Catana Andreea M, Medici Valentina
Andreea M Catana, Valentina Medici, Division of Gastroenterology and Hepatology, Department of Internal Medicine, University of California, Davis, Sacramento, CA 95817, United States.
World J Hepatol. 2012 Jan 27;4(1):5-10. doi: 10.4254/wjh.v4.i1.5.
The aim of this paper is to review the current status of liver transplantation (LT) for Wilson disease (WD), focusing on indications and controversies, especially in patients with neuropsychiatric disease, and on identification of acute liver failure (ALF) cases related to WD. LT remains the treatment of choice for patients with ALF, as initial presentation of WD or when anti-copper agents are stopped, and for patients with chronic liver disease progressed to cirrhosis, unresponsive to chelating medications or not timely treated with copper chelating agents. The indication for LT in WD remains highly debated in patients with progressive neurological deterioration and failure to improve with appropriate medical treatment. In case of Wilsonian ALF, early identification is key as mortality is 100% without emergency LT. As many of the copper metabolism parameters are believed to be less reliable in ALF, simple biochemical tests have been proposed for diagnosis of acute WD with good sensitivity and specificity. LT corrects copper metabolism and complications resulting from WD with excellent 1 and 5 year survival. Living related liver transplantation represents an alternative to deceased donor LT with excellent long-term survival, without disease recurrence. Future options may include hepatocyte transplantation and gene therapy. Although both of these have shown promising results in animal models of WD, prospective human studies are much needed to demonstrate their long-term beneficial effects and their potential to replace the need for medical therapy and LT in patients with WD.
本文旨在综述肝豆状核变性（WD）肝移植（LT）的现状，重点关注适应证及争议，尤其是神经精神疾病患者的情况，以及与WD相关的急性肝衰竭（ALF）病例的识别。LT仍然是ALF患者、WD初始表现患者或停用抗铜剂患者，以及慢性肝病进展为肝硬化、对螯合药物无反应或未及时接受铜螯合剂治疗患者的首选治疗方法。对于进行性神经功能恶化且经适当药物治疗后无改善的WD患者，LT的适应证仍存在高度争议。在Wilsonian ALF的情况下，早期识别至关重要，因为若无紧急LT，死亡率为100%。由于许多铜代谢参数在ALF中被认为不太可靠，已提出简单的生化检查用于诊断急性WD，其敏感性和特异性良好。LT可纠正WD导致的铜代谢及并发症，1年和5年生存率极佳。活体亲属肝移植是尸体供肝LT的替代选择，长期生存率极佳，且无疾病复发。未来的选择可能包括肝细胞移植和基因治疗。尽管这两种方法在WD动物模型中均显示出有前景的结果，但仍非常需要前瞻性人体研究来证明它们的长期有益效果以及在WD患者中替代药物治疗和LT的潜力。
