal findings due to several hundreds rad of radiation in the acute stage. For A-bomb survivors, blood levels of insulin tended to be slightly increased in the 40-59 age group of A-bomb survivors exposed at ≤1.5 km than those exposed at ≥3.0 km; and in the other age groups, there was no tendency for decreased blood levels of insulin. The ABCC-RERF Adult Health Study data (1958-1960) has revealed that there is no statistically significant correlation between the prevalence of diabetes mellitus and A-bomb radiation; nor has this been noted in any other study. Neither the prevalence of diabetes mellitus nor its complications is found to be independent upon distance from the hypocenter. (N.K.)

  12. Transition to high rate aerospace NDI processes

    Science.gov (United States)

    Vanderheiden, Bert; Thomson, Clint; Ivakhnenko, Igor; Garner, Chuck

    2018-04-01

    With the rapidly expanding use of carbon fiber composite materials in military and commercial aircraft, processes to manufacture and inspect the structural components must evolve to ensure economic viability. Inspection techniques which were developed to inspect products produced at a rate of one or two structures a month are not fast or flexible enough to inspect more than 8500 parts per month. This presentation describes the evolution of phased array ultrasonic inspection systems to provide the increased rate capacity, the flexibility to accommodate multiple unique designs, and the ability to rapidly adjust to product design changes. The paper will describe how system developments were made in response to new programs resulting in a much less expensive, higher degree of accuracy, increased flexibility, and lower cycle time inspections.

  13. Step 3: Manage Your Diabetes

    Science.gov (United States)

    ... please turn JavaScript on. Feature: Type 2 Diabetes Step 3: Manage Your Diabetes Past Issues / Fall 2014 ... 2 Diabetes" Articles Diabetes Is Serious But Manageable / Step 1: Learn About Diabetes / Step 2: Know Your ...

  14. Clinical Diabetes Management

    Centers for Disease Control (CDC) Podcasts

    In this series for medical professionals, specialists from pharmacy, podiatry, optometry, and dental professions discuss preventing diabetes complications and working as part of the diabetes care team.

  15. Tips for Teens with Diabetes: About Diabetes

    Science.gov (United States)

    National Diabetes Education Program (NDEP), 2010

    2010-01-01

    Diabetes is a serious disease. It means that one's blood glucose, also called blood sugar, is too high. Having too much glucose in a person's blood is not healthy. This paper offers tips for managing diabetes.

  16. Diabetes distress among type 2 diabetic patients

    African Journals Online (AJOL)

    McRoy

    Key words: Diabetes mellitus, diabetes distress, HbA1c, glycaemic status ... [3] The management of diabetes mellitus and the ... morbidity and mortality risks associated with ... appropriate policy for prevention, control and ..... Mellitus and its Association Risk Indicators in a ... collaborative Research on Internal Medicine and.

  17. Women and Diabetes

    Medline Plus

    Full Text Available ... Report Problems with Glucose Meters Diabetes Treatments Some people with diabetes need to take diabetes medicines or insulin to help keep their blood sugar at a healthy level. What you need depends on your health and the type of diabetes you have. Use these resources to help you talk with your ...

  18. Women and Diabetes

    Medline Plus

    Full Text Available ... Diabetes Information on WebMD Order Free Women's Health Publications Women's Health Information on Twitter Information from Other ... YourDiabetesInfo.org American Diabetes Association Get Other FDA Publications for Women For Women Homepage FDA Diabetes Information ...

  19. What Is Diabetes?

    Science.gov (United States)

    ... Issue Past Issues Home Current issue contents Features: Diabetes Follow us What is Diabetes? Diabetes means your blood glucose, or blood sugar, ... of First Automated Insulin Device for Type 1 Diabetes Spring 2017 Issue: Volume 12 ... Magazine Information Contact Us Viewers & Players Friends of the National Library of ...

  20. Women and Diabetes

    Medline Plus

    Full Text Available ... Monitoring Devices FDA Diabetes Information on WebMD Order Free Women's Health Publications Women's Health Information on Twitter Information from Other Government Agencies and Offices National Diabetes Education Program Diabetes Information on MedlinePlus Diabetes and Depression ...

