perinatologyРоссийский вестник перинатологии и педиатрииRossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics)1027-40652500-2228Ltd. “The National Academy of Pediatric Science and Innovation”10.21508/1027-4065-2020-65-6-22-28perinatology-1286Research ArticleОБЗОРЫ ЛИТЕРАТУРЫLITERATURE REVIEWSПатогенетические аспекты повреждений головного мозга при болезни Вильсона–КоноваловаPathogenetic Aspects of Brain Lesions in Wilson–Konovalov Diseasehttps://orcid.org/0000-0002-1580-0380СальковВ. Н.SalkovV. N.

Сальков Владимир Николаевич – д.м.н., ст. науч. сотр. лаборатории нейроморфологии 

105064 Москва, пер. Обуха, д. 5 

Moscow

vla-salkov@yandex.ruhttps://orcid.org/0000-0002-6951-3918ХудоерковР. М.KhudoerkovR. M.

Худоерков Рудольф Михайлович – д.м.н., гл. науч. сотр. лаборатории нейроморфологии 

105064 Москва, пер. Обуха, д. 5 

Moscow

https://orcid.org/0000-0002-0552-6939СухоруковВ. С.SukhorukovV. S.

Сухоруков Владимир Сергеевич – д.м.н., проф., зав. лабораторией нейроморфологии

105064 Москва, пер. Обуха, д. 5

Moscow

ФГБНУ «Научный центр неврологии»РоссияResearch Center of NeurologyRussian Federation2020190120216562228Copyright © Ltd. “The National Academy of Pediatric Science and Innovation”, 20212021Ltd. “The National Academy of Pediatric Science and Innovation”Ltd. “The National Academy of Pediatric Science and Innovation”https://www.ped-perinatology.ru/jour/about/submissions#copyrightNoticehttps://www.ped-perinatology.ru/jour/article/view/1286

Болезнь Вильсона–Коновалова – наследуемое по аутосомно-рецессивному типу заболевание, вызванное мутациями гена ATP7B. При мутациях указанного гена происходит нарушение транспорта меди, что приводит к ее накоплению в клетках печени и нейроглии головного мозга. Накопление меди в нервной ткани наблюдается в период от первого до пятого десятилетия жизни. Кроме того, при этом заболевании страдает метаболизм железа, которое накапливается в астроцитах и макрофагах. Накопление указанных металлов приводит к морфологическим изменениям глиальных клеток: изменению формы астроцитов, формированию промежуточных типов микроглии, увеличению ее размеров и отеку олигодендроглии, а в тяжелых случаях – к уменьшению числа нейронов и деструкции миелиновых нервных волокон.

The Wilson–Konovalov disease is the autosomal recessive hereditary disease caused by ATP7B gene mutation. With the mutations of the gene specified, the copper transport is disrupted, which causes its accumulation in the liver cells and neuroglia of the brain. The copper accumulation in the nervous tissue is observed in the period from the first to the fifth decade of life. In addition, this disease affects the metabolism of iron, which accumulates in the astrocytes and macrophages. The accumulation of these metals leads to the morphological changes in the glial cells, as follows: changes in the shape of astrocytes, formation of the transition types of microglia and increase in its size, and edema of the oligodendroglia, and in the severe cases, the decrease in the number of the neurons and destruction of the myelinated fibers.

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The authors declare that there are no conflicts of interest present.