ymjЯкутский медицинский журналYakut Medical Journal1813-19052312-1017ЯНЦ КМПymj-961Research ArticleМатериалы научно-практической конференции с международным участием «Современные подход ы и перспектив ы генетических исследовани й в Якутии », 7 сентября 2017 г., г. ЯкутскMaterials of the scientific-practical conference with international participation «Modern App roaches and Prospects of Genetic Research in Yakutia», September 7, 2017, YakutskГенетические факторы риска тромбофилии у пациентки с ишемическим инсультомGenetic risk factors of thrombofilia in a young ischemic stroke patient (clinical case report)ЧугуноваС. А.ChugunovaS. A.

 Чугунова Саргылана Афанасьевна – к.м.н., доцент 

 Chugunova Sargylana Afanasyevna - Candidate of Medical Sciences, Associate Professor of the Department of Neurology and Psychiatry  

 Yakutsk 

sa.chugunova@mail.ruНиколаеваТ. яNikolaevaT. Ya.

 Николаева Татьяна Яковлевна – д.м.н. проф., зав. кафедрой 

 Nikolaeva Tatiana Yakovlevna - doctor of medical sciences, professor, Head of Neurology and Psychiatry Department 

 Yakutsk 

ИгнатьеваА. В.IgnatievaA. V.

 Игнатьева Анна Васильевна – врачневролог Региональн. сосудист. центра 

 Ignatieva Anna Vasilyevna – neurologist, Regional Vascular Center 

 Yakutsk 

ПоповМ. М.PopovM. M.

Попов Михаил Михайлович – зав. отд. МРТ  

 Popov Mikhail Mikhailovich - Head of the MRI Department  

 Yakutsk 

МИ СВФУ им. М.К. АммосоваРоссияMedical Institute, NorthEastern Federal UniversityRussian FederationРБ№2-Центра экстренной мед. помощиРоссияRepublican Hospital No. 2-CEMPRussian Federation201722082025036568Copyright © Чугунова С.А., Николаева Т.я., Игнатьева А.В., Попов М.М., 20252025Чугунова С.А., Николаева Т.я., Игнатьева А.В., Попов М.М.Chugunova S.A., Nikolaeva T.Y., Ignatieva A.V., Popov M.M.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://ymj.elpub.ru/jour/article/view/961

Представлен случай ишемического инсульта у молодой пациентки на фоне тромбоза базилярной артерии, в результате которого развилась тяжелая общемозговая и очаговая неврологическая симптоматика. Установлено носительство трех вариантов полиморфизмов генов, ассоциированных с риском тромбоза и ишемического инсульта: генотип GA полиморфизма – 455 G>A гена FGB, генотип CT полиморфизма 807 C>T гена ITGA2, генотип 4G/4G полиморфизма 5G>4G гена PAI-I. Тромбофилия на фоне носительства данных генетических вариантов в сочетании с антифосфолипидным синдромом, измененным иммунным статусом явились предрасполагающими факторами развития ишемического инсульта в вертебро-базилярной системе у пациентки в молодом возрасте.

Stroke is a multifactorial disease. The stroke pathogenesis is caused by a combination of several risk factors. A determination of the genetic predisposition to stroke is especially important for young patients. Understanding the stroke development mechanisms is extremely useful for adequate treatment and secondary prevention of the disease. We present the case report of ischemic stroke in the young patient with basilar artery thrombosis and severe neurological symptoms. Diagnostics included the clinical, neurological, neuroimaging, ultrasound, immunological, molecular-genetic examination. Genotyping of polymorphisms of hemostasis system’s genes FV, FII, FVII, FXIII, FGB, ITGA2, ITGB3, PAI-I was conducted. It was found the carrying of the three polymorphisms associated with the thrombosis and ischemic stroke risk: genotype GA polymorphism - 455 G> A gene FGB, genotype CT polymorphism 807 C> T ITGA2 gene, 4G / 4G genotype of polymorphisms 5G> 4G gene PAI-I. Thrombophilia due to the carrying of these genetic variants in combination with an antiphospholipid syndrome, altered immune status, were predisposition factors of vertebro-basilar’s system ischemic stroke in the young patient.

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The authors declare that there are no conflicts of interest present.