ArticleKidney international reports2026
Genotype-Informed Characterization of Mild Renal Hypouricemia.
Article in Kidney international reports, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Introduction: Renal hypouricemia is caused by pathogenic variants in Methods: We analyzed probands referred for suspected renal hypouricemia, their relatives, and additional carriers not previously suspected of the condition. Genetic, biochemical, and clinical data were integrated to characterize SUA and FEUA distributions by genotype and to identify overlooked cases. Results: Among 21 probands, 15 carried pathogenic or likely pathogenic variants (71% diagnostic yield), including 3 variants not previously linked to renal hypouricemia. Monoallelic carriers frequently showed mild hypouricemia (SUA: 2-3.3 mg/dl), whereas biallelic carriers had SUA < 2 mg/dl. SUA and FEUA showed an allele-dose pattern, although FEUA availability was limited. Additional carriers identified outside renal hypouricemia suspicion had compatible biochemical profiles when data were available, suggesting underrecognition in clinical practice. Conclusion: In this referral-based cohort, monoallelic pathogenic or likely pathogenic variants in
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