Dorgalaleh Akbar, Tabibian Shadi, Shamsizadeh Morteza
Clin Lab. 2017 Jan 1;63(1):1-13. doi: 10.7754/Clin.Lab.2016.160607.
Inherited platelet function disorders (IPFDs) are a wide spectrum of qualitative platelet disorders with variable bleeding tendency, ranging from mild bleeding to severe life-threatening episodes. Diagnosis and classification of IPFDs is a challenge worldwide. The present study aims to present a proper classification, describe the molecular basis and clinical presentations as well as some diagnostic clues for these disorders.
All relevant publications were searched using appropriate keywords.
IPFDs can be divided into four major groups including defects of platelet surface glycoproteins, platelet granules and secretion disorders, platelet signaling defects, and transcription-related platelet disorders. Some of these disorders, such as Glanzman thrombasthenia, are more common, with severe bleeding, while most of these disorders are extremely rare with mild bleeding.
A proper classification, accompanied by familiarity with diagnostic clinical and laboratory features of IPFDs, can be helpful in in-time and exact diagnosis of these complicated bleeding disorders.
遗传性血小板功能障碍(IPFDs)是一类广泛的血小板质量异常疾病,具有不同的出血倾向,从轻度出血到严重的危及生命的发作。IPFDs的诊断和分类在全球范围内都是一项挑战。本研究旨在提出一种合适的分类方法,描述这些疾病的分子基础、临床表现以及一些诊断线索。
使用适当的关键词检索所有相关出版物。
IPFDs可分为四大类,包括血小板表面糖蛋白缺陷、血小板颗粒和分泌障碍、血小板信号缺陷以及转录相关的血小板疾病。其中一些疾病,如Glanzman血小板无力症,较为常见,出血严重,而大多数此类疾病极为罕见,出血轻微。
一种合适的分类方法,同时熟悉IPFDs的诊断临床和实验室特征,有助于及时、准确地诊断这些复杂的出血性疾病。