[Progress on the research of hepatolenticular degeneration]

Hepatolenticular degeneration, also known as Wilson disease (WD), is a type of copper metabolism disorder caused by an ATP7B gene variant, which is manifested by the abnormal accumulation of copper in the liver and other organs, resulting in multisystem damage. This article summarizes the latest research progress, with an emphasis on clinical characteristics, analysis of the optimization of diagnostic technology, and the clinical application of novel copper chelator therapy, as well as the development status and future prospects of gene therapy for WD. Future research should focus on the in-depth analysis of the mechanism, the application of multidimensional precision diagnosis technology, the development of individualized treatment plans, and the development of multicenter clinical trials in order to improve the comprehensive treatment effects and quality of life for patients with WD.