A MOLECULAR DEFECT IN THE VASOPRESSIN V2-RECEPTOR GENE CAUSING NEPHROGENIC DIABETES-INSIPIDUS

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… © 1993, Massachusetts Medical Society. All rights reserved.