Pediatric Hematology/Oncology and ImmunopathologyPediatric Hematology/Oncology and ImmunopathologyВопросы гематологии/онкологии и иммунопатологии в педиатрии1726-17082414-9314Fund Doctors, Innovations, Science for Children7910.24287/1726-1708-2017-16-1-40-48СтатьиMYH9-related inherited thrombocytopeniaНаследственная тромбоцитопения, ассоциированная с мутацией в гене MYH9SuntsovaE. V.СунцоваЕ. В.
Russian Federation

MD, Department of Transfusion medicine

Russia 117997, Moscow, Samory Mashela st., 1

+7 (495) 287-6570, ext. 5567

elena.suncova@fccho-moscow.ruKalininaM. P.КалининаМ. П.
Russian Federation
AksenovaM. E.АксёноваМ. Е.
Russian Federation
ArsenevaA. E.АрсеневаА. Ю.
Russian Federation
PlaysunovaS. A.ПлясуноваС. А.
Russian Federation
RaikinaE. V.РайкинаЕ. В.
Russian Federation
MersianovaI. V.МерсияноваИ. В.
Russian Federation
DeminaI. A.ДёминаИ. А.
Russian Federation
GoronkovaO. V.ГоронковаО. В.
Russian Federation
MaschanA. A.МасчанА. А.
Russian Federation
NovichkovaG. A.НовичковаГ. А.
Russian Federation
National Research Center of Pediatric Hematology, Oncology and Immunology named after Dmitry RogachevФГБУ «Национальный научно-практический центр детской гематологии, онкологии и иммунологии им. Дмитрия Рогачева» Минздрава России, МоскваNational Research Center of Pediatric Hematology, Oncology and Immunology named after Dmitry Rogachev Research Clinical Institute of Pediatrics named after academician Y.E. Veltishev of the Russian National Research Medical University named after N.I. PirogovФедеральная служба по надзору в сфере массовых коммуникаций, связи и охраны культурного наследия. Научно-исследовательский клинический институт педиатрии им. акад. Ю.Е. Вельтищева Российского национального исследовательского медицинского университета им. Н.И. Пирогова Минздрава России, Москва.10022017161404810082018Copyright ©; 2017, «D. Rogachev NMRCPHOI»Copyright ©; 2017, ФГБУ «НМИЦ ДГОИ им. Дмитрия Рогачева» Минздрава России2017«D. Rogachev NMRCPHOI»ФГБУ «НМИЦ ДГОИ им. Дмитрия Рогачева» Минздрава Россииhttps://creativecommons.org/licenses/by/4.0https://hemoncim.com/jour/article/view/79

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 diagnosisof 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.

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