Наследственная тромбоцитопения, ассоциированная с мутацией в гене MYH9

Inherited thrombocytopenia caused by mutations in MYH9 gene, is one of the forms of inherited platelet disorders. Currently, it comprises a group of diseases previously known as: Mey–Hegglin anomaly, Epstein syndrome, Fechtner syndrome, Sebastian syndrome. These syndromes are characterized by macrothrombocytopenia, and development of non-hematological manifestations such as sensorineural hearing loss, cataract and progressive nephropathy. Finding of large forms of platelets in blood smears and specific inclusions in neutrophils in immunofluorescence staining are simple methods for early diagnosis of this form of inherited thrombocytopenia, molecular-genetic analysis helps to detect the specific  mutations. This article is described a clinical case of a 9-years old child with MYH9-related inherited thrombocytopenia, having typical clinical picture and confirmed by molecular-genetic analysis. It illustrated that the administration of agonist TPO-receptors may be effective for prevention of bleeding in this form of inherited thrombocytopenia.