脐血造血干细胞移植治疗儿童罕见病短期疗效评价  

Evaluation of short-term efficacy of umbilical cord blood transplantation in the treatment of rare diseases

作　　者：陈凯[1] 蒋慧[1] 张娜[1] 朱嘉莳[1] 陆正华[1] 邵静波[1] 杨静薇[1] 李红[1] 邹冰 CHEN Kai JIANG Hui ZHANG Na ZHU Jiashi LU Zhenghua SHAO Jingbo YANG Jingwei LI Hong ZOU Bing(Department of Hematology and Oncology, Shanghai Children＇ s Hospital Affiliated to Shanghai Jiaotong University, Shanghai 200040, Chin)

机构地区：[1]上海交通大学附属儿童医院血液肿瘤科,上海200040

出　　处：《中国小儿血液与肿瘤杂志》2017年第5期240-245,共6页Journal of China Pediatric Blood and Cancer

摘　　要：目的评价脐血造血干细胞移植(UCBT)治疗罕见病的短期疗效。方法回顾性分析2016年8月-2016年12月在本中心接受UCBT治疗的4例罕见病的临床资料、分子诊断及移植结果。结果 4例罕见病分别接受了HLA全相合或2~4位点不合的脐血,采用以"白消安+环磷酰胺+兔抗人胸腺细胞免疫球蛋白"为基础的经典清髓预处理方案。脐血移植中位年龄10(5.7~41)个月,诊断至移植中位时间4.5(3~14)个月。输注脐血有核细胞中位数17.5(13.7~21)×10~7/kg,CD34^+细胞中位数6.9(4 5~16.5)×10~5/kg。粒细胞植活中位时间为14(10~22)d,血小板植活中位时间为42(17~67)d,移植后+1个月起短串联重复序列持续完全供者嵌合状态,无1例发生植入失败或者混合嵌合。短期随访内未发生Ⅲ~Ⅳ度急性移植物抗宿主病,巨细胞病毒感染率高达100%。移植后T淋巴细胞亚群分析CD8^+细胞绝对值中位数0.412(0.375~0.534)×10~9/L,总体有上升趋势,但未达正常标准(0.54~1.36)×10~9/L;CD4^+细胞绝对值中位数0.188(0.038~0.479)×10~9/L,远低于正常标准(0.71~1.84)×10~9/L;CD4^+/CD8^+比例明显倒置。+30d复测所有患儿致病基因消失,且原发病缓解,无1例发生治疗相关死亡。结论 UCBT治疗罕见病对原发病控制有显著疗效,但免疫重建缓慢、病毒感染率高。进一步研究需要优化与改进移植预处理方案,促进免疫重建,以期获得更好的生存及生活质量。Objective To evaluate the short-term efficacy of umbilical cord blood transplantation（UCBT） in the treatment of rare diseases. Methods The clinical data, molecular diagnosis and transplantation results in 4 rare cases admitted to our hospital from August 2016 to December 2016 were retrospectively analyzed. Results 4 cases with rare diseases were treated with HLA Complete matching and2-4 sites mismatch of cord blood respectively, using busulfan/cyclophosphamide/anti-thymocyte globulin as the basis of the classic myeloablative regimen. The median age of UCBT was 10（5.7～41） months, and the median time from diagnosis to transplantation was 4. 5（3～14） months. The median number of TNC was17.5（13. 7～21）×10^7/kg,and the median of CD34^＋cells was 6. 9（4. 5～16.5）×10～5/kg. The median time of Neutrophils engraftment was 14（10～22） days, and the median time of platelet engraftment was42（17～67） days. From one month after transplantation, STR continued to complete chimerism, no implant failure or mixed chimerism occurred. Short term follow-up did not occur in Ⅲ-Ⅳ degree acute graft-versus-host disease and the rate of cytomegalovirus infection was very high（100%）. After transplantation,the median of CD8^＋cell subsets was 0. 412（0. 375～0. 534）×10^9/L, the number of CD8^＋ cells increased in general,but did not reach the normal standard（0.54～1. 36） ×10^9/L. The median of CD4^＋ cell subsets was 0.188（0.038～0.479）×10^9/L, far lower than the standard（0.71～1.84） ×10^9/L and the proportion of CD4^＋/CD8^＋ was significantly reversed. All of the patients had remission of the primary disease and the disappearance of the pathogenic gene, and there was no treatment-related death（ TRM）. Conclusions UCBT has a significant effect in the treamtnet of rare disease, while the immune reconstitution was slow and the infection rate was high. Further research is needed to optimize and improve the transplantation conditioning regimen and promote the immune rec

关 键 词：脐血造血干细胞移植 罕见病 儿童 疗效 

分 类 号：R725[医药卫生—儿科]