The spectrum of CFTR-related disease

Michael P. Boyle

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish (US)
Pages (from-to)522-525
Number of pages4
JournalInternal Medicine
Volume40
Issue number6
DOIs
StatePublished - Jun 2001

Keywords

  • ABPA
  • Cystic fibrosis
  • Pancreatitis

ASJC Scopus subject areas

  • Internal Medicine

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