Details

Autor(en) / Beteiligte

• Ochi, Ayami
• Takei, Takashi
• Ichikawa, Akiko
• Kojima, Chiari
• Moriyama, Takahito
• Itabashi, Mitsuyo
• Mochizuki, Toshio
• Taniguchi, Atsuo
• Nitta, Kosaku

Titel

A case of acute renal failure after exercise with renal hypouricemia demonstrated compound heterozygous mutations of uric acid transporter 1

Ist Teil von

• Clinical and experimental nephrology, 2012-04, Vol.16 (2), p.316-319

Ort / Verlag

Japan: Springer Japan

Erscheinungsjahr

2012

Quelle

MEDLINE

Beschreibungen/Notizen

• Familial renal hypouricemia is a hereditary disease characterized by extraordinary high renal uric acid (UA) clearance and is associated with acute renal failure (ARF). A 17-year-old Japanese male developed ARF after anerobic exercise. Renal function improved completely after approximately 2 weeks of hydration treatment. After remission, hypouricemia became evident (1.0 mg/dL) from the initial level of UA (4.8 mg/dL) and fractional excretion of uric acid (FEUA) was >50%. His parents showed normal levels of UA and FEUA. Polymerase chain reaction of a urate anion exchanger known to regulate UA level [ SLC22A12 gene: UA transporter 1 ( URAT1 )] demonstrated compound heterozygous mutations (Q297X and R90H). Thus, we describe a Japanese male with hypouricemia complicated by anerobic exercise-induced ARF, with definite demonstration of a genetic abnormality in the responsible gene, URAT1 .