Title: Cystic fibrosis: terminology and diagnostic algorithms
Authors: De Boeck, Christiane ×
Wilschanski, M
Castellani, C
Taylor, C
Cuppens, Harry
Dodge, J
Sinaasappel, M #
Diagnostic Working Group #
Issue Date: Jul-2006
Publisher: B m j publishing group
Series Title: Thorax vol:61 issue:7 pages:627-635
Abstract: 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.
ISSN: 0040-6376
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Human Mutations and Polymorphisms Section (-)
Pediatric Pulmonology Section (-)
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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