The Role of SPINK1 Gene Mutation in Chronic Pancreatitis Development and Progression
Authors: Yurii A. Kucheryavyi, Zalina F. Tibilova, Dmitrii N. Andreev, Andrei V. Smirnov, Igor' V. Maev
Number of views: 381
The research is aimed at the evaluation of the role of SPINK1 gene mutations in the development of different etiologic variants of chronic pacreatitis (CP). The examination of 240 CP patients and 107 healthy people, constituting the control group (CG) was undertaken. All the patients underwent general and biochemical blood analysis, clinical urinalysis, standard coprological examination, immunoenzyme method of fecal elastase-1 determination, esophagogastroduodenoscopy (EGC), ultrasound investigation and/or computer tomography (CT) of abdominal cavity organs and genetic research on mutation N34S (AAT>AGT) identification in SPINK1 gene, using the method of restriction analysis. N34S mutation was determined in 22 (9.2 %) CP patients and in 3 (2.8 %) CG people. The upper frequency of N34S mutation was determined in patients with toxic and idiopathic CP, which has reached 16.7 % in total and 13.3 % for homozygotes. High frequency of N34S mutation was registered in patients with complicated forms of idiopathic CP, which can increase the risk of disease complication.