A Case of Congenital Nephrogenic Diabetes Insipidus Diagnosed by DNA Analysis.
- Author:
Ji Hyun KIM
1
;
Sun Ju LEE
;
Ae Suk KIM
;
Sung Min CHO
;
Dong Seok LEE
;
Doo Kwun KIM
;
Sung Min CHOI
;
Chang Seok KI
;
Jong Won KIM
Author Information
1. Department of Pediatrics, College of Medicine Dongguk University, Kyongju, Korea. pedepi@medimail.co.kr
- Publication Type:Case Report
- Keywords:
Nephrogenic diabetes insipidus;
Mutation;
V2 vasopressin receptor;
Fever;
Failure to thrive;
Infancy
- MeSH:
Arginine;
Diabetes Insipidus, Nephrogenic*;
DNA*;
Failure to Thrive;
Fever;
Humans;
Male;
Parturition;
Plasma;
Polydipsia;
Polyuria
- From:Journal of the Korean Society of Pediatric Nephrology
2005;9(2):269-274
- CountryRepublic of Korea
- Language:Korean
-
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.
