Advances in Basic Research and Clinical Progress in Hereditary Pancreatitis_CHINESE JOURNAL OF BASES AND CLINICS IN GENERAL SURGERY

Authors：

TIAN Bo le , ZHANG Zhao da , LIU Xu bao

Department of General Surgery, West China Hospital, Sichuan University, Chengdu 610041, China;

Corresponding author：

Keywords：

Hereditary pancreatitis; Trypsinogen; Gene mutation; Pancreatic cancer; Therapy

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Objective To study the basic and clinical achievements in diagnosis and therapy of hereditary pancreatitis. Methods Related literatures of recent years were reviewed. Results Hereditary pancreatitis was a rare type of pancreatitis, with an estimated penetrance of 80%, and was believed to be caused by a mutation in the cationic trypsinogen gene. Patients with hereditary pancreatitis had a high frequency of pancreatic cancer.Conclusion The progress has been made on hereditary pancreatitis and has given us many useful suggestions for a better understanding about this difficult medical problem.

Citation： TIAN Bo le,ZHANG Zhao da,LIU Xu bao. Advances in Basic Research and Clinical Progress in Hereditary Pancreatitis. CHINESE JOURNAL OF BASES AND CLINICS IN GENERAL SURGERY, 2003, 10(6): 556-559. doi: Copy

1.	Ellis I, Amman R, Cavallini G, et al. Clinical and molecular findings of cationic trypsinogen mutations in 60 families with hereditary pancreatitis on the EUROPAC register [J]. Digestion, 2000; 61(4)∶300.
2.	Konzen KM, Perrault J, Moir C, et al. Longterm followup of young patients with chronic hereditary or idiopatic pancreatitis [J]. Mayo Clin Proc, 1993; 68（5）∶449.
3.	Mathew P, Wyllie R, Van Lente F, et al. Antioxidants in hereditary pancreatitis [J]. Am J Gastroenterol, 1996; 91(8)∶1558.
4.	Whitcomb DC, Gorry MC, Preston RA, et al. Hereditary pancreatitis is caused by a mutation in the cationic trypsinogen gene [J]. Nat Genet, 1996; 14（2）∶141.
5.	Creighton JE, Lyall R, Wilson DI, et al. Mutations of the cationic trypsinogen gene in patients with hereditary pancreatitis [J]. Br J Surg, 2000; 87（2）∶170.
6.	Keim V, Teich N, Mossner J. Trypsinogen mutations in hereditary pancreatitis: which nomenclature is convenient? [J]. Gut, 2000; 46(6)∶873.
7.	SahinToth M. Hereditary pancreatitisassociated mutation asn (21)→ile stablizes rat trypsinogen in vitro [J]. J Biol Chem, 1999; 274(42)∶29699.
8.	SahinToth M, Graf L, Toth M. Trypsinogen stablizition by mutation Arg117→His: a unifying pathomechanism for hereditary pancreatitis? [J]. Biochem Biophys Res Commun, 1999; 264(2)∶505.
9.	Witt H, Luck W, Becker M. A signal peptide cleavage site mutation in the cationic trypsinogen gene is strongly associated with chronic pancreatitis [J]. Gastroenterology, 1999; 117（1）∶7.
10.	Ferec C, Raguenes O, Salomon R, et al. Mutations in the cationic trypsinogen gene and evidence for genetic heterogeneity in hereditary pancreatitis [J]. J Med Genet, 1999; 36(3)∶228.
11.	Dasouki MJ, Cogan J, Summar ML, et al. Heterogeneity in hereditary pancreatitis [J]. Am J Med Genet, 1998; 77(1)∶47.
12.	Chen JM, Mercier B, Audrezet MP, et al. Mutational analysis of the human pancreatic secretory trypsin inhibitor(PSTI) gene in hereditary and spordic chronic pancreatitis [J]. J Med Genet, 2000; 37(1)∶67.
