Identification of a novel X-linked arginine-vasopressin receptor 2 mutation in nephrogenic diabetes insipidus: Case report and pedigree analysis.

Introduction: The clinical and genetic characteristics of nephrogenic diabetes insipidus (NDI) were described via assessing 2 cases of NDI patients from a Chinese family.

Patient Concerns: Two patients who manifest polyuria and polydipsia were admitted to hospital for definite diagnosis.

Diagnosis: Water deprivation-vasopressin tests showed that the patients may possess renal-origin diabetes insipidus.