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
-
Obstructive azoospermia
or
Continue reading “Diagnostic Criteria for Cystic Fibrosis (CF)”
