Tracking early cystic fibrosis in the new era

Extract Cystic fibrosis (CF) is a rare multiorgan disorder inherited in an autosomal recessive pattern. The defect lies in mutations in the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR), an anion transport channel of the apical membrane of epithelial cells apparent in various tissues and organs 1. Proper CFTR function is essential for the hydration of epithelial surfaces and the regulation of homeostasis. Therefore, the clinical phenotype of CF includes symptoms and signs from the upper and lower airways such as sinopulmonary disease and bronchiectasis, failure to thrive, exocrine pancreatic insufficiency, diabetes, liver disorders, as well as fertility problems in various degrees 2.