Arizona Liver Health, Phoenix, Arizona, USA.
AdventHealth for Children, AdventHealth Transplant Institute, Orlando, Florida, USA.
Hepatol Commun. 2023 May 15;7(6). doi: 10.1097/HC9.0000000000000150. eCollection 2023 Jun 1.
Wilson disease (WD) is caused by autosomal variants affecting the ATP7B gene on chromosome 13, resulting in alterations in physiological copper homeostasis and copper accumulation. Excess copper clinically manifests in many organs, most often in the central nervous system and liver, ultimately causing cirrhosis and death. Often considered a pediatric or young adult disease, WD actually affects patients of all ages, and aging patients need to be regularly managed with long-term follow-up. Despite over a century of advances in diagnosis and treatment, WD is still associated with diagnostic challenges and considerable disability and death, in part due to delays in diagnosis and limitations in treatment. Standard-of-care treatments are considered generally effective when the diagnosis is timely but are also limited by efficacy, safety concerns, multiple daily dosing, and adherence. This expert perspective review seeks to facilitate improvements in the awareness, understanding, diagnosis, and management of WD. The objectives are to provide a full overview of WD and streamline updated diagnosis and treatment guidance, as recently published by the American Association for the Study of Liver Diseases, in a practical way for clinical use.
威尔逊病（WD）是由影响染色体 13 上 ATP7B 基因的常染色体变异引起的，导致生理铜稳态和铜积累的改变。过量的铜在临床上会在许多器官中表现出来，最常见于中枢神经系统和肝脏，最终导致肝硬化和死亡。WD 通常被认为是一种儿科或青年期疾病，但实际上影响所有年龄段的患者，老年患者需要定期进行长期随访管理。尽管在诊断和治疗方面取得了一个多世纪的进展，但 WD 仍然与诊断挑战以及相当大的残疾和死亡相关，部分原因是诊断延迟和治疗受限。当诊断及时时，标准治疗被认为是有效的，但也受到疗效、安全性问题、每日多次给药和依从性的限制。本专家观点综述旨在促进提高对 WD 的认识、理解、诊断和管理。目的是以实用的方式为临床应用提供全面的 WD 概述，并简化美国肝病研究协会最近发布的更新诊断和治疗指南。
