遗传性血小板功能障碍的诊断和治疗现状  

Diagnosis and treatment of inherited platelet function disorders

作　　者：庹媛媛 李燕 金皎 Tuo Yuanyuan;Li Yan;Jin Jiao(Department of Pediatric Hematology,Affiliated Hospital of Guizhou Medical University,Guiyang 550001,China)

机构地区：[1]贵州医科大学附属医院儿科血液专科,贵阳550001

出　　处：《中华实用儿科临床杂志》2021年第8期637-640,共4页Chinese Journal of Applied Clinical Pediatrics

基　　金：贵州省科技成果重点推广计划(2020-4Y011);贵州省科学技术基金((2019)5406)。

摘　　要：遗传性血小板功能障碍(IPFD)是一种罕见的遗传性疾病,临床上以不同程度的出血倾向伴或不伴血小板减少为主要表现。以往由于实验室缺乏标准化评估体系,IPFD的诊断及分类困难,导致该类疾病的发病率可能被低估。目前,结合临床表现和实验室检测及二代测序技术,有助于及时、准确地诊断这类复杂的出血性疾病,并给予及时的病情评估及治疗指导。但目前IPFD仍无有效的靶向治疗措施。现主要介绍IPFD的诊断及治疗现状。Inherited platelet function disorders(IPFD)is a rare hereditary disease characterized by various degrees of bleeding tendency with or without thrombocytopenia.Due to the lack of standardized evaluation system in laboratory test,the diagnosis and classification of IPFD are difficult.Thus,the incidence of IPFD may be underestimated.At present,combined with symptoms and laboratory tests,the second generation sequencing technology is conductive to the fast and accurate diagnosis of complex hemorrhagic diseases of this type and can prompt assessment and treatment.However,there still exists no effective targeted treatment for IPFD.This paper was aimed at introducing the diagnosis and treatment of IPFD.

关 键 词：遗传性血小板功能障碍 遗传性血小板减少 血小板无力症 巨大血小板综合征 二代测序 

分 类 号：R725.5[医药卫生—儿科]