摘要： 肝豆状核变性又称Wilson 病，是经过治疗可以得到有效控制的神经遗传性疾病之一。发病隐匿，临床表现多样，容易误诊。由于Wilson 病属于少见疾病，许多临床医师由于缺乏临床经验，在治疗上可能存在误区。早期诊断和合理治疗对改善Wilson 病患者的预后至关重要，误诊误治可能造成不可逆性损害。本文通过阅读近年国内外文献并结合多年临床经验，对Wilson 病诊断与治疗过程中易遇到的问题进行概述，并提出应对措施以供临床医师参考。

关键词: 肝豆状核变性, 诊断, 药物疗法, 肝移植, 综述

Abstract: Wilson's disease (WD) is a treatable inherited neurology disease. Given the insidious onset and variable manifestation, WD is sometimes misdiagnosed. Due to the scarcity of this disease, clinicians usually lack of the experience of treatment. It is critical to diagnose and treat WD as early as possible because delayed or inappropriate treatment may cause irreversible damage to patients. According to our clinical experience and by reviewing recent literature, we would like to introduce some common challenges and strategies in the treatment of WD and wish it will be helpful to clinicians.

Key words: Hepatolenticular degeneration, Diagnosis, Drug therapy, Liver transplantation, Review