目的总结异基因造血干细胞移植（allogeneic haploidentical hematopoietic stem cell transplantation,allo-HSCT）治疗Wiskott-Aldrich综合征1例的临床经验,评价后置环磷酰胺方案在allo-HSCT中的安全性及有效性。方法男性患儿,移植时年龄为6岁3个月,移植前第5天开始预处理化疗,采用氟达拉滨＋白消安＋抗胸腺球蛋白方案;移植方式为骨髓血＋外周血干细胞移植;预防移植物抗宿主病（graft-versus-host disease,GVHD）方案：兔抗人胸腺球蛋白2.5mg/kg,移植前5至移植前3天,并在移植后3天、4天予以40mg/kg环磷酰胺静脉滴注,予以短疗程甲氨蝶呤静脉滴注,移植后5天起予以环孢霉素A静脉滴注、口服马替麦考酚酯。干细胞均来自半相合的父亲。结果患儿于移植后16天中性粒细胞植活,移植后23天血小板植活,短串联重复序列结合聚合酶链反应检测显示为完全供者型嵌合。移植过程中无明显化疗相关毒性反应,无严重预处理相关并发症,未发生GVHD。移植后34天血小板达正常值。结论 allo-HSCT治疗Wiskott-Aldrich综合征效果确切,减低强度预处理方案可减少移植相关并发症,应用后置环磷酰胺方案可有效减少移植物抗宿主病。
Objective To report a case in WAS successfully engraftment after allogeneic haploidentical hematopoietic stem cell transplantation （allo-HSCT） and evaluate the clinical efficacy and safety of high doses of cyclophosphamide used in allo-HSCT for WAS. Method The patient is a 6years and 3-month-old boy at the time of transplantation. The reduced-intensity of Bu＋Flu＋ATG conditioning regimen in allo- HSCT for this patient was at 5 days before transplantion.Graft-versus-host disease（GVHD） prophylaxis： rabbit antithymocyte globulin 2.5mg/kg daily at 5 to 3 days before transplantation, short-course methotrexate, post transplantation high-dose cyclophosphamide on days ＋3 and ＋4 was followed by mycophenolate mofetil and cyclosporine. The donors were their HLA-haploidentical father. Result Neutrophil engraftment occurred on days 16 after transplantation,platelet engraftment occurred on day 23 after transplantation. Complete donor type engraftment was confirmed by Short Tandem Repeat-Polymerase Chain Reaction（STR-PCR） on day 23 after transplantation. No regimen-related toxicity occurred, GVHD and graft failure were not observed. 34 days after transplantation, the number of the platelet was increased to normal. Conclusion Allogeneic hematopoietic stem cell transplantation is an effective measure to treat patient with WAS.The reduced-intensity conditioning regimen was helpful to decrease the regimen-related toxicity. Post transplant cyclophosphamide approach successfully used and reduced the incidence of GVHD.
Chinese Journal of Medicine