Case of early diagnosis of hereditary thrombophilia in a 16 days child
E. V. Podsvirova,
E. A. Balakireva,
T. A. Romanova,
M. I. Churnosov,
N. A. Rudykh,
O. V. Golovchenko,
N. B. Yudina https://doi.org/10.21508/1027-4065-2019-64-3-82-86
Abstract
The article describes a clinical case of early diagnosis of hereditary thrombophilia in a child in the neonatal period, based on clinical, laboratory and genetic examination. Clinical suspicion to hereditary hemostatic disorders, careful analysis of hereditary and family history allowed to identify and confirm with the help of PCR polymorphism of genes associated with hemostatic system in a child of two weeks of age. Early diagnosis allows to make an individual plan of observation and dynamic examination to prevent increased thrombosis and possible vascular catastrophe in the child, to prevent metabolic and hemostatic disorders in both the mother and her relatives, and in the probable future siblings of the patient, and in the long term and in his descendants.
About the Authors
E. V. Podsvirova
National Research Belgorod State University
Russian Federation
Russian Federation
E. A. Balakireva
National Research Belgorod State University
Russian Federation
Russian Federation
T. A. Romanova
National Research Belgorod State University
Russian Federation
Russian Federation
M. I. Churnosov
National Research Belgorod State University
Russian Federation
Russian Federation
N. A. Rudykh
National Research Belgorod State University
Russian Federation
Russian Federation
O. V. Golovchenko
National Research Belgorod State University
Russian Federation
Russian Federation
N. B. Yudina
Voronezh regional hospital №1
Russian Federation
Russian Federation
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Review
For citations:
Podsvirova E.V., Balakireva E.A., Romanova T.A., Churnosov M.I., Rudykh N.A., Golovchenko O.V., Yudina N.B. Case of early diagnosis of hereditary thrombophilia in a 16 days child. Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics). 2019;64(3):82-86. (In Russ.) https://doi.org/10.21508/1027-4065-2019-64-3-82-86
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