The Spectrum of CFTR-related Disease

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概要

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• 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.(Internal Medicine 40: 522-525, 2001)

• 社団法人 日本内科学会の論文

著者

• Boyle Michael

  Johns Hopkins University School Of Medicine

関連論文

• The Spectrum of CFTR-related Disease

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