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nephrogenic diabetes insipidus

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https://www.readbyqxmd.com/read/29422070/copeptin-levels-and-commonly-used-laboratory-parameters-in-hospitalised-patients-with-severe-hypernatraemia-the-co-med-study
#1
Nicole Nigro, Bettina Winzeler, Isabelle Suter-Widmer, Philipp Schuetz, Birsen Arici, Martina Bally, Julie Refardt, Matthias Betz, Gani Gashi, Sandrine A Urwyler, Lukas Burget, Claudine A Blum, Andreas Bock, Andreas Huber, Beat Müller, Mirjam Christ-Crain
BACKGROUND: Hypernatraemia is common in inpatients and is associated with substantial morbidity. Its differential diagnosis is challenging, and delayed treatment may have devastating consequences. The most important hormone for the regulation of water homeostasis is arginine vasopressin, and copeptin, the C-terminal portion of the precursor peptide of arginine vasopressin, might be a reliable new parameter with which to assess the underlying cause of hypernatraemia. METHODS: In this prospective, multicentre, observational study conducted in two tertiary referral centres in Switzerland, 92 patients with severe hyperosmolar hypernatraemia (Na + > 155 mmol/L) were included...
February 9, 2018: Critical Care: the Official Journal of the Critical Care Forum
https://www.readbyqxmd.com/read/29394883/contiguous-22-1-kb-deletion-embracing-avpr2-and-arhgap4-genes-at-novel-breakpoints-leads-to-nephrogenic-diabetes-insipidus-in-a-chinese-pedigree
#2
Ying Bai, Yibing Chen, Xiangdong Kong
BACKGROUND: 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. METHODS: 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...
February 2, 2018: BMC Nephrology
https://www.readbyqxmd.com/read/29357422/tamoxifen-attenuates-development-of-lithium-induced-nephrogenic-diabetes-insipidus-in-rats
#3
Stine Julie Tingskov, Shan Hu, Jorgen Frøkiær, Tae-Hwan Kwon, Weidong Wang, Rikke Norregaard
Lithium is widely used in treatment of bipolar affective disorders, but often causes nephrogenic diabetes insipidus (NDI), a disorder characterized by severe urinary concentrating defects. Lithium-induced NDI is caused by lithium uptake by collecting duct principal cells and altered expression 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...
January 10, 2018: American Journal of Physiology. Renal Physiology
https://www.readbyqxmd.com/read/29241593/rapid-differential-diagnosis-of-diabetes-insipidus-in-a-7-month-old-infant-the-copeptin-approach
#4
J Vergier, J Fromonot, A Alvares De Azevedo Macedo, A Godefroy, E Marquant, R Guieu, M Tsimaratos, R Reynaud
INTRODUCTION: 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...
January 2018: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/29186911/prostaglandin-e2-in-the-regulation-of-water-transport-in-renal-collecting-ducts
#5
REVIEW
Yuyuan Li, Yuanyi Wei, Feng Zheng, Youfei Guan, Xiaoyan Zhang
The kidney plays a central role in the regulation of the body water balance. The process of targeting the water channel aquaporin-2 (AQP2) on the apical plasma membrane of the collecting duct (CD) principal cells is mainly regulated by the antidiuretic peptide hormone arginine vasopressin (AVP), which is responsible for the maintenance of water homeostasis. Recently, much attention has been focused on the local factors modulating renal water reabsorption by AQP2 in the collecting ducts, especially prostaglandin E2 (PGE₂)...
November 27, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29177155/novel-de-novo-avpr2-variant-in-a-patient-with-congenital-nephrogenic-diabetes-insipidus
#6
Shivani Joshi, Per Brandstrom, Niels Gregersen, Søren Rittig, Jane Hvarregaard Christensen
Early diagnosis and treatment of congenital nephrogenic diabetes insipidus (CNDI) are essential due to the risk of intellectual disability caused by repeated episodes of dehydration and rapid rehydration. Timely genetic testing for disease-causing variants in the arginine vasopressin receptor 2 (AVPR2) gene is possible in at-risk newborns with a known family history of X-linked CNDI. In this study, a Swedish male with no family history was diagnosed with CNDI at 6 months of age during an episode of gastroenteritis...
September 2017: Case Reports in Nephrology and Dialysis
https://www.readbyqxmd.com/read/29162216/treatment-regimens-by-pediatric-nephrologists-in-children-with-congenital-nephrogenic-diabetes-insipidus-a-mwpnc-study%C3%A2
#7
Cynthia D'Alessandri-Silva, Melinda Carpenter, John D Mahan
BACKGROUND: Congenital nephrogenic diabetes insipidus (NDI) is a rare genetic disorder affecting urinary concentration. Clinicians have varied medication regimens as well as nutritional plan approaches for these children. MATERIALS AND METHODS: An electronic survey was distributed to member pediatric nephrologists of the Midwest Pediatric Nephrology Consortium via email (n = 179). Questions included types of drugs prescribed, factors contributing to drug choice, common drug combinations given, and dietary/failure to thrive interventions used...
