Wilson disease: Current status and the future

摘要

The focus of this minireview is on the current status and new advances in diagnosis and treatment of Wilson disease, an autosomal recessive disorder of copper metabolism. Molecular diagnostics have improved and complements current biochemical and clinical methods for screening for Wilson disease. Screening for Wilson disease in newborns is feasible and has been tested in limited populations, but is not yet widely performed. Identification of patients with Wilson disease as the cause of acute liver failure is possible using standard biochemical tests. Treatments for Wilson disease include chelating agents and zinc salts and liver transplantation. Future therapies may include hepatocyte transplantation and gene therapy, both of which have been tested and shown to work in animal models of Wilson disease. Future human studies await advances in these areas.