摘要
遗传性血小板功能障碍(IPFDs)是一类罕见疾病。临床表现具有异质性,以自发性皮肤黏膜出血、月经过多、外伤后难以止血多见,伴或不伴血小板减少为主要特征。由于临床诊断困难,发病率被低估,其治疗和管理也极具挑战性。文章对IPFDs的分类、临床表现、诊治及管理进行归纳,以提高对本病的了解,为临床一线医师提供参考。
Inherited platelet function disorders(IPFDs)is a rare disorder.The clinical manifestations were heterogeneous,mainly characterized by spontaneous cutaneous and mucosal hemorrhage,menorrhagia,difficulty in hemostasis after trauma,with or without thrombocytopenia.Its incidence has been underestimated due to difficulties in clinical diagnosis.Treatment and management of the disease are also challenging.This study summarized the classification,clinical manifestations,diagnosis,treatment and management of IPFDs,to improve the understanding of IPFDs and provide reference for diagnosis,treatment and management of IPFDs for front-line pediatricians.
作者
杨小燕
卞秋涵
庹媛媛
王顶环
黄璟
YANG Xiaoyan;BIAN Qiuhan;TUO Yuanyuan;WANG Dinghuan;HUANG Jing(Department of Pediatric Hemotology,Affiliated Hospital of Guizhou Medical University,Guiyang 550004,Guizhou,China;Guizhou Medical University,College of Pediatrics,Guiyang 550004,Guizhou,China)
出处
《临床儿科杂志》
CAS
CSCD
北大核心
2022年第2期87-94,共8页
Journal of Clinical Pediatrics
基金
国家自然科学基金地区科学基金项目(No.82060033)
贵州省科学技术基金[No.(2019)5406]
中国医学科学院成体干细胞转化研究重点实验室/细胞工程生物医药技术国家地方联合工程实验室/贵州省再生医学重点实验室开放项目(No.2020ZD03)。
关键词
遗传性血小板功能障碍
诊断
治疗
管理
inherited platelet function disorders
diagnosis
treatment
management
