title: Cystic fibrosis and related diseases of the pancreas.
abstract: The discovery of the gene for cystic fibrosis (CF), the cystic fibrosis transmembrane conductance regulator (CFTR), brought about a new era in the study of this disease. Identification of the molecular target has yielded a flood of data that add to our understanding of the pathogenesis, diagnosis and treatment of CF. The CFTR protein is a cAMP-regulated Cl(-) channel with multiple functions in epithelial cells. In the exocrine pancreas the CFTR plays a key role in the apical Cl(-), HCO(3)(-), and water transport in duct cells. The severe loss of functions, caused by mutations of the CFTR gene, leads to pathological lesions of the pancreas. Over 1200 CFTR mutations and polymorphisms have been identified and their diversity may explain the high level of heterogeneity in the CF phenotype. Mutation analyses of the CFTR gene have revealed a spectrum of CFTR-related diseases that do not fit the classical CF picture but are associated with dysfunction of CFTR, such as chronic pancreatitis.
authors.affiliation: Department of Internal Medicine II, Nagoya University School of Medicine, Nagoya, Japan.
authors.forename: Satoru
authors.initials: S
authors.lastname: Naruse
authors.forename: Motoji
authors.initials: M
authors.lastname: Kitagawa
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Ishiguro
authors.forename: Kotoyo
authors.initials: K
authors.lastname: Fujiki
authors.forename: Tetsuo
authors.initials: T
authors.lastname: Hayakawa
mesh_terms: D002908:Chronic Disease; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics; D006801:Humans; D010195:Pancreatitis / Q000235:genetics*
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator