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Osteopetrosis is a hereditary disease with an autosomal recessive or autosomal dominant type of inheritance, caused by a disruption in the functional activity of osteoclasts due to gene mutation. The article systematizes data on etiology, classification, pathomorphology, gene disorders based on the analysis of 38 sources of literature, and deals with the modern approaches to the treatment of osteopetrosis. Three types of osteopetrosis with different severity degrees of skeletal disorders and pathological severity are described. The main pathomorphological changes in the structural organization of bone tissue are presented and features of the state of osteoclasts are shown depending on the mutation of genes controlling their functional activity. There are no protocols for the treatment of this pathology, but treatment methods based on the use of hematopoietic stem cells are under development. The paper presents with clinical case report of a patient with marble bone disease.
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