Wilson Disease

Wilson disease (hepatolenticular degeneration) is an autosomal-recessive ATP7B defect causing impaired biliary copper excretion and copper accumulation. Clinical: liver disease (hepatitis/cirrhosis), neuropsychiatric symptoms (tremor, dystonia, dysarthria, psychosis), Kayser-Fleischer corneal rings, and renal involvement. Treat early with copper chelation (D-penicillamine, trientine), zinc acetate, and low-copper diet; liver transplant for fulminant/decompensated disease.

Common Symptoms

Chronic liver disease/cirrhosis; tremor/dystonia/dysarthria; neuropsychiatric symptoms; Kayser-Fleischer rings; low ceruloplasmin

Causes and Pathogenesis

ATP7B mutation impairs biliary copper excretion/ceruloplasmin formation; copper accumulates in liver, brain, cornea, kidney causing toxicity.

Treatment

Copper chelation (D-penicillamine/trientine); zinc acetate; low-copper diet; liver transplant for fulminant failure

Preventive Measures

Family screening; early diagnosis; lifelong treatment adherence.

Department to Visit

It is recommended to visit the Gastroenterology department; an appointment can be booked on this platform before the visit.

Warm reminder: The above information is for health science reference only and cannot replace professional medical diagnosis. If you have related symptoms, please seek medical attention at a regular hospital promptly.