雷特综合征的致病基因及诊疗研究进展

摘要

雷特综合征(Rett syndrome,RTT)是一种严重的自主神经系统功能障碍性疾病,与X染色体上的Mecp2基因突变密切相关,既往认为RTT只累及女性患者,近年来随着认识及医疗技术水平的提高,男性患儿相继被发现.患儿主要临床特征是丧失已获得的手部技能及语言能力、手部刻板动作、癫痫和呼吸障碍.RTT诊断主要依靠临床表现,目前临床上尚无有效的治疗方案.该文主要针对RTT的基因研究、诊断和治疗进展进行综述.%Rett syndrome ( RTT) is a devastating neurological disorder that is caused largely by muta-tions in the X-linked gene MECP2,other two genes associated with RTT are CDKL5 and FOXG1. RTT is one of the most common causes of mental retardation in girls,male cases are rare. Classical features of typical RTT in-clude losing acquired spoken language and hand skills,hand stereotypies,epilepsy and respiratory disorders. The diagnosis of RTT mainly depends on the clinical characteristics. Atpresent, it still lacks atargeted treatment. In this review,we summarize both the gene research,diagnosis and treatmentprogresses of RTT so as to improve the understanding of RTT.