Research progress on Wilson's disease

Abstract

Hepatolenticular degeneration, also known as Wilson's disease, is an autosomal recessive genetic disease caused by ATP7B on chromosome 13q14.3. Due to abnormal copper metabolism, copper ions accumulated in the body accumulate in the liver, brain, kidneys, cornea, and other organs, causing different clinical symptoms and onset ages. Early diagnosis plays a crucial role in subsequent treatment, but due to the significant differences in clinical symptoms, accurate diagnosis is still challenging at present. This review summarizes the etiology and pathogenesis, clinical characteristics, diagnostic methods, imaging features, pathological changes, and treatment methods of Wilson's disease.