减剂量预处理造血干细胞移植治疗儿童范可尼贫血3例报告  

Hematopoietic stem cell transplantation with low intensity conditional regimen for Fanconi anemia in children:a report of 3 cases

作　　者：陈志伟 刘健 王英洁 苏淑芳[1] 魏林林[1] 姚强华[1] 王颖超[1] 刘玉峰[1] CHEN Zhiwei;LIU Jian;WANG Yingjie;SU Shufang;WEI Linlin;YAO Qianghua;WANG Yingchao;LIU Yufeng(Department of Pediatrics,The First Affiliated Hospital of Zhengzhou University,Zhengzhou 450052,Henan,China)

机构地区：[1]郑州大学第一附属医院儿科,河南郑州450052

出　　处：《临床儿科杂志》2022年第1期46-50,共5页Journal of Clinical Pediatrics

基　　金：国家自然科学基金青年基金项目(No.81600133);郑州大学青年教师基础研究培育基金(No.JC21854036)。

摘　　要：目的探讨减剂量预处理造血干细胞移植(HSCT)治疗范可尼贫血(FA)的疗效,为优化FA移植方案提供依据。方法回顾分析2018年1月至2021年1月经HSCT治疗FA患儿的临床资料及随访结果。结果3例FA患儿,女1例、男2例,中位发病年龄6.1(3.6~13.4)岁,中位移植年龄7.2(5.7~14.0)岁。无关HLA不全相合(9/10)HSCT 1例,亲缘HLA全相合(10/10)HSCT 1例,无关HLA全相合(10/10)HSCT 1例。采用氟达拉滨、减剂量环磷酰胺(40 mg/kg)联合抗胸腺细胞球蛋白为基础的预处理方案。3例FA患儿回输单个核细胞中位计数为9.0(8.9~11.2)×10^(8)/kg,外周干细胞中CD34+细胞中位计数为4.5(3.1~5.2)×10^(6)/kg。3例FA患儿的造血功能均获得重建,粒细胞植入中位时间12(12~14)d,血小板植入中位时间13(12~14)d。随访至2021年4月,2例患儿无事件存活,1例因出现严重感染、移植物抗宿主病Ⅲ级等并发症死亡。结论减剂量预处理HSCT治疗FA是可行的,继续探索治疗FA的个体化HSCT方案十分必要。Objective To investigate the efficacy of hematopoietic stem cell transplantation(HSCT)with low intensity conditional regimen in the treatment of Fanconi anemia(FA),and to provide basis for the optimization of FA transplantation.Methods The clinical data and follow-up results of patients with FA treated by HSCT in our hospital from January 2018 to January 2021 were retrospectively analyzed.Results There were 3 children(1 girl and 2 boys)with FA.The median age of onset was 6.1(3.6-13.4)years,and the median age of transplantation was 7.2(5.7-14.0)years.The 3 patients were treated with HSCT from HLA-mismatched unrelated donor(9/10),HLA-matched sibling donor(10/10)and HLA-matched unrelated donor(10/10),respectively.The conditional regimen consisted of busulfan,low dose of cyclophosphamide(40 mg/kg)and antithymocyte globulin.In the 3 children with FA,the median number of returned mononuclear cells was 9.0(8.9-11.2)×10^(8)/kg,and the median number of peripheral CD34+cells was 4.5(3.1-5.2)×10^(6)/kg.Hematopoietic function was reconstructed in all the 3 children with FA.The median time of neutrophils engraftment was 12(12-14)days,and the median time of platelet engraftment was 13(12-14)days.Follow-up was performed to April 2021.Two patients survived without events,and 1 patient died due to the complications of severe infection and graft-versus-host disease(GVHD)gradeⅢ.Conclusion HSCT with low intensity of conditional regimen is feasible for the treatment of FA,and it is necessary to continuously explore individualized HSCT regimens for FA.

关 键 词：范可尼贫血 造血干细胞移植 移植物抗宿主病 减剂量预处理 

分 类 号：R457.7[医药卫生—治疗学] R725.5[医药卫生—临床医学]