J Korean Soc Pediatr Nephrol.  2005 Oct;9(2):269-274.

A Case of Congenital Nephrogenic Diabetes Insipidus Diagnosed by DNA Analysis

• Kim JH
• Lee SJ
• Kim AS
• Cho SM
• Lee DS
• Kim DK
• Choi SM
• Ki CS
• Kim JW

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.

Keyword

Nephrogenic diabetes insipidus; Mutation; V2 vasopressin receptor; Fever; Failure to thrive; Infancy

MeSH Terms

Arginine
Diabetes Insipidus, Nephrogenic*
DNA*
Failure to Thrive
Fever
Humans
Male
Parturition
Plasma
Polydipsia
Polyuria
Arginine
DNA