title: High incidence of PRSS1 and SPINK1 mutations in Korean children with acute recurrent and chronic pancreatitis.
abstract: OBJECTIVE
  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).
  
  
  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.
authors.affiliation: Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.
authors.forename: Yeoun Joo
authors.initials: YJ
authors.lastname: Lee
authors.forename: Kyung Mo
authors.initials: KM
authors.lastname: Kim
authors.forename: Jin Ho
authors.initials: JH
authors.lastname: Choi
authors.forename: Beom Hee
authors.initials: BH
authors.lastname: Lee
authors.forename: Gu-Hwan
authors.initials: GH
authors.lastname: Kim
authors.forename: Han-Wook
authors.initials: HW
authors.lastname: Yoo
mesh_terms: D000293:Adolescent; D002352:Carrier Proteins / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D015529:Choledochal Cyst / Q000150:complications / Q000235:genetics; D004065:Digestive System Abnormalities / Q000150:complications / Q000235:genetics; D005260:Female; D042882:Gallstones / Q000150:complications / Q000235:genetics; D005787:Gene Frequency; D056726:Genetic Association Studies; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D020125:Mutation, Missense; D010183:Pancreatic Ducts / Q000002:abnormalities; D010195:Pancreatitis / Q000150:complications / Q000235:genetics*; D050500:Pancreatitis, Chronic / Q000150:complications / Q000235:genetics; D056910:Republic of Korea; D014357:Trypsin / Q000235:genetics*; D014359:Trypsin Inhibitor, Kazal Pancreatic
chemical_list: D002352:Carrier Proteins; C486642:SPINK1 protein, human; D014359:Trypsin Inhibitor, Kazal Pancreatic; C489303:PRSS1 protein, human; D014357:Trypsin