Mulligan Caitlin, Bronstein Jeff M
Department of Neurosciences, University of California, San Diego, 9500 Gilman Drive #0886, La Jolla, CA 92092, USA.
Department of Neurology, David Geffen School of Medicine at UCLA, 710 Westwood Plaza, Los Angeles, CA 90095, USA.
Neurol Clin. 2020 May;38(2):417-432. doi: 10.1016/j.ncl.2020.01.005. Epub 2020 Feb 28.
Wilson's disease is one of the few preventable movement disorders in which there are therapies that modify disease progression. This disease is caused by copper overload caused by reduced copper excretion secondary to genetic mutations in the ATP7B gene. Copper overload can lead to a variety of clinical presentations, including neurologic symptoms, liver failure, and/or psychiatric manifestations. There is often a delay in diagnosis of Wilson disease, and awareness of the diagnosis and management is important because of the treatable nature of this condition. This article reviews the clinical presentation, epidemiology, genetics, pathophysiology, diagnosis, and management of Wilson disease.
威尔逊病是少数几种可预防的运动障碍疾病之一，存在能够改变疾病进展的治疗方法。这种疾病是由ATP7B基因突变导致铜排泄减少引起的铜过载所致。铜过载可导致多种临床表现，包括神经症状、肝功能衰竭和/或精神症状。威尔逊病的诊断往往存在延迟，鉴于该病的可治疗性，了解其诊断和管理方法很重要。本文综述了威尔逊病的临床表现、流行病学、遗传学、病理生理学、诊断及管理。
