Brewer G J, Turkay A, Yuzbaziyan-Gurkan V
Department of Human Genetics, University of Michigan Medical School, Ann Arbor.
Arch Neurol. 1994 Mar;51(3):304-5. doi: 10.1001/archneur.1994.00540150106026.
To report a case of presymptomatic Wilson's disease in a patient who became severely neurologically disabled after treatment with penicillamine and to discuss alternative initial therapy for such patients.
Case report. The patient described is briefly compared with a previously studied group of 13 similar presymptomatic patients who received zinc therapy without any clinical worsening and who have had 3 to 9 years of follow-up.
Referral hospital.
The patient was referred to us.
The patient had initially been treated with penicillamine.
The main outcome of interest is permanent neurologic disability, depending on type of initial treatment.
The result of initial penicillamine therapy in the patient described is permanent neurologic disability. This is believed to be due to mobilization and redistribution of hepatic copper causing higher levels of copper in key areas of the brain.
We conclude that penicillamine used as initial therapy, even in patients with neurologically asymptomatic Wilson's disease, increases the risk of inducing permanent neurologic damage.
报告一例经青霉胺治疗后出现严重神经功能障碍的症状前威尔逊病患者，并讨论此类患者的替代初始治疗方法。
病例报告。将所描述的患者与先前研究的一组13名类似的症状前患者进行简要比较，这些患者接受了锌治疗，未出现任何临床恶化情况，且已进行了3至9年的随访。
转诊医院。
该患者被转诊至我们这里。
患者最初接受了青霉胺治疗。
主要关注的结果是永久性神经功能障碍，这取决于初始治疗的类型。
所描述患者最初使用青霉胺治疗的结果是永久性神经功能障碍。据信这是由于肝脏铜的动员和重新分布导致大脑关键区域铜水平升高所致。
我们得出结论，即使是神经无症状的威尔逊病患者，使用青霉胺作为初始治疗也会增加诱发永久性神经损伤的风险。
