Hematology Branch, NHLBI, NIH, Bethesda, Maryland, USA.
Biol Blood Marrow Transplant. 2010 Jan;16(1 Suppl):S119-25. doi: 10.1016/j.bbmt.2009.09.013. Epub 2009 Sep 24.
An immune basis for most patients with aplastic anemia (AA) provides a rationale for immunosuppressive therapy (IST), using antithmyocyte globulin and cyclosporine as one therapeutic modality; hematologic response is observed in up to 75% of patients. Recent advances in understanding the pathogenesis of AA have identified defective telomere maintenance as an important explanation for the onset of marrow failure, relapse and clonal evolution after IST, in some patients with AA. The finding of inherited mutations in the telomerase gene complex in patients with apparent acquired AA has important implications for clinical management. Hematopoietic stem cell transplantation (HSCT) for acquired AA, whether from an HLA identical sibling or an unrelated donor, provides an excellent chance of long term cure. Current issues with HSCT include graft rejection, chronic GVHD and poor outcome in older patients. The lack of a suitable bone marrow donor for all patients who need a transplant, illustrates the need for novel transplant procedures, such as cord blood transplantation.
大多数再生障碍性贫血（AA）患者存在免疫发病机制，这为免疫抑制治疗（IST）提供了理论依据，常用的治疗药物有抗胸腺细胞球蛋白和环孢素；多达 75%的患者可获得血液学缓解。AA 发病机制的最新研究进展表明，端粒维持缺陷是 IST 后骨髓衰竭、复发和克隆演变的重要原因，在部分 AA 患者中可观察到这种现象。在表现为获得性 AA 的患者中发现端粒酶基因复合物的遗传突变，这对临床管理具有重要意义。对于获得性 AA，无论是来自 HLA 完全匹配的同胞供者还是无关供者，造血干细胞移植（HSCT）都为长期治愈提供了极好的机会。目前 HSCT 存在移植物排斥、慢性移植物抗宿主病和老年患者预后不良等问题。对于所有需要移植的患者，缺乏合适的骨髓供者，这说明了需要新的移植程序，例如脐带血移植。
