Alport syndrome: a genetically confirmed x-linked case with early family screening.

Le résumé fourni par la source

Alport syndrome (AS) is an inherited disorder of the glomerular basement membrane (GBM) resulting from pathogenic variants in the COL4A3, COL4A4, or COL4A5 genes, which encode the α3, α4, and α5 chains of type IV collagen, the main structural component of the GBM, cochlea, and lens capsule.Defects in this collagen network lead to progressive renal insufficiency, hearing impairment, and characteristic ocular lesions such as anterior lenticonus and retinal flecks.(1).AS affects approximately 1 in 50 000 live births.The disease is classically inherited in an X-linked pattern (85%), followed by autosomal recessive (15%) and autosomal dominant (< 1%) forms.The severity and age at onset vary depending on the mutation type and zygosity, with males with truncating COL4A5 variants typically progressing faster to end-stage kidney disease (ESKD).( 2)

Ce résumé expose les affirmations des auteurs. BNTIC ne l’interprète pas comme une validation indépendante des résultats.