ArticleClinical kidney journal2026
Heterozygous COL4A3/COL4A4 variants: diagnostic trends and clinical kidney outcomes.
Article in Clinical kidney journal, 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
Background: Heterozygous pathogenic variants in Methods: This retrospective cohort study involved 992 families genetically diagnosed with Alport syndrome at a single centre in Japan between 2006 and 2023. We identified 265 families comprising 299 haematuria-positive individuals with heterozygous pathogenic or likely pathogenic Results: At the family level, the proportion of the study group increased from 8.4% of genetically diagnosed Alport syndrome cases during the Sanger sequencing era (2006-2015) to 26.6% during early next-generation sequencing implementation (2015-2019), and 39.1% in the recent period (2020-2023). At genetic diagnosis, 75.3% of individuals had proteinuria and 4.7% had KF. Kaplan-Meier analysis showed that the median ages at first detection of haematuria and proteinuria, and at onset of KF, were 10, 26, and 72 years, respectively. Conclusions: Individuals with haematuria and heterozygous
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