A case of severe acute renal failure with severe loin pain and patchy renal ischemia after anaerobic exercise in a patient with hypouricemia and mutation in the gene encoding uric acid transporter 1

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  • Araki Hisazumi
    Department of Nephrology, Hemodialysis Center, Kusatsu General Hospital
  • Takaya Kiho
    Department of Nephrology, Hemodialysis Center, Kusatsu General Hospital

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Other Title
  • 重篤な運動後急性腎不全（ＡＬＰＥ）を起こした，ＵＲＡＴ１遺伝子変異の１例
  • 症例報告 重篤な運動後急性腎不全(ALPE)を起こした,URAT1遺伝子変異の1例
  • ショウレイ ホウコク ジュウトク ナ ウンドウ ゴ キュウセイ ジンフゼン ALPE オ オコシタ URAT1 イデンシ ヘンイ ノ 1レイ

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Abstract

We report a case of acute renal failure with severe loin pain and patchy renal ischemia after anaerobic exercise (ALPE) in a patient with hypouricemia and mutation in the gene encoding uric acid transporter 1 (URAT1). The patient was a 23-year-old man who experienced general malaise, severe nausea and vomiting on July 23, 2008, several hours after participating in a 200-m dash at a neighborhood athletic meeting. He consulted a local doctor, and a drip infusion was administered, but his symptoms did not improve. He was admitted to our hospital the next day, with nausea, vomiting, and renal failure. The patient's serum urea nitrogen and creatinine levels were 23.2mg/dL and 2.4mg/dL, respectively. However, his serum uric acid level was 5.2mg/dL, that is within the normal range. His renal function rapidly deteriorated and hemodialysis was performed. Whole-body bone scintigrams with 99m technetium methylene diphosphonate (99mTc-MDP) demonstrated multiple patchy increased accumulations of the isotope in the kidney. The patient completely recoverd 20 days after admission. Subsequently, his serum uric acid level decreased to a very low level of 1.1mg/dL. In contrast, the fractional excretion of uric acid (FEUA) was 56%. Therefore, we made a diagnosis of ALPE in a patient with hypouricemia. Genetic testing was performed for mutations in URAT1, and the results demonstrated that the patient was a compound heterozygote for W258X/R90H. A previous study reported that 10% of patients with mutation in the gene encoding URAT1 had a history of ALPE or urolithiasis ; moreover, hemodialysis was required in 21% of the patients with ALPE in that series. This is a rare case where hemodialysis was performed for a patient with mutation in the gene encoding URAT1. Whole-body bone scintigrams with 99mTc-MDP may be useful in providing theoretical evidence suggesting ALPE.

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