Клиническое наблюдение наследственного панкреатита у 4 сибсов вследствие мутации в гене PRSS1

Abstract

Hereditary pancreatitis in children remains a challenging problem in clinical genetics, gastroenterology, and surgery. Genetic causes account for more than 50% of all cases of acute recurrent pancreatitis and 75% of chronic pancreatitis in children. The development of chronic pancreatitis is commonly caused by mutations in the CFTR, PRSS1, SPINK1, CTRC, and CPA1 genes. This article presents a clinical case of hereditary pancreatitis with an autosomal dominant inheritance in 4 siblings, in whom a pathogenic variant in the PRSS1 gene was detected during molecular genetic testing. Key words: hereditary pancreatitis, pathogenic variant, PRSS1 gene, children, siblings