Wilson’s disease (OMIM277900), also known as hepatomegaly, or WD, is a disorder of copper metabolism that primarily involves the liver and nervous system. The incidence of WD is about 1:50,000, and it is caused by a defect in the function of the WD protein (encoded by the ATP7B gene). The pathogenesis of WD has not been fully elucidated. The protein encoded by the WD gene that has been isolated and characterized belongs to the P-type ATPase cation transporter proteins, which are thought to be involved in the transport of copper ions. Mutations in the WD gene lead to progressive accumulation of copper in the tissues, causing damage to the corresponding organs. It is generally accepted that neurologic damage is secondary to hepatic copper overflow, and neurologic symptoms are somewhat improved in WD patients after liver transplantation. Clinical manifestations: mainly symptoms of liver disease and neurological damage, and neurological symptoms are common, liver disease symptoms are more common in female patients, and neurological symptoms are common in male patients. Liver disease symptoms can appear at any age, but most often appear in the age of 8 to 18 years. children under 14 years old rarely show neurological symptoms, and most often appear in the age of 20 to 40 years of adulthood. Symptoms of liver disease may manifest as acute phase symptoms such as jaundice, hemolysis, and liver failure. Dysarthria, loss of coordination, involuntary movements, postural and tonal deficits are common neurologic symptoms. Patients may progress to medullary atrophy or even death without treatment. Mental retardation is not a feature of the disease, and renal tubular acidosis is common in patients with WD.The most diagnostic sign in WD is the presence of a KF ring (Kayser-Fleisherring): a copper-blue ring around the cornea. The rim of the iris is sometimes granular and golden-brown to the naked eye, often under a slit lamp. Laboratory tests are characterized by a marked decrease in serum ceruloplasmin and elevation of non-copper blue copper, and a moderate decrease in total serum copper. Urinary copper excretion is increased, and the increase is more pronounced with oral penicillamine. Serum copper blue protein is also recognized as an acute phase reactive protein, which manifests itself as a nonspecific elevation during some disease episodes. Neurologic examination is usually combined with findings on EEG, CT and MRI, with MRI often showing decreased basal ganglia density. Diagnosis and prevention: the diagnosis is mainly based on clinical symptoms, copper measurements and the presence of the KF ring. Chain analysis and gene mutation examination are more reliable methods for heterozygote diagnosis and prenatal diagnosis. Special attention is paid to differentiate it from Menkes disease, because both laboratory tests are similar, but the treatment principle is different, and it can generally be differentiated by clinical manifestations. WD is one of the few treatable human monogenic disorders, as it is mainly caused by the accumulation of copper, which leads to organ damage, and is mainly treated with copper repellent therapy. 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 liver damage after discontinuation of the drug. Currently, zinc therapy is considered to be an effective and safe treatment, as zinc competitively binds to metallothionein and promotes the dissociation of copper and its excretion.TTM is also considered to be a promising copper repellent. Hemodialysis or copper repellent therapy achieves control of the toxic effects of blood copper but does not regenerate damaged hepatocytes, making WD 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. Heterozygotes are asymptomatic, with about 10% showing reduced serum copper and copper blue protein, and biochemical diagnosis of heterozygotes is currently difficult.The global incidence of WD is about 30/million, with a gene frequency of 0.56% and a heterozygote frequency of 1/90.The Mediterranean region has a high incidence of WD.The incidence of WD in the Mediterranean region is high.