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Paediatric Pulmonology and Allergology
2003 April, Vol. VI, No. 1 (pp.2168-2177)
Diagnosis of cystic fibrosis: the easy case, the difficult case
Andrew Bush
A recent Consensus Statement proposed that the diagnosis of CF could be made on the basis of characteristic phenotypic features, a history of CF in a sibling, or a positive newborn screening test plus evidence of a CFTR abnormality as supported by elevated sweat chloride concentrations, or identification of mutations known to cause CF or in vivo demonstration of characteristic abnormalities in ion transport across the nasal or airway epithelium In most cases, the difficulty in making the diagnosis of CF lies in thinking of the possibility; once considered, simple tests are usually diagnostic. A small minority have equivocal tests, and should be followed up carefully, with treatment driven by the results of careful and repeated evaluation. The well child with positive test should not be considered to have a disease, but again should be carefully evaluated at regular intervals. Finally, the possibility of an erroneous CF diagnosis should always be considered, and the child whose clinical course is atypical should be re-evaluated.