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Genetic study of Alport syndrome in Tunisia.

Pediatric nephrology (Berlin, Germany) - 1 Jan 2025

Younsi Mariem El, Achour Ahlem, Kraoua Lilia, Nesrine Mezzi, Sayari Taha, Abderrahim Ezzeddine, Laabidi Janet, Zouaghi Mohamed Karim, Kharrat Maher, Gargah Tahar, Trabelsi Mediha, M'rad Ridha

Abstract excerpt

BACKGROUND: Alport syndrome is a genetic disorder affecting the kidneys, ears, and eyes, causing chronic kidney disease, sensorineural hearing loss, and ocular abnormalities. It results from pathogenic variants in the COL4A3, COL4A4, or COL4A5 genes, with different inheritance patterns: X-linked from COL4A5 variants, autosomal recessive from homozygous variants in COL4A3 or COL4A4, digenic from variants in both...

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PMID: 39138691
DOI: 10.1007/s00467-024-06474-7

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