Диагностика тромботической тромбоцитопенической пурпуры
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Galstyan G.M., Klebanova E.E. Diagnosis of thrombotic thrombocytopenic purpura. Therapeutic Archive. 2020; 92 (12): 207–217. DOI: 10.26442/00403660.2020.12.200508
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Ключевые слова: металлопротеиназа ADAMTS13, фактор фон Виллебранда, ингибитор, мутации гена ADAMTS13, тромботическая тромбоцитопеническая пурпура.
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Thrombotic thrombocytopenic purpura (TTP) is a rare, life-threatening disease, disease, characterised by microangiopathic hemolytic anaemia, consumption thrombocytopenia, and organ dysfunction. The pathogenesis of TTP is attributed to the deficiency in the activity of the metalloproteinase ADAMTS13, specific von Willebrand factor cleaving protease. TTP is suspected when detecting microangiopathic hemolytic anemia, thrombocytopenia, damage to various organs. Diagnosis of TTP is confirmed by the detection of ADAMTS13 activity in plasma less than 10%. Plasma samples for the study of ADAMTS13 activity should be taken before the start of plasma transfusions or plasma exchange. In patients with severe ADAMTS-13 deficiency autoantibodies anti-ADAMTS13 and inhibitor ADAMTS13 should be investigated. Anti-ADAMTS13 antibodies belonging to IgG not always have inhibitory effects. The inhibitory effect of anti-ADAMTS13 antibodies is confirmed by mixing test. All patients with the first established diagnosis of TTP should be examined for mutations of the ADAMTS13 gene.
Keywords: metalloproteinase ADAMTS13, von Willebrand factor, inhibitor, mutations of the ADAMTS13 gene, Thrombotic thrombocytopenic purpura.
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13. Roriz M, Landais M, Desprez J, et al. Risk factors for autoimmune diseases development after thrombotic thrombocytopenic purpura. Med (United States). 2015;94(42):e1598. doi: 10.1097/MD.0000000000001598
14. Van Dorland HA, Taleghani MM, Sakai K, et al. The International Hereditary Thrombotic Thrombocytopenic Purpura Registry: Key findings at enrollment until 2017. Haematologica. 2019;104(10):2107-15. doi: 10.3324/haematol.2019.216796
15. Sánchez-Luceros A, Farías CE, Amaral MM, et al. von Willebrand factor-cleaving protease (ADAMTS13) activity in normal non-pregnant women, pregnant and post-delivery women. Thromb Haemost. 2004;92(6):1320-6. doi: 10.1160/TH03-11-0683
16. [Momot AP, Molchanova IV, Batrak TA, et al. Reference values of hemostatic system parameters in normal pregnancy and after delivery. Problemi reproductcii. 2015;21(1):89-97 (In Russ.)]. doi: 10.17116/repro20152189-97
17. Fakhouri F. Pregnancy-related thrombotic microangiopathies: Clues from complement biology. Transfus Apher Sci. 2016;54(2):199-202. doi: 10.1016/j.transci.2016.04.009
18. Moatti-Cohen M, Garrec C, Wolf M, et al. Unexpected frequency of Upshaw-Schulman syndrome in pregnancy-onset thrombotic thrombocytopenic purpura. Blood. 2012;119(24):5888-97. doi: 10.1182/blood-2012-02-408914
19. Morgand M, Buffet M, Busson M, et al. High prevalence of infectious events in thrombotic thrombocytopenic purpura and genetic relationship with toll-like receptor 9 polymorphisms: Experience of the French Thrombotic Microangiopathies Reference Center. Transfusion. 2014;54(2):389-97. doi: 10.1111/trf.12263
20. Zhaoyue Wang, Ziqiang Yu, Jian Su, et al. Sepsis-induced disseminated intravascular coagulation with features of thrombotic thrombocytopenic purpura: A fatal fulminant syndrome. Clin App Thromb Hemost. 2011;17(3):251-3. doi: 10.1177/1076029609357739
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ФГБУ «Национальный медицинский исследовательский центр гематологии» Минздрава России, Москва, Россия
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G.M. Galstyan, E.E. Klebanova
National Research Center for Hematology, Moscow, Russia