Current Knowledge on Inherited Platelet Function Disorders
Current Knowledge on Inherited Platelet Function Disorders
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DOI：
10.15264/cpho.2020.27.1.1
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发表时间：
2020-01-01
期刊：
影响因子：
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通讯作者：
Shim, Ye Jee
中科院分区：
文献类型：
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作者：
Jung, Nani;Shim, Ye Jee
遗传性血小板功能障碍(IPFD)是罕见的，在临床上有显著出血素质的个体中被低估。IPFDs根据参与血小板初次止血过程的致病分子缺陷进行分类，这些缺陷包括：1)粘连(例如Bernard-Soulier综合征和假性von Willebrand病)，2)激活(例如腺苷二磷酸酶受体缺陷和血栓素A2受体缺陷)，3)信号转导和颗粒分泌(例如灰色血小板综合征、Paris-Trousseau/Jacobsen综合征、Chediak-Higashi综合征和Hermansky-Pudlak综合征)，4)聚集(例如Glanzmann血栓形成症)，以及5)促凝血活性(例如Scott综合征)。IPFDs患者通常在儿童早期出现意外的皮肤粘膜出血。这些疾病的诊断需要多项实验室检查，包括全血细胞计数、外周血涂片、血小板功能分析、光传输聚集法、流式细胞术、电子显微镜和遗传分析。然而，当作为单一治疗或辅助治疗时，抗纤溶药物、去氨加压素和重组激活因子VII也是有效的。重要的是，预防出血事件是IPFDs管理中最基本的策略。本综述旨在评估正常的血小板生理学，并总结目前有关IPFDs的分子缺陷、诊断评估和治疗策略方面的知识。如果出血倾向的原因难以确定，应考虑IPFDs。
Inherited platelet function disorders (IPFDs) are rare and underdiagnosed in individuals with clinically significant bleeding diathesis. IPFDs are classified according to the causative molecular defects involved in the process of primary hemostasis of platelets, which include the following: 1) adhesion (e.g., Bernard–Soulier syndrome and pseudo-von Willebrand disease), 2) activation (e.g., adenosine diphosphatase receptor defect and thromboxane A2 receptor defect), 3) signal transduction and granule secretion (e.g., gray platelet syndrome, Paris–Trousseau/Jacobsen syndrome, Chediak– Higashi syndrome, and Hermansky–Pudlak syndrome), 4) aggregation (e.g., Glanzmann thrombasthenia), and 5) procoagulant activity (e.g., Scott syndrome). Patients with IPFDs typically present with unexpected mucocutaneous bleeding during early childhood. The diagnosis of these conditions requires several laboratory tests including complete blood cell count, peripheral blood smear, platelet function analysis, light-transmission aggregometry, flow cytometry, electron microscopy, and genetic analysis.Platelet transfusion has been the mainstay of treatment. However, antifibrinolytics, desmopressin, and recombinant activated factor VII are also effective when used as a monotherapy or adjunctive therapy. Importantly, the prevention of bleeding event is the most basic strategy in the management of IPFDs. This review aimed to assess the normal platelet physiology and summarize the current knowledge about the molecular defects, diagnostic evaluation, and treatment strategies of the respective IPFDs. If the cause of the bleeding tendency is difficult to identify, IPFDs should be considered.