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背景:Duchenne型肌营养不良症是一种累及肌肉系统的致死性遗传疾病,迄今尚无有效治疗方法。近年来学者们针对干细胞治疗Duchenne型肌营养不良症进行了基础研究和动物实验,在此基础上又进行了有意义的临床试验。目的:观察Duchenne型肌营养不良症患儿接受序贯式干细胞移植治疗前后,其运动功能、肌细胞修复与再生、抗肌萎缩蛋白表达和缺失基因替代的变化,评价治疗的可行性和安全性。方法:于2009-05应用序贯式干细胞移植治疗1例8岁男性Duchenne型肌营养不良症患儿,多重连接探针扩增方法基因分析13外显子缺失。序贯式干细胞移植,即依次行脐带间充质干细胞经静脉内移植-肌肉内移植-单倍体异基因造血干细胞移植。定期检测血清酶学变化、供者HLA植入证据、缺陷基因表达、肌细胞膜抗肌萎缩蛋白表达、运动功能改善情况。结果与结论:序贯式干细胞移植治疗Duchenne型肌营养不良症,可使缺失基因替代,肌细胞膜dystrophin阳性表达,血清酶学显著降低,进一步提高运动功能。可阻止Duchenne型肌营养不良症患儿疾病进展,有望获得持续性改善。
BACKGROUND: Duchenne’s muscular dystrophy is a lethal hereditary disease involving the muscular system and so far no effective treatment has been available. In recent years, scholars have conducted basic research and animal experiments on stem cell therapy of Duchenne muscular dystrophy. On the basis of this, they have conducted meaningful clinical trials. OBJECTIVE: To observe the changes of motor function, repair and regeneration of muscle cells, dystrophin expression and deletion of gene replacement before and after treatment of Duchenne muscular dystrophy children undergoing sequential stem cell transplantation to evaluate the feasibility and safety of the treatment . METHODS: One case of Duchenne muscular dystrophy, a 8 year old male, was treated with sequential stem cell transplantation in 2009-05. Multiplexed probe amplification was used to genotype 13 exon deletions. Sequential stem cell transplantation, which followed by umbilical cord mesenchymal stem cells transplanted intravenously - intramuscular transplantation - haploid allogeneic hematopoietic stem cell transplantation. Serum enzyme changes were regularly detected, donor HLA evidence of implantation, defective gene expression, muscle cell membrane dystrophin expression, motor function improvement. RESULTS AND CONCLUSION: Sequential stem cell transplantation for treatment of Duchenne muscular dystrophy can result in the deletion of gene substitution, positive expression of dystrophin in muscle cell membrane, significant decrease of serum enzyme and further increase of motor function. Can prevent Duchenne muscular dystrophy disease progression, is expected to be sustained improvement.