A case of acute renal failure after exercise with renal hypouricemia demonstrated compound heterozygous mutations of uric acid transporter 1
| Autor: | Ayami Ochi, Atsuo Taniguchi, Toshio Mochizuki, Takashi Takei, Akiko Ichikawa, Mitsuyo Itabashi, Takahito Moriyama, Chiari Kojima, Kosaku Nitta |
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| Rok vydání: | 2011 |
| Předmět: |
Male
Nephrology medicine.medical_specialty Renal Tubular Transport Inborn Errors Adolescent Organic Cation Transport Proteins Physiology Organic Anion Transporters Renal function medicine.disease_cause Compound heterozygosity Excretion chemistry.chemical_compound Physiology (medical) Internal medicine medicine Humans Hypouricemia Exercise Mutation biology business.industry Acute Kidney Injury medicine.disease Uric Acid Endocrinology chemistry biology.protein Uric acid Urinary Calculi SLC22A12 business |
| Zdroj: | Clinical and Experimental Nephrology. 16:316-319 |
| ISSN: | 1437-7799 1342-1751 |
| DOI: | 10.1007/s10157-011-0557-3 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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