减低剂量预处理异基因造血干细胞移植治疗儿童范可尼贫血四例临床观察

Treatment of four cases of Fanconi anemia by allogeneic hematopoietic stem cell transplantation with low intensity conditional regimen

目的评估减低剂量预处理异基因造血干细胞移植（allo—HSCT）对范可尼贫血（FA）患儿的治疗效果。方法回顾性分析4例接受allo．HSCTFA患儿的临床资料。结果4例FA患儿中男1例、女3例，移植时中位年龄为7（5～10）岁，非亲缘10／10HLA全相合外周血干细胞移植2例，同胞10／10HLA全相合骨髓联合外周血干细胞移植、非亲缘10／10HLA全相合脐血干细胞移植各1例。采用白消安联合低剂量环磷酰胺（20mg／kg）为基础的预处理方案。4例FA患儿均获得造血重建，中性粒细胞植活中位时间为11（9～15）d，血小板植活中位时间为12（8～28）d。1例患儿发生I度急性移植物抗宿主病，1例患儿发生出血性膀胱炎，4例患儿均未发生肝静脉闭塞病。结论减低剂量预处理allo—HSCT治疗FA患儿是安全、有效的。

Objective To evaluate the efficiency and safety of low intensity conditional regimen for children with Fanconi anemia （FA） receiving allogenic hematopoietic stem cells transplantation （allo-HSCT）. Methods Four patients diagnosed as Fanconi anemia were enrolled in this study. One patient received HLA-identical sibling donor hematopoietic stem cell transplantation, two patients underwent unrelated donor matched （UD） HSCT, and one patient received unrelated cord blood transplantation. The conditional regimen consisted of Busulfan with low dose of cyclophosphamide. Results All 4 cases succeeded in allo-HSCT. The median time for neutrophils engraftment was 11（9-15） day, median time to platelets （PLT） engraftment was 12 （8-28） day. One case occurred with grade I of aGVHD, I case with hemorrhagic cystitis. No patient happened with hepatic veno-occlusive disease （VOD）. Conclusion Low intensity of conditional regimen is efficient and safe which should be recommended for FA patients with HSCT.