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Article

Mutations in the vasopressin V2 receptor gene in two families with nephrogenic diabetes insipidus.

Journal of the American Society of Nephrology : JASN - 1 Aug 1994

Holtzman E J, Kolakowski L F, Geifman-Holtzman O, O'Brien D G, Rasoulpour M, Guillot A P, Ausiello D A

Abstract excerpt

Congenital nephrogenic diabetes insipidus (CNDI) is a rare X-linked disorder in which the renal collecting duct is unresponsive to arginine vasopressin, and thus, the urine is consistently hypotonic to plasma. As a result, affected individuals are unable to concentrate urine and suffer from episodes of severe dehydration and hypernatremia. Recently, the association between arginine vasopressin V2 receptor gene...

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PMID: 7993996
DOI: 10.1681/ASN.V52169

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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