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Detection of Alport gene variants in children and young people with persistent haematuria

1 Oct 2024

Abstract excerpt

BACKGROUND: Genetic kidney disease is an important cause of persistent microscopic haematuria in children and young people. We aimed to determine the frequency of variants in the Alport syndrome genes (COL4A3, COL4A4 or COL4A5) in individuals under 18 years of age presenting with persistent microscopic haematuria to a single specialist centre in the UK over a 10-year period. METHODS: We conducted a retrospective...

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PMID: 39349776
DOI: 10.1007/s00467-024-06538-8

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