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Wilson病：治疗和预后

Author
Michael L Schilsky, MD, FAASLD
Section Editor
Bruce A Runyon, MD
Deputy Editor
Anne C Travis, MD, MSc, FACG, AGAF
Translators
郭津生, 主任医师

引言

Wilson病(肝豆状核变性)是常染色体隐性遗传的细胞内铜输出缺陷。铜自胆汁中的排泄减少，导致铜的沉积，最初是在肝脏，随后沉积于其他组织，尤其是脑。组织中铜沉积会引起反映肝脏、神经系统、血液系统及肾脏受损的许多体征和症状。铜和铜蓝蛋白的结合也受到损害。

患者最常表现为肝脏疾病(范围从无症状的血清氨基转移酶或胆红素浓度升高，至暴发性肝功能衰竭至慢性肝炎)或神经精神疾病[1]。 (参见“威尔逊病：临床表现、诊断和自然病程”，关于‘临床表现’一节)

本专题将总结Wilson病的治疗。其流行病学、发病机制、临床表现和诊断将单独讨论。 (参见“肝豆状核变性：流行病学和发病机制”和“威尔逊病：临床表现、诊断和自然病程”和“威尔森病：诊断性试验”)

Wilson病的治疗指南包括美国肝病研究协会American Association for the Study of Liver Diseases发布的2008年共识指南(表 1)[2,3]和欧洲肝脏研究协会European Association for the Study of the Liver2012年发布的指南[4]。我们的治疗方法与这些指南基本一致。

药物治疗

Wilson病患者需进行终生治疗，主要目标为治疗铜过载，治疗应包括两个阶段：清除组织中已经沉积的铜或对其解毒，以及防止铜的再沉积。通过使用强效螯合剂来达到清除铜的目的。主要使用的螯合剂为青霉胺。然而，约30%的患者因副作用而不能耐受长期青霉胺治疗，并且对于有神经系统症状患者，该药可能不是首选治疗。曲恩汀传统上用作不能耐受青霉胺患者的二线药物，但作为初始治疗也是合理的选择，并因其副作用发生率较低可作为优选治疗。尚无对照试验比较这两种药物，因此对它们的使用推荐意见主要基于观察性数据和临床经验[5]。

                                

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Literature review current through: 2017-06 . | This topic last updated: 2016-11-29.
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