[Pancreatic secretory trypsin inhibitor gene N34S mutation in patients with idiopathic chronic pancreatitis].

PURPOSE: To determine the frequency and prognostic significance of mutation N34S in the development of CP in a mixed Russian population. METHODS: The study included 83 patients with idiopathic CP and 103 healthy individuals. The diagnosis of CP was based on clinical and instrumental data in accordance with the criteria of M-ANNHEIM. Everyone involved in this study using PCR followed by restriction analysis performed the N34S mutation analysis in the gene for the ICU. RESULTS: N34S mutation was detected in 12 patients with CP and in 3 of the control group, which accounted for 14.6 and 2.9% respectively; p<0,05. The odds ratio (OR) of idiopathic CP in the presence of mutation N34S was 4.62 (95% confidence interval (CI): 1,21-18,37). The difference in frequency of homozygotes the mutant allele was statistically significant: 10.97 and 0.97% in the main and control groups, respectively; p<0,05. The presence of mutations did not affect the frequency and severity of functional disorders of the pancreas, but the mutation N34S was statistically significantly more common in patients with calcifying pancreatitis (p<0,01) and the presence of pseudocysts (p<0,05). OR the development of calcification in patients with the presence of N345 was 13.44 (95% CI: 6,29-23,78). CONCLUSION: These data suggest that the mutation N34S plays a significant role in the development of CP in the Russian population and can detect more than 10% of cases of idiopathic CP.

[Effect of pancreatic secretory trypsin gene mutations on the development of chronic pancreatitis].

For the first time the relationship between mutations in the pancreatic secretory trypsin inhibitor (SPINK1) in humans and the development of chronic pancreatitis was established in 2000. By mid 2011 the number of studies on the influence of SPINK1 gene mutations on the development of pancreatitis exceeds 250, the results vary greatly. According to modern concepts, mutations in SPINK1 gene are associated with the development of both acute and chronic pancreatitis, and are defined in all etiological forms. Literature review shows the data of the most significant studies about the role of SPINK1 gene mutations in pancreatic diseases.