Репозиторий Университета

© 2018, Dynasty Publishing House. All rights reserved. Chronic pancreatitis, being a complex multifactor clinico-genetic phenomenon, is a significant medical, social and economic problem. Study of pancreatitis remains a topical theme also for the paediatric cohort, especially taking into account practically similar morbidity rates in adults and children. The review presents information and analyzes main genetic risk factors of the development of pancreatitis. Mutations and polymorphisms of the CFTR, CTRC, SPINK1, CPA1, PRSS1, PRSS2 genes that are significant for functioning of the pancreas are discussed in detail. Examples of genetic variants associated with increased or decreased risks of developing disease are given. Special attention is paid to difficulties of interpreting the results of molecular-genetic testing associated with certain gene homology, presence of pseudogenes and disease cases conditioned by spontaneous mutation. Detection of genetic risk factors of chronic pancreatitis allows to early prevent the development of disease in the proband’s relatives, and also to take a more personalized approach to the patient’s treatment.