【病例讨论】难得一见的高清K-F环
这个帖子发布于 13 年零 112 天前，其中的信息可能已发生改变或有所发展。
治疗前K-F环表现
An 18-year-old woman presented with color and temperature changes in her hands, as well as intermittent tremor of the hands since the age of 15 years. She also reported involuntary right arm movements and difficulties with concentration. Physical examination of the eyes revealed bilateral Kayser–Fleischer rings (Panel A, arrows). Neurologic examination revealed dystonia of the right arm, a postural tremor of her arms and legs, mild dysphagia and dysarthria, and bradykinesia. Laboratory tests revealed elevated serum levels of alanine aminotransferase, aspartate aminotransferase, and γ-glutamyltransferase, as well as low serum levels of ceruloplasmin (0.02 g per liter; reference range, 0.2 to 0.5) and copper (4.1 μmol per liter; reference range, 11 to 22); the urinary copper excretion was elevated, at 12.8 μmol per 24 hours (reference range, 0 to 1). Magnetic resonance imaging of the patient's brain revealed widespread signal change, gliosis, and atrophy in the basal ganglia, thalami, and brain stem. A diagnosis of Wilson's disease was made and confirmed on genetic testing by a result of a compound heterozygous mutation in the gene ATP7B. Approximately 5 years after the initiation of iron-chelating treatment, the Kayser–Fleischer rings had resolved almost completely (Panel B), and there was stabilization in neurologic status and MRI findings。
患者，女，18岁，出现双手颜色及温度改变，从15岁开始出现双手间歇性的震颤。同时她诉说右上肢不自主运动并随意运动困难。体格检查显示双眼K-F环。神经系统检查显示右上肢肌张力障碍，上肢及下肢姿势性震颤，轻度失语及构音障碍，运动迟缓。实验室检查显示血清丙氨酸氨基转氨酶、天冬氨酸氨基转移酶和γ谷氨酸转移酶升高，血清铜蓝蛋白降低(0.02 g每升; 参考范围, 0.2 到 0.5) ，血清铜 (4.1 μmol每升; 参考范围, 11 到 22)，尿铜排泄增加，24小时内为12.8 μmol(参考范围, 0 to 1)。MRI显示患者脑内出现广泛的信号改变，胶质增生，双侧基底节、丘脑和脑干萎缩。该患者诊断为肝豆状核变性，基因检测显示ATP7B基因复合型杂合突变。在驱铜治疗5年后，患者眼部K-F环逐渐变淡消失，神经系统与MRI发现渐趋于稳定。
治疗5年后基本消失
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