中华检验医学杂志2024,Vol.47Issue(5) :486-492.DOI:10.3760/cma.j.cn114452-20231116-00288

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

陆晔玲 丁秋兰 王学锋
中华检验医学杂志2024,Vol.47Issue(5) :486-492.DOI:10.3760/cma.j.cn114452-20231116-00288

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

陆晔玲 1丁秋兰 1王学锋1
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作者信息

  • 1. 上海交通大学医学院附属瑞金医院,检验科,上海 200025
  • 折叠

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.

Abstract

Rare inherited coagulation disorders(RCD)are defined as diseases caused by deficiency of coagulation factor/factors,other than factor Ⅷ,factor Ⅸ or von Willebrand factor.RCD are mainly autosomal recessive inheritance disorders with prevalences from 1 in 50 0000 to 1 in 200 0000.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

Key words

Blood coagulation disorders,inherited/Coagulation factor/Diagnose

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出版年

2024
中华检验医学杂志
中华医学会

中华检验医学杂志

CSTPCDCSCD北大核心
影响因子:1.402
ISSN:1009-9158
参考文献量32
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