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PRSS1 and SPINK1 mutations in idiopathic chronic and recurrent acute pancreatitis.
World J Gastroenterol
September 2014
Mario Pelaez-Luna, Guillermo Robles-Diaz, Research Division, School of Medicine, UNAM, Pancreas Clinic-Gastroenterology Department, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, CP 14000, Mexico.
Aim: To identify gene mutations in PRSS1 and SPINK1 in individuals with early onset idiopathic chronic or recurrent acute pancreatitis.
Methods: The cationic trypsinogen gene (PRSS1; exons 2 and 3) and the serine protease inhibitor Kazal 1 gene (SPINK1; exon 3) were selectively amplified and sequenced from blood samples of 19 patients admitted to the Pancreas Clinic at our institution with chronic pancreatitis and/or idiopathic recurrent acute pancreatitis that were diagnosed or with onset before age 35. Fifty healthy volunteers served as controls.