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Wiskott-Aldrich综合征伴凝血因子Ⅻ缺乏1例并文献复习 被引量:1

A case of Wiskott-Aldrich Syndrome with Coagulation Factor Ⅻ Deficiency and the Literature Review
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摘要 Wiskott-Aldrich综合征(Wiskott-Aldrich syndrome,WAS),又称湿疹、血小板减少伴免疫缺陷综合征,是一种少见的X连锁隐性遗传性疾病,发病率为1/100万~10/100万[1],多发于男性。该病的临床特征主要有血小板减少伴血小板体积减小、湿疹、免疫缺陷、反复感染,且患者罹患恶性肿瘤和自身免疫性疾病的风险高于正常人[2]。大概只有三分之一的WAS患者具有其典型的三联征:反复感染、湿疹和血小板减少[3];由于该病的低发病率及临床表现差异很大,临床工作中常有漏诊和误诊的发生。回顾我院诊断的1例男性WAS患者临床资料并检索相关文献,总结探讨其临床特征,以期提高我们对该少见病的进一步认识及诊疗水平。
作者 周蜜 蔡惠丽 王海燕 邹雅倩 王雄 郭静明 ZHOU Mi;CAI Hui-li;WANG Hai-yan;ZOU Ya-qian;WANG Xiong;GUO Jing-ming(The First College of Clinical Medical Science,China Three Gorges University;Department of Hematology,Yichang Central People’s Hospital,Yichang 443000,China;Department of Laboratory Medicine,Tongji Hospital,Tongji Medical College,Huazhong University of Science and Technology,Wuhan,430030,China)
出处 《血栓与止血学》 2020年第5期735-738,741,共5页 Chinese Journal of Thrombosis and Hemostasis
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