Clinical and Experimental Pediatrics

대한소아청소년과학회 (The Korean Pediatric Society)
권호 표지

Cationic Trypsinogen N29I 유전자 변이에 의한 유전 췌장염 1례

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

  • 신지연 (서울대학교 의과대학 소아과학교실) ;
  • 오대성 (서울대학교 의과대학 소아과학교실) ;
  • 류정민 (서울대학교 의과대학 소아과학교실) ;
  • 심정옥 (서울대학교 의과대학 소아과학교실) ;
  • 박지숙 (서울대학교 의과대학 소아과학교실) ;
  • 고재성 (서울대학교 의과대학 소아과학교실) ;
  • 서정기 (서울대학교 의과대학 소아과학교실)
  • 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)
  • 투고 : 2006.06.23
  • 심사 : 2006.08.18
  • 발행 : 2006.10.15
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초록

유전성 췌장염은 비교적 젊은 연령에서 다른 이유 없이 반복적으로 급성 췌장염으로 나타나는데 나이가 들면서 만성 췌장염으로 이행된다. 동일 가계 내에 2세대 이상에 걸쳐서 3명 이상의 췌장염 환자가 있을 때 진단이 가능하며 이와 관련된 유전자로 trypsinogen을 만드는 PRSS1 유전자 변이(R122H, N29I)가 가장 대표적으로 알려져 있다. 저자들은 3세부터 반복적인 췌장염으로 입원 치료를 했던 15세 환아와 반복적 췌장염을 앓은 환아모, 환아 동생을 대상으로 CT 유전자의 exon 2, 3의 염기 서열을 분석하여 환아와 환아모에서 국내 처음으로 N29I 변이를 경험하였기에 보고하는 바이다.

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.

키워드

참고문헌

  1. Comfort M, Steinberg A. Pedigree of a family with hereditary chronic relapsing pancreatitis. Gastroenterology 1952;21:54-63
  2. 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 https://doi.org/10.1136/gut.44.2.259
  3. 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 https://doi.org/10.1016/S0025-7125(05)70240-6
  4. Perrault J, Hereditary pancreatitis. Gastroenterol Clin North Am 1994;23:743-52
  5. 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 https://doi.org/10.1038/ng1096-141
  6. 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 https://doi.org/10.1053/gast.1997.v113.pm9322498
  7. 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
  8. Mergener K, Bailie J. Chronic pancreatitis. Lancet 1997;350: 1379-85 https://doi.org/10.1016/S0140-6736(97)07332-7
  9. McElroy R, Christiansen PA. Hereditary pancreatitis in a kinship associated with portal vein thrombosis. Am J Med 1972;52:228-41 https://doi.org/10.1016/0002-9343(72)90072-1
  10. Fried AM, Selke AC. Pseudocyst formation in hereditary pancreatitis. J Pediatr 1978;93:950-3 https://doi.org/10.1016/S0022-3476(78)81217-7
  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. 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 https://doi.org/10.1053/gast.1997.v113.pm9322498
  13. 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 https://doi.org/10.1016/S0002-9343(01)00958-5
  14. Synn AY, Mulvihill SJ, Fonkalsrud EW. Surgical management of pancreatitis　in childhood. J Pediatr Surg 1987;22: 628-32 https://doi.org/10.1016/S0022-3468(87)80114-8
  15. 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 https://doi.org/10.1159/000048866
  16. Whitcomb DC. Hereditary pancreatitis : new insights into acute and chronic pancreatitis. Gut 1999;45:317-22 https://doi.org/10.1136/gut.45.3.317
  17. Charnley RM. Hereditary pancreatitis. World J Gastroenterol 2003;9:1-4 https://doi.org/10.3748/wjg.v9.i1.1
  18. Whitcomb DC. Value of genetic testing in the management of pancreatitis. Gut 2004;53:1710-7 https://doi.org/10.1136/gut.2003.015511
  19. Ellis I, Lerch MM, Whitcomb DC. Genetic testing for hereditary pancreatitis : guidelines for indications, counseling, consent and privacy issues. Pancreatology 2001;1: 405-15 https://doi.org/10.1159/000055840
  20. Ulrich CD : Pancreatic Cancer in Hereditary Pancreatitis: Consensus Guidelines for Prevention, Screening and Treatment. Pancreatology 2001;1:416-22 https://doi.org/10.1159/000055841