Journal of Yeungnam Medical Science
- 제29권2호
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- Pages.150-152
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- 2012
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- 2799-8010(eISSN)
SCL22A12 유전자의 R90H 돌연변이를 동반한 신성 저요산혈증과 반복적인 운동유발성 급성 신부전 1예
A Case of Recurrent Exercise-Induced Acute Renal Failure and Renal Hypouricemia with R90H Mutation in a SCL22A12 Gene
- 김애진 (가천의과대학교 길병원 내과) ;
- 박수용 (가천의과대학교 길병원 내과) ;
-
정지용
(가천의과대학교 길병원 내과)
;
- 장제현 (가천의과대학교 길병원 내과) ;
- 이현희 (가천의과대학교 길병원 내과) ;
- 정우경 (가천의과대학교 길병원 내과) ;
- 노한 (가천의과대학교 길병원 내과)
- Kim, Ae Jin (Department of Internal Medicine, Gachon Unniversity Gil Medical Center, Gachon University of Medicine and Science) ;
- Park, Soo Yong (Department of Internal Medicine, Gachon Unniversity Gil Medical Center, Gachon University of Medicine and Science) ;
-
Jung, Ji Yong
(Department of Internal Medicine, Gachon Unniversity Gil Medical Center, Gachon University of Medicine and Science)
;
- Chang, Jae Hyun (Department of Internal Medicine, Gachon Unniversity Gil Medical Center, Gachon University of Medicine and Science) ;
- Lee, Hyun Hee (Department of Internal Medicine, Gachon Unniversity Gil Medical Center, Gachon University of Medicine and Science) ;
- Chung, Wook Yung (Department of Internal Medicine, Gachon Unniversity Gil Medical Center, Gachon University of Medicine and Science) ;
- Ro, Han (Department of Internal Medicine, Gachon Unniversity Gil Medical Center, Gachon University of Medicine and Science)
- 투고 : 2012.09.03
- 심사 : 2012.10.05
- 발행 : 2012.12.31
초록
Acute renal failure with severe loin pain and patch renal ischemia after anaerobic exercise (ALPE) is a rare cause of exercise-induced acute kidney injury. Some ALPE patients also have renal hypouricemia. Mutations in the SCL22A12 gene are among the major factors of hypouricemia. Education for the prevention of relapse and genetic counseling should be recommended to ALPE patients with renal hypouricemia. This paper reports a 25-year-old man who showed recurrent exercise-induced ARF and renal hypouricemia with R90H mutation in his SCL22A12 gene.