Menkes病的临床、生化、影像及基因特点  

Clinical, biochemical,imaging and genetic characteristics of Menkes disease

作　　者：乔平云 郑璇 陈琬 徐凯丽 殷小静[1] 聂磊[1] 王亚丽[1] 吕楠 陈国洪 杨艳玲[2] Qiao Pingyun;Zheng Xuan;Chen Wan;Xu Kaili;Yin Xiaojing;Nie Lei;Wang Yali;LüNan;Chen Guohong;Yang Yanling(Department of Neurosurgery,Children’s Hospital Affiliated to Zhengzhou University/Henan Children’s Hospital/Zhengzhou Children’s Hospital;Department of Pediatrics,Peking University First Hospital)

机构地区：[1]郑州大学附属儿童医院/河南省儿童医院/郑州儿童医院神经内科,郑州450000 [2]北京大学第一医院儿科,北京100000

出　　处：《重庆医科大学学报》2022年第3期313-318,共6页Journal of Chongqing Medical University

摘　　要：目的:探讨Menkes病的临床特征、影像学表现及基因突变特点。方法:分析7例2016年至2021年因“发育落后、癫痫发作”就诊于郑州大学附属儿童医院,经血清铜蓝蛋白测定、头颅磁共振成像、基因检测确诊为Menkes病的男童。结果:7例患儿于2~6月龄起病,智力运动落后,头发稀疏卷曲,皮肤白,肌张力低下,面容异常,5例伴有抽搐。2例患儿喂养困难,瘫软无力,合并骨折及佝偻病改变。7例患儿血清铜蓝蛋白明显降低,红细胞及血红蛋白降低,血乳酸升高。头颅MRA可见特异性的血管走形迂曲,并存在分支稀疏,头颅MRI示硬膜下积液、脑白质髓鞘发育落后、颅内出血、基底节区及胼胝体异常信号、脑萎缩外,尚有皮层软化坏死、含铁血黄素沉积等。2例患儿自发骨折,1例患儿有明显的佝偻病样骨病。7例患儿均检出ATP7A基因突变,其中5个为未报道的新突变。结论:本研究7例患儿经临床、生化、影像及基因检查确诊为Menkes病,发现ATP7A基因5个新的突变,指导患者家族的遗传咨询和产前诊断,丰富了Menkes病致病基因突变谱。在国内首次报道了Menkes合并骨折的病例。Objective:To investigate the clinical phenotypes,imaging and genetic features of Menkes disease(MD). Methods:Seven children were analyzed who were diagnosed as MD by serum ceruloplasmin determination,brain magnetic resonance imaging and gene detection in Children’s Hospital Affiliated to Zhengzhou University from 2016 to 2021. Results:All the 7 cases had the onset to MD at the age of 2 to 6 months,with backward intelligence and movement,sparse and curly hair,white skin,low muscle tone,abnormal hair and face;5 cases were accompanied by convulsions;2 children had feeding difficulties,weakness,fracture and rickets.Serum ceruloplasmin,erythrocyte and hemoglobin decreased and blood lactate increased in 7 children. MRA of the head showed specific tortuous blood vessels and sparse branches. MRI of the head showed subdural effusion,backward development of myelin sheath in white matter,intracranial hemorrhage,abnormal signals in basal ganglia and corpus callosum,brain atrophy,cortical softening and necrosis,hemosiderin deposition,etc. Two children had spontaneous fracture,and one child had obvious rickets-like bone disease.ATP7A gene mutations were detected in 7 children,of which 5 were unreported new mutations. Conclusion:Among the 7 children in this study diagnosed as MD by clinical,biochemical,imaging and genetic examination,5 new mutations of ATP7A gene were found,which guided the family genetic counseling and prenatal diagnosis,and enriched the mutation spectrum of pathogenic genes of MD. A case of MD complicated with fracture was reported for the first time in China.

关 键 词：MENKES病 血管迂曲 ATP7A基因 骨折 

分 类 号：R725.8[医药卫生—儿科]