Browse > Article

A case of hereditary pancreatitis with a N29I mutation in the cationic trypsinogen gene  

Shin, Jee Youn (Department of Pediatrics, College of Medicine, Seoul National University)
Oh, Dae Sung (Department of Pediatrics, College of Medicine, Seoul National University)
Rheu, Jeong Min (Department of Pediatrics, College of Medicine, Seoul National University)
Shim, Jeong Ok (Department of Pediatrics, College of Medicine, Seoul National University)
Park, Ji Sook (Department of Pediatrics, College of Medicine, Seoul National University)
Ko, Jae Sung (Department of Pediatrics, College of Medicine, Seoul National University)
Seo, Jeong Kee (Department of Pediatrics, College of Medicine, Seoul National University)
Publication Information
Clinical and Experimental Pediatrics / v.49, no.10, 2006 , pp. 1111-1115 More about this Journal
Abstract
Hereditary pancreatitis is an autosomal dominant disease characterized by recurrent episodes of pancreatitis, often beginning in childhood, with a positive family history involving at least two other affected family members with no known other precipitating factors. Most forms of hereditary pancreatitis are caused by one of two common mutations, i.e., R122H in exon 3 and N29I in exon 2 of the cationic trypsinogen (CT) (PRSS1) gene, located on chromosome 7. The authors describe the case of a 15-year-old boy who had suffered from recurrent attacks of pancreatitis since age three. His mother and grandmother had chronic pancreatitis and diabetes mellitus. Mutation analysis was performed on the family due to the suspicion of hereditary pancreatitis. The CT gene was analyzed in DNA samples extracted from the peripheral blood of three family members, the mother, the proband, and the proband's sister. Two members of the family, the mother and the proband, were found to have a N29I mutation in the CT gene. The authors document the first family with hereditary pancreatitis associated with the N29I mutation in Korea.
Keywords
Hereditary pancreatitis; Cationic trypsinogen; Korean;
Citations & Related Records
연도 인용수 순위
  • Reference
1 Keim V, Bauer N, Teich N, Simon P, Lerch MM, Mossner J. Clinical Characterizationof patients with hereditary pancreatitis and mutations in the cationic trypsinogen gene. Am J Med 2001;111:622-6   DOI   ScienceOn
2 Charnley RM. Hereditary pancreatitis. World J Gastroenterol 2003;9:1-4   DOI
3 Whitcomb DC. Hereditary pancreatitis : new insights into acute and chronic pancreatitis. Gut 1999;45:317-22   DOI   ScienceOn
4 Tautermann G, Ruebsamen H, Beck M, Dertinger S, Drexel H, Lohse P. R116C mutation of cationic trypsinogen in a Turkish family with recurrent pancreatitis illustrates genetic microheterogeneity of pancreatitis. Digestion 2001;64: 226-32   DOI   ScienceOn
5 Ellis I, Lerch MM, Whitcomb DC. Genetic testing for hereditary pancreatitis : guidelines for indications, counseling, consent and privacy issues. Pancreatology 2001;1: 405-15   DOI   ScienceOn
6 Mergener K, Bailie J. Chronic pancreatitis. Lancet 1997;350: 1379-85   DOI   ScienceOn
7 Nishimori I, Kamakura M, Fujikawa-Adachi K, Morita M, Onishi S, Yokoyama K, et al. Mutations in exons 2 and 3 of the cationic trypsinogen gene in Japanese families with hereditary pancreatitis. Gut 1999;44:259-63   DOI   ScienceOn
8 Gorry M, Gabbaizadeh D, FureyW, Gates LK Jr, Preston RA, Aston CE et al.Mutations in the cationic trypsinogen gene are associated with hereditary pancreatitis. Gastroenterology 1997;113:1063-8   DOI   ScienceOn
9 Ulrich CD : Pancreatic Cancer in Hereditary Pancreatitis: Consensus Guidelines for Prevention, Screening and Treatment. Pancreatology 2001;1:416-22   DOI   ScienceOn
10 Gorry MC, Gabbaizedeh D, Furey W, Gates LK Jr, Preston RA, Aston CE, et al. Mutations in the cationic trypsinogen gene are associated with recurrent acute and chronic pancreatitis. Gastroenterology 1997;113:1063-8   DOI   ScienceOn
11 Sossenheimer MJ, Aston CE, Preston RA, Gates LK Jr, Ulrich CD, Martin SP, et al. Clinical characteristics of hereditary pancreatitis in a large family based on high-risk haplotype. The Midwest Multicenter Pancreatic Study Group (MMPSG.) Am J Gastroenterol 1997;92:1079-80
12 Comfort M, Steinberg A. Pedigree of a family with hereditary chronic relapsing pancreatitis. Gastroenterology 1952;21:54-63
13 Whitcomb DC, Gorry MC, Preston RA, Furey W, Sossenheimer MJ, Ulrich CD, et al. Hereditary pancreatitis is caused by a mutation in the cationic trypsinogen gene. Nat Genet 1996;14:141-5   DOI   ScienceOn
14 Fried AM, Selke AC. Pseudocyst formation in hereditary pancreatitis. J Pediatr 1978;93:950-3   DOI
15 Perrault J, Hereditary pancreatitis. Gastroenterol Clin North Am 1994;23:743-52
16 Synn AY, Mulvihill SJ, Fonkalsrud EW. Surgical management of pancreatitis　in childhood. J Pediatr Surg 1987;22: 628-32   DOI   ScienceOn
17 Whitcomb DC. Value of genetic testing in the management of pancreatitis. Gut 2004;53:1710-7   DOI   ScienceOn
18 Kim JY, Choi SH, Ihm JS, Kim SJ, Kim IJ, Kim CM. A case of R122H mutation of cationic trypsinogen gene in a pediatric patient with hereditary pancreatitis complicated by pseudocyst and hemosuccus pancreatitsi. Korean J Gastroenterol 2005;45:130-6
19 McElroy R, Christiansen PA. Hereditary pancreatitis in a kinship associated with portal vein thrombosis. Am J Med 1972;52:228-41   DOI   ScienceOn
20 Lowenfels AB, Maisonneuve P, Whitcomb DC. Risk factors for cancer in hereditary pancreatitis. International Hereditary pancreatitis study group. Med Clin North Am 2000; 84:565-73   DOI