发育医学电子杂志 Vol. 5 202-204
生长发育
专题笔谈
结节性硬化症儿童的生长发育
陈健 邹丽萍
中国人民解放军总医院 儿童医学中心，北京 100853
Growth and development of children with tuberous sclerosis complex
CHEN Jian, ZOU Li-ping
摘要 结节性硬化症（tuberous sclerosis complex，TSC）是一种神经皮肤综合征，在人群中的发病率为1:（6 500～10 000），疾病的分布在种族、国家及性别间无差异，约1/3的TSC患者有家族史。本病以面部皮脂腺瘤、癫痫发作、智能减退为临床特征，病变除了累及皮肤、神经系统外，还可累及眼部、 肺脏、 肾脏、 心脏等多器官。TSC是基因缺陷导致的长期慢性疾病，除对症治疗外，近年来发现哺乳动物雷帕霉素靶蛋白（mammalian target of rapamycin，mTOR）抑制剂可以通过分子靶向治疗TSC。TSC发病年龄早，多处于生长发育高峰期，患儿出现癫痫、智力落后，并随着年龄的增长，逐渐出现多器官的错构瘤，影响器官功能。本文对TSC的发病机制、诊治及TSC儿童的生长发育进行简要归纳。
关键词:
结节性硬化症
儿童
生长发育
收稿日期: 2017-08-21
出版日期: 2017-10-30
发布日期: 2018-01-22
期的出版日期: 2017-10-30
基金资助: 国家重点研发计划项目（2016YFC1000700）；北京市科技计划课题（Z151100003915126）
通讯作者:
邹丽萍：https://baike.baidu.com/item/%E9%82%B9%E4%B8%BD%E8%90%8D/1633309?fr=aladdin
E-mail: zouliping21@hotmail.com
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