Extrahepatic manifestations of Wilson disease

Abstract

The article presents a brief review of current data on the etiology, pathogenesis, diagnosis and treatment of Wilson disease. Wilson-Konovalov disease (Wilson’s disease, hepatolenticular degeneration, hepatocerebral dystrophy) is a rare severe hereditary autosomal recessive disease caused by homozygous or compound heterozygous mutations (the presence of two different mutant alleles) in the ATP7B gene encoding transmembrane copper-transporting ATPase that mediates the excretion of copper into bile and delivers copper for the synthesis of ceruloplasmin. The article also presents a clinical observation of a young patient with an unrecognized onset of the disease in the form of psychiatric disorders. Subsequently, due to the increase in hepatocellular insufficiency in the form of persistent icteric syndrome, hepatic encephalopathy, decreased protein-synthetic function and coagulation factors, the patient was hospitalized in a multidisciplinary hospital, where a diagnosis of Wilson-Konovalov disease was established.