血友病的治疗进展_West China Medical Journal

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周敏 , 徐鸣

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Keywords：

血友病; 治疗

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CNKI: 51-1356/R.20120214.1655.053

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血友病是一组X连锁隐形遗传性出血性疾病,主要表现为自发性出血或外伤、手术后出血，反复关节肌肉出血可以致残，危险部位出血甚至威胁生命。替代治疗是血友病唯一有效的治疗方法，同时需要康复、理疗、护理、心理关怀等综合治疗。治疗理念已从出血后按需治疗发展为预防治疗，未来的发展方向将是基因检测阻断患者出生，长效凝血因子的输注以及基因治疗等，从而使患者彻底摆脱疾病的困扰。

Citation： 周敏,徐鸣. 血友病的治疗进展. West China Medical Journal, 2012, 27(2): 206-209. doi: CNKI: 51-1356/R.20120214.1655.053 Copy

1.	世界血友病联盟.血友病处理指南[M].蒙特利尔: 世界血友病联盟，2008: 45-46.
2.	丁秋兰,王学锋, 王鸿利, 等. 血友病诊断和治疗的专家共识[J]. 临床血液学杂志, 2010, 23(1): 49-53.
3.	Nilsson IM, Berntorp E, Lofqvist T, et al. Twenty five years’experience of prophylactic treatment in severe haemophilia A and B[J]. J Intern Med, 1992, 232(1): 25-32.
4.	Berntorp E, Astermark J, Bjorkman S, et al. Concensus perspectives on prophylactic therapy for hecmophilia: summary statement[J]. Haemophilia, 2003, 9(Suppl 1): 1-4．.
5.	Berntorp E, Boulyjenkow V ,Berttler D, et al. Modern treatment of haemophilia[J]. Bull world Health Orsan,1995, 73(5): 691-701．.
6.	National Hemophilia Foundation. Medical and Scientific Advisory Council (MASAC) recommendations and concerning prophylaxis[M]．New York: National Hemophilia Foundation. 1994: 197.
7.	Fisher K. The effects of postponing prophylaxisctic treatment on long-term outcome in patients with severe hemophilia[J]. Blood, 2002, 99(7): 2337-2341．.
8.	Manco-Johnson MJ, Riske B, Kasper CK. Advances in care of children with hemophilia[J]. Semin Thrombo Hemost, 2003, 29(6): 585-594．.
9.	吴润晖, 吴心怡, 冯涛, 等. 儿童血友病病人临床资料及现状分析[J]. 血栓与止血学, 2008, 14(3): 116-120．.
10.	Aledort L, Haschmeyer RH, Pettersson H. A longitudinal study of orthopaedic outcoraes for severe factor VIII-deftcient haemophiliacs[J]. J Intern Med, 1994, 236(4): 391-394.
11.	Kreuz W, Escuriola Ettingshausen C, Funk M, et al. Prevention of joint damage in hemophilic children with early prophylaxis[J]. Orthopade, 1999, 28(4): 341-346．.
12.	Fischer K, van der Bom JG, Molho P, et al. Prophylactic versus on-demand treatment strategies for Severe haemophilia: a comparison of coeta and long-term outcome[J]. Haemophilia, 2002, 8(6): 745-752．.
13.	Feldman BM，Pai M，Rivard GE，et al. Tailored prophylaxis In severe hemophilia A: interim result from the first 5 years of the Canadian Hemophilia Primary Prophylaxis Study[J]. J Thremb Haemost, 2006, 4(6): 1228-1236．.
14.	Risebrough N, Oh P, Blanchette V, et al. Cost-utility analysis of Canadian tailored prophylaxis, primary prophylaxis and on-demand therapy in young children with severe haemophilia A[J]. Haemophilia, 2008, 14(4): 743-752．.
