遺傳性胰腺炎的基礎研究與臨床診治進展_《中國普外基礎與臨床雜志》

作者：

田伯樂 , 張肇達 , 劉續寶

四川大學華西醫院普外科（成都610041）;

關鍵詞：

遺傳性胰腺炎胰蛋白酶原基因突變胰腺癌治療

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目的探討遺傳性胰腺炎的基礎研究及其診斷與治療進展。方法對近年的有關文獻進行綜述。結果遺傳性胰腺炎是胰腺炎的一種罕見類型，是一種有80%外顯率的常染色體顯性遺傳病，其發病被認為是陽離子胰蛋白酶原基因突變所致，此類患者是胰腺癌的高發人群。結論有關遺傳性胰腺炎的研究取得了進展，這些研究為認識遺傳性胰腺炎這一醫學難題提供了許多有益的啟示。

引用本文： 田伯樂,張肇達,劉續寶. 遺傳性胰腺炎的基礎研究與臨床診治進展. 中國普外基礎與臨床雜志, 2003, 10(6): 556-559. doi: 復制

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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.

《中國普外基礎與臨床雜志》

遺傳性胰腺炎的基礎研究與臨床診治進展

摘要 全文 圖表 視頻 參考文獻 施引文獻 補充材料

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《中國普外基礎與臨床雜志》

遺傳性胰腺炎的基礎研究與臨床診治進展

摘要 全文 圖表 視頻 參考文獻 施引文獻 補充材料

Format

Content

摘要全文圖表視頻參考文獻施引文獻補充材料