Hereditary Pancreatitis: Overview

Pancreatitis refers to digestive system diseases that are challenging to diagnose and manage. They are also associated with irreversible changes in the organ’s parenchyma, that can lead to lethal outcome. The etiology of pancreatitis is diverse due to various exogenous and endogenous factors that determine the nature and severity of the pathological process itself. The major causes in children are the following: obstruction of ductus choledochus or duodenal papilla, abdominal trauma, viral infections, and some medications. Experts have revealed, after several studies, the association between pancreatitis and genetic factors causing up ton 75% of cases of chronic pancreatitis. Nowadays, genes associated with hereditary pancreatitis include PRSS1 (cationic trypsinogen gene), SPINK1 (serine peptidase inhibitor Kazal, type 1), CFTR (cystic fibrosis transmembrane conduction regulator), CTRC (encoding the functions of chymotrypsin C). The diagnostic criteria for hereditary pancreatitis have been established as for any other pancreatitis. The leading method for visualization of changes in pancreas remains ultrasound (US) examination of abdominal organs, endoscopic US, or magnetic resonance imaging. Molecular genetic testing is advisable for children with manifestations of pancreatitis in addition to recommended basic examinations.