Abstract
The etiology of chronic pancreatitis (CP) in children is varied and includes gene mutations, i.e. cationic trypsinogen gene mutations (PRSS1). Aim: The aim of this study was to assess prevalence of cationic trypsinogen gene mutations in children with chronic or acute recurrent pancreatitis (ARP) and its influence on clinical course of pancreatitis. Methods and Results: We evaluated 94 children with CP or ARP aged 3-18 yrs. PRSS1 gene mutations were found in 12 children (12,8%) with CP; 11 girls and 1 boy (aged 3,6-16, 3 years); 6 children had R122H/- mutation, 5 children had R122C/- and one child N29I/-. 11 children had positive family history of pancreatitis. In two patients with PRSS1 mutations, pancreas divisum was diagnosed. Two additional mutations were found in 2 patients (one patient had SPINK1 mutation N34S/-, and second one 5T variant in CFTR gene). There was no difference in age of the disease onset between patients with hereditary pancreatitis and patients without PRSS1 mutations (7.86 years vs. 9.01 years, NS). Pancreatitis grading, according to the Cambridge Classification System was 2,83° grade in PRSS1 group vs.1,45° in the group without mutations (p < 0,05). Conclusions: 1. Cationic trypsinogen gene mutations (PRSS1) are common in children with chronic pancreatitis. 2. Children with CP associated with PRSS1 have worst clinical course of the disease.
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More From: Journal of Pediatric Gastroenterology and Nutrition
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