Rett综合征的分子遗传学和治疗研究进展  

Advances in molecular genetics and therapy of Rett syndrome

作　　者：吴浩(综述) 钟敏(审校)[1] WU Hao;ZHONG Min(Department of Rehabilitation,Children′s Hospital of Chongqing Medical University/National Clinical Research Center for Child Health and Disorders/Ministry of Education Key Laboratory of Child Development and Disorders/Chongqing Key Laboratory of Child Neurodevelopment and Cognitive Disorders,Chongqing 400014,China)

机构地区：[1]重庆医科大学附属儿童医院康复科/国家儿童健康与疾病临床医学研究中心/儿童发育疾病研究教育部重点实验室/儿童神经发育与认知障碍重庆市重点实验室,重庆400014

出　　处：《现代医药卫生》2024年第11期1945-1949,共5页Journal of Modern Medicine & Health

摘　　要：Rett综合征(RTT)为自主神经系统严重病变导致的功能障碍性疾病,目前大多数学者认为其与X染色体上MECP2基因突变有关。RTT患儿主要的临床表现为癫痫、呼吸功能障碍、丧失已学会的手部技能及语言能力等。既往诊断RTT主要依赖于患者特殊的临床表现,制药行业对于RTT的研究几乎仅针对MECP2蛋白下游靶点和改善对症功能。而随着关于RTT的研究不断深入及医疗技术的进步,近年来出现了许多新的治疗策略并取得了重大突破。该文主要收集研究RTT的分子机制和治疗进展的文献进行综述。Rett syndrome(RTT)is a functionally disabling disorder resulting from severe dysfunction of the autonomic nervous system.Currently,the majority of scholars believe it is associated with mutations in the MECP2 gene on the X chromosome.Clinical manifestations in RTT patients primarily include seizures,respiratory dysfunction,loss of previously acquired hand skills,and language abilities etc.In the past,the diagnosis of RTT mainly relied on the specific clinical manifestations of patients,and research on RTT in the pharmaceutical industry almost exclusively focused on downstream targets of MECP2 and improved symptomatic function.With the continuous deepening of research on RTT and the advancement of medical technology,many new therapeutic strategies have emerged in recent years and significant breakthroughs have been made.Therefore,in this review,the molecular mechanism and therapeutic progress of RTT were collected and reviewed.

关 键 词：RETT综合征 基因突变 遗传 分子机制 治疗 综述 

分 类 号：R714.143[医药卫生—妇产科学] G353.11[医药卫生—临床医学]