Genetic Basis of the Epidemiological Features and Clinical Significance of Renal Hypouricemia
2022
Masayuki Hakoda | Kimiyoshi Ichida
A genetic defect in urate transporter 1 (URAT1) is the major cause of renal hypouricemia (RHUC). Although RHUC is detected using a serum uric acid (UA) concentration <2.0 mg/dL, the relationship between the genetic state of <i>URAT1</i> and serum UA concentration is not clear. Homozygosity and compound heterozygosity with respect to mutant <i>URAT1</i> alleles are associated with a serum UA concentration of <1.0 mg/dL and are present at a prevalence of ~0.1% in Japan. In heterozygous individuals, the prevalence of a serum UA of 1.1–2.0 mg/dL is much higher in women than in men. The frequency of mutant <i>URAT1</i> alleles is as high as 3% in the general Japanese population. The expansion of a specific mutant <i>URAT1</i> allele derived from a single mutant gene that occurred in ancient times is reflected in modern Japan at a high frequency. Similar findings were reported in Roma populations in Europe. These phenomena are thought to reflect the ancient migration history of each ethnic group (founder effects). Exercise-induced acute kidney injury (EI-AKI) is mostly observed in individuals with homozygous/compound heterozygous <i>URAT1</i> mutation, and laboratory experiments suggested that a high UA load on the renal tubules is a plausible mechanism for EI-AKI.
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