Hepatolenticular degeneration, also known as Wilson's disease, is a congenital disorder of copper metabolism, with the disease cause related to reduced synthesis of ceruloplasmin in the body. It is an autosomal recessive genetic disorder. Due to the accumulation of large amounts of copper in the liver, brain, kidneys, cornea, and other tissues, various clinical symptoms appear, among which neurological symptoms are often more prominent.

bubble_chart Diagnosis

(1) Clinical Manifestations

1. Liver Damage Can occur at any age, with younger patients more prone to liver damage. Symptoms include hepatomegaly, jaundice, and abnormal liver function, often misdiagnosed as viral hepatitis. Liver disease may temporarily improve or recur, or initially present as cirrhosis or even hepatic unconsciousness, rapidly worsening.
2. Neurological Damage Primarily manifests as extrapyramidal symptoms, sometimes accompanied by symptoms of the cerebral cortex, diencephalon, cerebellum, or medulla oblongata. Early symptoms include poor coordination, regression in fine motor skills, limb tremor, difficulty speaking or swallowing, drooling, reduced voluntary movements, and clumsiness. Initial symptoms are subtle but gradually worsen over months. Psychiatric symptoms are another hallmark, with children often exhibiting behavioral abnormalities, emotional disturbances, intellectual disability, or declining academic performance.
3. Other Systemic Symptoms Most patients with liver damage exhibit grade I hemolysis, which may lead to hemolytic anemia. Kidney damage can present as proteinuria, hematuria, or Fanconi syndrome. Copper deposition in the cornea may form Kayser-Fleischer rings (K-F rings), appearing as a brownish-green or yellowish-green pigmented ring at the corneal edge, sometimes detectable only via slit-lamp examination. Many patients exhibit varying degrees of osteoporosis or other skeletal changes, clinically presenting as arthralgia, bone deformities, or spontaneous fractures. (2) Laboratory Findings Serum ceruloplasmin is reduced,< 200mg/L(正常值200～350mg/L );血清銅氧化酶活性低，常<0.1光密度(正常值0.15～0.60);尿排銅增多，24小時尿排銅>normal range 15–30 μg/24h (0.24–0.47 μmol/24h); total serum copper levels are normal or slightly below normal (normal range 13.34–29.83 μmol/L).

bubble_chart Treatment Measures

﹝Treatment﹞

Reduce copper intake in the diet by avoiding or minimizing consumption of copper-rich foods such as liver, shellfish, nuts, chocolate, cocoa, mushrooms, broad beans, peas, corn, squid, etc. To inhibit copper absorption, oral zinc sulfate or zinc acetate can be administered, as zinc suppresses copper absorption. The adult dosage of zinc sulfate is 100–400 mg, taken three times daily, with reduced doses for children. To promote copper excretion, penicillamine can be given at a dosage of 20 mg/kg per day, divided into three doses. Additionally, take 10–20 mg of vitamin B6 three times daily. Penicillamine requires long-term use. Adverse reactions to penicillamine include loss of appetite, nausea, vomiting, abdominal discomfort, fever, arthralgia, lymphadenopathy, and rashes, which typically appear 5–10 days after starting the medication and resolve within 3–5 days after discontinuation. Treatment can then be restarted at half the dose and gradually increased. If necessary, prednisone or antihistamines may be added for 1–2 weeks, after which most patients no longer experience adverse reactions.