15.	ter Avest PC, Fischer K, Mancuso ME, et al. Risk stratification for inhibitor development at first treatment for severe hemophilia A: a tool for clinical practice[J]. J Thromb Hanmost, 2008, 6(12): 2048-2054．.
16.	Bafimno V, Santacroce R, Chetta M, et al. Polymorphisms in genes involved in autoimmune disease and the risk of FVⅢ inhibitor development in Italian patients with haemophilia A[J]. Haemophilia, 2010, 16(3): 469-473.
17.	Morado M, Villar A, Jimtnez Yuste V, et al. Prophylactic treatment effects on inhibitor risk：experience in one centre[J]．Haemophilia, 2005, 11(2): 79-83．.
18.	Ragni MV, Ojeifo O, Feng J, et al. Risk factors for inhibitor formation in hemophilia: a prevalent case-control study[J]. Haemophilia, 2009, 15(5): 1074-1082．.
19.	Ahstrom J, Berntorp E, Lindvall K, et al. A 6-year follow-up of dosing，coagulation factor levels and bleedings in relation to joint status in the prophylactic treatment of haemophilia[J]. Haemophilia, 2004, 10(6): 689-697．.
20.	Valentino LA, Ismael Y, Grygotis M. Novel drugs to treat hemophilia[J]. Expert Opin Emerg Drugs, 2010, 15(4): 597-613.
21.	Turecek P, Scheifflinger F, Siekmann J, et al. Biochemical and functional characterization of PEGylated rVWF[J]. Blood, 2006, 108(11): 1021.
22.	Turecek P, Siekmann J, Gritsch H, et al. In vitro and in vivo characterization of full-length rFVIII modified with PEG via coupling to primary amino groups[J]. Blood, 2007, 110(11): 3147.
23.	Rottensteiner H, Turecek PL, Pendu R, et al. PEGylation or polysialylation reduces FⅧ binding to LRP resulting in prolonged half-life in murine models[J]. Blood, 2007, 110(11): 3150.
24.	Van Cott KE, Monahan PE, Nichols TC, et al. Haemophilic factors produced by transgenic livestock: abundance that can enable alternative therapies worldwide[J]. Haemophilia, 2004, 10(Suppl 4): 70-76.
25.	Kumaran V, Benten D, Follenzi A, et al. Transplantation of endothelial cells corrects the phenotype in hemophilia A mice[J]. J Thromb Haemost, 2005, 3(9): 2022-2031.
26.	Follenzi A, Benten D, Novikoff P, et al. Transplanted endothelial cells repopulate the liver endothelium and correct the phenotype of hemophilia A mice[J]. J Clin Invest, 2008, 118(3): 935-945.
27.	Margaritis P, Roy E, Aljamali MN, et al. Successful treatment of canine hemophilia by continuous expression of canine FⅦa[J]. Blood, 2009, 113(16): 3682-3689.
28.	Mátrai J, Chuah MK, VandenDriessche T. Preclinical and clinical progress in hemophilia gene therapy[J]. Curr Opin Hematol, 2010, 17(5): 387-92.
29.	Powell JS, Ragni MV, White GC II, et al. Phase 1 trial of FⅧgene transfer for severe hemophilia A using a retroviral construct administered by peripheral intravenous infusion[J]. Blood, 2003, 102(6): 2038-2045.

