遗传性血小板减少症的诊断

遗传性血小板减少症是一类以血小板减少为特征的罕见疾病。近几十年来,尽管该疾病的分子发病基础研究取得了显著进展,如发现大部分患者存在异常表达的基因,然而,其病理生理机制目前仍不十分清楚,诊断也较为困难。本文结合文献和我们的实践经验,对遗传性血小板减少症的分类、临床表现以及实验室血小板计数和形态学的特点作一综述,以助于提高临床医师和检验医师对该类疾病的诊断。

Clinical-biological diagnosis for hereditary thrombocytopenias

Hereditary thrombocytopenias（or inherited thrombocytopenias） are a heterogeneous group of rare diseases characterized by a reduced number of blood platelet. In the past few decades, tremendous advances have been achieved in the understanding the molecular basis of these disorders, including identification of many defective genes in most cases. However, the pathophysiology is often unknown and the diagnosis is rarely straightforward. In the review, we summarized our knowledge of inherited thrombocytopenias and those from the literature in the classification, clinical manifestations, and particularly in the laboratory features of platelet numeration and morphology. This would provide valuable insights for clinicians and biologists in the diagnostic approaches to such disorders.