异基因造血干细胞移植治疗X-连锁肾上腺脑白质营养不良  

Allogeneic hematopoietic stem cell transplantation for the treatment of X-linked adrenoleukodystrophy

作　　者：张菁[1] 应艳琴[2] 罗小平[2] 张义成[3] 肖毅[3] 

机构地区：[1]华中科技大学同济医学院附属同济医院肿瘤科,湖北省武汉市430030 [2]华中科技大学同济医学院附属同济医院儿科,湖北省武汉市430030 [3]华中科技大学同济医学院附属同济医院血液科,湖北省武汉市430030

出　　处：《中国组织工程研究》2013年第10期1868-1875,共8页Chinese Journal of Tissue Engineering Research

摘　　要：背景:X-连锁肾上腺脑白质营养不良一直是国内外遗传界研究的热点,对此病的治疗一直缺乏有效的手段。目的:分析2例异基因造血干细胞移植治疗X-连锁肾上腺脑白质营养不良的疗效和并发症。方法:对华中科技大学同济医学院附属同济医院2例进行异基因造血干细胞移植的X-连锁肾上腺脑白质营养不良患儿进行综合分析及基因检测,观察移植成功情况及移植后并发症的发生。结果与结论:2例均为儿童脑型X-连锁肾上腺脑白质营养不良。1例异基因造血干细胞移植成功,但发生严重的移植相关并发症,另1例移植失败。异基因造血干细胞移植是目前治疗早期儿童脑型X-连锁肾上腺脑白质营养不良的有效方法,但最终的疗效受移植是否成功及移植后并发症等因素的影响,且异基因造血干细胞移植的疗效尚需要长期的观察。BACKGROUND： X-linked adrenoleukodystrophy is the hot research in the field of genetics at home and abroad and there still lacks of the effective treatment method. OBJECTIVE： To analyze the efficacy and complications of allogeneic hematopoietic stem cell transplantation on the treatment of X-linked adrenoleukodystrophy in two cases. METHODS： Two cases of X-linked adrenoleukodystrophy treated with allogeneic hematopoietic stem cell transplantation were selected from Tongji Hospital, Tongji Medical College of Huazhong University of Science and Technology for comprehensive analysis and genetic testing. The success of the transplantation and the occurrence of complications after transplantation were observed. RESULTS AND CONCLUSION： Both of the two cases were childhood cerebral X-linked adrenoleukodystrophy. One case had successful allogeneic hematopoietic stem cell transplantation but with serious transplant-related complications, and the other one case was failed. Allogeneic hematopoietic stem cell transplantation is an effective method for treatment of early childhood cerebral X-linked adrenoleukodystrophy, but the ultimate effect was related with the success of transplantation and post-transplant complications and other factors, and the efficacy of allogeneic hematopoietic stem cell transplantation still needs long-term investigation.

关 键 词：干细胞 干细胞学术探讨 干细胞移植 X-连锁肾上腺脑白质营养不良 造血干细胞移植 异基因 脂肪酸类 过氧化酶体 遗传学 发病机理 诊断 治疗 移植相关并发症 真菌感染 

分 类 号：R318[医药卫生—生物医学工程]