Nephrogenic diabetes insipidus due to a novel AVPR2 mutation.
2009
Congenital nephrogenic diabetes insipidus (CNDI) is a rare inherited disease characterized by renal tubular unresponsiveness to the anti-diuretic effect of arginine-vasopressin due to the mutations of two molecules, the vasopressin V2 receptor (AVPR2) and the aquasporin-2 water channel. We report a novel AVPR2 mutation in a Turkish 18 month-old boy with skeletal anomalies.
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