rspНаучно-практическая ревматологияRheumatology Science and Practice1995-44841995-4492IMA-PRESS, LLC10.47360/1995-4484-2022-630-637rsp-3255Research ArticleКЛИНИЧЕСКИЙ СЛУЧАЙCLINICAL OBSERVATIONСиндром СнеддонаSneddon syndrome: A rare diagnosishttps://orcid.org/0000-0001-8266-6022АндрияшкинаД. Ю.AndriyashkinaD. Yu.

Андрияшкина Дарья Юрьевна

117997, Москва, ул. Островитянова, 1

Darya Andriyashkina

117997, Moscow, Ostrovitianova str., 1

andryashkina.darya@yandex.ruhttps://orcid.org/0000-0001-9152-3234КондрашовА. А.KondrashovA. A.

117997, Москва, ул. Островитянова, 1

117997, Moscow, Ostrovitianova str., 1

https://orcid.org/0000-0003-4669-1006ШостакН. А.ShostakN. А.

117997, Москва, ул. Островитянова, 1

117997, Moscow, Ostrovitianova str., 1

https://orcid.org/0000-0001-6890-8777ДемидоваН. А.DemidovaN. A.

117997, Москва, ул. Островитянова, 1

117997, Moscow, Ostrovitianova str., 1

https://orcid.org/0000-0002-3963-1999ЮдинД. В.YudinD. V.

117997, Москва, ул. Островитянова, 1

117997, Moscow, Ostrovitianova str., 1

https://orcid.org/0000-0003-2182-1134КулаковД. Ю.KulakovD. Yu.

117997, Москва, ул. Островитянова, 1

117997, Moscow, Ostrovitianova str., 1

https://orcid.org/0000-0002-4795-4229АветисянГ. Р.AvetisianG. R.

117997, Москва, ул. Островитянова, 1

117997, Moscow, Ostrovitianova str., 1

ФГАОУ ВО «Российский национальный исследовательский медицинский университет им. Н.И. Пирогова» Минздрава РоссииРоссияN.I. Pirogov Russian National Research Medical UniversityRussian Federation202226122022606630637Copyright © Андрияшкина Д.Ю., Кондрашов А.А., Шостак Н.А., Демидова Н.А., Юдин Д.В., Кулаков Д.Ю., Аветисян Г.Р., 20222022Андрияшкина Д.Ю., Кондрашов А.А., Шостак Н.А., Демидова Н.А., Юдин Д.В., Кулаков Д.Ю., Аветисян Г.Р.Andriyashkina D.Y., Kondrashov A.A., Shostak N.А., Demidova N.A., Yudin D.V., Kulakov D.Y., Avetisian G.R.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://rsp.mediar-press.net/rsp/article/view/3255

Приведен клинический случай рецидивирующих острых нарушений мозгового кровообращения у больного молодого возраста, которому диагностирован синдром Снеддона. У пациента выявлены полиморфизмы генов: гомозиготный 4G/5G – в гене ингибитора активатора плазминогена-1 (PAI-1), С807Т – в гене гликопротеина I (GpIa), Т1565С – в гене гликопротеина III (GpIIIа), G1639A – в гене эпоксидредуктазы витамина К (VKORC1), – а также повышение уровня гомоцистеина, которые являлись факторами риска тромбоза.

The study objective is to demonstrate a rare cause of recurrent acute cerebrovascular diseases in a young patient – Sneddon syndrome. The patient revealed gene polymorphism: homozygous 4G/5G in the plasminogen activator inhibitor-1 (PAI-1) gene, C807T in the glycoprotein I gene (GPIa), T1565C in the glycoprotein III gene (GPIIIa), G1639A in the vitamin K epoxide reductase gene (VKORC1), increased homocysteine, which were risk factors for thrombosis.

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