Trypsinogen gene mutations in patients with chronic or recurrent acute pancreatitis

Three-point mutations (R117H, N21I, A16V) within the cationic trypsinogen g ene have been identified in patients with hereditary pancreatitis (HP). A g enetic background has also been discussed for idiopathic juvenile chronic p ancreatitis (IJCP), which closely mimicks the clinical pattern of HP, and a lcoholic chronic pancreatitis because only a small number of heavy drinkers develop pancreatitis. This prompted us to screen 104 patients in our well- defined pancreatitis cohort for the currently known cationic trypsinogen ge ne mutations. The R117H mutation was detected in seven patients (six patien ts of two clinically classified HP families, one patient with clinically cl assified IJCP) and the A16V mutation in one IJCP patient. No cationic tryps inogen gene mutations were found in the remaining 96 patients with chronic and recurrent acute pancreatitis of various etiologies. Our results demonst rate the need for genetic testing to exclude HP, particularly in the presen ce of an atypical or unknown family history. In addition, cationic trypsino gen gene mutations are no predisposing factor in patients with chronic and recurrent acute pancreatitis of different etiologies.