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[Nephrogenic diabetes insipidus].
Nephrol Ther. 2006 Nov; 2(6):387-404.NT

Abstract

Nephrogenic diabetes insipidus 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-vasopressine (AVP). Polyuria, with hyposthenuria and polydipsia are the cardinal clinical manifestations of the disease. Hypercalcemia, hypokaliemia, lithium administration and chronic renal failure are the principal causes of acquired nephrogenic diabetes insipidus. About 90 percent of patients with congenital nephrogenic diabetes insipidus are males with X-linked recessive nephrogenic diabetes insipidus who have mutations in the arginine-vasopressin receptor 2 (AVPR2) gene that codes for the vasopressin V2 receptor. The gene is located in chromosome region Xq28. In about 10 percent of the families studied, congenital nephrogenic diabetes insipidus has an autosomal recessive or autosomal dominant mode of inheritance. In these cases, mutations have been identified in the aquaporin-2 gene (AQP2), which is located in chromosome region 12q13 and codes for the vasopressin-sensitive water channel. Other inherited disorders with mild, moderate or severe inability to concentrate urine include Bartter's syndrome and Cystinosis. Identification of the molecular defect underlying congenital nephrogenic diabetes insipidus is of immediate clinical significance because early diagnosis and treatment of affected infants can avert the physical and mental retardation associated with episodes of dehydration.

Authors+Show Affiliations

Génétique des maladies rénales, service de néphrologie, départements de médecine et de physiologie, centre de recherche, hôpital du Sacré-Coeur de Montréal, université de Montréal, Montréal (Québec), Canada. daniel.bichet@umontreal.ca

Pub Type(s)

English Abstract
Journal Article
Review

Language

fre

PubMed ID

17081961

Citation

Bichet, Daniel Georges. "[Nephrogenic Diabetes Insipidus]." Nephrologie & Therapeutique, vol. 2, no. 6, 2006, pp. 387-404.
Bichet DG. [Nephrogenic diabetes insipidus]. Nephrol Ther. 2006;2(6):387-404.
Bichet, D. G. (2006). [Nephrogenic diabetes insipidus]. Nephrologie & Therapeutique, 2(6), 387-404.
Bichet DG. [Nephrogenic Diabetes Insipidus]. Nephrol Ther. 2006;2(6):387-404. PubMed PMID: 17081961.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Nephrogenic diabetes insipidus]. A1 - Bichet,Daniel Georges, Y1 - 2006/09/25/ PY - 2006/11/4/pubmed PY - 2007/2/23/medline PY - 2006/11/4/entrez SP - 387 EP - 404 JF - Nephrologie & therapeutique JO - Nephrol. Ther. VL - 2 IS - 6 N2 - Nephrogenic diabetes insipidus 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-vasopressine (AVP). Polyuria, with hyposthenuria and polydipsia are the cardinal clinical manifestations of the disease. Hypercalcemia, hypokaliemia, lithium administration and chronic renal failure are the principal causes of acquired nephrogenic diabetes insipidus. About 90 percent of patients with congenital nephrogenic diabetes insipidus are males with X-linked recessive nephrogenic diabetes insipidus who have mutations in the arginine-vasopressin receptor 2 (AVPR2) gene that codes for the vasopressin V2 receptor. The gene is located in chromosome region Xq28. In about 10 percent of the families studied, congenital nephrogenic diabetes insipidus has an autosomal recessive or autosomal dominant mode of inheritance. In these cases, mutations have been identified in the aquaporin-2 gene (AQP2), which is located in chromosome region 12q13 and codes for the vasopressin-sensitive water channel. Other inherited disorders with mild, moderate or severe inability to concentrate urine include Bartter's syndrome and Cystinosis. Identification of the molecular defect underlying congenital nephrogenic diabetes insipidus is of immediate clinical significance because early diagnosis and treatment of affected infants can avert the physical and mental retardation associated with episodes of dehydration. SN - 1769-7255 UR - https://www.unboundmedicine.com/medline/citation/17081961/[Nephrogenic_diabetes_insipidus]_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S1769-7255(06)00127-1 DB - PRIME DP - Unbound Medicine ER -
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