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Diabetes insipidus
1Department of Medicine, McGill University, Montreal, Canada.
Bailliere'S Clinical Endocrinology and Metabolism
|July 1, 1995
Abstract:
The advances in our understanding of the pathophysiology of defects in the antidiuretic hormone, the V2 receptor and the water channel, owing to mutations in the prepro-AVP-NPII, AVPR2 and AQP2 genes respectively, is providing insight into inherited diabetes insipidus as well as the more numerous sporadic cases. Further structure-function analyses of these mutated genes will increase our understanding of normal vasopressin-regulated water transport across the kidney epithelium at the molecular level.