【摘 要】
：
目的 在近几年的临床实践中,我们发现部分运动障碍患者伴有血浆铜蓝蛋白(Ceruloplasmin,Cp)水平降低,其血清总铜降低与24 h尿铜排泄增加,但并不伴有角膜K-F环阳性、肝功能损害、肾功能损害等,大部分患者无遗传家族史,难以诊断为Wilson病(WD).目前,该组患者长期处于不明诊断状态,缺乏有效的针对性治疗方法.迄今为止,我们尚未见到国内、外类似的研究报道.方法 2003年1月至200
【机 构】
：
复旦大学附属中山医院神经内科,上海200032 复旦大学附属中山医院儿科研究所生化室,上海2000
【出 处】
：
中国神经科学学会第四次会员代表大会暨第七届全国学术会议(The 7th Biennial Meeting and the
论文部分内容阅读
目的 在近几年的临床实践中,我们发现部分运动障碍患者伴有血浆铜蓝蛋白(Ceruloplasmin,Cp)水平降低,其血清总铜降低与24 h尿铜排泄增加,但并不伴有角膜K-F环阳性、肝功能损害、肾功能损害等,大部分患者无遗传家族史,难以诊断为Wilson病(WD).目前,该组患者长期处于不明诊断状态,缺乏有效的针对性治疗方法.迄今为止,我们尚未见到国内、外类似的研究报道.方法 2003年1月至2006年6月在复旦大学附属中山医院神经内科门诊和病房就诊的运动障碍患者,符合下述条件拟诊为低铜蓝蛋白血症相关性运动障碍：不符合WD诊断标准,且Cp等于或低于0.20 g/L,血清铜低于0.80 μg/L、24小时尿铜等于或大于70μg；经颅脑CT或/和MRI排除基底节钙化等其它变性病变,实验室检查排除甲状旁腺功能异常、肝功能损害、肾功能损害、严重营养不良、低蛋白血症、严重贫血、门客斯病(Menkes disease,MD)及既往肝炎史等相关疾患和疾病史者.研究同时设无亲缘关系的正常对照组(男20名女5名,为健康志愿者并经遗传咨询证实家族中无WD及其他遗传病史)和同期确诊的WD对照组(6例).在知情同意的情况下,低铜蓝蛋白血症相关性运动障碍患者接受青霉胺试验性治疗三个月.
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