ABSTRACT. Metals are an integral part of various enzymes and take part in a variety of redox reactions. Genetic regulation of cellular copper metabolism is carried out by P-type ATPases transporting copper and altered mutations in the ATP7B gene, which is located in the trans-Golgi network of hepatocytes and brain and maintains the balance of copper levels due to excessive release of copper into bile and plasma. An imbalance of copper leads to an inherited disorder such as Wilson-Konovalov disease. It is a rare autosomal recessive disease known as hepatolenticular degeneration with multiple phenotypes that include liver, corneal, neurological and psychiatric disorders or a mixed combination of these manifestations, affecting the quality of life of patients. Its prevalence is 3.3 per 100,000.
The purpose of our study was to analyze publications devoted to the study of the etiopathogenesis and clinical picture of Wilson-Konovalov disease.
In this review, we examined articles that were searched in the electronic databases PubMed, Web of Science, eLibrary.ru, and Google Scholar. The search included randomized controlled trials, reviews and/or observational studies with or without meta-analysis.
Unbound copper acts as a powerful oxidant and induces the formation of highly reactive hydroxyl radicals, which leads to further lipid peroxidation of cell membranes, damage to DNA, RNA, proteins and mitochondria.
In 60% of cases, the first symptoms are liver disorders. The severity of neurological disorders can vary from subtle symptoms that recur periodically over several years to rapid and acute disorders that lead to complete disability in a short time. Eye damage is also observed, which is manifested by the appearance of Kayser-Fleischer rings and cataracts. In more advanced stages of the disease, almost 100% of adult patients experience behavioral and psychiatric manifestations, such as bipolar affective disorder and psychosis with cognitive decline.
Thus, early diagnosis, careful observation and monitoring of treatment provide favorable results, and lack of treatment leads to death.
KEYWORDS: etiology, pathogenesis, copper metabolism, Wilson disease.
For citation: Pilkevich N.B., Markovskaya V.A., Yavorskaya O.V., Khabibullin R.R., Smirnova A.P. Etiopathogenesis and clinical picture of wilson disease (review). Trace elemets in medicine. 2024;25(4):3−13. DOI: 10.19112/2413-6174-2024-25-4-3-13