摘要杜氏肌营养不良(Duchenne muscular dystrophy,DMD)是最常见的X连锁隐性遗传性肌肉病,以进行性、致残、致死性为特点.DMD目前尚无治愈方法.经典的糖皮质激素治疗,结合康复锻炼及多学科综合管理可有效延缓病程、延长患儿存活期,但不能改变患儿结局.新型细胞治疗如骨髓间充质干细胞移植有一定作用,但存在多种并发症且疗效不确定;骨骼肌卫星细胞移植后细胞存活及迁移的问题尚未解决.基因治疗是目前最有前景的DMD治疗手段.传统的研究方法包括病毒介导的mini-或micro-DMD基因替代技术、外显子跳跃技术.基因编辑技术CRISPR/Cas9有望彻底治愈DMD.此外,DMD治疗新靶标如Jaggedl基因、P2RX7基因,以及小分子疗法如ARM210、SMT C1100也有一定疗效.该文就DMD的治疗进展进行综述.

abstractsDuchenne muscular dystrophy(DMD) is the most common fx-linked recessive inherited myopathy,which is characterized by progressive aggravation,debilitating and lethal prognosis.There is no effective curative treatment for DMD.Classical corticosteroids therapy combined with physical training and multi-disciplinary comprehensive healthcare can effectively slow the disease progression and prolong life expectancy effectively.However,it cant change the outcome of patients.New alternative cell therapy,such as bone marrow mesenchymal stem cell transplantation has a certain effect,but there are many complications and the efficacy is uncertain.Skeletal muscle satellite cell transplantation is facing the problem of cell survival and migration.Gene therapy is the most promising treatment for DMD.Traditional methods include viral-mediated mini-or micro-DMD gene replacement,exon skipping strategies.CRISPR/Cas9-based genome editing technique is a promising treatment to cure the disease.Additionally,some new treatment targets of DMD such as gene Jaggedl and P2RX7,as well as small molecular therapies such as ARM210 and SMT C1100 have also been studied.In this review,recent progress in the treatment of DMD was summarized.