  1. duration diabetes mellitus

    African Journals Online (AJOL)

    ... group, type of diabetes, age of onset and duration of diabetes), presence of retinopathy, markers of nephropathy and biochemical variables. ... type 2 diabetes and for each ethnic group. Results. ... time of diabetes diagnosis in blacks than Indians. In the type ... countries, minority groups and disadvantaged communities in.

  2. Genomet og diabetes

    DEFF Research Database (Denmark)

    Allin, Kristine Højgaard; Hansen, Torben; Pedersen, Oluf Borbye

    2014-01-01

    In terms of their genetic architecture monogenic diabetes and type 2 diabetes represent two extremes. Whereas each subtype of monogenic diabetes is caused by one penetrant, rare mutation in a single gene, the genetic susceptibility to type 2 diabetes can be attributed to many low-penetrant variants...... across the genome. At present, only 10% of the genetic susceptibility to type 2 diabetes can be explained by the hitherto identified 90 genomic loci. Here we briefly review the genetics of monogenic diabetes and type 2 diabetes and outline future directions of research within this field....

  3. Diabetes Mellitus and Hypertension

    OpenAIRE

    Tuğrul, Armağan

    2014-01-01

    Hypertension is a major worldwide health problem. Its prevalence is 1.5-2 times higher in diabetic population than that in non-diabetic individuals. Its pathogenesis depends on diabetic nephropathy in type 1, whereas may be multifactorial in type 2 diabetes mellitus. In diabetics, angiotensin converting enzyme inhibitors are most widely preferred in the treatment of hypertension because of their numerous desirable effects. In this article, the most recent data are presented on the relationshi...

  4. Diabetes Care: 10 Ways to Avoid Diabetes Complications

    Science.gov (United States)

    Diabetes care: 10 ways to avoid complications Diabetes care is a lifelong responsibility. Consider 10 strategies to prevent diabetes complications. By Mayo Clinic Staff Diabetes is a serious disease. Following ...

  5. Endocrine glands

    Science.gov (United States)

    ... Diabetes Gigantism Diabetes insipidus Cushing Disease Watch this video about: Pituitary gland Testes and ovaries: Lack of sex development (unclear genitalia) Thyroid: Congenital hypothyroidism Myxedema Goiter ...

  6. Diabetes, Heart Disease, and Stroke

    Science.gov (United States)

    ... Disease, & Other Dental Problems Diabetes, Sexual, & Bladder Problems Diabetes, Heart Disease, and Stroke Having diabetes means that ... help to stop. What is the link between diabetes, heart disease, and stroke? Over time, high blood ...

  7. How to Treat Gestational Diabetes

    Science.gov (United States)

    ... A Listen En Español How to Treat Gestational Diabetes Be sure to see the latest Diabetes Forecast ... and a healthy start for your baby. Gestational Diabetes – Looking Ahead Gestational diabetes usually goes away after ...

  8. "Control Your Diabetes. For Life."

    Science.gov (United States)

    ... this page please turn Javascript on. Feature: Diabetes "Control Your Diabetes. For Life." Past Issues / Fall 2009 Table of Contents For information about "Control Your Diabetes. For Life" campaign, visit www.YourDiabetesInfo. ...

  9. Diabetes mellitus type 1

    OpenAIRE

    Desta, Semere Tekeste

    2017-01-01

    Høgskulen på Vestlandet Avdeling for helsefag for sykepleiere Tittel: Diabetes type 1 Bakgrunn for val av tema: I 2000 var det ca. 130 000 personer i Norge med diabetes, av disse hadde ca. 20 000 diabetes type 1. I dag er det ca. 230 000 personer som har diabetes i Norge. Av disse ca. 28 000 type 1 diabetes. Tallet viser hvor alvorlig sykdommen er, fordi det har vært og fortsatt er, en økning av antall diabetikere i Norge. Type 1 diabetes kan komme i alle aldersgrupper, men vanligvis...

  10. Diabetic Eye Problems

    Science.gov (United States)

    ... damage your eyes. The most common problem is diabetic retinopathy. It is a leading cause of blindness ... You need a healthy retina to see clearly. Diabetic retinopathy damages the tiny blood vessels inside your ...

