Document Detail


Nonclassic cystic fibrosis and CFTR-related diseases.
MedLine Citation:
PMID:  14534402     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
PURPOSE OF REVIEW: To review the spectrum of disease caused by mutations in the cystic fibrosis (CF) gene. RECENT FINDINGS: The growing recognition of "atypical" cases of cystic fibrosis presenting in adolescence or adulthood and manifested by disease in only one or two organ systems, along with CF diagnostic criteria based not only on sweat chloride values but genetic screening and nasal ion transport measurements, have made the diagnosis of CF less straightforward for many clinicians. SUMMARY: This review seeks to clarify the key diagnostic criteria for CF and uses the Cystic Fibrosis Foundation's Consensus Diagnostic Guidelines and recent publications to discuss the characteristics of classic CF, nonclassic CF, and CFTR-related diseases.
Authors:
Michael P Boyle
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.; Review    
Journal Detail:
Title:  Current opinion in pulmonary medicine     Volume:  9     ISSN:  1070-5287     ISO Abbreviation:  Curr Opin Pulm Med     Publication Date:  2003 Nov 
Date Detail:
Created Date:  2003-10-09     Completed Date:  2004-03-08     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  9503765     Medline TA:  Curr Opin Pulm Med     Country:  United States    
Other Details:
Languages:  eng     Pagination:  498-503     Citation Subset:  IM    
Affiliation:
Johns Hopkins Adult CF Program, Division of Pulmonary and Critical Care Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA. mboyle@jhmi.edu
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Adult
Cystic Fibrosis / diagnosis*,  genetics*
Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
Humans
Respiratory Tract Diseases / diagnosis,  genetics
Grant Support
ID/Acronym/Agency:
HL66618/HL/NHLBI NIH HHS; HL68927/HL/NHLBI NIH HHS; HL71847/HL/NHLBI NIH HHS
Chemical
Reg. No./Substance:
0/CFTR protein, human; 126880-72-6/Cystic Fibrosis Transmembrane Conductance Regulator

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