Cystic Fibrosis in Egyptian Children: Achievements and Future Directions

Cystic fibrosis (CF) is the most common potentially lethal and life-shortening genetic disease caused by mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Clinical consequences of the CFTR defect are site-specific and range from severe (lungs, pancreas, male reproductive tract) to mild (intestine) to asymptomatic (sweat glands). In many developing countries CF has remained largely unrecognized, and inadequately treated, resulting in avoidable death or suffering in infancy, childhood, and adulthood. Delivering adequate CF services is met by substantial difficulties as the spectrum and distribution of CF in Egypt are still not well known. Against this background, the aim of this work is to emphasize the challenges facing initiation of a CF center in low privileged settings with the objectives of improving diagnosis, survival and to eventually determine the prevalence. Strategies for the implementation and development of CF services as well as proper collection and documentation of patient data are therefore of vital importance. Characterization of the molecular genetics of CF in Egypt is of utmost importance so that appropriate genetic counseling to CF patients and their families can be achieved and to pave the way for the use of the newly developed CFTR modulators.