In Wilson disease (WD), mutations in the gene encoding the ATP7B copper transport protein causes accumulation of copper especially in liver and brain. WD typically presents with hepatic and/or neuropsychiatric symptoms. Impaired cognition is a well-described feature in patients with neurological WD, while the reports on cognition in hepatic WD patients are fewer and less conclusive. We examined cognition in a cohort of WD patients with both phenotypes. In this cross-sectional pilot study, we investigated cognition in 28 stable Danish WD patients by the PortoSystemic Encephalopathy (PSE) and the Continuous Reaction Time (CRT) tests. Half of the patients were female, and their median age was 35.5 years (IQR 24.5). Their phenotype was hepatic in 14 (50%), neurologic in 10 (36%) and mixed in 4 (14%). The duration of treatment was > 2 year in all patients, and their condition was stable as judged by urinary copper excretion, liver enzymes, and clinical assessment. The hepatic patients did not show signs of liver failure. In total, 16 (57%) patients performed worse than normal in the PSE and/or the CRT tests. The two tests were correlated (rho = 0.60, p = 0.0007), but neither correlated with phenotype, MELD-, Child–Pugh score, 24 h-U-Cu, or treatment type. Measurable cognitive impairment was present in more than half of the stable WD patients independent of phenotype. Thus, our data questions the existence of a purely hepatic phenotype.

在威尔逊病 (WD) 中，编码 ATP7B 铜转运蛋白的基因突变导致铜的积累，尤其是在肝脏和大脑中。WD 通常表现为肝脏和/或神经精神症状。认知障碍是神经性 WD 患者的一个很好描述的特征，而关于肝 WD 患者认知的报道越来越少。我们检查了一组具有两种表型的 WD 患者的认知能力。在这项横断面初步研究中，我们通过门体系统性脑病 (PSE) 和连续反应时间 (CRT) 测试调查了 28 名稳定的丹麦 WD 患者的认知。半数患者为女性，中位年龄为 35.5 岁（IQR 24.5）。他们的表型在 14 人 (50%) 中为肝脏，在 10 人 (36%) 中为神经系统，在 4 人 (14%) 中为混合型。治疗时间> 所有患者均2年，经尿铜排泄、肝酶及临床评估判断病情稳定。肝病患者没有表现出肝功能衰竭的迹象。总共有 16 名 (57%) 患者在 PSE 和/或 CRT 测试中表现比正常人差。这两个测试是相关的（rho = 0.60，p  = 0.0007），但与表型、MELD-、Child-Pugh 评分、24 hU-Cu 或治疗类型均不相关。超过一半的稳定型 WD 患者存在可测量的认知障碍，与表型无关。因此，我们的数据质疑纯肝脏表型的存在。