Genetics of chronic pancreatitis.
Chronic pancreatitis is an inflammatory disease causing structural and progressive damage resulting in permanent deficit of both the exocrine and endocrine components. Although a few risk factors for the disease are known, of which the primary one is alcohol consumption, the actual mechanisms responsible for the initial steps and evolution of the disease are not. The discovery of mutations in the cationic trypsinogen gene in patients with hereditary pancreatitis and a high incidence of mutations in the cystic fibrosis transmembrane conductance regulator gene (CFTR) in patients with chronic pancreatitis might be important clues to understanding the molecular mechanisms of this disease.
Arduino
C
C
Unità Operativa di Genetica Medica, Azienda Ospedaliera S. Giovanni Battista di Torino, Italy.
Gaia
E
E
D002908:Chronic Disease; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics / Q000378:metabolism; D006801:Humans; D009154:Mutation / Q000235:genetics; D010195:Pancreatitis / Q000235:genetics* / Q000378:metabolism
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator