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Molecular analysis of X-linked nephrogenic diabetes insipidus

In congenital nephrogenic diabetes insipidus, the renal collecting ducts are resistant to the antidiuretic action of arginine-vasopressin, or to its antidiuretic analog dDAVP (1, 2). This is a rare, but now well described entity secondary to either mutations in the AVPR2 gene that codes for the vasopressin antidiuretic (V₂) receptor or to mutations in the AQP2 gene that codes for the vasopressin-dependent water channel (3, 4). Of 75 families with congenital nephrogenic diabetes insipidus referred to our laboratory in Montreal, 71 families have AVPR2 mutations and four have AQP2 mutations. The AVPR2 gene is located in chromosome region Xq28 and as a consequence males who have an AVPR2 mutation have a phenotype characterized by early dehydration episodes, hypernatremia and hyperthermia as early as the first week of life. The dehydration episodes can be so severe that they lower arterial blood perfusion pressure to a degree that is not sufficient