A Case of Congenital Nephrogenic Diabetes Insipidus Diagnosed by DNA Analysis

ABSTRACT

Nephrogenic diabetes insipidus(NDI) is characterized by an inability to concentrate urine despite normal or elevated plasma concentrations of the antidiuretic hormone; arginine vasopressin(AVP). Polyuria with hyposthenuria, and polydipsia are the cardinal clinical manifestations of the disease. Ninety percent of congenital nephrogenic diabetes insipidus patients are males with the X-linked recessive form of the disease; the mutation is in the AVP receptor 2 gene(AVPR2), which is located in chromosomal region Xq28. We report a case of NDI who suffered from unexplained fever and failure to thrive, which has been recognized since about 3 months after birth. His genomic DNA analysis identified a novel AVPR2 gene mutation as W200C.