A Case of Autosomal Dominant Nephrogenic Diabetes Insipidus with Renal Failure / 대한신장학회잡지

ABSTRACT

Congenital nephrogenic diabetes insipidus (NDI) is a rare inherited disorder. The X-linked recessive NDI, most of congenital DI (>90%), has been known to be caused by mutation of the AVPR2 gene. Less than 10% of congenital NDI has an autosomal recessive inheritance and mutations of the AQP2 gene. Although several adult cases of congenital NDI were reported in Korea, all of them had an X-linked recessive inheritance and no azotemia. We have experienced a case of autosomal dominant NDI with renal failure. A 38-year-old man was admitted due to polyuria and polydipsia. In his family, his grandfather, father, three sisters and nieces showed similar symptoms. On admission, serum creatinine level was 4.9 mg/dL and creatinine clearance decreased to 19.9 mL/min. On ultrasonography, both kidneys showed severe hydronephrosis. We performed water deprivation and vasopressin stimulation test, and the result was consistent with NDI. On gene mutational analysis of the two different genes, AVPR2 and AQP2, no specific mutations were found except polymorphism.