非亲缘脐血造血干细胞移植成功治疗WAS综合征2例报告
Successful Unrelated Umbilical Cord Blood Stem Cell Transplantation for Wiskott-Aldrich Syndrome in 2 Cases Report

目的：探讨非亲缘脐血干细胞移植术治疗Wiskott-Aldrich综合(Wiskott-Aldrich Syndrome, WAS)的临床疗效。方法：2例通过基因检测诊断的WAS综合征的患儿进行了非亲缘脐血干细胞移植术。预处理方案采用环磷酰胺、白消安、氟达拉滨、塞替派。预防移植物抗宿主病采用环孢素A、骁悉、甲氨蝶呤。输注有核细胞数分别为7.8 × 10⁷/kg、6.67 × 10⁷/kg；CD34+细胞数分别为8.32 × 10⁴/kg、6.67 × 10⁴/kg。结果：中性粒细胞绝对数 > 0.5 × 10⁹/L的天数分别为15、33天，未输注情况下，血小板 > 20 × 10⁹/L的天数为移植后30、45天，移植后28 d采用短串重复序列聚合酶链反应查植入证据均为供者独立植入。结论：非亲缘脐血造血干细胞移植可以有效治疗WAS综合征。
Purpose: To explore the clinical efficacy of unrelated umbilical cord blood stem cell transplantation for Wiskott-Aldrich syndrome. Method: Two patients were diagnosed with Wiskott-Aldrich syndrome by gene detection and received transplantation form unrelated umbilical cord blood stem cell. Two patients received a myelieblast conditioning with Cyclophosphamide, Busulfan, Fludarabine, Thiotepa. Cyclosporine A, Mycophenolate mofetil and Methotrexate were given to prophylaxis of graft versus host disease (GVHD). The doses of infused total nucleated cell (TNC) of two patients were 7.8 × 10⁷/kg and 6.67 × 10⁷/kg, respectively. The two patients’ CD34+ cells numbers were 8.32 × 10⁴/kg and 6.67 × 10⁴/kg, respectively. Result: The two patients had a successful engraftment, with 100% donor-derived cells by day 28 after transplantation. The time of absolute neutrophil count (ANC) > 0.5 × 10⁹/L of two patients was 15 and 30 days, respectively. The time of platelet count > 20 × 10⁹/L without transfusion was 30 and 45 days, respectively. Conclusion: The transplantation of umbilical cord blood stem cell from unrelated donor appears to be a feasible and effective strategy for further optimizing the outcome of HSCT for Wiskott-Aldrich syndrome.