Share of some genetic and nongenetic risc factors in the patients with pseudotumoral chronic pancreatitis from the republic of Moldova

Abstract

Introduction: Chronic pancreatitis is a persistent and progressive inflammatory disease of the pancreas, with alterations of the exocrine and endocrine pancreatic functions and which may be caused by many environmental, endogenous and genetic factors. Materials and methods: 21 patients with pseudotumoral chronic pancreatitis, m/f-18/3, median age - 47.90±1.73 years were part of the study. The chronic pancreatitis diagnostic was established in accordance to the specific clinical and paraclinical criteria. The molecular and genetic investigations of the SPINK1 (N34S), PRSS1 (R122C), CFTR (R117H) genes were conducted in the Molecular Genetics Laboratory of the Institute of Genetics of the ASRM. Venous blood was used as a biological sample; the polymorphism of the candidate genes was identified through the analysis of enlarged fragment length and restriction fragment length polymorphism (RFLP), with the use of the respective primers. Results: Risk factors analysis showed a prevalence of food disorders – in 21 (100%) patients and alcohol – in 20 (95.24%), followed by smoking- in 19 (90.48%) patients, the presence of biliary pathology - in 19 (90.48%) patients, N34S mutation (SPINK1) - in 19 (90.48%) patients, including 9 (42.86%) – heterozygous and 10 (47.62%) - homozygous; R117H mutation (CFTR) –in 16 (76.19%) patients, including 12 (57.14%) – heterozygous and 4 (19.05%) - homozygous; R122C mutation (PRSS1) – in 15 (71.43%) patients including 11 (52.38%) – heterozygous and 4 (19.05%) - homozygotes, duodenal pathology - in 11 (52.38%) patients, previous surgery on the abdomen – in 11 (52.38%) patients, hypercholesterolemia- in 7 (33.33%) patients, noxious work conditions -in 7 (33.33%) patients, viral hepatitis – in 6 (28.57%) patients, hypertriglyceridemia – in 5 (23.81%), BMI> 25 kg / m2 – in 3 (14, 29%) and pancreatogene drugs – in 1 (4.76%) patient. Conclusion: Chronic pancreatitis is a polifactorial disease. In the patients with pseudotumoral chronic pancreatitis of the Republic of Moldova the major risk factors are food disorders, Associated with alcohol consumption and smoking; the genetic substrate is obvious by the presence of high levels of N34S (SPINK1), R117H (CFTR) and R122C (PRSS1) genic mutations.