November 22, 2017: Clinical Nephrology
https://www.readbyqxmd.com/read/29138356/the-soluble-pro-renin-receptor-does-not-influence-lithium-induced-diabetes-insipidus-but-does-provoke-beiging-of-white-adipose-tissue-in-mice
#8
Kevin T Yang, Fei Wang, Xiaohan Lu, Kexin Peng, Tianxin Yang, J David Symons
Earlier we reported that the recombinant soluble (pro) renin receptor sPRR-His upregulates renal aquoporin-2 (AQP2) expression, and attenuates polyuria associated with nephrogenic diabetes insipidus (NDI) induced by vasopressin type 2 receptor (V2R) antagonism. Patients that receive lithium therapy develop polyuria associated NDI that might be secondary to downregulation of renal AQP2. We hypothesized that sPRR-His attenuates indices of NDI associated with lithium treatment. Eight-week-old male C57/BL6 mice consumed chow supplemented with LiCl (40 mmol/kg diets) for 14 days...
November 2017: Physiological Reports
https://www.readbyqxmd.com/read/29125546/hereditary-nephrogenic-diabetes-insipidus-pathophysiology-and-possible-treatment-an-update
#9
REVIEW
Serena Milano, Monica Carmosino, Andrea Gerbino, Maria Svelto, Giuseppe Procino
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...
November 10, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29120013/primary-polydipsia-in-the-medical-and-psychiatric-patient-characteristics-complications-and-therapy
#10
Clara Sailer, Bettina Winzeler, Mirjam Christ-Crain
Primary polydipsia (PP) has been defined as excessive intake of fluids. However, the pathogenesis of PP remains unexplored. Different theories include a dysfunction in the thirst mechanism, involvement of the hippocampus, stress-reducing behaviour and lesion occurrences in specific areas of the brain. Most studies have been performed in the psychiatric setting, indicating that PP coincides with schizophrenia, anxiety disorder and depression. However, an increasing number of case reports emphasise the incidence of PP in non-psychiatric patients...
November 9, 2017: Swiss Medical Weekly
https://www.readbyqxmd.com/read/29117938/functional-characterization-of-avpr2-mutants-found-in-turkish-patients-with-nephrogenic-diabetes-insipidus
#11
Beril Erdem, Angela Schulz, Emel Saglar, Ferhat Deniz, Torsten Schoneberg, Hatice Mergen
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...
November 8, 2017: Endocrine Connections
https://www.readbyqxmd.com/read/29070571/lithium-induces-aerobic-glycolysis-and-glutaminolysis-in-collecting-duct-principal-cells
#12
Mohammad Alsady, Theun de Groot, Marleen Louise Adriënne Kortenoeven, Claudia Carmone, Kim Neijman, Melissa Bekkenkamp-Grovenstein, Udo Engelke, Ron Wevers, Ruben Baumgarten, Ron Korstanje, Peter M T Deen
Lithium, given to bipolar disorder patients, causes nephrogenic diabetes insipidus (Li-NDI), a urinary concentrating defect. Li-NDI is due to downregulation of principal cell AQP2 expression, which coincides with principal cell proliferation. The metabolic effect of lithium on principal cells, however, is unknown and investigated here. Earlier, we have shown that the carbonic anhydrase (CA) inhibitor acetazolamide attenuated Li-induced downregulation in mouse collecting duct (mpkCCD) cells. Of the eight CAs present in mpkCCD cells, siRNA and drug treatments showed that downregulation of CA9 and to some extent CA12 attenuated Li-induced AQP2 downregulation...
October 25, 2017: American Journal of Physiology. Renal Physiology
https://www.readbyqxmd.com/read/28967192/the-polyuria-polydipsia-syndrome-a-diagnostic-challenge
#13
REVIEW
Nicole Nigro, Mathis Grossmann, Cherie Chiang, Warrick J Inder
The main determinants for the maintenance of water homeostasis are the hormone arginine-vasopressin (AVP) and thirst. Disturbances in these regulatory mechanisms can lead to the polyuria-polydipsia syndrome, which comprises of three different conditions: central diabetes insipidus (DI) due to insufficient secretion of AVP, nephrogenic DI caused by renal insensitivity to AVP action, and primary polydipsia due to excessive fluid intake and consequent physiologic suppression of AVP. It is crucial to determine the exact diagnosis because treatment strategies vary substantially...
