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血小板黏附综合征:历史与未来展望

Sticky platelet syndrome: history and future perspectives.

作者信息

Kubisz Peter, Ruiz-Argüelles Guillermo J, Stasko Jan, Holly Pavol, Ruiz-Delgado Guillermo J

机构信息

Department of Haematology and Transfusion Medicine, National Center of Haemostasis and Thrombosis, Jessenius Faculty of Medicine in Martin of the Comenius University in Bratislava, University Hospital in Martin, Martin, Slovakia.

Centro de Hematología y Medicina Interna, Clínica Ruiz, Puebla, México.

出版信息

Semin Thromb Hemost. 2014 Jul;40(5):526-34. doi: 10.1055/s-0034-1381235. Epub 2014 Jun 9.

Abstract

The sticky platelet syndrome (SPS) is a thrombophilic qualitative platelet disorder with familial occurrence and autosomal dominant trait, characterized by increased in vitro platelet aggregation after low concentrations of adenosine diphosphate and/or epinephrine. Its clinical manifestation includes arterial thrombosis, pregnancy complications (fetal growth retardation and fetal loss), and less often venous thromboembolism. SPS was considered to be a rare thrombophilic disorder, but it can be found relatively often as a cause of unexplained thrombosis, particularly among patients with arterial thrombosis such as stroke. The syndrome was recognized as a distinct disorder in 1983 by Holiday and further characterized in the 1980s and 1990s, with Mammen and Bick providing the key findings. Although recognized for more than 30 years, significant issues, namely the syndrome's etiology, inheritance, and epidemiology, remain unclear. The aim of the first part of this review is to summarize the previous 35 years of the research into, and to provide a brief historical account of, SPS. The history section is focused particularly on the work of two most prominent investigators: Eberhard F. Mammen and Rodger L. Bick. The second part summarizes the present understanding of the syndrome and outlines unresolved issues and the trends in which the future research is likely to continue.

摘要

黏附性血小板综合征(SPS)是一种具有家族性发病和常染色体显性遗传特征的血栓形成性血小板质性疾病,其特征为在低浓度二磷酸腺苷和/或肾上腺素作用后体外血小板聚集增加。其临床表现包括动脉血栓形成、妊娠并发症(胎儿生长受限和胎儿丢失),静脉血栓栓塞较少见。SPS曾被认为是一种罕见的血栓形成性疾病,但作为不明原因血栓形成的病因,尤其是在诸如中风等动脉血栓形成患者中,它相对较为常见。1983年,霍利迪将该综合征确认为一种独特的疾病,并在20世纪80年代和90年代进一步对其进行了特征描述,马门和比克提供了关键研究结果。尽管该综合征已被认识30多年,但一些重要问题,即该综合征的病因、遗传方式和流行病学,仍不明确。本综述第一部分的目的是总结过去35年对SPS的研究,并简要介绍其历史。历史部分特别关注两位最杰出研究者埃伯哈德·F·马门和罗杰·L·比克的工作。第二部分总结了目前对该综合征的认识,概述了未解决的问题以及未来研究可能继续的方向。

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