Diagnosis of congenital dysfibrinogenemia
10.3760/cma.j.cn114452-20191120-00681
- VernacularTitle:遗传性异常纤维蛋白原血症的诊断
- Author:
Weijie ZHOU
1
;
Jie YAN
;
Donghong DENG
;
Faquan LIN
Author Information
1. 广西医科大学第一附属医院检验科，南宁 530021；广西百色市人民医院检验科，百色 533000
- From:
Chinese Journal of Laboratory Medicine
2020;43(4):406-410
- CountryChina
- Language:Chinese
-
Abstract:
Congenital dysfibrinogenemia (CD) is a hereditary disease that causes by the mutation of fibrinogen (Fg) gene, which result in abnormal of fibrinogen structure and function.Most of the mutations are dominant heredity which located at autosomal.The clinical manifestations of CD patients are highly diverse including asymptomatic, bleeding tendency, thrombophilia in some cases both bleeding tendency and thrombophilia coexist. As a result of highly diverse symptom the CD diagnosis mainly relies on laboratory tests. The result of coagulation test which has the best diagnostic value of CD was found to be fibrinogen antigen/activity ratio (PT-der/Clauss) greater than 1.43, thrombin time (TT) prolonged, prothrombin time (PT) and activated partial thromboplastin time (APTT)normal. According to patient′s clinical manifestations and coagulation function test results, combing with family history surveys diagnosis of CD can be made. Mass spectrometry can efficiently identify the type of fibrinogen defects in CD patients. And DNA sequencing can directly locate the site of mutation in fibrinogen gene.
