The diagnosis of cystic fibrosis
K De Boeck, F Vermeulen, L Dupont - La Presse Médicale, 2017 - Elsevier
Establishing the diagnosis of cystic fibrosis (CF) is straight forward in the majority of patients:
they present with a clear clinical picture (most frequently chronic respiratory symptoms plus
malabsorption), the sweat chloride value is> 60 mmol/L and two known disease causing
CFTR mutations are identified. In less than 5% of subjects, mainly those with a milder or
limited phenotype, the diagnostic process is more complex, because initial diagnostic test
results are inconclusive: sweat chloride concentration in the intermediate range, less than 2 …
they present with a clear clinical picture (most frequently chronic respiratory symptoms plus
malabsorption), the sweat chloride value is> 60 mmol/L and two known disease causing
CFTR mutations are identified. In less than 5% of subjects, mainly those with a milder or
limited phenotype, the diagnostic process is more complex, because initial diagnostic test
results are inconclusive: sweat chloride concentration in the intermediate range, less than 2 …