The Role of Genetic Mutation in the Pathogenesis of Pancreatitis / 대한췌담도학회지

ABSTRACT

10–30% of patients with pancreatitis can be categorized as idiopathic pancreatitis, and some of them may be due to genetic alterations. Since hereditary pancreatitis develops from pediatric patients with symptoms related to pancreatitis, which usually progresses to chronic pancreatitis around 30 years of age, special attention should be paid to the development of pancreatic cancer in such patients. Up to now, there have been more than 30 genetic alterations associated with pancreatitis. Alterations in protease serine 1 (PRSS1), serine protease inhibitor Kazal type 1 (SPINK1), cystic fibrosis transmembrane conductance regulator (CFTR) and chymotrypsin C (CTRC) are common, which show diversity according to race and region. It is important to understand the characteristics of Korean patients with idiopathic pancreatitis through genetic studies. The purpose of this article is to review the role of genetic variations in the pathophysiology of idiopathic pancreatitis and to survey the results of Korean studies of idiopathic pancreatitis.