PDF(Pubmed)
Abstract：
The understanding and management of Wilson disease (WD) have dramatically improved since the first description of the disease by K. Wilson more than a century ago. However, the persistent long delay between the first symptoms and diagnosis emphasizes challenges in diagnosing earlier this copper overload disorder. As a treatable disease, WD should be detected early in the course of the disease by any health professionals at any care level, but the rare prevalence of the disease explains the lack of awareness of referring physicians. The most important challenge is to train physicians to recognize atypical or rare symptoms of WD that will lead to discuss the diagnosis more systematically. Atypia can come from the age of onset, the liver [non-alcoholic steatohepatitis (NASH) presentation], the central or peripheral nervous system (neuropathy, epilepsy, sleep disorders…) or may be due to lesions of other organs (renal manifestations, osteo-articular disorders or endocrine disturbances). Isolated biological anomalies, rare radiological findings or inadequate interpretation of copper test may also lead to misdiagnosis. The second challenge is to confirm the diagnosis faster and more effectively so as not to delay the initiation of treatment, and expand family screening as the genetic prevalence is higher than previously expected. Generalization of the exchangeable copper assay and the next generation sequencing (NGS) are two promising ways to overcome this ultimate challenge. By drawing attention to the earliest and rare symptoms and to new biomarkers and diagnostic tools, we hope that this article will increase diagnostic awareness and reduce delays so that patients can start their treatment earlier in the course of the illness and thus have a better disease prognosis.
摘要：
自从一个多世纪前K.Wilson首次描述该病以来，对Wilson病（WD）的理解和管理已大大提高。然而,最初症状和诊断之间的持续长时间延迟强调了早期诊断这种铜超负荷疾病的挑战。作为一种可治疗的疾病，WD应在疾病过程的早期由任何护理级别的任何卫生专业人员检测到，但是这种疾病的罕见流行解释了转诊医生缺乏意识。最重要的挑战是训练医生识别WD的非典型或罕见症状，这将导致更系统地讨论诊断。异位症可以从发病年龄开始，肝脏[非酒精性脂肪性肝炎（NASH）表现]，中枢或周围神经系统（神经病，癫痫,睡眠障碍...）或可能是由于其他器官的病变（肾脏表现，骨关节紊乱或内分泌紊乱)。孤立的生物异常,罕见的放射学发现或铜测试的解释不足也可能导致误诊。第二个挑战是更快，更有效地确认诊断，以免延误治疗的开始，并扩大家庭筛查，因为遗传患病率高于先前的预期。可交换铜测定和下一代测序（NGS）的推广是克服这一最终挑战的两种有希望的方法。通过关注最早和罕见的症状以及新的生物标志物和诊断工具，我们希望本文能提高诊断意识，减少延误，以便患者在病程中更早开始治疗，从而获得更好的疾病预后。
