Article
Phenotypic characterisation of patients with intermediate sweat chloride values: towards validation of the European diagnostic algorithm for cystic fibrosis.
Thorax - 1 Aug 2009
Goubau C, Wilschanski M, Skalická V, Lebecque P, Southern K W, Sermet I, Munck A, Derichs N, Middleton P G, Hjelte L, Padoan R, Vasar M, De Boeck K
Abstract excerpt
BACKGROUND: In patients with symptoms suggestive of cystic fibrosis (CF) and intermediate sweat chloride values (30-60 mmol/l), extensive CFTR gene mutation analysis and nasal potential difference (NPD) measurement are used as additional diagnostic tests and a positive result in either test provides evidence of CFTR dysfunction. To define the phenotype of such patients and confirm the validity of grouping them,...
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