血友病的治疗现状与研究进展
摘要
<正>血友病是一组由基因突变导致凝血因子缺乏而引起的出血性疾病。流行病学调查结果显示,我国24个省市血友病患病率为2.73/10万,而登记患者只占约5%[1]。受多种因素影响,国内大部分血友病患者未得到及时、全面的诊治,或存在误诊,导致30岁以上血友病患者关节畸形发生率高达70%[2]。随着对血友病及其并发症的认识逐步加深,其治疗方法取得
引文
[1]POON MC,LUKE KH.Haemophilia care in China:achievements of a decade of World Federation of Hemophilia treatment centre twinning activities[J].Haemophilia,2008,14(5):879-888.
[2]杨仁池.我国血友病诊治现状与展望[J].中国实用内科杂志,2008,28(10):811-813.
[3]王天有,吴润晖.迈进儿童血友病关怀新时代[J].中国实用儿科杂志,2017,34(1):18-22.
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[6]GRINGERI A,EWENSTEIN B,REININGER A.The burden of bleeding in haemophilia:is one bleed too many[J].Haemophilia,2014,20(4):459-463.
[7]VALENTINO LA,MAMONOV V,HELLMANN A,et al.Arandomized comparison of two prophylaxis regimens and a paired comparison of on-demand and prophylaxis treatments in hemophilia A management[J].J Thromb Haemost,2012,10(3):359-367.
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[13]CAVIGLIA HA,FERNANDEZ-PALAZZI F,GALATRO G,et al.Chemical synoviorthesis with rifampicin in haemophilia[J].Haemophilia,2010,7(Suppl2):S26-30.
[14]姚志鹏,林佳俊,刘文革,等.人工关节置换术治疗晚期血友病性关节炎[J].中国骨与关节损伤杂志,2018,31(6):756-757.
[15]MARWAHA N.Transfusion related complications in hemophilia[J].Asian J Transfus Sci,2013,7(1):6-7.
[16]张美英,杨朝辉,王刚.血友病性关节肌肉疾病的康复评定与治疗[J].中国康复医学杂志,2015,30(6):623-627.
[17]PEYVANDI F,GARAGIOLA I,YOUNG G.The past and future of haemophilia:diagnosis,treatments,and its complications[J].Lancet,2016,388(140):187-197.
[18]IORIO A,HALIMEH S,HOLZHAUER S,et al.Rate of inhibitor development in previously untreated hemophilia A patients treated with plasma-derived or recombinant factorⅧconcentrates:a systematic review[J].J Thromb Haemost,2010,8(6):1256-1265.
[19]冯晓勤.儿童血友病抑制物管理[J].中国实用儿科杂志,2017,34(1):31-34.
[20]COLLINS PW,MATHIAS M,HANLEY J,et al.Rituximab and immune tolerance in severe hemophilia A:a consecutive national cohort[J].J Thromb Haemost,2009,7(5):787-794.
[21]NATHWANI AC,REISS UM,TUDDENHAM EG,et al.Longterm safety and efficacy of factorⅨgene therapy in hemophilia B[J].N Engl J Med,2014,371(21):1994-2004.
[22]SHEN YJ,YIN J.The treatment of hemophilia A:from protein replacement to AAV-mediated gene therapy[J].Biotechnol Lett,2009,31(3):321-328.
[23]JOHNSTON JM,DENNING G,DOERING CB,et al.Generation of an optimized lentiviral vector encoding a high-expression factorⅧtransgene for gene therapy of hemophilia A[J].Gene Ther,2013,20(6):607-615.
[24]王嫱,张琳,陈赛娟.基因治疗:现状与展望[J].中国基础科学,2017,19(4):21-27.
[25]KREN BT,UNGER GM,SJEKLOCHA L,et al.Nanocapsule-delivered Sleeping Beauty mediates therapeutic factorⅧexpression in liver sinusoidal endothelial cells of hemophilia A mice[J].J Clin Invest,2009,119(7):2086-2099.
[2]杨仁池.我国血友病诊治现状与展望[J].中国实用内科杂志,2008,28(10):811-813.
[3]王天有,吴润晖.迈进儿童血友病关怀新时代[J].中国实用儿科杂志,2017,34(1):18-22.
