遗传性血小板疾病的诊断检查
Diagnostic workup of inherited platelet disorders.
作者信息
Kim Bohyun
机构信息
Department of Laboratory Medicine, Soonchunhyang University Cheonan Hospital, Soonchunhyang University College of Medicine, Cheonan, Korea.
出版信息
Blood Res. 2022 Apr 30;57(S1):11-19. doi: 10.5045/br.2022.2021223.
Inherited platelet disorders (IPDs) can cause mucocutaneous bleeding due to impaired primary hemostatic function of platelets, thrombocytopenia, or both. Recent advances in molecular technology can help identify many genes related to platelet biology, control the overall steps of megakaryopoiesis, and cause IPD. In this article, currently available laboratory tools for diagnosing IPDs with the characteristic laboratory features of each IPD are reviewed, and a general diagnostic approach for the evaluation of IPD patients is presented.
遗传性血小板疾病(IPDs)可因血小板的 primary 止血功能受损、血小板减少或两者兼而有之而导致皮肤黏膜出血。分子技术的最新进展有助于识别许多与血小板生物学相关的基因,控制巨核细胞生成的整个步骤,并导致 IPD。本文回顾了目前可用于诊断具有每种 IPD 特征性实验室检查结果的 IPD 的实验室工具,并提出了评估 IPD 患者的一般诊断方法。
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