1. 世界血友病联盟.血友病处理指南[M].蒙特利尔: 世界血友病联盟，2008: 45-46.
2. 丁秋兰,王学锋, 王鸿利, 等. 血友病诊断和治疗的专家共识[J]. 临床血液学杂志, 2010, 23(1): 49-53.
3. Nilsson IM, Berntorp E, Lofqvist T, et al. Twenty five years’experience of prophylactic treatment in severe haemophilia A and B[J]. J Intern Med, 1992, 232(1): 25-32.
4. Berntorp E, Astermark J, Bjorkman S, et al. Concensus perspectives on prophylactic therapy for hecmophilia: summary statement[J]. Haemophilia, 2003, 9(Suppl 1): 1-4．.
5. Berntorp E, Boulyjenkow V ,Berttler D, et al. Modern treatment of haemophilia[J]. Bull world Health Orsan,1995, 73(5): 691-701．.
6. National Hemophilia Foundation. Medical and Scientific Advisory Council (MASAC) recommendations and concerning prophylaxis[M]．New York: National Hemophilia Foundation. 1994: 197.
7. Fisher K. The effects of postponing prophylaxisctic treatment on long-term outcome in patients with severe hemophilia[J]. Blood, 2002, 99(7): 2337-2341．.
8. Manco-Johnson MJ, Riske B, Kasper CK. Advances in care of children with hemophilia[J]. Semin Thrombo Hemost, 2003, 29(6): 585-594．.
9. 吴润晖, 吴心怡, 冯涛, 等. 儿童血友病病人临床资料及现状分析[J]. 血栓与止血学, 2008, 14(3): 116-120．.
10. Aledort L, Haschmeyer RH, Pettersson H. A longitudinal study of orthopaedic outcoraes for severe factor VIII-deftcient haemophiliacs[J]. J Intern Med, 1994, 236(4): 391-394.
11. Kreuz W, Escuriola Ettingshausen C, Funk M, et al. Prevention of joint damage in hemophilic children with early prophylaxis[J]. Orthopade, 1999, 28(4): 341-346．.
12. Fischer K, van der Bom JG, Molho P, et al. Prophylactic versus on-demand treatment strategies for Severe haemophilia: a comparison of coeta and long-term outcome[J]. Haemophilia, 2002, 8(6): 745-752．.
13. Feldman BM，Pai M，Rivard GE，et al. Tailored prophylaxis In severe hemophilia A: interim result from the first 5 years of the Canadian Hemophilia Primary Prophylaxis Study[J]. J Thremb Haemost, 2006, 4(6): 1228-1236．.
14. Risebrough N, Oh P, Blanchette V, et al. Cost-utility analysis of Canadian tailored prophylaxis, primary prophylaxis and on-demand therapy in young children with severe haemophilia A[J]. Haemophilia, 2008, 14(4): 743-752．.
15. ter Avest PC, Fischer K, Mancuso ME, et al. Risk stratification for inhibitor development at first treatment for severe hemophilia A: a tool for clinical practice[J]. J Thromb Hanmost, 2008, 6(12): 2048-2054．.
16. Bafimno V, Santacroce R, Chetta M, et al. Polymorphisms in genes involved in autoimmune disease and the risk of FVⅢ inhibitor development in Italian patients with haemophilia A[J]. Haemophilia, 2010, 16(3): 469-473.
17. Morado M, Villar A, Jimtnez Yuste V, et al. Prophylactic treatment effects on inhibitor risk：experience in one centre[J]．Haemophilia, 2005, 11(2): 79-83．.
18. Ragni MV, Ojeifo O, Feng J, et al. Risk factors for inhibitor formation in hemophilia: a prevalent case-control study[J]. Haemophilia, 2009, 15(5): 1074-1082．.
19. Ahstrom J, Berntorp E, Lindvall K, et al. A 6-year follow-up of dosing，coagulation factor levels and bleedings in relation to joint status in the prophylactic treatment of haemophilia[J]. Haemophilia, 2004, 10(6): 689-697．.
20. Valentino LA, Ismael Y, Grygotis M. Novel drugs to treat hemophilia[J]. Expert Opin Emerg Drugs, 2010, 15(4): 597-613.
21. Turecek P, Scheifflinger F, Siekmann J, et al. Biochemical and functional characterization of PEGylated rVWF[J]. Blood, 2006, 108(11): 1021.
22. Turecek P, Siekmann J, Gritsch H, et al. In vitro and in vivo characterization of full-length rFVIII modified with PEG via coupling to primary amino groups[J]. Blood, 2007, 110(11): 3147.
23. Rottensteiner H, Turecek PL, Pendu R, et al. PEGylation or polysialylation reduces FⅧ binding to LRP resulting in prolonged half-life in murine models[J]. Blood, 2007, 110(11): 3150.
24. Van Cott KE, Monahan PE, Nichols TC, et al. Haemophilic factors produced by transgenic livestock: abundance that can enable alternative therapies worldwide[J]. Haemophilia, 2004, 10(Suppl 4): 70-76.
25. Kumaran V, Benten D, Follenzi A, et al. Transplantation of endothelial cells corrects the phenotype in hemophilia A mice[J]. J Thromb Haemost, 2005, 3(9): 2022-2031.
26. Follenzi A, Benten D, Novikoff P, et al. Transplanted endothelial cells repopulate the liver endothelium and correct the phenotype of hemophilia A mice[J]. J Clin Invest, 2008, 118(3): 935-945.
27. Margaritis P, Roy E, Aljamali MN, et al. Successful treatment of canine hemophilia by continuous expression of canine FⅦa[J]. Blood, 2009, 113(16): 3682-3689.
28. Mátrai J, Chuah MK, VandenDriessche T. Preclinical and clinical progress in hemophilia gene therapy[J]. Curr Opin Hematol, 2010, 17(5): 387-92.
29. Powell JS, Ragni MV, White GC II, et al. Phase 1 trial of FⅧgene transfer for severe hemophilia A using a retroviral construct administered by peripheral intravenous infusion[J]. Blood, 2003, 102(6): 2038-2045.

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