13.	Whitcomb D. Hereditary pancreatitis: new insights into acute and chronic pancreatitis [J]. Gut, 1999; 45(3)∶317.
14.	Uomo G, Manes G, Rabitti PG. Role of hereditary pancreatitis and CFTR gene mutations in the aetiology of acute relapsing pancreatitis of unknown origin. How are they important? [J]. JOP, 2001; 2(6)∶368.
15.	Creighton J, Lyall R, Wilson DI, et al. Mutations of the catinoic trypsinogen gene in patients with chronic pancreatitis [J]. Lancet, 1999; 354(9172)∶42.
16.	Truninger K, Koeck J, Arnold C. Trypsinogen gene mutations in familial, idiopathic and alcoholic chronic pancreatitis [J]. Gastroenterology, 1999; 116（4）∶A1170.
17.	Gorry MC, Gabbaizedeh D, Furey W, et al. Mutations in the cationic trypsinogen gene are associated with recurrent acute and chronic pancreatitis [J]. Gastroenterology, 1997; 113(4)∶1063.
18.	Lowenfels AB, Maisonneuve P, Cavallini G, et al. Pancreatitis and the risk of pancreatic cancer. International Pancreatitis Study Group [J]. N Engl J Med, 1993; 328（20）∶1433.
19.	Lowenfels AB, Maisonneuve P, DiMagno EP, et al. Hereditary pancreatitis and the risk of pancreatic cancer. International Hereditary Pancreatitis Study Group [J]. J Natl Cancer Inst, 1997; 19（6）∶442.
20.	Lowenfels AB, Maisonneuve P, Whitcomb DC. Risk factors for cancer in hereditary pancreatitis. International Hereditary Pancreatitis Study Group [J]. Med Clin North Am, 2000; 84（3）∶565.
21.	Whitcomb DC, Applebaum S, Martin SP. Hereditary pancreatitis and pancreatic carcinoma [J]. Ann N Y Acad Sci, 1999; 880∶201.
22.	Uomo G. Pancreatic head mass: how can we treat it? Acute pancreatitis: conservative management [J]. JOP, 2000; 1(3 Suppl)∶130.
23.	Uomo G, Talamini G, Rabitti PG. Antioxidant treatment in hereditary pancreatitis. A pilot study on three young patients [J]. Dig Liver Dis, 2001; 33(1)∶58.
24.	Sibert JR. Hereditary pancreatitis in England and Wales [J]. J Med Genet, 1978; 15(3)∶189.
25.	Howes N, Greenhalf W, Neoptolemos J. Screening for early pancreatic ductal adenocarcinoma in hereditary pancreatitis [J]. Med Clin North Am, 2000; 84(3)∶719.
26.	Beger HG, Warshaw AL, Buchler MW, et al. The pancreatitis. In: Tomsik H, Gress TM, Adler G. Hereditary pancreatitis [M]. 1st ed. Malden： Blackwell Science Ltd, 1998∶355-363.
27.	Sharer N, Schwarz M, Malone G, et al. Mutations of the cystic fibrosis gene in patients with chronic pancreatitis [J]. N Engl J Med, 1998; 339（10）∶645.
28.	Teich N, Mossner J, Keim V. Screening for mutation of the cationic trypsinogen gene: are they of relevance in chronic alcholic pancreatitis? [J]. Gut, 1999; 44（3）∶413.
29.	Whitcomb DC. The spectrum of complitions of hereditary pancreatitis. Is this a model for future gene therapy? [J]. Gastroenterology Clin North Am, 1999; 28（3）∶525.
30.	Gates LK Jr. Preventive strategies and therapeutic options for hereditary pancreatitis [J]. Med Clin North Am, 2000; 84（3）∶589.
31.	Perrault J. Hereditary pancreatitis. Historical perspectives [J]. Med Clin North Am, 2000; 84(3)∶519.
32.	Whitcomb D. The first international symposium on hereditary pancreatitis [J]. Pancreas, 1999; 18(1)∶1.

