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SCL22A12 유전자의 R90H 돌연변이를 동반한 신성 저요산혈증과 반복적인 운동유발성 급성 신부전 1예A Case of Recurrent Exercise-Induced Acute Renal Failure and Renal Hypouricemia with R90H Mutation in a SCL22A12 Gene
- Other Titles
- A Case of Recurrent Exercise-Induced Acute Renal Failure and Renal Hypouricemia with R90H Mutation in a SCL22A12 Gene
- Issue Date
- Dec-2012
- Publisher
- 영남대학교 의과대학
- Keywords
- Acute kidney injury; Renal hypouricemia; Genetic analysis
- Citation
- Yeungnam University Journal of Medicine, v.29, no.2, pp.150 - 152
- Journal Title
- Yeungnam University Journal of Medicine
- Volume
- 29
- Number
- 2
- Start Page
- 150
- End Page
- 152
- ISSN
- 2384-0293
- Abstract
- 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.
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