Document Detail

Cystic fibrosis: terminology and diagnostic algorithms.
MedLine Citation:
PMID:  16384879     Owner:  NLM     Status:  MEDLINE    
There is great heterogeneity in the clinical manifestations of cystic fibrosis (CF). Some patients may have all the classical manifestations of CF from infancy and have a relatively poor prognosis, while others have much milder or even atypical disease manifestations and still carry mutations on each of the CFTR genes. It is important to distinguish between these categories of patients. The European Diagnostic Working Group proposes the following terminology. Patients are diagnosed with classic or typical CF if they have one or more phenotypic characteristics and a sweat chloride concentration of >60 mmol/l. The vast majority of CF patients fall into this category. Usually one established mutation causing CF can be identified on each CFTR gene. Patients with classic CF can have exocrine pancreatic insufficiency or pancreatic sufficiency. The disease can have a severe course with rapid progression of symptoms or a milder course with very little deterioration over time. Patients with non-classic or atypical CF have a CF phenotype in at least one organ system and a normal (<30 mmol/l) or borderline (30-60 mmol/l) sweat chloride level. In these patients confirmation of the diagnosis of CF requires detection of one disease causing mutation on each CFTR gene or direct quantification of CFTR dysfunction by nasal potential difference measurement. Non-classic CF includes patients with multiorgan or single organ involvement. Most of these patients have exocrine pancreatic sufficiency and milder lung disease. Algorithms for a structured diagnostic process are proposed.
K De Boeck; M Wilschanski; C Castellani; C Taylor; H Cuppens; J Dodge; M Sinaasappel;
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Publication Detail:
Type:  Journal Article; Review     Date:  2005-12-29
Journal Detail:
Title:  Thorax     Volume:  61     ISSN:  0040-6376     ISO Abbreviation:  Thorax     Publication Date:  2006 Jul 
Date Detail:
Created Date:  2006-06-29     Completed Date:  2006-07-28     Revised Date:  2013-06-07    
Medline Journal Info:
Nlm Unique ID:  0417353     Medline TA:  Thorax     Country:  England    
Other Details:
Languages:  eng     Pagination:  627-35     Citation Subset:  IM    
Department of Pediatrics, Pediatric Pulmonology, University Hospital of Leuven, Herestraat 49, 3000 Leuven, Belgium.
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MeSH Terms
Action Potentials
Chlorides / analysis
Cystic Fibrosis / diagnosis*,  genetics
Cystic Fibrosis Transmembrane Conductance Regulator / analysis,  genetics
Infant, Newborn
Ion Transport
Mutation / genetics
Neonatal Screening
Sweat / chemistry
Terminology as Topic*
Reg. No./Substance:
0/CFTR protein, human; 0/Chlorides; 126880-72-6/Cystic Fibrosis Transmembrane Conductance Regulator
Comment In:
Thorax. 2007 May;62(5):462; author reply 463   [PMID:  17468461 ]
Thorax. 2006 Jul;61(7):556-7   [PMID:  16807389 ]

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