D. Y. Andriyashkina, A. Kondrashov, N. Shostak, N. Demidova, D. Yudin, D. Kulakov, G. R. Avetisian
{"title":"Sneddon syndrome: A rare diagnosis","authors":"D. Y. Andriyashkina, A. Kondrashov, N. Shostak, N. Demidova, D. Yudin, D. Kulakov, G. R. Avetisian","doi":"10.47360/1995-4484-2022-630-637","DOIUrl":null,"url":null,"abstract":"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.","PeriodicalId":21518,"journal":{"name":"Rheumatology Science and Practice","volume":"3 1","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2022-12-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Rheumatology Science and Practice","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.47360/1995-4484-2022-630-637","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
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Abstract
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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