摘要
目的观察造血干细胞移植(HSCT)治疗儿童遗传性骨髓衰竭综合征(IBMFs)的疗效和预后。方法收集2019年1月至2023年11月在郑州大学第一附属医院行HSCT的IBMFs患儿的临床资料,分析其临床特征、移植预处理方案、造血重建情况以及预后。结果纳入IBMFs患儿18例,包括范可尼贫血(FA)7例、先天性角化不良(DKC)5例、先天性纯红细胞再生障碍性贫血(DBA)3例、先天性无巨核细胞性血小板减少症(CAMT)2例和重症先天性中性粒细胞减少症(SCN)1例,男10例、女8例,中位移植年龄为8.2(1.2~14.0)岁。移植后患儿中性粒细胞植入中位时间为11(9~21)天,血小板植入中位时间为13(10~30)天,18例患儿在中位随访10.6(1.0~62.9)个月时骨髓均为供者细胞完全嵌合状态。共8例患儿出现了急性移植物抗宿主病(GVHD),其中Ⅳ度2例、Ⅲ度2例、Ⅱ度1例、Ⅰ度3例;2例发生慢性GVHD,均为轻度。存活15例;死亡3例,2例FA患儿出现移植相关血栓性微血管病,应用血浆置换或去纤维蛋白多核苷酸治疗,效果欠佳,此2例患儿均死于多脏器衰竭;1例CAMT患儿移植后+28天出现严重肺部感染,病情进展迅速,死于呼吸衰竭。结论HSCT是治疗儿童IBMFs的有效方法,根据IBMFs患儿所患疾病选择相适应的预处理方案可使患儿获得更好的疗效及预后。
Objective To observe the efficacy and prognosis of hematopoietic stem cell transplantation(HSCT)in the treatment of inherited bone marrow failure syndromes(IBMFs)in children.Methods The clinical data of children with IBMFs who underwent HSCT in the First Affiliated Hospital of Zhengzhou University from January 2019 to November 2023 were collected,and their clinical characteristics,transplantation preconditioning regimen,hematopoietic reconstruction,and prognosis were analyzed.Results A total of 18 children with IBMFs were enrolled,including 7 cases of Fanconi anemia(FA),5 cases of dyskeratosis congenita(DKC),3 cases of Diamond-Blackfan anemia(DBA),2 cases of congenital amegakaryocytic thrombocytopenia(CAMT)and 1 case of severe congenital neutropenia(SCN).There were 10 boys and 8 girls,with a median age of 8.2(1.2-14.0)years.The median time of neutrophil engraftment was 11(9-21)days,and the median time of platelet engraftment was 13(10-30)days.During the median follow-up of 10.6(1.0-62.9)months,the bone marrow of 18 patients was completely chimeric.A total of 8 patients developed acute graft-versus-host disease(GVHD),including 2 cases of gradeⅣ,2 cases of gradeⅢ,1 case of gradeⅡ,and 3 cases of gradeⅠ.Two children suffered from mild chronic GVHD.Fifteen patients survived and 3 died.Two children with FA developed transplant-related thrombotic microangiopathy,and they were treated with plasma exchange or defibrotide with poor results,and all died of multiple organ failure.One CAMT patient developed a severe pulmonary infection 28 days after transplantation,and his condition progressed rapidly,ultimately leading to respiratory failure.Conclusions HSCT is an effective method for the treatment of IBMFs in children.According to the different diseases of children with IBMFS,the appropriate preconditioning regimen can be selected to obtain a better curative effect and prognosis.
作者
赵琳朝
王英洁
景沼贺
买钰淼
孙盼
邱思敏
牛宏运
陈志伟
董芃芃
刘健
ZHAO Linchao;WANG Yingjie;JING Zhaohe;MAI Yumiao;SUN Pan;QIU Simin;NIU Hongyun;CHEN Zhiwei;DONG Pengpeng;LIU Jian(Department of Pediatrics,The First Affiliated Hospital of Zhengzhou University,Zhengzhou 450052,Henan,China;Department of Pediatrics,Henan Children’s Hospital,Zhengzhou 450052,Henan,China)
出处
《临床儿科杂志》
北大核心
2025年第7期505-510,共6页
Journal of Clinical Pediatrics
基金
郑州大学青年教师基础研究培育基金(No.JC21854036)。
关键词
造血干细胞移植
遗传性骨髓衰竭综合征
预处理方案
儿童
hematopoietic stem cell transplantation
inherited bone marrow failure syndrome
preconditioning regimen
child
作者简介
通信作者:刘健,电子信箱:93624638@qq.com。
