遗传性异常纤维蛋白原血症的诊断  

Diagnosis of congenital dysfibrinogenemia

作　　者：周伟杰 闫婕[1] 邓东红[3] 林发全[1] Zhou Weijie;Yan Jie;Deng Donghong;Lin Faquan(Department of Clinical Laboratory,the First Affiliated Hospital of Guangxi Medical University,Nanning 530021,China;Department of Clinical Laboratory,the People′s Hospital of Baise,Baise 533000,China;Department of Hematology,the First Affiliated Hospital of Guangxi Medical University,Nanning 530021,China)

机构地区：[1]广西医科大学第一附属医院检验科,南宁530021 [2]广西百色市人民医院检验科,百色533000 [3]广西医科大学第一附属医院血液科,南宁530021

出　　处：《中华检验医学杂志》2020年第4期406-410,共5页Chinese Journal of Laboratory Medicine

基　　金：国家自然科学基金(81560342)。

摘　　要：遗传性异常纤维蛋白原血症(CD)是纤维蛋白原(Fg)基因缺陷导致Fg分子结构异常与功能缺陷的一种遗传性疾病,绝大多数为常染色体显性遗传。CD患者临床表现呈多样性,如无症状、出血、血栓形成或既有出血表现又有血栓形成,因此,CD诊断主要依赖实验室检查。CD具有极大诊断价值的凝血功能检查结果为纤维蛋白原抗原/活性比值(PT演算法结果/Clauss法结果)大于1.43,凝血酶时间(TT)延长,凝血酶原时间(PT)和活化部分凝血活酶时间(APTT)通常无异常。根据患者临床表现、凝血功能检查结果,结合家系调查即可明确CD诊断。质谱分析能够快速鉴别CD患者纤维蛋白原缺陷类型,DNA测序能够直接确定其纤维蛋白原缺陷基因位点。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.

关 键 词：遗传性异常纤维蛋白原血症 纤维蛋白原 凝血酶时间 质谱分析法 序列分析 

分 类 号：R5[医药卫生—内科学]