October 2, 2017: Internal Medicine Journal
https://www.readbyqxmd.com/read/28939971/pharmacological-chaperones-as-potential-therapeutic-strategies-for-misfolded-mutant-vasopressin-receptors
#14
Bernard Mouillac, Christiane Mendre
Pharmacological chaperones recently opened new possibilities in G protein-coupled receptor drug discovery. Even more interestingly, some unique ligands combine pharmacological chaperoning and biased agonism properties, boosting their therapeutic interest in many human diseases resulting from G protein-coupled receptor mutation and misfolding. These compounds displaying dual characteristics would constitute a perfect treatment for congenital Nephrogenic Diabetes Insipidus, a typical conformational disease. This X-linked genetic pathology is mostly associated with inactivating mutations of the renal arginine-vasopressin V2 receptor leading to misfolding and intracellular retention of the receptor, causing the inability of patients to concentrate their urine in response to the antidiuretic hormone...
September 23, 2017: Handbook of Experimental Pharmacology
https://www.readbyqxmd.com/read/28912999/tacrolimus-aggravated-tube-feeding-syndrome-with-acute-renal-failure-in-a-pediatric-liver-transplant-recipient
#15
R Kula, M Melter, J Kunkel, C Dörfler, S Alikadic, B Knoppke, R Zant
Acute renal failure can be caused by calcineurin inhibitors (CNIs), due to arteriolopathy and altered tubular function. Within this context, we present the case of a 14-month-old liver transplant recipient who suffered an acute polyuric renal failure during a short episode of hypercaloric feeding. In our case, CNI-induced distal RTA led to nephrocalcinosis and therefore to secondary nephrogenic diabetes insipidus. The diet with high renal solute load consequently resulted in an acute polyuric renal failure with severe hypernatremic dehydration...
2017: Case Reports in Transplantation
https://www.readbyqxmd.com/read/28835864/hypokalemic-paralysis-due-to-primary-sj%C3%A3-gren-syndrome-case-report-and-review-of-the-literature
#16
A Garza-Alpirez, A C Arana-Guajardo, J A Esquivel-Valerio, M A Villarreal-Alarcón, D A Galarza-Delgado
Tubulointerstitial nephritis (TIN) is the main renal involvement associated with primary Sjögren syndrome (pSS). TIN can manifest as distal renal tubular acidosis (RTA), nephrogenic diabetes insipidus, proximal tubular dysfunction, and others. We present a 31-year-old female with hypokalemic paralysis due to distal RTA (dRTA). She received symptomatic treatment and hydroxychloroquine with a good response. There is insufficient information on whether to perform a kidney biopsy in these patients or not. The evidence suggests that there is an inflammatory background and therefore a potential serious affection to these patients, such as hypokalemic paralysis...
2017: Case Reports in Rheumatology
https://www.readbyqxmd.com/read/28742510/congenital-nephrogenic-diabetes-insipidus-in-the-corpus-hippocraticum-the-first-description
#17
Gregory Tsoucalas, Marianna Karamanou
No abstract text is available yet for this article.
April 2017: Hormones: International Journal of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28736155/integrin-linked-kinase-regulates-the-transcription-of-aqp2-by-nfatc3
#18
Marco Hatem-Vaquero, Mercedes Griera, Wieslawa Giermakowska, Alicia Luengo, Laura Calleros, Laura V Gonzalez Bosc, Diego Rodríguez-Puyol, Manuel Rodríguez-Puyol, Sergio De Frutos
Two processes are associated with progressive loss of renal function: 1) decreased aquaporin-2 (AQP2) expression and urinary concentrating capacity (Nephrogenic Diabetes Insipidus, NDI); and 2) changes in extracellular matrix (ECM) composition, e.g. increased collagen I (Col I) deposition, characteristic of tubule-interstitial fibrosis. AQP2 expression is regulated by both the ECM-to-intracellular scaffold protein integrin-linked kinase (ILK) by NFATc/AP1 and other transcription factors. In the present work, we used in vivo and in vitro approaches to examine ILK participation in NFATc3/AP-1-mediated increases in AQP2 gene expression...
September 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28645353/actualit%C3%A3-s-autour-de-la-prise-en-charge-des-diab%C3%A3-tes-insipides-centraux-management-of-central-diabetes-insipidus-in-2016
#19
H Lasolle, F Borson-Chazot
Diabetes insipidus is a syndrome that associates both hypotonic polyuria and polydipsia, due to insufficient or ineffective arginine vasopressin (AVP) synthesis, or to AVP resistance. The diagnosis between central/renal origin, or an abnormal thirst regulation (primary polydipsia) is required to organize an adapted management. Because water deprivation tests are not reliable, it's often based on medical history, response to treatment and MRI. Copeptin is an AVP precursor which could be very helpful for the diagnosis...
October 2016: Annales D'endocrinologie
https://www.readbyqxmd.com/read/28615247/lithium-induced-ndi-acetazolamide-reduces-polyuria-but-does-not-improve-urine-concentrating-ability
#20
MULTICENTER STUDY
Theun de Groot, Joan Doornebal, Birgitte M Christensen, Simone Cockx, Anne P Sinke, Ruben Baumgarten, Jennifer J Bedford, Robert J Walker, Jack F M Wetzels, Peter M T Deen
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...
September 1, 2017: American Journal of Physiology. Renal Physiology
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