Although there is relatively much information available about cystic fibrosis (CF) status in various countries around the world, very few studies have examined the epidemiological aspects of the disease in low-to middle-income Arab countries. Here, we aimed to describe the clinico-epidemiological characteristics of pediatric CF cases in Egypt, including the genotype spectrum and disease outcomes, to support the establishment of a national CF patient registry.

This observational study included 120 pediatric patients with a clinical diagnosis of CF recruited from a single CF center between January 2022 and December 2024. Demographic, clinical, and genotyping characteristics were analyzed. Disease severity was assessed using the Shwachman-Kulczycki score. Spearman's correlation coefficient was used to identify the most important predictors of severe disease.

Males represented 50.8 % of the study population. The median age of the patients was 6.55 years. Cough (95 %), purulent sputum (92.1 %), and failure to thrive (58.3 %) were the predominant symptoms. The most commonly identified mutation was p. Phe508del (30 %). A substantial portion of patients (60.00 %) were eligible for at least one of the available CFTR modulator therapies. Severe disease was significantly associated with a low body mass index (P = 0.034) and poor lung function (P = 0.027).

Interventions targeting nutrition and respiratory therapy are needed to improve CF outcomes in our study population. Moreover, CF patient registries are crucial in Arabic populations as they may be essential for optimizing clinical care provided to CF patients, allowing the vast majority to benefit from highly effective CFTR modulator therapy.