Advances and challenges in the diagnosis and treatment of Wilson disease

Wilson disease （WD） is a disorder of copper metabolism caused by mutations in the ATP7B gene. Traditional diagnosis mainly relies on the Leipzig scoring system， while copper chelators and zinc preparations are mainly used for treatment. In recent years， the continuous emergence of various techniques has provided additional tools for the early detection and disease assessment of WD， such as novel assays targeting non-ceruloplasmin-bound copper， immunohistochemistry for metallothionein in liver tissue， and 64Cu positron emission tomography-computed tomography imaging. Meanwhile， the new formulation trientine tetrahydrochloride and the potential novel agent methanobactin provide new drugs for safe and efficient copper removal， and gene therapy has brought new hope for clinical cure of WD. This article systematically reviews the recent advances in the diagnosis and treatment of WD， discusses their advantages and limitations in a real-world setting， and proposes new ideas for future clinical practice and research.