非血缘脐血造血干细胞移植治疗先天性无巨核细胞血小板减少症2例并文献复习  

Application of unrelated umbilical cord blood hematopoietic stem cell transplantation for the treatment of 2 cases with congenital amegakaryocytic thrombocytopenia and literature review

作　　者：苏淑芳[1] 王叨[1] 刘玉峰[1] 李白[1] 李欢欢[1] 陈娇[1] 张蕾[1] 徐岩[1] 毛舒婷 魏林林[1] Su Shufang;Wang Dao;Liu Yufeng;Li Bai;Li Huanhuan;Chen Jiao;Zhang Lei;Xu Yan;Mao Shuting;Wei Linlin(Department of Pediatric Medicine,the First Affiliated Hospital of Zhengzhou University,Zhengzhou 450052,China)

机构地区：[1]郑州大学第一附院医院小儿内科,郑州450052

出　　处：《中华实用儿科临床杂志》2025年第4期295-298,共4页Chinese Journal of Applied Clinical Pediatrics

摘　　要：目的探讨非血缘脐血造血干细胞移植(HSCT)治疗先天性无巨核细胞血小板减少症(CAMT)的临床经验及疗效。方法病例总结。回顾性分析2020年3月至2023年8月于郑州大学第一附属医院小儿内科诊治的2例CAMT,最终接受非血缘脐血HSCT治疗并治愈患儿的临床资料。分别以“先天性无巨核细胞血小板减少症”“造血干细胞移植”“congenital amegakaryocytic thrombocytopenia”“hematopoietic stem cell transplantation”为检索词检索中国知网、万方数据库、PubMed数据库自建库至2024年7月的相关文献,总结HSCT治疗CAMT的临床特点、诊疗经过及预后。结果2例患儿均表现为全身皮肤散在出血点,均存在MPL基因致病性双重杂合突变,最终确诊为CAMT。例1,女,移植时3岁;例2,女,移植时5岁,均采用非血缘脐血HSCT,顺利植入并获得造血重建。例1和例2的中性粒细胞植入时间分别为移植后21d、20d;血小板植入时间分别为移植后40d、31d;2例患儿中性粒细胞植入后嵌合率均显示为完全供者细胞嵌合。例1移植后合并植入综合征,例2移植后合并植入综合征、高血压脑病、巨细胞病毒感染。2例患儿均无移植物抗宿主病(GVHD)。转归:2例患儿移植后均造血和免疫重建,原发病均治愈,例1随访14个月余、例2随访17个月余均无病生存。文献复习24例,结合本组2例,共纳入26例患儿,总体无病生存率为92.3%(24/26)。12例有CAMT分型资料,其中Ⅰ型10例,Ⅱ型2例。26例患儿行HSCT,其中骨髓HSCT17例,总生存率为88.2%(15/17),外周血HSCT2例;脐血HSCT7例(其中6例非血缘脐血,1例亲缘脐血),总生存率为100%。与骨髓和外周血HSCT比较,非血缘脐血HSCT未发生3~4级GVHD。结论CAMT患儿无合适供体时行非血缘脐血HSCT可取得良好疗效,清髓预处理方案可使CAMT患儿获益。Objective:To investigate the clinical experience and efficacy of unrelated umbilical cord blood hematopoietic stem cell transplantation(HSCT)for the treatment of congenital amegakaryocytic thrombocytopenia(CAMT).Methods:A case summary was conducted.The clinical data of 2 children with CAMT who were finally cured by unrelated umbilical cord blood HSCT in the Department of Pediatric Medicine,the First Affiliated Hospital of Zhengzhou University from March 2020 to August 2023 were retrospectively analyzed.Related studies were retrieved from databases CNKI,Wanfang and PubMed using search terms including"congenital amegakaryocytic thrombocytopenia"and"hematopoietic stem cell transplantation"from the inception to July 2024.The clinical characteristics,diagnosis and treatment processes,and prognosis of CAMT patients treated by HSCT were then summarized.Results:Both cases exhibited scattered skin haemorrhages throughout the body and carried 2 compound heterozygous mutations with pathogenicity in the MPL gene.Both patients were finally diagnosed with CAMT.Case 1 was a girl aged 3 at the time of transplantation,and case 2 was also a girl,who aged 5 at the time of transplantation.Both of them received unrelated umbilical cord blood HSCT and hematopoietic reconstruction was achieved.The time of neutrophil and platelet implantation was 21 and 40 days after transplantation in case 1,and 20 and 31 days in case 2,respectively.The chimerism rate of neutrophil implantation in both children was complete chimerism of donor cells.Implantation syndrome was detected in case 1 following transplantation.Case 2 suffered implantation syndrome,hypertensive encephalopathy,and cytomegalovirus infection following transplantation.Both children showed no graft-versus-host disease(GVHD).Both children had hematopoietic and immune reconstruction after transplantation and their primary diseases were cured.Cases 1 and 2 were followed up for more than 14 and 17 months,respectively.Both of them achieved disease-free survival during the follow up.Litera

关 键 词：造血干细胞移植 先天性无巨核细胞血小板减少症 脐血 

分 类 号：R725.5[医药卫生—儿科]