A Molecular Defect in the Vasopressin V2-Receptor Gene Causing Nephrogenic Diabetes Insipidus

Eliezer J. Holtzman, H. William Harris, Lee F. Kolakowski, Lisa M. Guay-Woodford, Barbara Botelho, Dennis A. Ausiello

Research output: Contribution to journalArticlepeer-review

Abstract

Fundamental to the maintenance of water balance in humans is the rate at which the kidneys excrete free water, which is primarily regulated by arginine vasopressin. The antidiuretic action of arginine vasopressin requires the binding of the hormone to the renal-type (V2) vasopressin receptor, which results in the activation of adenylate cyclase, the generation of cyclic AMP (cAMP), and increased reabsorption of water across the apical membrane of the cells of the renal collecting duct1. Congenital nephrogenic diabetes insipidus is a rare hereditary disorder in which renal responsiveness to arginine vasopressin is impaired. In some families, the disorder is…

Original languageEnglish
Pages (from-to)1534-1537
Number of pages4
JournalNew England Journal of Medicine
Volume328
Issue number21
DOIs
StatePublished - 27 May 1993
Externally publishedYes

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