Research advances in the genotype-phenotype correlation, diagnosis, treatment, and screening of Wilson's disease

Wilson's disease ( WD) is a treatable hereditary disease, and its pathological basis is the deposition of a large amount of copper in the liver, the brain, and other organs due to copper metabolic disorder caused by ATP7 B gene mutation. The clinical manifestation of WD varies greatly among patients, and common features of this disease include progressive liver disease and neurological symptoms. Different mutation sites of the ATP7 B gene are observed in different regions. Correlation between ATP7 B genotype and clinical manifestation of WD can help to predict the onset, type, and severity of WD, but there are still controversies over the current research findings. At present, Leipzig score is widely accepted as the diagnostic criteria for WD, and a patient can be diagnosed with WD when Leipzig score is greater than or equal to 4. The treatment of WD aims to reduce copper overload by different mechanisms, and effective treatment methods include drug therapy, liver transplantation, and plasma exchange. Patients with early diagnosis and treatment tend to have good prognosis, and therefore, it is of great significance to carry out WD screening among the direct relatives of WD proband.