title: Making the diagnosis of cystic fibrosis.
abstract: Since the discovery of the gene associated with cystic fibrosis (CF), there have been considerable advances in our understanding of the mechanisms of disease. Although we are identifying patients with milder manifestations of disease, there are a number of patients who are not diagnosed until adulthood. There is a movement for earlier intervention, so there is increasing interest in making the diagnosis of CF in the asymptomatic patient. With more sophisticated testing, we are able to make the diagnosis in the newborn or even the fetus. In this report, we discuss our current approach to making a diagnosis of CF.
authors.affiliation: Department of Pediatrics, Medical University of South Carolina, Charleston, South Carolina 29425, USA. flumepa@musc.edu
authors.forename: Patrick A
authors.initials: PA
authors.lastname: Flume
authors.forename: Antine
authors.initials: A
authors.lastname: Stenbit
mesh_terms: D000293:Adolescent; D000328:Adult; D001987:Bronchiectasis / Q000503:physiopathology; D003550:Cystic Fibrosis / Q000150:complications / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics / Q000378:metabolism; D005260:Female; D006801:Humans; D008297:Male; D012307:Risk Factors
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator