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Characterization of Egyptian cystic fibrosis children including genotypes and phenotypes: A single tertiary center experience.

Respiratory medicine - 1 Nov 2025

Fouda Eman Mahmoud, Nasr Samya Z, Hamza Heba M, Hana Sylvia Micheal, Ramadan Abeer, Ali Rahma Farghaly, Ishak Sally Raafat

Abstract excerpt

BACKGROUND: Cystic fibrosis (CF) is an autosomal recessive disease caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, presenting with a wide spectrum of phenotypic characteristics. CF diagnosis and management in Egypt are challenging due to limited awareness, diagnostic resources, and access to essential therapies. Our study aims to provide a comprehensive summary of...

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PMID: 41067292
DOI: 10.1016/j.rmed.2025.108411

Genes

CFTR

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