摘要
目的 观察异基因外周血造血干细胞移植治疗重型 β地中海贫血 (简称 β地贫 )的疗效和副作用。方法 1例 β地贫双重杂合子 (β17 IVS II 6 5 4突变点 )患儿经总量马利兰 2 0mg kg ,环磷酰胺 2 0 0mg kg、马法兰 90mg m2 和抗胸腺淋巴细胞球蛋白 90mg kg组成的方案预处理后 ,输入人类白细胞抗原 (HLA)相合的同胞供体外周血造血干细胞悬液 5 6ml。患儿获得的有核细胞数为 14.4× 10 8 kg,粒单系祖细胞 (CFU GM) 9.5× 10 5 kg,CD+3 4CD-3 8细胞数为 14.9× 10 6 kg。结果 患儿术后 13d时中性粒细胞绝对值 (ANC) >0 .5× 10 9 L ,40d时血小板 >2 0× 10 9 L ;术后 2 0d聚合酶链反向点杂交法(PCR RDB)检测患儿为供者型的 β17杂合子 ,性染色体核型从 46XX转变为 46XY(供者型 )。术后 2 0d起脱离红细胞输注 ,血红蛋白维持在 110g L以上 ,10 0d时复查骨髓细胞形态学正常 ,肝脾不大。 16d时出现急性移植物抗宿主病 (aGVHD)I度 ,经使用甲基强的松龙和泼尼松治疗 ,于 2 6d时aGVHD完全被控制。至今未发生慢性GVHD ,现已术后无病存活 475d。结论 异基因外周血造血干细胞移植治疗重型 β地贫患儿已获得成功。
Objective To observe the efficacy and side effects of allogeneic peripheral blood stem cells transplantation (Allo PBSCT) for the treatment of a patient with β thalassemia major. Methods After conditioning with chemotherapy consisting of busulfan 20 mg/kg, cyclophosphamide 200 mg/kg, melphalan 90 mg/m 2 and antithymocyte globulin (ATG) 90 mg/kg, the patient with β thalassemia of double heterozygosities (mutation sites at CD17 and IVS II 654) received 56 ml of PBSC which included 14.4×10 8/kg nucleated cells (NC), 9.5×10 5/kg colony forming unit granulocyte and macrophage (CFU GM) and 14.9×10 6/kg CD + 34 CD - 38 cells donated by the sibling with the identical HLA. Results The absolute nucleated cell (ANC) numbers reached 0.5×10 9/L 13 days post PBSCT. The platelet reached 20×10 9/L 40 days post PBSCT. The donor's heterozygosity of CD17 mutation site was only detected by the PCR RDB at the 20th day. The karyotype changed to 46XY (donor type) from 46XX post transplantation. The hemoglobin of the patient was kept over 110g/L without red blood cells transfusion from the 20th day post transplantation. Normal bone marrow cell morphology presented at the 100th day post PBSCT. The patient's liver and spleen did not enlarge. The acute graft versus host disease (aGVHD) of I° happened at the 16th day, and was controlled at the 26th day by treatments with methoprednisolone and prednisone. There was no chronic GVHD. The patient was free of the disease and survived for 475 days after Allo PBSCT.Conclusion The results showed that Allo PBSCT was successful in treating β thalassemia major. This is the 1st report on treatment of β thalassemia major with allo PBSCT in China.
出处
《中华儿科杂志》
CAS
CSCD
北大核心
2000年第9期560-563,共4页
Chinese Journal of Pediatrics