[4]SRIVASTAVA A,BREWER AK,MAUSER-BUNSCHOTENEP,et al.Guidelines for the management of hemophilia[J].Haemophilia,2013,19(1):1-47.
[5]FISCHER K,CARLSSON KS,PETRINI PA,et al.Intermediatedose versus high-dose prophylaxis for severe hemophilia:comparing outcome and costs since the 1970s[J].Blood,2013,122(7):1129-1136.
[6]GRINGERI A,EWENSTEIN B,REININGER A.The burden of bleeding in haemophilia:is one bleed too many[J].Haemophilia,2014,20(4):459-463.
[7]VALENTINO LA,MAMONOV V,HELLMANN A,et al.Arandomized comparison of two prophylaxis regimens and a paired comparison of on-demand and prophylaxis treatments in hemophilia A management[J].J Thromb Haemost,2012,10(3):359-367.
[8]VALENTINO LA.Considerations in individualizing prophylaxis in patients with haemophilia A[J].Haemophilia,2014,20(5):607-615.
[9]HILLIARD P,ZOURIKIAN N,BLANCHETTE V,et al.Musculoskeletal health of subjects with hemophilia A treated with tailored prophylaxis:Canadian Hemophilia Primary Prophylaxis(CHPS)Study[J].J Thromb Haemost,2013,11(3):460-466.
[10]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.
[11]KANNICHT C,RAMSTROM M,KOHLA GA,et al.Characterisation of the post-translational modifications of a novel,human cell line-derived recombinant human factorⅧ[J].Thromb Res,2013,131(1):78-88.
[12]田京,孙季萍.血友病性关节炎治疗进展[J].国际骨科学杂志,2009,30(2):98-100.
[13]CAVIGLIA HA,FERNANDEZ-PALAZZI F,GALATRO G,et al.Chemical synoviorthesis with rifampicin in haemophilia[J].Haemophilia,2010,7(Suppl2):S26-30.
[14]姚志鹏,林佳俊,刘文革,等.人工关节置换术治疗晚期血友病性关节炎[J].中国骨与关节损伤杂志,2018,31(6):756-757.
[15]MARWAHA N.Transfusion related complications in hemophilia[J].Asian J Transfus Sci,2013,7(1):6-7.
[16]张美英,杨朝辉,王刚.血友病性关节肌肉疾病的康复评定与治疗[J].中国康复医学杂志,2015,30(6):623-627.
[17]PEYVANDI F,GARAGIOLA I,YOUNG G.The past and future of haemophilia:diagnosis,treatments,and its complications[J].Lancet,2016,388(140):187-197.
[18]IORIO A,HALIMEH S,HOLZHAUER S,et al.Rate of inhibitor development in previously untreated hemophilia A patients treated with plasma-derived or recombinant factorⅧconcentrates:a systematic review[J].J Thromb Haemost,2010,8(6):1256-1265.
[19]冯晓勤.儿童血友病抑制物管理[J].中国实用儿科杂志,2017,34(1):31-34.
[20]COLLINS PW,MATHIAS M,HANLEY J,et al.Rituximab and immune tolerance in severe hemophilia A:a consecutive national cohort[J].J Thromb Haemost,2009,7(5):787-794.
[21]NATHWANI AC,REISS UM,TUDDENHAM EG,et al.Longterm safety and efficacy of factorⅨgene therapy in hemophilia B[J].N Engl J Med,2014,371(21):1994-2004.
[22]SHEN YJ,YIN J.The treatment of hemophilia A:from protein replacement to AAV-mediated gene therapy[J].Biotechnol Lett,2009,31(3):321-328.
[23]JOHNSTON JM,DENNING G,DOERING CB,et al.Generation of an optimized lentiviral vector encoding a high-expression factorⅧtransgene for gene therapy of hemophilia A[J].Gene Ther,2013,20(6):607-615.
[24]王嫱,张琳,陈赛娟.基因治疗:现状与展望[J].中国基础科学,2017,19(4):21-27.
[25]KREN BT,UNGER GM,SJEKLOCHA L,et al.Nanocapsule-delivered Sleeping Beauty mediates therapeutic factorⅧexpression in liver sinusoidal endothelial cells of hemophilia A mice[J].J Clin Invest,2009,119(7):2086-2099.