Case Report: A Nigerian Child with a diagnosis of cystic fibrosis -Review of literature and challenges with management in a resource-limited setting

Abstract

Cystic fibrosis, an autosomal recessive disease that arises from a defective cystic fibrosis transmembrane conductance regulator (CFTR) protein is not a common genetically inherited condition recognized among people of non-Caucasian or African descent and is sparsely reported in the literature from sub-Sahara Africa. The presentation of Cystic fibrosis in a Nigerian child with no history of parental consanguinity or foreign ancestry has not been reported. Herein, we report a case of a 4-year-old Nigerian male who presented with classical clinical features of Cystic fibrosis that was confirmed following genetic testing and also highlights challenges with management in a resource-limited setting.