Clinical and Experimental Pediatrics

대한소아청소년과학회 (The Korean Pediatric Society)
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신성 저요산혈증 1례

A case of idiopathic renal hypouricemia

  • 한문희 (성균관대학교 의과대학 강북삼성병원 소아과) ;
  • 박상욱 (성균관대학교 의과대학 강북삼성병원 소아과) ;
  • 김덕수 (성균관대학교 의과대학 강북삼성병원 소아과) ;
  • 심재원 (성균관대학교 의과대학 강북삼성병원 소아과) ;
  • 심정연 (성균관대학교 의과대학 강북삼성병원 소아과) ;
  • 정혜림 (성균관대학교 의과대학 강북삼성병원 소아과) ;
  • 박문수 (성균관대학교 의과대학 강북삼성병원 소아과)
  • Han, Moon Hee (Department of Pediatrics, Kangbuk Samsung Hospital, Sungkyunkwan University School of Medicine) ;
  • Park, Sang Uk (Department of Pediatrics, Kangbuk Samsung Hospital, Sungkyunkwan University School of Medicine) ;
  • Kim, Deok-Soo (Department of Pediatrics, Kangbuk Samsung Hospital, Sungkyunkwan) ;
  • Shim, Jae Won (Department of Pediatrics, Kangbuk Samsung Hospital, Sungkyunkwan University School of Medicine) ;
  • Shim, Jung Yeon (Department of Pediatrics, Kangbuk Samsung Hospital, Sungkyunkwan University School of Medicine) ;
  • Jung, Hye Lym (Department of Pediatrics, Kangbuk Samsung Hospital, Sungkyunkwan University School of Medicine) ;
  • Park, Moon Soo (Department of Pediatrics, Kangbuk Samsung Hospital, Sungkyunkwan University School of Medicine)
  • 투고 : 2007.03.21
  • 발행 : 2007.05.15
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초록

신성 저요산혈증은 신장에서 요산의 배설이 증가하는 것으로 무증상이거나 이차적으로 혈뇨, 요로결석, 신부전 등을 일으킬 수 있다. 저자들은 가성저알도스테론혈증으로 진단된 환아의 추적검사에서 추가적으로 신성 저요산혈증을 진단하고 환아 및 가족의 유전자검사를 통해 hURAT1 유전자의 R90H, W258X 이형접합자 변이를 확인하였기에 문헌고찰과 함께 보고하는 바이다.

Idiopathic renal hypouricemia is a disorder characterized by impaired urate handling in the renal tubules. This disease usually produces no symptoms, but hematuria, uric acid nephrolithiasis or acute renal failure may develop. A defect in the SLC22A12 gene, which encodes the human urate transporter, is the known major cause of this disorder. We describe a 10-month-old boy with idiopathic renal hypouricemia. He was diagnosed with transient pseudohypoaldosteronism at admission, but hypouricemia was accidentally found through follow-up study. By gene analysis, his diagnosis was confirmed to idiopathic renal hypouricemia. In addition, we report a mutation in the human urate transporter 1 (hURAT1) gene identified in his family.

키워드

참고문헌

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