异基因造血干细胞移植治疗阵发性睡眠性血红蛋白尿合并再生障碍性贫血

目的探讨异基因造血干细胞移植（allogeneic hematopoietic stem cell transplantation,allo—HSCT）治疗阵发性睡眠性血红蛋白尿（ paroxysmal nocturnal hemoglobinuria, PNH）合并再生障碍性贫血的疗效。方法回顾性分析1例女性PNH合并再生障碍性贫血成功进行allo—HSCT病例的临床资料，患者经药物治疗无效后行allo—HSCT。患者签署知情同意书，符合医学伦理学规定。术前采用清髓性预处理方案。供者为其胞弟，分两次采得单个核细胞数7．8×10^8／kg、6．9×10^8／kg并输入患者体内。观察术后疗效，及复习相关文献。结果allo—HSCT术后30d，骨髓象示增生活跃。术后36d，血常规示血红蛋白110g／L，白细胞5．54×10^9／L，血小板171×10^9／L。术后40d，蔗糖溶血试验、酸溶血试验均阴性；采用流式细胞术检测的红细胞、中性粒细胞的细胞膜上CD55、CD59表达均在正常范围。术后30d，受者原女性染色体变为46，XY11]；术后132d，受者ABO血型由B型转为O型（供者型），表明移植成功。受者未出现急性移植物抗宿主病（aGVHD）。术后60d出现眼干、分泌物增多等症状，加用甲泼尼龙治疗后好转。随访10个月，血常规、骨髓象、CD55及CD59测定均正常，肝、肾功能正常，受者健康生存。结论难治性PNH可考虑行allo—HSCT治疗予以根治。

Allogeneic hematopoietic stem cell transplantation in treating paroxysmal nocturnal hemoglobinuria combined with aplastic anemia

Objective To explore the efficacy of allogeneic hematopoietic stem cell transplantation （allo-HSCT） in treating paroxysmal nocturnal hemoglobinuria （PNH） combined with aplastic anemia. Methods Clineal data of one female patient with PNH combined aplastie anemia who underwent allo-HSCT were analyzed retrospectively. The patient received allo-HSCT after ineffective treatment of drugs. The ethical committee approval had been received and the informed consent of the participating subject was obtained. The patient received myeloablative preconditioning. The donor was the patient＇s brother. The mononuelear ceils were collected by twice with 7. 8 ×10^8/kg and 6. 9 ×10^8/kg every time and were infused into the patient. The outcome was observed and relevant literature was reviewed. Results Myelogram showed active hyperplasia on 30ts day after allo-HSCT. The blood routine showed hemoglobin 110 g/L, white blood cell 5.54 ×10^9/L, and platelet 171 ×10^9/L on 36th day after allo-HSCT. The sucrose lysis test and acid hemolysis test were negative on 40th day after allo-HSCT. The expression of CD55 、 CD59 on the membrane of erythrocyte and neutrophil by flow cytometry were normal. The recipient＇s primary female chromosome turned into 46, XY 111 on 30th day after allo-HSCT. The reeipient＇s blood type turned from type B into type O on 132th day after allo-HSCT, which indicated the success of transplantation. No acute graft-versus-host disease （aGVHD） was observed on the recipient. Dry eye and increased secretion occurred on the recipient on the 60th day after transplantation and was relieved after applying methylprednisolone. The recipient was followed up for 10 months in good health with normal blood routine, myelogram, expression of CD55, CD59, liver and kidney function. Conclusions Allo- HSCT can be considered to radical cure for patients with refractory PNH.