Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis

摘要: Chronic pancreatitis (CP) is a continuing or relapsing inflammatory disease of the pancreas. In approximately one-third all cases, no aetiological factor can be found, and these patients are classified as having idiopathic disease. Pathophysiologically, autodigestion inflammation may caused by either increased proteolytic activity decreased protease inhibition. Several studies have demonstrated mutations in cationic trypsinogen gene (PRSS1) with hereditary CP. It thought that result trypsin within pancreatic parenchyma. Most CP, however, do not PRSS1 (ref. 4). Here we analysed 96 unrelated children adolescents CP for encoding serine inhibitor, Kazal type 1 (SPINK1), inhibitor. We found 23% patients. 18 patients, 6 whom were homozygous, detected missense mutation codon 34 (N34S). also four other sequence variants. Our results indicate SPINK1 associated chronic pancreatitis.