重视罕见遗传性凝血因子缺陷症的诊断  

Attention should be given to the diagnosis of rare inherited coagulation disorders

作　　者：陆晔玲[1] 丁秋兰[1] 王学锋[1] Lu Yeling;Ding Qiulan;Wang Xuefeng(Clinical Laboratory Department,Ruijin Hospital,Shanghai Jiaotong University School of Medicine,Shanghai 200025,China)

机构地区：[1]上海交通大学医学院附属瑞金医院检验科,上海200025

出　　处：《中华检验医学杂志》2024年第5期486-492,共7页Chinese Journal of Laboratory Medicine

摘　　要：罕见遗传性凝血因子缺陷症(RCD)是一类除凝血因子Ⅷ、Ⅸ及VWF外的遗传性凝血因子缺陷病,常呈常染色体隐性遗传,发病率在1/2 000 000至1/500 000。RCD临床表现异质性较大,主要以出血为主,但也可发生血栓或者无临床表现。准确认识及诊断这类疾病对临床治疗具有重要意义。Rare inherited coagulation disorders(RCD)are defined as diseases caused by deficiency of coagulation factor/factors,other than factorⅧ,factorⅨor von Willebrand factor.RCD are mainly autosomal recessive inheritance disorders with prevalences from 1 in 500000 to 1 in 2000000.The clinical manifestations of RCD are heterogeneous,mainly characterized by bleeding,but thrombosis or no clinical manifestations can also occur.Accurate understanding and diagnosis of RCD is of great significance for clinical treatment.

关 键 词：血液凝集障碍 遗传性 凝血因子 诊断 

分 类 号：R596.1[医药卫生—内科学]