Cystic Fibrosis in Egypt

Published data on cystic fibrosis (CF) among Egyptian people with cystic fibrosis (pwCF) are limited, and most previous reports have been from single centers. This study describes the demographic, clinical, and CFTR variant characteristics of a large multicenter cohort of Egyptian pwCF.

We conducted a multicenter retrospective descriptive cohort study including pwCF treated at seven Egyptian university children's hospitals from 2020 through 2024. Eligible participants had clinical features consistent with CF and positive sweat chloride testing. Demographic, clinical, sweat chloride, and genetic testing data were collected from medical records. All participants underwent limited CFTR variant testing; participants with one or no identified variants were eligible for additional CFTR sequencing when available.

A total of 475 Egyptian pwCF were included. Participants were recruited from Cairo University, Ain Shams University, Zagazig University, Mansoura University, Tanta University, Alexandria University, and Assiut University. Among the cohort, 175 participants had two identified CFTR variants, 32 had one identified variant, and 268 had no variant identified on available testing. F508del was the most frequent variant, followed by N1303K. Nine novel CFTR variants were identified.

This multicenter retrospective cohort study represents one of the largest reported cohorts of Egyptian pwCF. The findings highlight the genetic heterogeneity of CF in Egypt and support the development of an Egyptian CFTR variant panel, expanded access to comprehensive genetic testing, and broader implementation of newborn screening.