Genetics of pancreatitis: a guide for clinicians.
Chronic pancreatitis is an inflammatory disease of the pancreas leading to progressive fibrosis that presents with severe abdominal pain and may result in exocrine and/or endocrine insufficiency at later stages. Although alcohol is the strongest contributing factor for disease development, some patients feature none of the known classical risk factors and were consequently classified as having idiopathic or, in the presence of a positive family history, hereditary disease. Today, several mutations have been identified that predispose carriers to development of chronic pancreatitis. The genetic studies of the past decade have clearly contributed to a better understanding of the disease's pathogenesis. Currently known mutations associated with chronic pancreatitis and the implications for clinicians are discussed in this review.
Treiber
Matthias
M
Technical University of Munich, Second Medical Department, Ismaninger Str 22, D-81675 München, Germany.
Schlag
Christoph
C
Schmid
Roland M
RM
D002918:Chymotrypsin / Q000235:genetics; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics; D005260:Female; D005786:Gene Expression Regulation; D020022:Genetic Predisposition to Disease / Q000453:epidemiology*; D005820:Genetic Testing; D006801:Humans; D015994:Incidence; D008297:Male; D009154:Mutation; D050500:Pancreatitis, Chronic / Q000453:epidemiology / Q000235:genetics* / Q000503:physiopathology; D017410:Practice Guidelines as Topic; D011379:Prognosis; D018570:Risk Assessment; D014362:Trypsinogen / Q000235:genetics
D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D014362:Trypsinogen; D002918:Chymotrypsin