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

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 Egyptian children with CF (cwCF) managed at our tertiary CF center and to outline future directions for developing national management guidelines and quality improvement initiatives to enhance CF care in Egypt.

METHODS: A cross-sectional study was conducted on 31 children with CF. Data collected included demographic information, clinical presentations, genetic mutations, laboratory findings, and pulmonary function testing. Disease severity was evaluated using the Schwachman-Kulczycki score, Bhalla scoring, and spirometry. Nutritional status was assessed using anthropometric measurements.

RESULTS: The median age of CF diagnosis was 1 year, and symptoms started at 3 months of age, indicating delayed diagnosis. High rates of consanguinity (54.84 %) and sibling affliction (41.94 %) were observed. Pseudomonas aeruginosa and methicillin-resistant Staphylococcus aureus (MRSA) were isolated in 41.94 % and 29.03 % of patients, respectively. Genetic testing revealed that 71 % of mutations were Class II, and the Delta F508 mutation was detected in 35.5 % of cases. 59 % of patients were underweight and 65 % stunted. Pulmonary function tests showed restrictive and mixed lung disease patterns (50 %). Four novel CFTR mutations were identified.

CONCLUSION: This study highlights the early onset, delayed diagnosis, and severe clinical burden of CF in Egyptian children.