HEREDITARY PANCREATITIS: FROM HISTORY TO NEW DISCOVERIES** Work was performed under Russian President grant for the state support of young Russian scientists - PhDs MK-508.2010.7


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Abstract

For decades, hereditary pancreatitis (HP) remained a rare disorder of the pancreas, and only genetic studies in the 1990s revealed the nature of inheritance, the type of mutation and classified the NP. It was found that HP is sufficiently broad and inhomogeneous nosological form, because in addition to the previously proposed and established first dominant mutation (cationic trypsinogen gene), many recessive mutations and polymorphisms in different genes predisposing to chronic pancreatitis were discovered. Further clinical studies have revealed features of clinical progression and diagnostic characters of different subtypes of HP with different genetic defects and mode of inheritance. The article presents basic data for the pathophysiology, diagnosis and treatment of HP, and new, previously unpublished in Russian, information.

References

  1. Маев И.В., Кучерявый Ю.А. Роль мутаций гена катионического трипсиногена (PRSS1-гена) в патогенезе хронического панкреатита // Клиническая медицина. 2004. № 10. С. 12-17.
  2. Маев И.В., Свиридова А.В., Кучерявый Ю.А. и др. Длительная заместительная ферментная терапия различными препаратами панкреатина у больных хроническим панкреатитом с экзокринной недостаточностью поджелудочной железы // Фарматека. 2011. № 2. С. 32-39.
  3. Пирогова А.И. Обмен цитокинов у больных хроническим панкреатитом: Автореф. дис. канд. мед. наук. М., 2003. 25с.
  4. Antonarakis S.E. Recommendations for a nomenclature system for human gene mutations. Hum Mutation 1998;11(1):1-3.
  5. Archer H, Jura N, Keller J, et al. A mouse model of hereditary pancreatitis generated by transgenic expression of R122H trypsinogen. Gastroenterology 2006;131(6):1844-55.
  6. Braganza JM, Lee SH, McCloy RF, et al. Chronic pancreatitis. Lancet 2011;377(9772):1184-97.
  7. Carbonell P, Glover G, Fernández JA, et al. Hereditary pancreatitis caused by a new mutation in the trypsinogen gene. Report of a family. Cir Esp 2006;79:252-54.
  8. Charnley RM. Hereditary pancreatitis. World J Gastroenterol 2003;9(1):1-4.
  9. Comfort MW., Steinberg AG. Pedigree of a family with hereditary chronic relapsing pancreatitis. Gastroenterology 1952;21:54-63.
  10. Cornet E, Dupon H, Hardy M, et al. Primary familial chronic pancreatitis with ectasia of the ducts (6 operated cases). J Chir (Paris) 1962;84:527-42.
  11. De las Heras-Castano G, Castro-Senosiain B, Fontalba A, et al. Hereditary pancreatitis: clinical features and inheritance characteristics of the R122C mutation in the cationic trypsinogen gene (PRSS1) in six Spanish families. JOP 2009;10(3):249-55.
  12. Derikx MH, Drenth JP. Genetic factors in chronic pancreatitis; implications for diagnosis, management and prognosis. Best Pract Res Clin Gastroenterol 2010;24(3):251-70.
  13. Georgilin T, Schnee М, Sagniez М, еt аl. Antioxidant status in patients with hereditary chronic pancreatitis (HCР) and alcoholics. Gastroenterology 1998;114(4):A461.
  14. Gerber BC. Hereditary pancreatitis. The role of surgical intervention. Arch Surg 1963;87:70-80.
  15. Gorry MC, Gabbaizedeh D, Furey W, et al. Mutations in the cationic trypsinogen gene are associated with recurrent acute and chronic pancreatitis. Gastroenterology 1997;113(4):1063-68.
  16. Gross JB, Gambill EE, Ulrich JA. Hereditary pancreatitis. Description of a fifth kindred and summary of clinical features. Am J Med 1962;33:358-64.
  17. Howes N, Lerch MM, Greenhalf W, et al. European Registry of Hereditary Pancreatitis and Pancreatic Cancer (EUROPAC). Clinical and genetic characteristics of hereditary pancreatitis in Europe. Clin Gastroenterol Hepatol 2004;2(3):252-61.
  18. http://www.uni-leipzig.de/pancreasmutation
  19. Le Bodic L, Bignon JD, Raguenes O, et al. The hereditary pancreatitis gene maps to long arm of chromosome 7. Hum Mol Genet 1996;5(4):549-54.
  20. Le Marechal С, Маssоn F, Chen JM, еt al. Hereditary раnсrеаtitis caused bу triрliсаtiоn of the trурsinоgеn locus. Nat Gеnеt 2006;38:1372-74.
  21. McElroy R, Christiansen PA. Hereditary pancreatitis in a kinship associated with portal vein thrombosis. Am J Med 1972;52(2):228-41.
  22. Moretti GE, Nussle D. A further family with hereditary chronic pancreatitis. Study on the pancreatic endocrine and exocrine functions. Schweiz Med Wochenschr 1971;101(17):602-608.
  23. Pfützer R, Myers E, Applebaum-Shapiro S, et al. Novel cationic trypsinogen (PRSS1) N29T and R122C mutations cause autosomal dominant hereditary pancreatitis. Gut 2002;50(2):271-72.
  24. Pitchumoni CS. Chronic pancreatitis: a historical and clinical sketch of the pancreas and pancreatitis. Gastroenterologist 1998;6(1):24-33.
  25. Rebours V, Boutron-Ruault MC, Schnee M, et al. Risk of pancreatic adenocarcinoma in patients with hereditary pancreatitis: a national exhaustive series. Am J Gastroenterol 2008;103(1):111-19.
  26. Robechek PJ. Hereditary chronic relapsing pancreatitis. A clue to pancreatitis in general? Am J Surg 1967;113(6):819-24.
  27. Rowen L, Koop BF, Hood L. The complete 685-kilobase DNA sequence of the human beta T cell receptor locus. Science 1996;272(5269):1755-62.
  28. Sarles H. Chronic calcifying pancreatitis - chronic alcoholic pancreatitis. Gastroenterology 1974;66(4):604-16.
  29. Sarles H, Cambon P, Choux R, et al. Chronic obstructive pancreatitis due to tiny (0,6 to 8 mm) benign tumors obstructing pancreatic ducts: report of three cases. Pancreas 1988;3(2):232-237.
  30. Schneider A, Lohr JM, Singer MV. The M-ANNHEIM classification of chronic pancreatitis: introduction of a unifying classification system based on a review of previous classifications of the disease. J Gastroenterol 2007;42(2):101-19.
  31. Sibert JR. Hereditary pancreatitis in England and Wales. J Med Genet 1978;15(3):189-201.
  32. Simon P, Weiss FU, Sahin-Toth M, et al. Hereditary pancreatitis caused by a novel PRSS1 mutation (Arg-122 --> Cys) that alters autoactivation and autodegradation of cationic trypsinogen. J Biol Chem 2002;277(7):5404-10.
  33. Uomo G, Talamini G, Rabitti G. Antioxidant treatment in hereditary pancreatitis. A pilot study of three young patients. Dig Liver Dis 2001;33(1):58-62.
  34. Whitcomb DC, Preston RA, Aston CE, et al. A gene for hereditary pancreatitis maps to chromosome 7q35. Gastroenterology 1996;110(6):1975-80.
  35. Whitcomb DС, Gorry МС, Preston RA, et аl. Hereditary pancreatitis is caused by а mutation of cationic trypsinogen gene. Nat Genet 1996;14(2):141-45.

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