Schrezenmeier H, Körper S, Höchsmann B
Institut für Transfusionsmedizin, Institut für Klinische Transfusionsmedizin und Immungenetik Ulm, DRK-Blutspendedienst Baden-Württemberg - Hessen und Universitätsklinikum Ulm, Helmholtzstr. 10, 89081, Ulm, Deutschland,
Internist (Berl). 2015 Sep;56(9):989-99. doi: 10.1007/s00108-015-3662-7.
Aplastic anemia (AAI) is a rare life-threatening disorder which is characterized by bi- or tricytopenia and hypoplastic or aplastic bone marrow. AA can present as an acquired or congenital disorder. In recent years it was noted that a subgroup of patients with seemingly acquired AA with onset in adulthood carry mutations which cause or at least predispose to bone marrow failure, e.g. mutations in the genes of the telomerase complex. Options for first-line treatment are allogeneic stem cell transplantation or immunosuppression. The decision depends on severity of the disease, age and comorbidity of the patient and availability of a matched stem cell donor. Probability of survival after HLA-identical sibling transplantation exceeds 90% in young patients with bone marrow as the stem cell source and conditioning with an ATG-containing regimen. Results of matched unrelated donor transplantation have improved substantially over the last 10 years. Matched unrelated donor transplantation is increasingly considered as the first-line treatment for very young patients who are candidates for transplantation, but lack an HLA-identical sibling donor. The gold standard for immunosuppression is the combination of antithymocyte globulin (ATG) and cyclosporine A (CsA). ATG, a polyvalent antibody preparation, is obtained from animals after immunization with human thymocytes. Response rate and overall survival after horse ATG treatment are significantly higher compared to rabbit ATG. Recent trials reported a surprisingly high rate of bi- and trilinear response to treatment with the thrombopoietin receptor agonist eltrombopag in patients refractory to immunosuppression. Ongoing trials now address the potential role of eltrombopag as an adjunct to immunosuppression in first-line treatment.
再生障碍性贫血（AAI）是一种罕见的危及生命的疾病，其特征为两系或三系血细胞减少以及骨髓增生低下或再生障碍。AA可表现为获得性或先天性疾病。近年来，人们注意到，一部分成年期起病的看似获得性AA患者携带导致或至少易患骨髓衰竭的突变，例如端粒酶复合体基因的突变。一线治疗方案为异基因干细胞移植或免疫抑制。治疗决策取决于疾病的严重程度、患者的年龄和合并症以及是否有匹配的干细胞供体。对于以骨髓作为干细胞来源并采用含抗胸腺细胞球蛋白（ATG）方案进行预处理的年轻患者， HLA相同的同胞移植后的生存率超过90%。在过去10年中，匹配无关供体移植的结果有了显著改善。对于那些适合移植但缺乏HLA相同同胞供体的非常年轻的患者，匹配无关供体移植越来越被视为一线治疗方法。免疫抑制的金标准是抗胸腺细胞球蛋白（ATG）和环孢素A（CsA）联合使用。ATG是一种多价抗体制剂，是用人胸腺细胞免疫动物后获得的。与兔ATG相比，马ATG治疗后的缓解率和总生存率显著更高。最近的试验报告称，血小板生成素受体激动剂艾曲泊帕对免疫抑制难治的患者进行治疗时，双系和三系反应率出奇地高。正在进行的试验目前正在探讨艾曲泊帕作为一线治疗中免疫抑制辅助药物的潜在作用。
