Second Department of Neurology, Institute of Psychiatry and Neurology, 02-957 Warsaw, Poland.
Department of Neurophysiology, Institute Psychiatry and Neurology, 02-957 Warsaw, Poland.
Discov Med. 2024 Apr;36(183):646-654. doi: 10.24976/Discov.Med.202436183.61.
Wilson's disease (WD) is an inherited disorder of copper metabolism in which pathological copper accumulation, mainly in the liver and the brain, leads to hepatic and/or neuropsychiatric signs and symptoms. Chelators and zinc salts can successfully induce negative copper balance in many patients; however, neurological deterioration may still be observed. This phenomenon can be divided into: (1) early 'paradoxical' neurological deterioration, which usually develops in the first 6 months of anti-copper treatment and may be commonly related to drug type, or (2) late neurological deterioration, which mostly occurs after 6 months of treatment and is often related either to non-compliance with treatment, overtreatment resulting in copper deficiency, or adverse drug reactions. Another explanation, especially for early neurological deterioration, is natural WD progression, which can be difficult to differentiate from drug-related deterioration, but usually leads to a worse outcome. There is still no consensus on how to define neurological deterioration in WD using scales or biomarkers, how to distinguish it from the natural disease progression, its risk factors, and optimal management. This narrative review, based on the current literature, aims to provide definitions, prevalence, pathological mechanisms and factors related to neurological deterioration, and also proposes schemes for diagnosis and treatment.
威尔逊病(WD)是一种遗传性铜代谢紊乱疾病,其病理铜积累主要发生在肝脏和大脑,导致肝和/或神经精神症状和体征。螯合剂和锌盐可以成功地诱导许多患者产生负铜平衡;然而,仍可能观察到神经恶化。这种现象可以分为:(1)早期“矛盾”的神经恶化,通常在抗铜治疗的前 6 个月内发生,可能与药物类型有关,或(2)晚期神经恶化,主要发生在治疗 6 个月后,通常与治疗不依从、铜缺乏导致的过度治疗或药物不良反应有关。另一种解释,特别是对于早期神经恶化,是 WD 的自然进展,这很难与药物相关的恶化区分开来,但通常会导致更糟糕的结果。目前仍没有关于如何使用量表或生物标志物定义 WD 中的神经恶化、如何将其与自然疾病进展区分开来、其危险因素以及最佳管理的共识。本综述基于当前文献,旨在提供神经恶化的定义、患病率、病理机制和相关因素,并提出诊断和治疗方案。