非血缘脐血或单倍体来源的造血干细胞移植治疗戈谢病的临床研究  

Clinical study of allogeneic hematopoietic cell transplantation from unrelated cord blood or unmanipulated haploidentical donors for Gaucher disease

作　　者：唐湘凤 卢伟 井远方 郗晓芹 吴南海 栾佐 TANG Xiangfeng;LU Wei;JING Yuanfang;XI Xiaoqin;WU Nanhai;LUAN Zuo(Department of Paediatrics, the Sixth Medical Centre of PLA General Hospital , Beijing 100048, China)

机构地区：[1]中国人民解放军总医院第六医学中心儿科,北京100048

出　　处：《中国小儿血液与肿瘤杂志》2020年第4期195-199,共5页Journal of China Pediatric Blood and Cancer

基　　金：首都临床特色应用研究(Z18110000718032)。

摘　　要：目的探讨异基因造血干细胞移植(allo-HSCT)治疗儿童戈谢病(GD)的临床疗效。方法回顾性分析2013年4月1日—2018年12月31日本中心收治的10例GD,进行allo-HSCT治疗,非血缘脐血和单倍体移植各5例,男2例,女8例。中位年龄5.7岁。预处理是以白消安和环磷酰胺为基础的清髓方案。预防急性移植物抗宿主病(aGVHD)以环孢素为基础。脐血组回输有核细胞(TNC)中位数6.5×10^7/kg,CD34^+细胞中位数2.13×10^5/kg;单倍体组回输TNC中位数16.5×10^8/kg,CD34^+细胞中位数6.03×10^6/kg。结果中性粒细胞和血小板植入中位天数分别是+13.5d和+20.5d,无原发性植入失败病例。9例患儿+30d为供者型完全嵌合,β-葡糖脑苷脂酶活力于+3个月恢复正常。Ⅲ~Ⅳ度aGVHD发生率为10%,1例出现局限性慢性GVHD。中位随访时间47个月,8例无病存活,1例死亡。结论Allo-HSCT是GD的根治方法,疗效明确。Objective To explore the efficacy of allogeneic hematopoietic stem cell transplantation(allo-HSCT)in the treatment of patients with Gaucher disease(GD).Methods The clinical characteristics of 10 patients of GD who underwent unrelated cord blood transplantation(UCBT,n=5)or haploidentical HSCT(Haplo-HSCT,n=5)in our center from April 1st,2013 to December 31th,2018 were retrospectively analyzed.Ten patients included 2 males and 8 females,the median age was 5.7 years.All patients received a myeloablative conditioning regimen consisting of busulfan and cyclophosphamide.Acute GVHD(aGVHD)prophylaxis was based on cyclosporine A.In UCBT group,the median dose of donor total nucleated cells(TNC)was 6.5×10^7/kg of recipient weight and CD34^+cell counts were 2.13×10^5/kg of recipient weight.In Haplo-HSCT group,the median dose of donor TNC was 16.5×10^8/kg of recipient weight and CD34^+cell counts were 6.03×10^6/kg of recipient weight.Results The median time to neutrophil and platelet engraftment was 13.5 days and 20.5 days respectively.No primary graft failure occurred in any case.Complete donor chimerism of 9 patients were shown at+30d and the glucocerebrosidas enzyme activity returned to normal at+3m.The incidence rate of gradeⅢ-Ⅳwas 10%.The limited skin chronic GVHD was found in one case.The median follow-up was 47 months.8 patients survived with disease free,and one patient died.Conclusions Allo-HSCT is the radical treatment of children with GD and the clinical effect is positive.

关 键 词：戈谢病 异基因造血干细胞移植 单倍体 脐血 溶酶体贮积病 

分 类 号：R73[医药卫生—肿瘤]