Shribman Samuel, Marjot Thomas, Sharif Abubakar, Vimalesvaran Sunitha, Ala Aftab, Alexander Graeme, Dhawan Anil, Dooley James, Gillett Godfrey T, Kelly Deirdre, McNeill Alisdair, Warner Thomas T, Wheater Valerie, Griffiths William, Bandmann Oliver
Reta Lila Weston Institute, UCL Queen Square Institute of Neurology, London, UK.
Oxford Liver Unit, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
Lancet Gastroenterol Hepatol. 2022 Jun;7(6):560-575. doi: 10.1016/S2468-1253(22)00004-8. Epub 2022 Apr 13.
Wilson's disease is an autosomal-recessive disorder of copper metabolism with hepatic, neurological, psychiatric, ophthalmological, haematological, renal, and rheumatological manifestations. Making a diagnosis can be challenging given that no single test can confirm or exclude the disease, and diagnostic delays are common. Treatment protocols vary and adverse effects, including paradoxical neurological worsening, can occur. In this Review, we provide a practical guide to the diagnosis of Wilson's disease. We include recommendations on indications for testing, how to interpret results, and when additional investigations are required. We also cover treatment initiation, ideally under the guidance of a specialist centre for Wilson's disease, and the principles behind long-term management. This guidance was developed by a multidisciplinary group of Wilson's disease experts formed through the British Association for the Study of the Liver. The guidance has been endorsed by the British Society of Gastroenterology and approved by the Association of British Neurologists.
威尔逊氏病是一种常染色体隐性铜代谢紊乱疾病，具有肝脏、神经、精神、眼科、血液、肾脏和风湿方面的表现。鉴于没有单一的检测方法能够确诊或排除该病，因此做出诊断具有挑战性，诊断延迟很常见。治疗方案各不相同，可能会出现包括矛盾性神经功能恶化在内的不良反应。在本综述中，我们提供了一份诊断威尔逊氏病的实用指南。我们包括关于检测指征、如何解读结果以及何时需要进一步检查的建议。我们还涵盖了治疗的启动，理想情况下是在威尔逊氏病专科中心的指导下进行，以及长期管理背后的原则。本指南由通过英国肝脏研究协会组建的威尔逊氏病专家多学科小组制定。该指南已得到英国胃肠病学会的认可，并获得英国神经学家协会的批准。
