A Case of Congenital Nephrogenic Diabetes Insipidus Diagnosed by DNA Analysis

Kim, Ji Hyun; Lee, Sun Ju; Kim, Ae Suk; Cho, Sung Min; Lee, Dong Seok; Kim, Doo Kwun; Choi, Sung Min; Ki, Chang Seok; Kim, Jong Won

J Korean Soc Pediatr Nephrol > Volume 9(2); 2005 > Article

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

유전자 검사를 통해 진단한 선천성 신성 요붕증 1례

김지현, 이선주, 김애숙, 조성민, 이동석, 김두권, 최성민, 기창석, 김종원

¹동국대학교 의과대학 소아과학교실
²동국대학교 의과대학 소아과학교실
³동국대학교 의과대학 소아과학교실
⁴동국대학교 의과대학 소아과학교실
⁵동국대학교 의과대학 소아과학교실
⁶동국대학교 의과대학 소아과학교실
⁷동국대학교 의과대학 소아과학교실
⁸성균관대학교 의과대학 진단검사의학교실
⁹성균관대학교 의과대학 진단검사의학교실

A Case of Congenital Nephrogenic Diabetes Insipidus Diagnosed by DNA Analysis

Ji Hyun Kim, Sun Ju Lee, Ae Suk Kim, Sung Min Cho, Dong Seok Lee, Doo Kwun Kim, Sung Min Choi, Chang Seok Ki, Jong Won Kim

¹Department of Pediatrics, College of Medicine Dongguk University
²Department of Pediatrics, College of Medicine Dongguk University
³Department of Pediatrics, College of Medicine Dongguk University
⁴Department of Pediatrics, College of Medicine Dongguk University
⁵Department of Pediatrics, College of Medicine Dongguk University
⁶Department of Pediatrics, College of Medicine Dongguk University
⁷Department of Pediatrics, College of Medicine Dongguk University
⁸Department of Laboratory Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine
⁹Department of Laboratory Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine

ABSTRACT

Nephrogenic diabetes insipidus(NBI) 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. (J Korean Soc Pediatr Nephrol 2005;9:269-274)