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优化肝豆状核变性患者长期随访的注意事项。

Considerations for optimizing Wilson's disease patients' long-term follow-up.

机构信息

Departamento de Endoscopia, Servicio de Medicina Interna, Hospital General de Zona N.° 30, Instituto Mexicano del Seguro Social (IMSS), Mexicali, Baja California, México; Facultad de Medicina, Universidad Autónoma de Baja California (UABC), Mexicali. Baja California, México.

Servicio de Hepatología, Hospital Clínic, IDIBAPS, Barcelona, España.

出版信息

Gastroenterol Hepatol. 2022 Feb;45(2):146-154. doi: 10.1016/j.gastrohep.2021.03.015. Epub 2021 May 28.

Abstract

Wilson's disease is a sistemic genetic disease caused by the excessive accumulation of copper. The first and main involvement is in the liver, which can range from mild and transient elevation of transaminases to the onset of an overt cirrhosis or acute liver failure. It is known that up to 20-30% of these patients may evolve to liver cirrhosis during follow-up. In clinical practice, liver fibrosis is assessed mainly by using indirect and non-invasive tools (laboratory tests, liver elastography, ultrasound), similar to other prevalent chronic liver diseases. However, despite the fact that liver elastography is a valuable tool in general hepatology, the evidence of its usefulness and accuracy in Wilsońs disease is scarce. This review summarizes the available scientific data and their limitations in Wilson's disease.

摘要

威尔逊病是一种由铜过度积累引起的系统性遗传疾病。最初和主要的受累器官是肝脏,其表现从轻度和短暂的转氨酶升高到明显的肝硬化或急性肝功能衰竭不等。据了解,在随访过程中,这些患者中多达 20-30%可能发展为肝硬化。在临床实践中,主要通过间接和非侵入性工具(实验室检查、肝脏弹性成像、超声)来评估肝纤维化,类似于其他常见的慢性肝病。然而,尽管肝脏弹性成像在一般肝脏病学中是一种有价值的工具,但在威尔逊病中其有用性和准确性的证据仍然有限。本综述总结了威尔逊病中可用的科学数据及其局限性。

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