  11. Women and Diabetes

    Medline Plus

    Full Text Available ... Information by Audience For Women Women's Health Topics Women and Diabetes Share Tweet Linkedin Pin it More ... women during pregnancy. Diabetes and Pregnancy (CDC) Diverse Women in Clinical Trials Campaign Clinical trials can help ...

  12. Help Teens Manage Diabetes

    Science.gov (United States)

    Skip Navigation Bar Home Current Issue Past Issues Help Teens Manage Diabetes Past Issues / Spring 2008 Table ... healthy behaviors, and conflict resolution. The CST training helps diabetic teens to make good decisions when it ...

  13. Women and Diabetes

    Medline Plus

    Full Text Available ... diabetes medicines or insulin to help keep their blood sugar at a healthy level. What you need depends on your health and the type of diabetes you have. Use these resources to ...

  14. Tropical Diabetic Hand Syndrome

    African Journals Online (AJOL)

    2015 Annals of Medical and Health Sciences Research | Published by Wolters Kluwer - Medknow. 473. Introduction ... diabetes.[2,3] Tropical diabetic hand syndrome is a terminology .... the importance of seeking medical attention immediately.

  15. Hyperglycemia and Diabetic Ketoacidosis

    Science.gov (United States)

    ... If the urine test is positive, contact your child's diabetes health care team. Tests done by a lab ... and to learn how to help bring your child's diabetes back under control. Reviewed by: Mauri Carakushansky, MD ...

  16. Cardiovascular Disease and Diabetes

    Science.gov (United States)

    ... Peripheral Artery Disease Venous Thromboembolism Aortic Aneurysm More Cardiovascular Disease & Diabetes Updated:Jan 29,2018 The following ... clear that there is a strong correlation between cardiovascular disease (CVD) and diabetes. At least 68 percent ...

  17. Women and Diabetes

    Medline Plus

    Full Text Available ... Watch and learn helpful tips about managing your diabetes medicines. Veal el video en espanol . Get tips on testing your blood sugar. Follow Us on Twitter There is good news. Diabetes can ...

  18. Bone disease in diabetes

    DEFF Research Database (Denmark)

    Shanbhogue, Vikram V.; Hansen, Stinus; Frost, Morten

    2017-01-01

    Type 1 and type 2 diabetes are generally accepted to be associated with increased bone fracture risk. However, the pathophysiological mechanisms of diabetic bone disease are poorly understood, and whether the associated increased skeletal fragility is a comorbidity or a complication of diabetes...... remains under debate. Although there is some indication of a direct deleterious effect of microangiopathy on bone, the evidence is open to question, and whether diabetic osteopathy can be classified as a chronic, microvascular complication of diabetes remains uncertain. Here, we review the current...... knowledge of potential contributory factors to diabetic bone disease, particularly the association between diabetic microangiopathy and bone mineral density, bone structure, and bone turnover. Additionally, we discuss and propose a pathophysiological model of the effects of diabetic microvascular disease...

  19. Diabetes and exercise

    Science.gov (United States)

    ... MD, Thompson SR, eds. DeLee and Drez's Orthopaedic Sports Medicine: Principles and Practice . 4th ed. Philadelphia, PA: Elsevier Saunders; 2015:chap 21. Read More Type 1 diabetes Type 2 diabetes Patient Instructions ACE ...

  20. Renal protection in diabetes

    DEFF Research Database (Denmark)

    Parving, H H; Tarnow, L; Rossing, P

    1996-01-01

    BACKGROUND: The combination of diabetes and hypertension increases the chances of progressive renal disorder and, ultimately, renal failure. Roughly 40% of all diabetics, whether insulin-dependent or not, develop diabetic nephropathy. Diabetic nephropathy is the single most important cause of end...... function in diabetic patients with incipient diabetic nephropathy. There are still no long-term trials using the new long-acting dihydropyridine calcium antagonists to treat patients with incipient nephropathy. A recent, 1-year, randomized, double-blind study in hypertensive insulin-dependent diabetic...... identical in both treatment groups, at 103 (SD 9) and 101 (SD 11) mmHg, respectively. Furthermore, a recent 5-year randomized open study in hypertensive non-insulin-dependent patients with diabetic nephropathy has revealed the same beneficial effect of a calcium antagonist and of ACE inhibition...