Email this article MYH9-related inherited thrombocytopenia
- Authors: Suntsova E.V.1, Kalinina M.P.1, Aksenova M.E.2, Arseneva A.E.1, Playsunova S.A.1, Raikina E.V.1, Mersianova I.V.1, Demina I.A.1, Goronkova O.V.1, Maschan A.A.1, Novichkova G.A.1
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Affiliations:
- National Research Center of Pediatric Hematology, Oncology and Immunology named after Dmitry Rogachev
- National 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. Pirogov
- Issue: Vol 16, No 1 (2017)
- Pages: 40-48
- Section: Статьи
- Submitted: 10.08.2018
- Published: 10.02.2017
- URL: https://hemoncim.com/jour/article/view/79
- DOI: https://doi.org/10.24287/1726-1708-2017-16-1-40-48
- ID: 79
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Abstract
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.
About the authors
E. V. Suntsova
National Research Center of Pediatric Hematology, Oncology and Immunology named after Dmitry Rogachev
Author for correspondence.
Email: elena.suncova@fccho-moscow.ru
MD, Department of Transfusion medicine
Russia 117997, Moscow, Samory Mashela st., 1
+7 (495) 287-6570, ext. 5567
Russian FederationM. P. Kalinina
National Research Center of Pediatric Hematology, Oncology and Immunology named after Dmitry RogachevRussian Federation
M. E. Aksenova
National Research Center of Pediatric Hematology, Oncology and Immunology named after Dmitry RogachevResearch Clinical Institute of Pediatrics named after academician Y.E. Veltishev of the Russian National Research Medical University named after N.I. Pirogov
Russian Federation
A. E. Arseneva
National Research Center of Pediatric Hematology, Oncology and Immunology named after Dmitry RogachevRussian Federation
S. A. Playsunova
National Research Center of Pediatric Hematology, Oncology and Immunology named after Dmitry RogachevRussian Federation
E. V. Raikina
National Research Center of Pediatric Hematology, Oncology and Immunology named after Dmitry RogachevRussian Federation
I. V. Mersianova
National Research Center of Pediatric Hematology, Oncology and Immunology named after Dmitry RogachevRussian Federation
I. A. Demina
National Research Center of Pediatric Hematology, Oncology and Immunology named after Dmitry RogachevRussian Federation
O. V. Goronkova
National Research Center of Pediatric Hematology, Oncology and Immunology named after Dmitry RogachevRussian Federation
A. A. Maschan
National Research Center of Pediatric Hematology, Oncology and Immunology named after Dmitry RogachevRussian Federation
G. A. Novichkova
National Research Center of Pediatric Hematology, Oncology and Immunology named after Dmitry RogachevRussian Federation
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