Hereditary pancreatitis in children

Abstract

Background: Hereditary Pancreatitis (HP) is a rare inherited condition. We reviewed our experience over the last 20 years. Aims: The aim of our study was to evaluate the clinical course of HP in children. Patients & methods: 240 children with chronic pancreatitis, hospitalized since 1988 to 2013, were enrolled into the study. The medical records of these patients were reviewed for data on the presentation, diagnostic findings and endoscopic treatment. All children were screened for the PRSS1 gene mutations. Results: Hereditary pancreatitis was diagnosed in 31 patients (12.9%). PRSS1 gene mutations were found in 27 patients. We detected R122H/in 13, R122C/in 8, N29I/in 5 and E79K/in 1 patient. Family history was positive in 26 children with HP (84%). In 4 patients without mutations diagnosis was made when patients satisfied the requirements of the family history. In one patient we found SPINK1 mutation. In 2 children CFTR mutation was present. There was no difference in age of the disease onset between HP group and non-HP group (8 vs. 9.1 years; NS). In children with PRSS1 mutation ERCP had mean 2,5o Cambridge grade, vs. 1.6o, p<0.05. 19 patients with HP had calcifications on imaging studies (62% vs. 31%, p<0.05). Therapeutic intervention was more frequent in the HP group (75% vs. 35%; p<0.05). Pancreatic duct stenting was done in 16 children with HP (58% vs. 26%; p<0.05). ESWL was performed more frequent in HP group (20% vs. 3%; p<0.05). Conclusion: Hereditary pancreatitis in children has worse clinical course than CP in children without PRSS1 mutations.