Research progress on the treatment of Menkes disease

doi:10.11852/zgetbjzz2019-1028

Abstract

Abstract: 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.

Key words: Menkes disease, ATP7A gene, X-linked recessive genetic disease

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。

关键词: Menkes病, ATP7A基因, X连锁隐性遗传病

CLC Number:

R725.9

MAO Yu-ge, LI Yong-qin, QIN Jiong. Research progress on the treatment of Menkes disease[J]. journal1, 2020, 28(7): 763-765.

毛雨鸽, 李永钦, 秦炯. Menkes病的治疗研究进展[J]. 中国儿童保健杂志, 2020, 28(7): 763-765.

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