Antos Agnieszka, Członkowska Anna, Bembenek Jan, Skowronska Marta, Kurkowska-Jastrzębska Iwona, Litwin Tomasz
Second Department of Neurology, Institute of Psychiatry and Neurology, 9 Sobieskiego Str., 02-957 Warsaw, Poland.
Department of Clinical Neurophysiology, Institute of Psychiatry and Neurology, 02-957 Warsaw, Poland.
Diagnostics (Basel). 2023 Apr 26;13(9):1554. doi: 10.3390/diagnostics13091554.
Wilson's disease (WD) is an inherited disorder of copper metabolism with clinical symptoms related to pathological copper accumulation, which are mainly hepatic and/or neuropsychiatric. The disease is potentially treatable with pharmacological agents (chelators or zinc salts). As such, key factors for a favorable treatment outcome are early diagnosis and anti-copper treatment initiation as well as appropriate treatment monitoring for safety and efficacy. Despite the generally favorable outcome in most treated patients, almost 10% of the general population of WD patients and about 25% of patients in the group with initial neurological phenotype of disease experience early neurological deterioration. In almost 50% of patients with neurological symptoms, the symptoms persist. A search for new treatment modalities (e.g., gene therapy, molybdenum salts) aims to prevent early neurological deterioration as well as improve treatment outcomes. In addition to evaluating the clinical signs and symptoms of the disease, serum biomarkers for diagnosis and treatment monitoring are very important for WD management. Sensitive serum biomarkers of copper metabolism and liver injury are well described. However, there is a need to establish blood-based biomarkers of central nervous system (CNS) injury to help identify patients at risk of early neurological deterioration and aid in their monitoring. Based on the available literature and studies of WD patients, the authors reviewed serum biomarkers of CNS involvement in WD, as well as their potential clinical significance.
威尔逊病（WD）是一种遗传性铜代谢紊乱疾病，其临床症状与病理性铜蓄积有关，主要表现为肝脏和/或神经精神症状。该疾病可用药物（螯合剂或锌盐）进行潜在治疗。因此，获得良好治疗效果的关键因素是早期诊断、开始抗铜治疗以及对安全性和有效性进行适当的治疗监测。尽管大多数接受治疗的患者总体预后良好，但在WD患者的普通人群中，近10%以及疾病初始具有神经学表型的患者组中约25%会出现早期神经功能恶化。在几乎50%有神经症状的患者中，症状持续存在。寻找新的治疗方式（如基因治疗、钼盐）旨在预防早期神经功能恶化并改善治疗效果。除了评估该疾病的临床体征和症状外，用于诊断和治疗监测的血清生物标志物对WD的管理非常重要。铜代谢和肝损伤的敏感血清生物标志物已得到充分描述。然而，需要建立基于血液的中枢神经系统（CNS）损伤生物标志物，以帮助识别有早期神经功能恶化风险的患者并辅助对其进行监测。基于现有的文献和对WD患者的研究，作者综述了WD中CNS受累的血清生物标志物及其潜在的临床意义。
