ReviewBiomedicines2022
Genetic Basis of the Epidemiological Features and Clinical Significance of Renal Hypouricemia.
Review in Biomedicines, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
12 citing papers in PubMed, 12 citations in OpenAlex.
- Gene-environment interaction modifies the association between hyperinsulinemia and serum urate levels through SLC22A12.The Journal of clinical investigation · 2025Trial
- A case of renal hypouricemia type 1 associated with compound heterozygous URAT1/SLC22A12 variants A209V and F379L: clinical evidence for their pathogenic significance.CEN case reports · 2026Article
- Genotype-Informed Characterization of Mild Renal Hypouricemia.Kidney international reports · 2026Article
- Depletion of Uric Acid by Continuous Kidney Replacement Therapy.Blood purification · 2026Article
- The pathogenesis of gout: molecular insights from genetic, epigenomic and transcriptomic studies.Nature reviews. Rheumatology · 2024Review
- Ethanol Extracts fromFoods (Basel, Switzerland) · 2024Article
- Renal hypouricemia complicated with kidney stone: a case report.Frontiers in medicine · 2024Article
- NewGenes · 2023Article
- Pathogenic Variants ofInternational journal of molecular sciences · 2023Article
- Dysuricemia-A New Concept Encompassing Hyperuricemia and Hypouricemia.Biomedicines · 2023Review
- Metabolomic Footprint of Disrupted Energetics and Amino Acid Metabolism in Neurodegenerative Diseases: Perspectives for Early Diagnosis and Monitoring of Therapy.Metabolites · 2023Review
- Hyperuricemia and Endothelial Function: Is It a Simple Association or Do Gender Differences Play a Role in This Binomial?Biomedicines · 2022Review
Corrections and comments
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Authors and funding
2 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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 URAT1 and serum UA concentration is not clear. Homozygosity and compound heterozygosity with respect to mutant URAT1 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 URAT1 alleles is as high as 3% in the general Japanese population. The expansion of a specific mutant URAT1 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 URAT1 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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