The diagnosis of cystic fibrosis: a consensus statement. Cystic Fibrosis Foundation Consensus Panel.
The diagnostic criteria proposed here are not likely to cover every possible clinical scenario, and there will be clinical dilemmas. For the vast majority of patients with CF, the diagnosis will be suggested by the presence of one or more characteristic clinical features, a history of CF in a sibling, or a positive newborn screening test result and will then be confirmed by laboratory evidence of CFTR dysfunction (Table V). Abnormal CFTR function will usually be documented by two elevated sweat chloride concentrations obtained on separate days or identification of two CF mutations. For patients in whom sweat chloride concentrations are normal or borderline and in whom two CF mutations are not identified, an abnormal nasal PD measurement recorded on 2 separate days can be used as evidence of CFTR dysfunction. Clinical judgment will continue to be essential in patients who have typical or "atypical" clinical features but who lack conclusive evidence of CFTR dysfunction. Such patients will require close clinical follow-up along with laboratory reevaluation as appropriate.
Rosenstein
B J
BJ
Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
Cutting
G R
GR
D002648:Child; D003550:Cystic Fibrosis / Q000175:diagnosis* / Q000235:genetics; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008564:Membrane Potentials; D009154:Mutation; D009297:Nasal Mucosa / Q000503:physiopathology; D010641:Phenotype; D013542:Sweat / Q000737:chemistry
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator