Department of Neurology, University of Düsseldorf, Moorenstrasse 5, D-40225 Düsseldorf, Germany.
Parkinsonism Relat Disord. 2018 Apr;49:48-53. doi: 10.1016/j.parkreldis.2018.01.007. Epub 2018 Jan 4.
Aim of the study was to characterize the clinical spectrum of long-term treated patients with Wilson's disease (WD) and to identify risk factors influencing long-term outcome.
In a cross-sectional study 30 WD-patients being treated for at least 2.5 and up to 31 years underwent a detailed clinical investigation, scoring of clinical findings yielding 7 motor and 3 non-motor subscores as well as laboratory testing. A factor analysis of these subscores and laboratory parameters was performed to detect those items with the highest influence on outcome, an ANOVA and subgroup analysis tested the influence of age, age at onset of diagnosis and duration of treatment on outcome. A correlation analysis was performed between clinical subscores and laboratory findings.
Three factors (F1-F3) characterized the clinical outcome (F1: tremor and pathological reflexes; F2: dystonia and dysarthria; F3: cerebellar abnormalities and gait), and three factors the laboratory findings (LF1: serum level of ceruloplasmin; LF2: liver enzymes; LF3: INR). Mildly affected patients had an elevated 24 h urinary copper excretion, more affected patients presented with elevated liver enzymes. Six of the 7 motor subscores did not change with duration of treatment, whereas tremor (p < .04), the total score (p < .02) and especially the non-motor items (p < .001) significantly increased with duration of treatment. The outcome of patients with neuropsychiatric abnormalities was significantly worse (p < .01) compared to the rest of the patients.
Long-term outcome in WD is influenced by patient's compliance and neurological comorbidity.
本研究旨在描述长期接受治疗的 Wilson 病（WD）患者的临床特征，并确定影响长期预后的危险因素。
在一项横断面研究中，30 名 WD 患者接受了至少 2.5 年至长达 31 年的治疗，接受了详细的临床调查，对 7 项运动和 3 项非运动子评分以及实验室检查进行评分。对这些子评分和实验室参数进行因子分析，以检测对结果影响最大的项目，采用 ANOVA 和亚组分析测试年龄、诊断时年龄和治疗持续时间对结果的影响。对临床子评分和实验室发现进行了相关性分析。
三个因素（F1-F3）描述了临床结果（F1：震颤和病理性反射；F2：肌张力障碍和构音障碍；F3：小脑异常和步态），三个因素描述了实验室发现（LF1：血清铜蓝蛋白水平；LF2：肝酶；LF3：INR）。轻度受影响的患者 24 小时尿铜排泄增加，更受影响的患者肝酶升高。7 项运动子评分中，有 6 项评分随治疗时间的延长而不变，而震颤（p<0.04）、总分（p<0.02），尤其是非运动项目（p<0.001）随治疗时间的延长而显著增加。有神经精神异常的患者的预后明显较差（p<0.01），与其余患者相比。
WD 的长期预后受患者的依从性和神经合并症的影响。
