R116C mutation in PRSS1 gene causes hereditary pancreatitis and elevated creatine kinase in one child：a case report

Abstract Background Functionally acquired mutations in the PRSS1 gene can lead to autosomal dominant hereditary pancreatitis (Hereditary Pancreatitis, HP). The most frequently reported mutation sites are R122H, N29I, A16V, and R122C. R116C mutation was less frequently reported to be associated with HP. Moreover, there are few reports about association of hereditary pancreatitis with elevated creatine kinase in children. Case presentation: We reported a patient presented with repeated abdominal pain and recurrent acute pancreatitis accompanied by elevated creatine kinase. The genomic DNA of lymphocytes from peripheral blood was extracted for whole exon gene analysis. The patient had a heterozygous mutation in exon 3 c.346C > T, resulting in substitution of cysteine at position 116 with arginine (p.R116C). Her father had the same mutation in exon 3 c.346C > T. The diagnosis of hereditary pancreatitis due to R116C mutation in PRSS1 gene was confirmed. Conclusions The patient's hereditary pancreatitis is caused by the mutation of PRSS1 gene R116C, characterized by elevated creatine kinase in patient.