Phenotypic characterisation of patients with intermediate sweat chloride values: towards validation of the European diagnostic algorithm for cystic fibrosis

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...

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Bibliographic Details
Published in:	Thorax 2009-08, Vol.64 (8), p.683-691
Main Authors:	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
Format:	Article
Language:	eng
Subjects:	Adolescent Adult Algorithms Biological and medical sciences Cardiology. Vascular system Child Chlorides - analysis Cystic Fibrosis - diagnosis Cystic Fibrosis - genetics Cystic Fibrosis Transmembrane Conductance Regulator - analysis Cystic Fibrosis Transmembrane Conductance Regulator - genetics Errors of metabolism Female Humans Male Medical sciences Medicin och hälsovetenskap Metabolic diseases Miscellaneous hereditary metabolic disorders Mutation Phenotype Pneumology Sodium Sweat - chemistry Young Adult
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Summary:	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, patients with intermediate sweat chloride values in whom either additional CF diagnostic test was abnormal were compared with subjects in whom this was not the case and patients with classic CF.Methods:The phenotypic features of four groups were compared: 59 patients with CFTR dysfunction, 46 with an intermediate sweat chloride concentration but no evidence of CFTR dysfunction (CF unlikely), 103 patients with CF and pancreatic sufficiency (CF-PS) and 62 with CF and pancreatic insufficiency (CF-PI).Results:The CFTR dysfunction group had more lower respiratory tract infections (p = 0.01), more isolation of CF pathogens (p
ISSN:	0040-6376 1468-3296 1468-3296