Germline mutations in CFTR and PSTI genes in chronic pancreatitis patients.
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.
Gaia
Ezio
E
Struttura Complessa di Gastroenterologia, Dipartimento di Clinica Medica, Azienda Ospedaliera San Luigi Gonzaga, Torino, Italy.
Salacone
Paola
P
Gallo
Monica
M
Promis
Gianni Gerbino
GG
Brusco
Alfredo
A
Bancone
Claudia
C
Carlo
Arduino
A
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
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