摘要
结节性硬化症（tuberous sclerosis complex,TSC）是一种由基因缺陷所导致、多系统受累、儿童常见的神经皮肤综合征,该病主要临床表现为皮肤和中枢神经系统损害,其中有90％的TSC患者出现神经系统症状（惊厥、孤独症、注意缺陷多动障碍、睡眠障碍等问题）.传统治疗手段对神经和行为症状的效果欠佳,尤其是对于惊厥的控制.近年来,基于TSC发病机制寻找新的治疗方法已成为研究热点.现对近年来关于TSC遗传机制的研究进展进行概述,对制定个体化治疗方案和了解患儿预后具有重要前景.
Tuberous sclerosis complex （TSC） is a genetic multisystem disorder that has an impact on many organ systems.It is a common neurocutaneous syndrome in children, the main clinical manifestations characterized by impairment of skin and nervous system.The most frequent neurological symptoms are seizures,which occur in up to 90% of patients and often are intractable,followed by autism spectrum disorders, intellectual disability, attention deficit-hyperactivity disorder, and sleep, et al.Conventional treatment has frequently proven insufficient for neurological and behavioral symptoms, particularly seizure control.Currently, there are many studies focus on the mechanism-based treatment in TSC.Therefore, this review will focus on the genetic mechanism of TSC, further exploring personalized medicine and prognosis for TSC shows good prospects.
出处
《中华实用儿科临床杂志》
CSCD
北大核心
2015年第24期1841-1844,共4页
Chinese Journal of Applied Clinical Pediatrics
关键词
结节硬化症
发病机制
神经病学
遗传
Tuberous sclerosis complex
Pathogenesis
Neurology
Genetics
