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The Dysprothrombinemias due to Arg596 Mutations: A Conundrum With No Bleeding Tendency and Venous Thrombosis due to Antithrombin Resistance.

作者信息

Girolami Antonio, Ferrari Silvia, Cosi Elisabetta, Randi Maria Luigia

机构信息

1 Department of Medicine, University of Padua Medical School, Padua, Italy.

出版信息

Clin Appl Thromb Hemost. 2019 Jan-Dec;25:1076029619841701. doi: 10.1177/1076029619841701.

DOI:10.1177/1076029619841701
PMID:30968704
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6714930/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/177a/6714930/001d7b7bb171/10.1177_1076029619841701-fig1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/177a/6714930/001d7b7bb171/10.1177_1076029619841701-fig1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/177a/6714930/001d7b7bb171/10.1177_1076029619841701-fig1.jpg

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The Dysprothrombinemias due to Arg596 Mutations: A Conundrum With No Bleeding Tendency and Venous Thrombosis due to Antithrombin Resistance.由精氨酸596突变引起的凝血酶原异常血症：一个因抗凝血酶抵抗而无出血倾向和静脉血栓形成的难题。
Clin Appl Thromb Hemost. 2019 Jan-Dec;25:1076029619841701. doi: 10.1177/1076029619841701.
2
Congenital prothrombin defects: they are not only associated with bleeding but also with thrombosis: a new classification is needed.先天性凝血酶原缺陷：它们不仅与出血有关，还与血栓形成有关：需要一种新的分类方法。
Hematology. 2018 Mar;23(2):105-110. doi: 10.1080/10245332.2017.1359900. Epub 2017 Aug 1.
3
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Missense mutations in the gene encoding prothrombin corresponding to Arg596 cause antithrombin resistance and thrombomodulin resistance.编码凝血酶原的基因中的错义突变对应于 Arg596，导致抗凝血酶抵抗和血栓调节蛋白抵抗。
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本文引用的文献

1
In vitro exploration of latent prothrombin mutants conveying antithrombin resistance.体外探索具有抗凝血酶抵抗性的潜伏凝血酶原突变体。
Thromb Res. 2017 Nov;159:33-38. doi: 10.1016/j.thromres.2017.09.020. Epub 2017 Sep 20.
2
Clinical and biochemical characterization of the prothrombin Belgrade mutation in a large Serbian pedigree: new insights into the antithrombin resistance mechanism.在一个大型塞尔维亚家族中对凝血酶原贝城突变的临床和生化特征进行研究：对抗凝血酶抵抗机制的新见解。
J Thromb Haemost. 2017 Apr;15(4):670-677. doi: 10.1111/jth.13618. Epub 2017 Feb 24.
3
New Prothrombin Mutation (Arg596Trp, Prothrombin Padua 2) Associated With Venous Thromboembolism.
与静脉血栓栓塞相关的新型凝血酶原突变（Arg596Trp，凝血酶原帕多瓦2型）
Arterioscler Thromb Vasc Biol. 2016 May;36(5):1022-9. doi: 10.1161/ATVBAHA.115.306914. Epub 2016 Mar 24.
4
A novel prothrombin mutation in two families with prominent thrombophilia--the first cases of antithrombin resistance in a Caucasian population.两个具有显著血栓形成倾向的家族中发现一种新型凝血酶原突变——白种人群中首例抗凝血酶抵抗病例。
J Thromb Haemost. 2013 Oct;11(10):1936-9. doi: 10.1111/jth.12367.
5
Congenital prothrombin deficiency: an update.先天性凝血酶原缺乏症：更新。
Semin Thromb Hemost. 2013 Sep;39(6):596-606. doi: 10.1055/s-0033-1348948. Epub 2013 Jul 12.
6
Molecular defect of 'Prothrombin Amrita': substitution of arginine by glutamine (Arg553 to Gln) near the Na(+) binding loop of prothrombin.“凝血酶安姆丽塔”的分子缺陷：凝血酶钠离子结合环附近精氨酸被谷氨酰胺取代（精氨酸553变为谷氨酰胺）
Blood Cells Mol Dis. 2013 Mar;50(3):182-3. doi: 10.1016/j.bcmd.2012.11.008. Epub 2012 Dec 21.
7
Thrombosis from a prothrombin mutation conveying antithrombin resistance.由携带抗凝血酶抵抗的凝血酶原突变引起的血栓形成。
N Engl J Med. 2012 Jun 21;366(25):2390-6. doi: 10.1056/NEJMoa1201994.
8
Congenital bleeding disorders of the vitamin K-dependent clotting factors.维生素K依赖凝血因子的先天性出血性疾病。
Vitam Horm. 2008;78:281-374. doi: 10.1016/S0083-6729(07)00014-3.
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Prothrombin Saint-Denis: a natural variant with a point mutation resulting in Asp to Glu substitution at position 552 in prothrombin.凝血酶原圣丹尼丝：一种天然变体，存在一个点突变，导致凝血酶原第552位的天冬氨酸被谷氨酸替代。
Br J Haematol. 2006 Mar;132(6):770-3. doi: 10.1111/j.1365-2141.2005.05920.x.
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Substitution of Gly-548 to Ala in the substrate binding pocket of prothrombin Perijá leads to the loss of thrombin proteolytic activity.凝血酶原佩里贾底物结合口袋中甘氨酸548被丙氨酸取代导致凝血酶蛋白水解活性丧失。
Thromb Haemost. 2002 Feb;87(2):282-7.