Marian Bátovský
Chronic pancreatitis is a persistent inflammation of the pancreas which results in irreversible morphological changes and the impairment of both exocrine and endocrine functions. Genetic studies of hereditary, familial, idiopathic, and tropical forms of chronic pancreatitis have led to the identification of firmly established susceptibility of genes namely PRSS 1, SPINK 1 and CFTR. Relatively newly found disease-causing mutations are mutations of CTRC, CASR and PRSS 2 genes. Two clear loss-of-function mutations in PRSS 1, a missense mutation of SPINK 1 gene and an experimentally demonstrated loss-of-function variant in PRSS 2 protect against chronic pancreatitis. The last findings provided strong support for the hypothesis that chronic pancreatitis is an autodigestive disease in which prematurely activated trypsin within the pancreas was thought to play a pivotal role in triggering of the activation cascade of all pancreatic digestive enzymes.