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Slowly progressive autosomal dominant Alport Syndrome due to COL4A3 splicing variant

19 Oct 2024

Abstract excerpt

Alport syndrome is a rare genetic kidney disease caused by variants in the COL4A3/A4/A5 genes. It's characterised by progressive kidney failure, though therapies targeting Renin-Angiotensin System can delay its progression. Additionally, extrarenal manifestations may sometimes coexist. Recent advances in genetic analysis and the necessity to better clarify genotype-phenotype correlations in affected patients...

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PMID: 39424670
DOI: 10.1038/s41431-024-01706-8

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