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Journal of the Korean Society of Pediatric Nephrology 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
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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)
Key words: Nephrogenic diabetes insipidus | Mutation | V2 vasopressin receptor | Fever | Failure to thrive | Infancy
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