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

Introduction: Alport syndrome (AS) is a hereditary nephropathy caused by pathogenic variants in the type IV collagen genes (COL4A3, COL4A4, or COL4A5), leading to structural defects in the glomerular basement membrane, cochlea, and eye. The disease classically presents with hematuria, proteinuri...

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Principais autores: Sonia Yasmine KIRANE, Lahlou HADDAD, Wassila MESSADI, Amina SARI, Ourida GACEM
Format: Artigo
Sprog:Árabe
Udgivet: Algerian Society of Clinical & Oncological Pharmacy 2026-06-01
Serier:Batna Journal of Medical Sciences
Fag:
alport syndrome
col4a5
hematuria
proteinuria
pediatric nephrology
genetic diagnosis
family screening
Online adgang:https://batnajms.net/wp-content/uploads/Archives/2026/06/BJMS_Kirane.pdf
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