Téma: Overview works

Genetics of chronic pancreatitis

Marian Bátovský

Chronic pancreatitis is process of chronic inflammatory infiltration that leads inadvertenly to the destruction of the native pancreas. Salient pathologic features of the disease include widespread fibrotic replacement of the pancreatic parenchyma, lymphocytic infiltration , and metaplastic changes in all cellular compartments of the pancreas. Hereditary pancreatitis is disease of relatively low incidence and can be differentiated from chronic pancreatitis by the early onset and by the considerably higher risk for the development of pancreatis adenocarcinoma. The genetic basis of hereditary pancreatitis has been traced to autosomal dominant mutations in cationic trypsinogen (PRSS1) with 80 % penetrance. Mutations in the serine protease inhibitor Kazal type 1 (SPINK 1) were foud to be associated with chronic pancreatitis in children, families, tropical pancreatitis and to a lesser degree, in alcoholics. Finally, the pancreas must generate a bicarbonate-rich fluid to „flush“ trypsinogen out of pancreatic duct. This action depends on the cystic fibrosis transmembrane conductance regulator (CFTR). Mutation in the CFTR gene lead to cystic fibrosis. Failure to produce sufficient bicarbonate-rich pancreatic juice because of CFTR mutations is linked with chronic pancreatitis.

Ročník 2008  Témy časopisu Internal medicine 5 / 2008

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3. LIPID Study Group. Prevention of cardiovascular events and death with pravastatin in patients with coronary heart disease and a broad range of initial cholesterol levels. N Engl J Med 1998; 339: 1349-1357.
4. Jurkovičová O, Spitzerová H, Cagáň S. Komorové arytmie a náhla srdcová smrť pri akútnom infarkte myokardu. Bratisl Lek Listy 1997; 98: 379-389.
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