Genetics of pancreatitis.
There was some recent progress in the understanding of genetic risk factors in chronic pancreatitis. Due to this progress some of the traditional views of the subject will change. Today, genetic risk factors are attributed a much more important role that in the past. The frequency and strength of mutations were higher than expected. Strong variants were the rare autosomal-dominant mutations N29I and R122H of PRSS1 (cationic trypsinogen) and homozygous N34S of SPINK1 (pancreatic secretory trypsin inhibitor). Other mutations (heterozygous N34S, CFTR) were of lower relevance but still mediate a higher risk than alcohol consumption. The course of genetically determined pancreatitis is rather mild. In the long term pancreas cancer was found in some patients but apart from non-smoking no adequate prophylactic strategy is available up to now.
Keim
V
V
Medizinische Klinik II, Universitätsklinikum Leipzig, Leipzig, Germany. keimv@medizin.uni-leipzig.de
D002352:Carrier Proteins / Q000235:genetics; D002908:Chronic Disease; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics; D003920:Diabetes Mellitus / Q000209:etiology; D018450:Disease Progression; D006801:Humans; D009154:Mutation; D010190:Pancreatic Neoplasms / Q000517:prevention & control; D010195:Pancreatitis / Q000150:complications / Q000235:genetics* / Q000517:prevention & control; D014359:Trypsin Inhibitor, Kazal Pancreatic; D014362:Trypsinogen / Q000235:genetics
C505032:CFTR protein, human; D002352:Carrier Proteins; C486642:SPINK1 protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D014359:Trypsin Inhibitor, Kazal Pancreatic; D014362:Trypsinogen