Childhood Kidney Diseases

Korean Society of Pediatric Nephrology (대한소아신장학회)
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A Case of Congenital Nephrogenic Diabetes Insipidus Diagnosed by DNA Analysis

유전자 검사를 통해 진단한 선천성 신성 요붕증 1례

  • Kim Ji Hyun (Department of Pediatrics, College of Medicine Dongguk University) ;
  • Lee Sun Ju (Department of Pediatrics, College of Medicine Dongguk University) ;
  • Kim Ae Suk (Department of Pediatrics, College of Medicine Dongguk University) ;
  • Cho Sung Min (Department of Pediatrics, College of Medicine Dongguk University) ;
  • Lee Dong Seok (Department of Pediatrics, College of Medicine Dongguk University) ;
  • Kim Doo Kwun (Department of Pediatrics, College of Medicine Dongguk University) ;
  • Choi Sung Min (Department of Pediatrics, College of Medicine Dongguk University) ;
  • Ki Chang Seok (Department of Laboratory Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Kim Jong Won (Department of Laboratory Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine)
  • 김지현 (동국대학교 의과대학 소아과학교실) ;
  • 이선주 (동국대학교 의과대학 소아과학교실) ;
  • 김애숙 (동국대학교 의과대학 소아과학교실) ;
  • 조성민 (동국대학교 의과대학 소아과학교실) ;
  • 이동석 (동국대학교 의과대학 소아과학교실) ;
  • 김두권 (동국대학교 의과대학 소아과학교실) ;
  • 최성민 (동국대학교 의과대학 소아과학교실) ;
  • 기창석 (성균관대학교 의과대학 진단검사의학교실) ;
  • 김종원 (성균관대학교 의과대학 진단검사의학교실)
  • Published : 2005.11.01
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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)

저자들은 불규칙한 발열은 주소로 내원한 5개월 된 어린 영아에서 유전자 검사를 통하여 선천성 신성 요붕증을 조기 확진하였으며 thiazide 치료에 반응을 보였기에 문헌고찰과 함께 보고하는 바이다.

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