Wilson’s disease (OMIM277900), also known as hepatomegaly, or WD, is a disorder of copper metabolism that primarily affects the liver and nervous system. The incidence of WD is approximately 1:50,000 and is caused by a defect in the function of the WD protein (encoded by the ATP7B gene). The pathogenic mechanism is not fully elucidated. The protein encoded by the WD gene that has been isolated and identified belongs to the P-type ATPase cation transporter protein, which is thought to be involved in the transport of copper ions. Mutations in the WD gene lead to progressive accumulation of copper in the tissues and cause damage to the corresponding organs. It is generally believed that neurological impairment is secondary to hepatic copper spillage, and some improvement in neurological symptoms has been observed in WD patients after liver transplantation. Clinical manifestations: The main symptoms are liver disease and neurological damage, and neurological symptoms are common, with liver disease symptoms being more common in female patients and neurological symptoms in male patients. The symptoms of liver disease can appear at any age, but mostly appear at the age of 8~18. Children under 14 years old rarely show neurological symptoms, and mostly appear at the age of 20~40 years old in adulthood. Liver disease symptoms may manifest as acute phase symptoms such as jaundice, hemolysis, and liver failure. Dysarthria, loss of coordination, involuntary movements, postural and phonological disturbances are common neurological symptoms. Patients can progress to medullary atrophy or even death without treatment. The most diagnostic sign in WD is the presence of KF ring (Kayser-Fleisher ring): a copper-blue ring around the cornea. The iris rim is sometimes visible as golden-brown granules to the naked eye and often needs to be observed under a slit lamp. The main laboratory tests are a marked decrease in serum copper cyanine (ceruloplasmin) and an elevation in non-copper cyanine copper, and a moderate decrease in total serum copper. Urinary copper excretion was increased, and the increase was more pronounced after oral administration of penicillamine. Serum copper cyanine is also considered an acute phase-responsive protein that manifests as a nonspecific elevation during some disease episodes. Neurological examinations are usually combined with EEG, CT and MRI findings, with MRI often showing decreased basal ganglia density. Diagnosis and prevention: Diagnosis is mainly based on clinical symptoms, copper measurements and the presence of KF rings. Chain analysis and gene mutation testing are more reliable methods for heterozygote diagnosis and prenatal diagnosis. Special attention is paid to differentiate the disease from Menkes’ disease, as the two have similar laboratory tests but different treatment principles and can generally be distinguished by clinical manifestations. WD is one of the few treatable human monogenic diseases. Traditionally, penicillamine has been used for treatment, but there are many reports of toxic side effects and irreversible symptoms of liver disease after discontinuation of the drug. TTM is also considered to be a promising copper repellent agent. Hemodialysis or copper repellent therapy can achieve toxic effects in controlling blood copper but cannot regenerate damaged hepatocytes, therefore WD is an indication for liver transplantation. Whether penicillamine causes fetal damage is controversial, and treatment with zinc or TTM is recommended for pregnant women with WD. Genetic counseling: The disease is an autosomal recessive disorder. The global incidence of WD is approximately 30 per million, with a gene frequency of 0.56% and a heterozygote frequency of 1/90. The incidence is higher in Mediterranean regions.