第八届北京罕见病学术大会暨2020京津冀罕见病学术大会征文（67)

唐湘凤  卢伟  井远方  郗晓芹   吴南海  栾佐

[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12月1日- 2018年12月31日本中心收治的10例GD，进行allo-HSCT治疗，其中非血缘脐血5例，单倍体5例。男2例，女8例。中位年龄5.7岁。预处理以白消安/环磷酰胺为基础清髓方案。预防急性移植物抗宿主病（aGVHD）以环孢素为基础，脐血组回输单个核细胞中位数6.5×107/kg，CD34+细胞中位数2.13×105/kg，单倍体组回输单个核细胞中位数16.5×108/kg，CD34+细胞中位数6.03×106/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，未发生1例早期不植入，+30d为供者型完全嵌合，β-葡糖脑苷脂酶活力均于+3m恢复正常。1例于+5m出现晚期排斥。Ⅰ-Ⅱ度和Ⅲ-Ⅳ度aGVHD发生率分别为30%和10%，1例出现局限性慢性GVHD。中位随访时间47个月，9例存活（其中8例无病存活），1例死亡。OS和EFS分别为90%和80%。

结论  Allo-HSCT是GD的根治方法，疗效明确。

[关键词] 戈谢病；异基因造血干细胞移植；单倍体；脐血移植；溶酶体贮积病；

Clinical Study of Allogeneic Hematopoietic Cell Transplantation from Unrelated Cord Blood or Unmanipulated Haploidentical Donors for Gaucher diseases

TANG Xiangfeng1  LU wei1  Jing Yuanfang1  Xi Xiaoqin1 Huang Youzhang2 WU Nanhai1  Luan Zuo1

（1Department of paediatrics ， 2 Hematology department laboratory， Navy general hospital of  the People Liberation Army . Beijing 100048）

[Abstract]  Objective  To explore the efficacy of allogeneicl hematopoietic stem cell transplantation (Allo-HSCT) in the treatment of patients with Gaucher disease(GD). Methods  The clinical characteristics of 10 pediatric patients of GD who underwent unrelated cord blood transplantation (UCBT， n=5) or haploidentical hematopoietic stem cell transplantation (Haplo-HSCT， n=5) in our center between December  1 of 2013 and December 31 of 2018 were retrospectively analyzed.Ten patients included 2 males and 8 females， median age was 5.7 years. All patients received a myeloablative conditioning regimen consisting of intravenous busulfan and cycolphosphamid. Acute GVHD (aGVHD) prophylaxis was based on cyclosporine A in all patients. In UCBT group， the median dose of donor total nucleated cells(TNC) was 6.5×107/kg of recipient weight and CD34+ cell counts was 2.13×105/kg of recipient weight. In Haplo-HSCT group， the median dose of donor TNC was 16.5×108/kg of recipient weight and CD34+ cell counts was 6.03×106/kg of recipient weight. Results  The median time to neutrophil recovery and platelet engraftment was 13.5 days and 20.5 days， respectively. No primary graft failure occurred in any case. Donors hematopoietic stem cells was shown complete chimerism on the 30th day and the glucocerebrosidas enzyme activity returned to normal three month after transplantation.The incidence rate of grade Ⅰ to grade Ⅱ aGVHD was 30% and grade Ⅲ to grade Ⅳ was 10%， respectively. The limited skin chronic GVHD was found in one case， which responded to steroids. The median follow-up was 47 months. 8 patients survived with disease free， whose gene and enzyme examination recover normal，and chimerism is full donor type. One patient died. OS and FFS were 90% and 80% ， respectively. Conclusions  Allo-HSCT is the radical treatment of children with GD and the clinical effect is positive.

[Key word]  Gaucher diseases; allogeneic hematopoietic stem cell transplantation; haploidentical hematopoietic stem cell; umbilical cord blood stem cell; lysosomal storage diseases