Document Detail

The spectrum of CFTR-related disease.
MedLine Citation:
PMID:  11446679     Owner:  NLM     Status:  MEDLINE    
There is increasing appreciation for the presence of diseases which do not fit the criteria for classic cystic fibrosis but are caused by dysfunction of the cystic fibrosis transmembrane conductance regulator (CFTR). This case describes a patient with documented CFTR dysfunction by nasal potential difference measurement who presents with chronic idiopathic pancreatitis, sinusitis, and allergic bronchopulmonary aspergillosis (ABPA), but not congenital bilateral absence of the vas deferens (CBAVD) or other classic symptoms of cystic fibrosis. This rare case demonstrates both the spectrum of disease which can be seen with CFTR dysfunction and the steps required to document CFTR involvement.
M P Boyle
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Internal medicine (Tokyo, Japan)     Volume:  40     ISSN:  0918-2918     ISO Abbreviation:  Intern. Med.     Publication Date:  2001 Jun 
Date Detail:
Created Date:  2001-07-11     Completed Date:  2002-06-21     Revised Date:  2005-11-17    
Medline Journal Info:
Nlm Unique ID:  9204241     Medline TA:  Intern Med     Country:  Japan    
Other Details:
Languages:  eng     Pagination:  522-5     Citation Subset:  IM    
Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
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MeSH Terms
Cystic Fibrosis / diagnosis*
Cystic Fibrosis Transmembrane Conductance Regulator*
Reg. No./Substance:
0/CFTR protein, human; 126880-72-6/Cystic Fibrosis Transmembrane Conductance Regulator

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