1. Ellis I, Amman R, Cavallini G, et al. Clinical and molecular findings of cationic trypsinogen mutations in 60 families with hereditary pancreatitis on the EUROPAC register [J]. Digestion, 2000; 61(4)∶300.
2. Konzen KM, Perrault J, Moir C, et al. Longterm followup of young patients with chronic hereditary or idiopatic pancreatitis [J]. Mayo Clin Proc, 1993; 68（5）∶449.
3. Mathew P, Wyllie R, Van Lente F, et al. Antioxidants in hereditary pancreatitis [J]. Am J Gastroenterol, 1996; 91(8)∶1558.
4. Whitcomb DC, Gorry MC, Preston RA, et al. Hereditary pancreatitis is caused by a mutation in the cationic trypsinogen gene [J]. Nat Genet, 1996; 14（2）∶141.
5. Creighton JE, Lyall R, Wilson DI, et al. Mutations of the cationic trypsinogen gene in patients with hereditary pancreatitis [J]. Br J Surg, 2000; 87（2）∶170.
6. Keim V, Teich N, Mossner J. Trypsinogen mutations in hereditary pancreatitis: which nomenclature is convenient? [J]. Gut, 2000; 46(6)∶873.
7. SahinToth M. Hereditary pancreatitisassociated mutation asn (21)→ile stablizes rat trypsinogen in vitro [J]. J Biol Chem, 1999; 274(42)∶29699.
8. SahinToth M, Graf L, Toth M. Trypsinogen stablizition by mutation Arg117→His: a unifying pathomechanism for hereditary pancreatitis? [J]. Biochem Biophys Res Commun, 1999; 264(2)∶505.
9. Witt H, Luck W, Becker M. A signal peptide cleavage site mutation in the cationic trypsinogen gene is strongly associated with chronic pancreatitis [J]. Gastroenterology, 1999; 117（1）∶7.
10. Ferec C, Raguenes O, Salomon R, et al. Mutations in the cationic trypsinogen gene and evidence for genetic heterogeneity in hereditary pancreatitis [J]. J Med Genet, 1999; 36(3)∶228.
11. Dasouki MJ, Cogan J, Summar ML, et al. Heterogeneity in hereditary pancreatitis [J]. Am J Med Genet, 1998; 77(1)∶47.
12. Chen JM, Mercier B, Audrezet MP, et al. Mutational analysis of the human pancreatic secretory trypsin inhibitor(PSTI) gene in hereditary and spordic chronic pancreatitis [J]. J Med Genet, 2000; 37(1)∶67.
13. Whitcomb D. Hereditary pancreatitis: new insights into acute and chronic pancreatitis [J]. Gut, 1999; 45(3)∶317.
14. Uomo G, Manes G, Rabitti PG. Role of hereditary pancreatitis and CFTR gene mutations in the aetiology of acute relapsing pancreatitis of unknown origin. How are they important? [J]. JOP, 2001; 2(6)∶368.
15. Creighton J, Lyall R, Wilson DI, et al. Mutations of the catinoic trypsinogen gene in patients with chronic pancreatitis [J]. Lancet, 1999; 354(9172)∶42.
16. Truninger K, Koeck J, Arnold C. Trypsinogen gene mutations in familial, idiopathic and alcoholic chronic pancreatitis [J]. Gastroenterology, 1999; 116（4）∶A1170.
17. Gorry MC, Gabbaizedeh D, Furey W, et al. Mutations in the cationic trypsinogen gene are associated with recurrent acute and chronic pancreatitis [J]. Gastroenterology, 1997; 113(4)∶1063.
18. Lowenfels AB, Maisonneuve P, Cavallini G, et al. Pancreatitis and the risk of pancreatic cancer. International Pancreatitis Study Group [J]. N Engl J Med, 1993; 328（20）∶1433.
19. Lowenfels AB, Maisonneuve P, DiMagno EP, et al. Hereditary pancreatitis and the risk of pancreatic cancer. International Hereditary Pancreatitis Study Group [J]. J Natl Cancer Inst, 1997; 19（6）∶442.
20. Lowenfels AB, Maisonneuve P, Whitcomb DC. Risk factors for cancer in hereditary pancreatitis. International Hereditary Pancreatitis Study Group [J]. Med Clin North Am, 2000; 84（3）∶565.
21. Whitcomb DC, Applebaum S, Martin SP. Hereditary pancreatitis and pancreatic carcinoma [J]. Ann N Y Acad Sci, 1999; 880∶201.
22. Uomo G. Pancreatic head mass: how can we treat it? Acute pancreatitis: conservative management [J]. JOP, 2000; 1(3 Suppl)∶130.
23. Uomo G, Talamini G, Rabitti PG. Antioxidant treatment in hereditary pancreatitis. A pilot study on three young patients [J]. Dig Liver Dis, 2001; 33(1)∶58.
24. Sibert JR. Hereditary pancreatitis in England and Wales [J]. J Med Genet, 1978; 15(3)∶189.
25. Howes N, Greenhalf W, Neoptolemos J. Screening for early pancreatic ductal adenocarcinoma in hereditary pancreatitis [J]. Med Clin North Am, 2000; 84(3)∶719.
26. Beger HG, Warshaw AL, Buchler MW, et al. The pancreatitis. In: Tomsik H, Gress TM, Adler G. Hereditary pancreatitis [M]. 1st ed. Malden： Blackwell Science Ltd, 1998∶355-363.
27. Sharer N, Schwarz M, Malone G, et al. Mutations of the cystic fibrosis gene in patients with chronic pancreatitis [J]. N Engl J Med, 1998; 339（10）∶645.
28. Teich N, Mossner J, Keim V. Screening for mutation of the cationic trypsinogen gene: are they of relevance in chronic alcholic pancreatitis? [J]. Gut, 1999; 44（3）∶413.
29. Whitcomb DC. The spectrum of complitions of hereditary pancreatitis. Is this a model for future gene therapy? [J]. Gastroenterology Clin North Am, 1999; 28（3）∶525.
30. Gates LK Jr. Preventive strategies and therapeutic options for hereditary pancreatitis [J]. Med Clin North Am, 2000; 84（3）∶589.
31. Perrault J. Hereditary pancreatitis. Historical perspectives [J]. Med Clin North Am, 2000; 84(3)∶519.
32. Whitcomb D. The first international symposium on hereditary pancreatitis [J]. Pancreas, 1999; 18(1)∶1.

CHINESE JOURNAL OF BASES AND CLINICS IN GENERAL SURGERY

Advances in Basic Research and Clinical Progress in Hereditary Pancreatitis

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