PDF(Pubmed)
Abstract：
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.
摘要：
遗传性血小板疾病（IPDs）可导致皮肤粘膜出血，原因是血小板的原发性止血功能受损，血小板减少症,或者两者兼而有之。分子技术的最新进展可以帮助识别与血小板生物学相关的许多基因，控制巨核细胞生成的整体步骤，导致IPD。在这篇文章中,审查了当前可用的实验室工具，用于诊断具有每个IPD的特征实验室特征的IPD，并提出了评价IPD患者的一般诊断方法。
