Departmental Bulletin Paper 〈Case Reports〉A patient with renal hypouricemia and acute renal failure after exercise in whom URAT1 gene mutation was demonstrated

Enya, Takuji  ,  Sugimoto, Keisuke  ,  Miyazawa, Tomoki  ,  Nishi, Hitomi  ,  Miyazaki, Kohei  ,  Okada, Mitsuru  ,  Takemura, Tsukasa

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〈Abstract〉Patients with the disease entity termed acute renal failure with severe loin pain and patchy renal ischemia after anaerobic exercise (ALPE) manifests non-oliguric renal failure, usually accompanied by few urinary abnormalities such as hematuria and proteinuria. This condition, diagnosed by the demonstration of hypouricemia in addition to these features, usually responds well to conservative treatment. However, differentiation from other renal disorders occasionally proves difficult, which can lead to unnecessary steroid administration and renal biopsy. In the patient reported here, acute glomerulonephritis (AGN) was initially suspected based on his course and urinalysis findings, although typical AGN symptoms such as oliguria, edema, and hypertension were absent. After the detection of hypouricemia, renal hypouricemia was added to the clinical picture. URAT1 gene mutation (W258X, homozygote) was demonstrated by gene analysis. The patient's mother was heterozygous for mutation at the same site.
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