Objective: To evaluate the outcomes of allogeneic hematopoietic stem cell transplantation（allo-HSCT）for paroxysmal nocturnal haemoglobinuria（PNH）and aplastic anemia（AA）- PNH syndrome.
Methods: The clinical data of 18 PNH or AA-PNH patients, including 4 classic PNH and 14 AA-PNH, received allo-HSCT from Dec 2007 to Feb 2015 were analyzed retrospectively. Nine patients received HLA-haploidentical donor HSCT（1 patient received salvage HLA-haploidentical donor HSCT after the graft failure of double cord blood transplantation）, 7 patients received HLA-identical sibling donor HSCT, and 2 HLA-identical unrelated donor HSCT. The conditioning regimens were as follow: 13 patients received modified BU/CY- based regimens, 5 non- myeloablative regimens ［fludarabine （Flu） + antithymocyte globulin（ATG）+ cyclophosphamide（CY）or busulfan（BU）］. Prophylaxis for graft- versushost disease（GVHD）: the patients with HLA-identical sibling donor received cyclosporine（CsA）plus short-term methotrexate（MTX）, the patients with HLA -haploidentical donor or HLA-identical unrelated donor received CsA or tacrolimus（FK506）+ mycophenolate mofetil（MMF）+ short- term methotrexate （MTX）.
Results: All patients were engrafted successfully（1 patient engrafted by haploidentical donor after the graft failure of double cord blood transplantation）. The median days of neutrophils（ANC）above 0.5 × 109/L and platelets （PLT） more than 20 × 10⁹/L were 11（10- 26）days and 15（11- 120）days, respectively. Three patients（17.6%）developed acute GVHD（aGVHD）, 2 for grade Ⅱ aGVHD, 1 for grade Ⅳ aGVHD. Of 16 patients, 2 occurred limited chronic GVHD（cGVHD）. After a median follow-up of 14.6（2.0-86.7）months, 3 patients（17.6%）died, out of which one died of severe aGVHD, one died of severe pulmonary infection, one pulmonary infection with transplant- associated thrombotic microangiopathy. The 5- year estimated disease free survival was（80.5 ± 10.2）%. No patient relapsed.
Conclusion: Allo-HSCT is an effective and curable therapy for PNH or AA-PNH with improved prognosis, and offers a valid therapeutic option for these patients before humanized monoclonal antibody against C5 are widely used clinically.
目的: 评价异基因造血干细胞移植（allo-HSCT）治疗阵发性睡眠性血红蛋白尿症（PNH）的疗效。
方法: 回顾性分析2007年12月至2015年2月间接受allo-HSCT治疗的18例PNH患者临床资料，其中原发PNH 4例，再生障碍性贫血-PNH综合征（AA-PNH）14例。9例为单倍体相同供者移植（其中1例为双份脐血植入失败后行挽救性单倍体相同供者移植），7例为HLA相合同胞供者移植，2例为HLA相合无关供者移植。13例患者接受改良白消安/环磷酰胺方案为主的清髓性预处理，5例接受非清髓性预处理（氟达拉滨+抗胸腺细胞球蛋白+环磷酰胺或白消安方案）。移植物抗宿主病（GVHD）预防：同胞供者移植为环孢素联合短程甲氨蝶呤，单倍体相同供者及无关供者移植为环孢素或他克莫司、霉酚酸酯联合短程甲氨蝶呤。
结果: 所有患者均获造血重建（其中1例患者脐血植入失败后行单倍体相同供者移植）。中性粒细胞绝对计数≥0.5×109/L的中位时间为移植后11（10~26）d，PLT恢复至≥20×109/L的中位时间为移植后15（11~120）d。3例（17.6%）患者发生急性GVHD（aGVHD），其中Ⅱ度2例，Ⅳ度1例。2例（12.5%）发生局限型慢性GVHD（cGVHD）。中位随访14.6（2.0～86.7）个月，18例患者中死亡3例（17.6%），死因分别为重度aGVHD、肺部重症感染、肺部感染合并移植相关血栓性微血管病。预期5年无病生存率为（80.5±10.2）%。无复发病例。
结论: allo-HSCT治疗PNH疗效确切，预后良好，在抗补体C5单抗尚未广泛应用的情况下，可作为有价值的治疗手段。