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COL4A5-p.Gly624Asp is the Predominant Variant in Europe Associated With a Mild Alport Syndrome Phenotype

3 Mar 2025

Abstract excerpt

Introduction Pathogenic variants in COL4A3–5 are common causes of inherited kidney disease. The clinical presentation extends from classical Alport syndrome (AS) to focal segmental glomerulosclerosis (FSGS) without extrarenal manifestation. In this study, we aimed to assess the genetic and phenotypic spectrum, along with the associated natural histories, in a cohort of patients with AS from 3 tertiary centers in...

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PMID: 40485705
DOI: 10.1016/j.ekir.2025.02.031

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COL4A5-p.Gly624Asp is the Predominant Variant in Europe Associated With a Mild Alport Syndrome PhenotypePMID 40485705Read ↗

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