造血干细胞移植治疗Wiskott-Aldrich综合征一例报告及文献复习

目的 Wiskott-Aldrich综合征(WAS)是一种原发性免疫缺陷性疾病,严重病例预后不良.采用人类白细胞抗原(HLA)全相合的同胞骨髓移植成功治疗1例,特此总结并进行文献复习.方法 采用流式细胞仪检测WAS蛋白(WASP)表达和基因分析确诊WAS.患儿姐姐为人类白细胞抗原全相合骨髓供者,所采集骨髓单个核细胞数为4.38×108/kg,CD34+细胞3.78×106/kg患儿体重.采用白消安/环磷酰胺全清髓的预处理方案,环孢菌素单用预防移植物抗宿主病.移植后检测WASP表达和短串联重复序列(STR)作为植入证据.结果 患儿诊断:WAS,WASP(-IVS9+2T>C,WASP阴性).白消安/环磷酰胺预处理后骨髓回输;移植13 d中性粒细胞(ANC)绝对值0.8×109/L,移植15 d起血小板>50×109/L,1个月后正常.移植50 d起患儿WASP表达阳性,STR显示为供者DNA完全嵌合;随访至移植后510 d,患儿健康,WASP稳定表达.结论 结合病例和文献复习,人类白细胞抗原相合同胞骨髓移植治疗典型WAS近期预后较好.

Successful treatment of a patient with Wiskott-Aldrich syndrome using hematopoietic stem cell transplantation - case report and literature review

Objective Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency diseases. The patients with classical WAS have poor prognosis. The hematopoietic stem cell transplantation is the most effective method to cure WAS at present. In this report, a patient with WAS was cured with HLA identical sibling bone marrow transplantation (BMT). Methods Wiskott-Aldrich syndrome protein (WASP) was detected using flow cytometry and WASP were analsized for the diagnosis. The bone marrow was collected from the elder sister who was the HLA identical sibling donor. A total of 4.38 × 108/kg mononuclear cell (MNC)and 3.78 × 106/kg CD34+ cells were collected and tranfused into the patient after the conditioning regimen with busulfan/cyclophosphamide. Cyclosporine only was used for graft-versus-host disease prophylaxis. WASP and short tandem repeats (STR) were detected as the evidence of engraftment. Results The diagnosis was WAS: WASP (-IVS9 + 2T > C, WASP-negative). The patient received busulfan/cyclophosphamide 9 days before the transplantation. WBC decreased to 0.1 × 109/L in d +4; The absolute number of neutrophils (ANC) was 0.8 × 109/L in d+13, and exceeded 1.0 × 109/L later on. From d-9-d +14 the patient was dependant on platelet transfusion. From d+15 the patient's PLT > 50 × 109/L and returned to normal after d+30. In d+9-d10 mild GVHD (Ⅰ degree) occurred but subsided after the steroid treatment From d50, WASP was detected positive and STR showed full donor DNA chimera. Follow-up for 510 d post-transplant, the patient suffered only from mild cold twice, no eczema, no bleeding occurred. The PLT is normal and no chwnic GVHD occurred . The levels of IgG, IgM and IgA of the patient were approximatly normal. Conclusion The HLA-identical sibling's BMT seems to be the periorit treatment of choice for the WAS patient.