Document Detail


Phenotypic characterisation of patients with intermediate sweat chloride values: towards validation of the European diagnostic algorithm for cystic fibrosis.
MedLine Citation:
PMID:  19318346     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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<0.001) and clubbing (p = 0.001) than the CF unlikely group, but less frequent respiratory tract infections with CF pathogens than the CF-PS group (p = 0.05). Patients in the CF-PS group had a milder phenotype than those with PI. Many features showed stepwise changes through the patient groups. CONCLUSION: Patients with intermediate sweat chloride values and two CFTR mutations or an abnormal NPD measurement have a CF-like phenotype compatible with CFTR dysfunction and, as a group, differ phenotypically from patients with intermediate sweat chloride values in whom further CF diagnostic tests are normal as well as from CF-PS and CF-PI patients.
Authors:
C Goubau; M Wilschanski; V Skalick??; P Lebecque; K W Southern; I Sermet; A Munck; N Derichs; P G Middleton; L Hjelte; R Padoan; M Vasar; K De Boeck
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Publication Detail:
Type:  Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't     Date:  2009-03-23
Journal Detail:
Title:  Thorax     Volume:  64     ISSN:  1468-3296     ISO Abbreviation:  Thorax     Publication Date:  2009 Aug 
Date Detail:
Created Date:  2009-07-29     Completed Date:  2009-12-22     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0417353     Medline TA:  Thorax     Country:  England    
Other Details:
Languages:  eng     Pagination:  683-91     Citation Subset:  IM    
Affiliation:
Department of Paediatrics, Paediatric Pulmonology, University Hospital of Leuven, Herestraat 49, 3000 Leuven, Belgium.
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Adult
Algorithms*
Child
Chlorides / analysis*
Cystic Fibrosis / diagnosis,  genetics*
Cystic Fibrosis Transmembrane Conductance Regulator / analysis,  genetics
Female
Humans
Male
Mutation
Phenotype
Sodium
Sweat / chemistry*
Young Adult
Chemical
Reg. No./Substance:
0/Chlorides; 126880-72-6/Cystic Fibrosis Transmembrane Conductance Regulator; 7440-23-5/Sodium

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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