Cystic Fibrosis (CF) is a multisystem disorder caused by mutations in the gene for the CF transmembrane conductance regulator (CFTR), which encodes an ion channel protein, with more than 2000 mutations identified to date. A diagnosis of CF initially relied on phenotype, with clinical recognition of characteristic signs and symptoms. Continue reading
The diagnosis of cystic fibrosis is based on clinical signs and symptoms consistent with the disease and objective evidence of cystic fibrosis transmembrane conductance regulator (CFTR) dysfunction.
One or more typical phenotypic features of CF:
Chronic sinopulmonary disease
Characteristic gastrointestinal and nutritional abnormalities
Salt loss syndromes