title: [Genetic risk factors in pancreatic diseases--significance for general practice].
abstract: GENETIC RISK FACTORS: Recently, several genetic risk factors for chronic pancreatic diseases were found. In patients with chronic pancreatitis several mutations of the cationic trypsinogen were identified. In the majority of these subjects an autosomal dominant disease was observed. Mutations in the pancreatic secretory trypsin inhibitor (SPINK 1) were found in 20% of subjects with idiopathic, in 5% of those with alcoholic chronic and in 50% of those with tropical pancreatitis. Further variants were identified in CFTR (Cystic Fibrosis Transmembrane Conductance Regulator), a chlorid transporter initially identified a disease-causing molecule in cystic fibrosis. In approximately 20-25% of the patients with chronic pancreatitis a mutation of one of these genes can be found.
  A genetic investigation is useful when there is evidence for a family history of chronic pancreatitis and, at absence of typical risk factors, in patients with onset of disease earlier than 35-40 years of age.
  
  
  CONCLUSIONS
  In addition to alcohol abstinence the patients should be advised not to smoke. National and international registers as well as self-aid groups exist.
authors.affiliation: Medizinische Klinik und Poliklinik II der Universität Leipzig. keimv@medizin.uni-leipzig.de
authors.forename: Volker
authors.initials: V
authors.lastname: Keim
mesh_terms: D002908:Chronic Disease; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D004252:DNA Mutational Analysis; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D010195:Pancreatitis / Q000235:genetics*; D019512:Pancreatitis, Alcoholic / Q000235:genetics; D012306:Risk; D014357:Trypsin; D014362:Trypsinogen / Q000235:genetics*
chemical_list: C505032:CFTR protein, human; C064831:PRSS2 protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D014362:Trypsinogen; D014357:Trypsin