Mechanism and Regulation of Water Transport

Kidney International (1996) 49, 1706–1711; doi:10.1038/ki.1996.252

Vasopressin receptors in health and disease

Daniel G Bichet1

1Department of Medicine, Université de Montréal, Centre de recherche, Hôpital du Sacré-Coeur de Montréal, Montréal, Québec, Canada

Correspondence: Dr Daniel G Bichet, Centre de recherche, Hôpital du Sacré-Coeur de Montréal, 5400, boul. Gouin ouest, Montréal, Québec, Canada H4J 1C5.

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Abstract

Vasopressin receptors in health and disease. The molecular cloning and characterization of receptors for the nonapeptide hormone family vasopressin-oxytocin was rapidly followed by the identification of mutations in the V2 receptor gene segregating with the clinical phenotype in more than a hundred families with X-linked nephrogenic diabetes insipidus. Together with the recent cloning of the vasopressin-regulated water channel in the apical membrane of the collecting duct tubule and of the identification of rare autosomal recessive nephrogenic diabetes insipidus patients with mutations in the AQP2 gene, these developments enable carrier detection and early diagnosis of infants with congenital nephrogenic diabetes insipidus.

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