Childhood Kidney Diseases

  • 제9권2호
  • /
  • Pages.269-274
  • /
  • 2005
  • /
  • 2384-0242(pISSN)
  • /
  • 2384-0250(eISSN)
대한소아신장학회 (Korean Society of Pediatric Nephrology)
권호 표지

유전자 검사를 통해 진단한 선천성 신성 요붕증 1례

A Case of Congenital Nephrogenic Diabetes Insipidus Diagnosed by DNA Analysis

  • 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)
  • 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)
  • 발행 : 2005.11.01
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초록

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.

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)

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