Prevalence and Genetic Risk Factors for Cystic Fibrosis Mutations Among Paediatric Patients at Lagos University Teaching Hospital

Cystic fibrosis (CF) is classically associated with Caucasian populations, leading to underdiagnosis in sub-Saharan Africa. However, emerging evidence suggests CF-causing mutations in the CFTR gene exist across diverse African populations, though at lower frequencies. This study screened for common CFTR mutations among paediatric patients with recurrent pulmonary infections and malabsorption symptoms at the Lagos University Teaching Hospital (LUTH), Lagos State. Forty-five paediatric patients aged one to fourteen years with clinical features suggestive of CF were enrolled, along with 45 healthy controls. Genomic DNA was extracted from buccal swabs, and targeted genotyping for the deltaF508 deletion and four additional common CFTR mutations was performed using multiplex PCR and gel electrophoresis. Sweat chloride tests were conducted as a complementary diagnostic tool. Two patients were confirmed as compound heterozygotes for CF-related mutations, while a larger subset carried a single mutation (CF carrier). No carriers were identified in the control group. Although CF prevalence appears low in this Nigerian cohort, these findings support inclusion of CFTR screening in the differential diagnosis for children with chronic pulmonary disease in Lagos. Keywords: cystic fibrosis, CFTR gene, paediatric patients, Lagos University Teaching Hospital, CFTR mutation