Latest advances in the treatment of hepatolenticular degeneration / 临床肝胆病杂志

ABSTRACT

Hepatolenticular degeneration (HLD) is an autosomal recessive liver disease associated with copper metabolism disorders. Mutations in the ATP7B gene on chromosome 13 result in impaired transmembrane transport of copper ions, which in turn leads to excessive deposition of copper in the liver, brain, cornea, kidney, and bone joints (mainly in the liver and the brain). Early diagnosis and treatment can significantly reduce tissue damage and improve the prognosis of patients. American Association for the Study of Liver Diseases issued the guidelines for the diagnosis and treatment of HLD in 2008, and the European Association for the Study of the Liver released such guidelines in 2012. This article summarizes the recent research advances in China and foreign countries to give an overview of the treatment of HLD.