Menkes综合征的诊治进展  

Research progress in Menkes disease

作　　者：宋佳 韩蓓(综述)[1] 刘倩琦(审校)[1] Song Jia;Han Bei;Liu Qianqi(Department of Endocrinology, the Affiliated Children′s Hospital of Nanjing Medical University, Nanjing 210008, China)

机构地区：[1]南京医科大学附属儿童医院内分泌科,南京210008

出　　处：《国际儿科学杂志》2019年第6期427-430,共4页International Journal of Pediatrics

摘　　要：Menkes综合征(Menkes disease,MD)是一组多系统代谢紊乱性铜缺乏病,系X染色体上编码铜转运ATP酶的ATP7A基因缺陷所致。其临床特点包括婴儿期起病,特殊的卷发、面容变化、智力发育迟缓,伴进行性神经元变性、张力减退和结缔组织异常。近年来发现众多MD中间表型,其中最轻型是枕角综合征(occipital horn syndrome,OHS)。MD临床表型的多样性,显示了ATP7A变异从染色体异常到单核苷酸突变的广谱性。早期组氨酸铜替代治疗仍是目前最重要的治疗方法,L-DOPS联合治疗可能使部分患者临床受益。该文主要就MD的发病机制、临床特点、诊疗现状作一综述。Menkes Disease(MD)is a multisystemic disorder of impaired copper metabolism with an X-linked recessive inheritance, which is caused by defects in ATP7A gene encoding a copper-transporting ATPase.It is characterized by infantile onset, peculiar curls and facial changes, mental retardation with progressive neurodegeneration, as well as hypotonia and connective tissue abnormalities.Many intermediate phenotypes have been found in recent years, the mildest form of which is occipital horn syndrome(OHS). Its clinical variants show a broad spectrum from chromosome abnormalities to single-nucleotide mutation.Early copper-histidine supplementation is still the most crucial treatment at present, and L-DOPS combination therapy may benefit some patients clinically.This article reviews the pathogenesis, clinical features and the progress of diagnosis and treatment of MD.

关 键 词：Menkes综合征 ATP7A基因 铜转运 铜代谢 

分 类 号：R725.9[医药卫生—儿科]