遗传性骨髓衰竭综合征的造血干细胞移植治疗
李倩;陈静;
摘要(Abstract)：
<正>异基因造血干细胞移植(hematopoietic stem cell transplantation,HSCT)是目前根治遗传性骨髓衰竭综合征(inherited bone marrow failure syndrome,IBMFS)的唯一方法。但该治疗方法往往伴随一系列治疗相关并发症和晚期毒副反应。因此,所有IBMFS患者在接受HSCT治疗前都应合理评估,个体化权衡移植治疗的收益及风险,包括移植指征、供
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作者(Author): 李倩;陈静;
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参考文献(References)：
- 1.Alter BP.Diagnosis,genetics and management of inherited bone marrow failure syndromes.Hematology Am Soc Hematol Educ Program,2007:29-39.
- 2.Castella M,Pujol R,Callen E,et al.Origin,functional role and clinical impact of Fanconi anemia FANCA mutation.Blood,2011,117:3759-3769.
- 3.Ballew BJ,Savage SA.Updates on the biology and management of dyskeratosis congenita and related telomere biology disorders.Expert Rev Hematol,2013,6:327-337.
- 4.Shimamura A.Inherited bone marrow failure syndromes:molecular features.Hematology Am Soc Hematol Educ Program 2006,1:63-71.
- 5.Park M,Lee YH,Kang HR,et al.Unrelated donor cord blood transplantation for non-malignant disorders in children and adolescents.Pediatr Transplant,2014,18:221-229.
- 6.Locatelli F,Zecca M,Pession A,et al.The outcome of children with Fanconi anemia given hematopoietic stem cell transplantation and the influence of fludarabine in the conditioning regimen:a report from the Italian pediatric group.Haematologica,2007,92:1381-1388.
- 7.Vlachos A,Muir E.How I treat Diamond-Blackfan anemia.Blood,2010,116:3715-3723.
- 8.Amarasinghe K,Dalley C,Dokal I,et al.Late death after unrelatedBMT for dyskeratosis congenita following conditioning with alemtuzumab fludarabine and melphalan.Bone Marrow Transplant,2007.40:913-914.
- 9.Cesaro S,Oneto R,Messina C,et al.Haematopoietic stem cell transplantation for Shwachman-Diamond disease:a study from the European Group for blood and marrow transplantation.Br J Haematol,2005,131:231-236.
- 10.Peffault de Latour R,Peters C,Gibson B,et al.Recommendations on hematopoietic stem cell transplantation for inherited bone marrow failure syndromes.Bone Marrow Transplant,2015,50:1168-1172.
- 11.Gluckman E,Wagner JE.Hematopoietic stem cell in childhood inherited bone marrow failure syndrome.Bone Marrow T ransplant,2008,41:127-32.
- 12.Peff'ault de Latour R,Porcher R,Dalle JH,et al.Allogeneic hematopoietic stem cell transplantation in Fanconi anemia:the European group for blood and marrow transplantation experience.Blood,2013,122:4279-4286.
- 13.Baeigalupo A,Socie G,Lanino E,et al.Fludarabine,cyclophosphamide,antithymocyte globulin,with or without low dose total bodyirradiation,for alternative donor transplants,in acquired severe aplastie anemia:a retrospective study from the EBMT-SAA Working Party.Haematologica,2010,95:976-982.
- 14.Li Q,Luo C,Luo C,et al.Disease-specific hematopoietic stem cell transplantation in children with inherited bone marrow failure syndromes.Ann Hematol,2017,96:1389-1397.
- 15.Benajiba L,Salvado C,Dalle JH,et al.HLA-matched related-donor HSCT in Fanconi anemia patients conditioned with cylophosphamide and fludarabine.Blood,2015,125:417-418.
- 16.Talbot A,Peffault de Latour R,Raffoux E,el al.Sequential Ireatment for allogeneic hematopoietic stem cell transplantation in Fanconi anemia with acute myeloid leukemia.Haematologica,2014,99:e199-e200.
- 17.Fagioli F,Quarello P,Zecca M,et al.Haematopoielic stem cell transplantation for Diamond Blackfan anaemia:a report from the Italian Association of Paediatric Haematology and Oncology Registry.Br J Haematol,2014,165:673-681.
- 18.Slatter MA,Boztug H,P(o|¨)tschger U,et al.Treosulfan-based conditioning regimens for allogeneic haematopoietic stem cell transplantation in children with non-malignant diseases.Bone Marrow Transplant,2015,50:1536-1541.
- 19.Fernández García MS,Teruya-Feldstein J.The diagnosis and treatment of dyskeratosis congenita:a review.J Blood Med,2014,5:157-167.
- 20.Amarasinghe K,Dalley C,Dokal I,et al.Late death after unrelated-BMT for dyskeratosis congenita following conditioning with alemtuzumab,fludarabine and melphalan.Bone Marrow Transplant,2007.40:913-914.
- 21.Cesaro S,Oneto R,Messina C,el al.Haematopoietic stem cell transplantation for Shwachman-Diamond disease:a study from the European Group for blood and marrow transplantation.Br J Haematol,2005,131:231-236.
- 22.Bhatla D,Davies,Shenoy S,et al.Reduced-intensity conditioning is effective and safe for transplantation of patients with ShwachmanDiamond syndrome.Bone Marrow Transplantation,2008,42:159-165.