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Journal of Clinical Hepatology ; (12): 1497-1504, 2023.
Artículo en Chino | WPRIM | ID: wpr-978813

RESUMEN

In hepatolenticular degeneration, also known as Wilson's disease (WD), the binding of copper to ceruloplasmin is impaired, resulting in the deposition of free copper mainly in the liver, brain, and other organs. The prevalence rate of WD was 1/30 000. In clinical practice, most WD patients are young adults and are characterized by extrapyramidal symptoms, liver cirrhosis, Kayser-Fleischer ring of the cornea, low serum ceruloplasmin level ( 100 mg/L). At present, pharmacotherapy is the main treatment method for WD, and in some cases of end-stage liver disease or acute liver failure, liver transplantation is an option to improve survival rate. This article reviews the research advances in the pathogenesis of hepatolenticular degeneration, phenotype-genotype relationship, and pharmacotherapy in China and globally.

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