A case of renal hypouricemia and a G774A gene mutation causing acute renal injury that was improved by hemodialysis

被引：0
作者：
Shuma Hirashio
Kyoko Yamada
Takayuki Naito
Takao Masaki
机构：
[1] Hiroshima University Hospital,Department of Nephrology
[2] National Hospital Organization Kure Medical Center and Chugoku Cancer Center,Department of Nephrology
[3] Hiroshima Prefectural Hospital,Department of Nephrology
来源：
CEN Case Reports | 2012年 / 1卷 / 1期
关键词：
Renal hypouricemia; Urate transporter 1 (URAT1); Gene mutation (SLC22A12, G774A); Acute renal failure with severe loin pain and patchy renal ischemia after anaerobic exercise (ALPE);
D O I：
10.1007/s13730-012-0007-4
中图分类号：
学科分类号：
摘要：
A 16-year-old man came to our hospital complaining of loin pain after a middle-distance race. Following admission, his renal dysfunction worsened rapidly, requiring several hemodialysis sessions. A renal biopsy showed no change in the glomeruli, although interstitial edema was observed. Following the recovery of renal function, we confirmed that his uric acid level was abnormally low and urate clearance was abnormality high. Gene analysis showed that he had a G774A mutation which dominated the SLC22A12 gene encoding the urate transporter 1.
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页码：24 / 28
页数：4
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