title: Role of genetic disorders in acute recurrent pancreatitis.
abstract: There was remarkable progress in the understanding of the role genetic risk factors in chronic pancreatitis. These factors seem to be much more important than thought in the past. The rare autosomal-dominant mutations N29I and R122H of PRSS1 (cationic trypsinogen) as well as the variant N34S of SPINK1 (pancreatic secretory trypsin inhibitor) are associated to a disease onset in childhood or youth. Compared to chronic alcoholic pancreatitis the progression is slow so that for a long time only signs of acute-recurrent pancreatitis are found. Only at later time points (more than 10-15 years) there is evidence for chronic pancreatitis in the majority of patients. Acute recurrent pancreatitis may therefore be regarded as a transition state until definite signs of chronic pancreatitis are detectable.
authors.affiliation: Medizinische Klinik II, Universitatsklinikum Leipzig, Philipp-Rosenthal-Strasse 27, D-04103 Leipzig, Deutschland, Germany. keimv@medizin.uni-leipzig.de
authors.forename: Volker
authors.initials: V
authors.lastname: Keim
mesh_terms: D002352:Carrier Proteins / Q000235:genetics; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics; D020022:Genetic Predisposition to Disease; D006801:Humans; D009154:Mutation; D010195:Pancreatitis / Q000209:etiology / Q000235:genetics*; D050500:Pancreatitis, Chronic / Q000209:etiology / Q000235:genetics; D012008:Recurrence; D012307:Risk Factors; D014357:Trypsin; D014359:Trypsin Inhibitor, Kazal Pancreatic; D014362:Trypsinogen / Q000235:genetics
chemical_list: C505032:CFTR protein, human; D002352:Carrier Proteins; C486642:SPINK1 protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D014359:Trypsin Inhibitor, Kazal Pancreatic; D014362:Trypsinogen; C489303:PRSS1 protein, human; D014357:Trypsin