非血缘脐血干细胞移植治疗X连锁慢性肉芽肿7例  

A clinical study of unrelated umbilical cord blood transplantation in the treatment of 7 patients with chronic granulomatous disease

作　　者：唐湘凤[1] 卢伟[1] 井远方[1] 杜宏[1] 吴南海[1] 徐世侠[1] 栾佐[1] TANG Xiangfeng LU Wei JING Yuanfang DU Hong WU Nanhai XU Shixia LUAN Zuo(Department of Pediatrics, Navy General Hospital, Beijing 100048, China)

机构地区：[1]海军总医院儿科,北京100048

出　　处：《中国小儿血液与肿瘤杂志》2016年第5期231-236,共6页Journal of China Pediatric Blood and Cancer

摘　　要：目的探讨非血缘脐血干细胞移植(UR-UCBT)治疗X连锁慢性肉芽肿(X-CGD)的疗效。方法回顾性分析2007年5月至2015年5月海军总医院收治7例X-CGD患儿进行UR-UCBT的临床资料并复习相关文献。给7例X-CGD患儿进行UR-UCBT,6例为单份脐血,1例为双份脐血。HLA配型4例全相合,2例5个位点相合,1例4个位点相合。预处理选用白消安/环磷酰胺/兔抗人T-淋巴细胞免疫球蛋白(ATG),其中6例在其基础上加氟达拉滨(Flu)。于0 d回输脐血,有核细胞中位数为8.51×10~7/kg,CD34^+细胞中位数为3.81×10~5/kg。预防移植物抗宿主病(GVHD)采用环孢霉素A/吗替麦考酚酯,其中1例在其基础上加甲基泼尼松龙。结果 ANC≥0.5×10~9/L和PLT≥20×10~9/L的中位天数分别是+14 d和+30 d。4例出现Ⅰ~Ⅲ度急性GVHD,给予激素后均控制。在+30 d所有患儿通过PCR-SSO/FISH检测均为供者型完全嵌合。ECGD酶活力均于+1个月恢复正常。CYBB基因异常者+2个月未检测出突变基因。随访中位时间10(5~101)个月,未发生慢性GVHD,1例+3个月死于心功能衰竭,现存活6例酶活力均恢复正常,为无病存活。结论非血缘脐血能快速有效的提供造血干细胞,能耐受HLA多个位点不相合,UR-UCBT可对X-CGD起到根治性治疗作用。Objective To explore the efficacy of unrelated umbilical cord blood transplantation（UR-UCBT） in the treatment of 7 patients with chronic granulomatous disease（CGD）.Methods The clinical characteristics of seven children of CGD underwent UR-UCBT in our hospital between May 2007 and May 2015 were retrospectively analyzed.Literature about allogeneic hematopoietic stem cell transplantation（allo-HSCT） in the treatment of CGD was reviewed.7 patients with CGD received UR-UCBT,in which 6 patients who underwent a single-unit CBT and 1 patient who underwent doubleunit CBT.4 cases were HLA-matched and 3 cases were HLA-mismatch at one（n = 2） or two（n = 1）antigens.All patients received a non-total body irradiation（TBI） myeloablative conditioning regimen consisting of intravenous busulfan,cyclophosphamide and Antithymocyte globulin（ATG）,in which 6cases received fludarabine in addition.Patients received UR-UCBT on 0d.The median dose of donor nucleated cell counts was 8.51 × 10^7/kg of recipient weight,and CD34^＋ cell counts was 3.81×10^5/kg of recipient weight.The management for acute graft versus host disease（GVHD） is cyclosporin and MMF,in which 1 received methylprednisolone in addition.Results In 7 cases,the day of granulocytes exceeding 0.5×10^9/L and platelets exceeding 20 × 10^9/L were respectively day 14 and 30 after transplantation.By PCR-SSO /FISH analysis,Hematopoietic stem cells of donors were shown complete chimerism on the 30 th day after transplantation.Four patients experienced grade Ⅰ to Ⅲ acute GVHD,which responded to steroids.Chronic GVHD was not found during the 10 months of follow-up.One case died from heart failure at 3months post-HSCT.In six patients who survived,gene and enzyme examination recovered normal.Conclusion Unrelated umbilical cord blood stem cell transplantation is an effective radical cure for the treatment of patient with chronic granulomatous disease.

关 键 词：脐带造血干细胞 慢性肉芽肿 造血干细胞移植 

分 类 号：R457.7[医药卫生—治疗学] R725.9[医药卫生—临床医学]