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.

The incidence of juvenile Hereditary Hemochromatosis caused by HAMP gene mutation is low, which is rarely reported in China. This patient took abnormal liver function as the first symptom, and was finally diagnosed by genetic testing and hepatic histopathology, and treated by venous bloodletting.

Genetic cholestatic liver disease is a type of disease caused by several different gene mutations, with cholestasis as the main manifestation, and is usually rare. Although these diseases differ in pathophysiology, clinical manifestations, and prognosis, they all possess the common feature of cholestasis. To this end, the European Association for the Study of the Liver published the EASL Clinical Practice Guidelines for Genetic Cholestatic Liver Disease in 2024, which provide a general approach to the management of cholestatic pruritus, detailed information on the diagnosis and treatment method of certain hereditary cholestatic liver diseases, and put forward recommendations on diagnosis and treatment with the aim to assist hepatologists (pediatric and adult) in implementing the latest diagnostic and management strategies.

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.

Wilson disease (WD), also known as hepatolenticular degeneration, is an autosomal recessive inherited disorder of copper metabolism that primarily affects the liver, brain, and other organs. The diagnostic criteria include clinical features, biochemical tests (plasma ceruloplasmin, 24-hour urinary copper, liver copper content), and molecular genetic analysis. The Leipzig scoring system, supplemented by the use of exchangeable copper, is recommended for diagnosis. Pharmacotherapy mainly includes chelating agents (such as penicillamine and trientine) and zinc salts. Chelating agent therapy is recommended only for patients with severe liver disease. Patient monitoring is primarily based on clinical symptoms, liver biochemical indices, and copper metabolism parameters (such as 24-hour urinary copper and exchangeable copper) to identify poor adherence as well as over-treatment or under-treatment situations. The diagnosis and treatment of acute liver failure with WD is extremely challenging, as the diagnosis is difficult and medical treatment cannot save life. The role of liver transplantation has been clearly recognized in the treatment of acute liver failure with WD, and it may also be considered in cases with neurological involvement.

The incidence of juvenile Hereditary Hemochromatosis caused by HAMP gene mutation is low, which is rarely reported in China. This patient took abnormal liver function as the first symptom, and was finally diagnosed by genetic testing and hepatic histopathology, and treated by venous bloodletting.

Genetic cholestatic liver disease is a type of disease caused by several different gene mutations, with cholestasis as the main manifestation, and is usually rare. Although these diseases differ in pathophysiology, clinical manifestations, and prognosis, they all possess the common feature of cholestasis. To this end, the European Association for the Study of the Liver published the EASL Clinical Practice Guidelines for Genetic Cholestatic Liver Disease in 2024, which provide a general approach to the management of cholestatic pruritus, detailed information on the diagnosis and treatment method of certain hereditary cholestatic liver diseases, and put forward recommendations on diagnosis and treatment with the aim to assist hepatologists (pediatric and adult) in implementing the latest diagnostic and management strategies.

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.

Wilson disease (WD), also known as hepatolenticular degeneration, is an autosomal recessive inherited disorder of copper metabolism that primarily affects the liver, brain, and other organs. The diagnostic criteria include clinical features, biochemical tests (plasma ceruloplasmin, 24-hour urinary copper, liver copper content), and molecular genetic analysis. The Leipzig scoring system, supplemented by the use of exchangeable copper, is recommended for diagnosis. Pharmacotherapy mainly includes chelating agents (such as penicillamine and trientine) and zinc salts. Chelating agent therapy is recommended only for patients with severe liver disease. Patient monitoring is primarily based on clinical symptoms, liver biochemical indices, and copper metabolism parameters (such as 24-hour urinary copper and exchangeable copper) to identify poor adherence as well as over-treatment or under-treatment situations. The diagnosis and treatment of acute liver failure with WD is extremely challenging, as the diagnosis is difficult and medical treatment cannot save life. The role of liver transplantation has been clearly recognized in the treatment of acute liver failure with WD, and it may also be considered in cases with neurological involvement.

Wilson's disease (WD) is a kind of inherited metabolic liver disease in which most patients need lifelong medication to maintain copper homeostasis in the body. Zinc is one of the most commonly used drugs for WD treatment. However, there are currently few high-quality, large-sample, and prospective clinical trials on zinc agent-treated WD. The selection and application of zinc agents are mainly based on patients' clinical phenotype, tolerance to zinc agents, and physicians' experience in treating WD. This article summarizes the application of zinc agents in WD.