title: Germline mutations in CFTR and PSTI genes in chronic pancreatitis patients.
abstract: Mutations in the cationic trypsinogen, cystic fibrosis transmembrane conductance regulator (CFTR) and pancreatic secretory trypsinogen inhibitor (PSTI) genes have recently been associated with chronic pancreatitis. This paper investigates the frequency of CFTR and PSTI gene mutation in patients with idiopathic and alcoholic chronic pancreatitis, the clinical course of patients with these two kinds of disease, and examines the clinical differences between carriers and noncarriers of mutation. In idiopathic pancreatitis a significant increase was found in mutation frequency both in the CFTR gene (13%) and N34S mutation in the PSTI gene (3.9%), as well as an increase in familial disposition to pancreatic disorders. In alcohol-induced pancreatitis an increase in calcification, exocrine insufficiency, and diabetes mellitus was observed. In conclusions, mutations in the genes investigated are involved in causing idiopathic pancreatitis. Such mutations have no connection either with the age at onset or the clinical course of the disease.
authors.affiliation: Struttura Complessa di Gastroenterologia, Dipartimento di Clinica Medica, Azienda Ospedaliera San Luigi Gonzaga, Torino, Italy.
authors.forename: Ezio
authors.initials: E
authors.lastname: Gaia
authors.forename: Paola
authors.initials: P
authors.lastname: Salacone
authors.forename: Monica
authors.initials: M
authors.lastname: Gallo
authors.forename: Gianni Gerbino
authors.initials: GG
authors.lastname: Promis
authors.forename: Alfredo
authors.initials: A
authors.lastname: Brusco
authors.forename: Claudia
authors.initials: C
authors.lastname: Bancone
authors.forename: Arduino
authors.initials: A
authors.lastname: Carlo
mesh_terms: D000328:Adult; D002352:Carrier Proteins; D002908:Chronic Disease; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005260:Female; D018095:Germ-Line Mutation; D006133:Growth Substances / Q000235:genetics*; D006801:Humans; D036341:Intercellular Signaling Peptides and Proteins / Q000235:genetics*; D008297:Male; D010195:Pancreatitis / Q000235:genetics*; D019512:Pancreatitis, Alcoholic / Q000235:genetics; D011071:Poly T / Q000235:genetics; D011110:Polymorphism, Genetic; D014359:Trypsin Inhibitor, Kazal Pancreatic
chemical_list: C505032:CFTR protein, human; D002352:Carrier Proteins; D006133:Growth Substances; D036341:Intercellular Signaling Peptides and Proteins; C486642:SPINK1 protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D011071:Poly T; D014359:Trypsin Inhibitor, Kazal Pancreatic