Objectives: We evaluated the frequencies and clinical consequences of mutations in the genes encoding cationic trypsinogen, serine protease 1 (PRSS1), and serine protease inhibitor Kazal type 1 (SPINK1) in children with acute recurrent pancreatitis (ARP) and chronic pancreatitis (CP).
Patients and methods: The study population consisted of 32 children with ARP or CP and 28 healthy controls. We analyzed clinical data and the sequences of the entire coding region and the intron-exon boundaries of the PRSS1 and SPINK1 genes from each patient.
Results: Fifteen (46.9%) of the 32 patients had at least 1 PRSS1 or SPINK1 mutation. Four (12.5%) of the 32 patients carried the p.N29I, p.R122H, or p.N29T mutation or a p.G208A variant of the PRSS1 gene in a heterozygote state. Eleven (34.4%) of the 32 patients carried either the IVS3 + 2T>C or p.N34S mutation of the SPINK1 gene. No PRSS1 or SPINK1 mutations were identified in the control group. In particular, mutations were identified in 4 of our patients who experienced pancreas divisum with CP, whereas the remaining 2 patients with pancreas divisum and ARP did not have mutation.
Conclusions: The frequencies of the PRSS1 and SPINK1 mutations are relatively high in Korean children with ARP or CP. Mutations in the PRSS1 and SPINK1 genes are highly associated with the development of childhood ARP or CP. Our findings suggest that patients with genetic mutations combined with pancreas divisum tend to develop CP early.