Reading this article will enable the readers to reinforce their knowledge of the pathophysiology of cystic fibrosis (CF), the pathogenesis of the lung disease, the criteria for diagnosis, and CF genotype/phenotype relationships.
The focus of this review is on the genetic and immunologic aspects of CF.
Relevant articles, current texts, data presented at the annual North American Cystic Fibrosis Conferences and distributed to the Directors of CF Centers by the CF Foundation were reviewed.
A MEDLINE database using subject keywords was searched from 1987 to date.
Background information derived from the author's 33 years of clinical experience at three of the CF Foundation's CF Care, Teaching and Resource Centers was also included.
Since CF is an inherited disorder, the genetic aspects are emphasized.
With the cloning of the CF gene, DNA analysis has assumed an important role in confirming the clinical diagnosis and in the improved understanding of the pathophysiology of this disorder.
Although DNA testing is highly specific, it is not very sensitive.
Cystic fibrosis gene structure and function are described briefly.
The pathophysiology of CF, as it relates to the CF gene defect, and the current knowledge of the pathogenesis of the lung disease are reviewed.
The criteria for the diagnosis proposed by the Clinical Practice Guidelines for CF are discussed. (...)
Mots-clés Pascal : Mucoviscidose, Etiopathogénie, Diagnostic, Expression génique, Exploration immunologique, Forme clinique, Fibrose, Poumon, Facteur risque, Prévalence, Caucasoïde, Article synthèse, Homme, Appareil respiratoire pathologie, Appareil digestif pathologie, Pancréas pathologie, Maladie héréditaire, Métabolisme pathologie, Déterminisme génétique, Poumon pathologie, Education santé
Mots-clés Pascal anglais : Cystic fibrosis, Etiopathogenesis, Diagnosis, Gene expression, Immunological investigation, Clinical form, Fibrosis, Lung, Risk factor, Prevalence, Caucasoid, Review, Human, Respiratory disease, Digestive diseases, Pancreatic disease, Genetic disease, Metabolic diseases, Genetic determinism, Lung disease, Health education
Notice produite par :
Inist-CNRS - Institut de l'Information Scientifique et Technique
Cote : 98-0064189
Code Inist : 002B13C03. Création : 14/05/1998.