Don't judge a book by its cover: the emerging challenge of diagnosing CF in non-Caucasians

Ethnic differences in cystic fibrosis (CF) genotype and phenotype are increasingly being recognized. It can be challenging to state with confidence the disease liability of rare genetic mutations; however, the development of large international CF databases and genetic registries have provided essential information on the clinical impact of various mutations found in the cystic fibrosis transmembrane conductance regulator (CFTR). Genetic admixture challenges our previous thinking that CF primarily affects the Caucasian population and typically manifests with malabsorption due to pancreatic insufficiency, chronic rhinosinusitis, bronchiectasis and infertility.
Source: Journal of Cystic Fibrosis - Category: Respiratory Medicine Authors: Tags: Editorial Source Type: research