Menkes病的治疗研究进展  

Research progress on the treatment of Menkes disease

作　　者：毛雨鸽 李永钦 秦炯[1] MAO Yu-ge;LI Yong-qin;QIN Jiong(Peking University People's Hospital,Beijing 100044,China)

机构地区：[1]北京大学人民医院,北京100044

出　　处：《中国儿童保健杂志》2020年第7期763-765,779,共4页Chinese Journal of Child Health Care

摘　　要：Menkes病是一种罕见的X连锁隐性遗传病,由ATP7A基因突变引起,临床表现为神经系统症状及全身多系统功能障碍。目前治疗方法主要包括铜补充剂、抗癫痫治疗和支持治疗,随着分子遗传学技术的进步,在基因治疗方面也取得了一定进展。本文就以上治疗手段的研究进展作一综述,旨在为本病的个体化治疗提供参考。Menkes disease is a rare X-linked recessive genetic disease caused by ATP7A gene mutation,with varying clinical symptoms.Present treatments mainly include copper supplement,antiepileptic therapy,gene therapy and support therapy.With the development of molecular genetics technology,progress has been made on the treatment of Menkes disease.This review aims to provide reference for the individualized treatment of this disease.

关 键 词：MENKES病 ATP7A基因 X连锁隐性遗传病 

分 类 号：R725.9[医药卫生—儿科]