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Identification, characterization and rescue of a novel vasopressin‐2 receptor mutation causing nephrogenic diabetes insipidus

Objective  X‐linked nephrogenic diabetes insipidus (XNDI), caused by mutations in the V2 vasopressin receptor (V2R), is clinically distinguished from central diabetes insipidus (CDI) by elevated serum vasopressin (AVP) levels and unresponsiveness to 1‐desamino‐8‐d‐arginine vasopressin (DDAVP). We report two infants with XNDI, and present the characterization and functional rescue of a novel V2R mutation.