遗传性异常纤维蛋白原血症及其治疗

发布时间：2018-08-12 16:37

【摘要】：正遗传性异常纤维蛋白原血症(congenital dysfibrinogenemia,CD)是由纤维蛋白原(fibrinogen,Fg)编码基因缺陷导致Fg分子结构与功能异常的遗传性疾病。该病可表现为无症状、出血、血栓或出血与血栓并存,其多样化的临床表现给其治疗带来困难。我国由于实验室检测Fg方法单一,易导致CD误诊或漏诊;近几年来,通过应用两种方法测定Fg活性及其抗原浓度,
[Abstract]:Congenital dysplasia fibrinogenemia (CD) is a genetic disease with abnormal molecular structure and function caused by the defect of fibrinogen (FG) coding gene. The disease can be asymptomatic, haemorrhage, thrombus or bleeding coexist with thrombus, its diverse clinical manifestations bring difficulties to its treatment. In China, due to the single method of laboratory detection of FG, CD is easily misdiagnosed or missed. In recent years, the activity of FG and the concentration of FG antigen were determined by two methods.
【作者单位】： 广西医科大学第一附属医院检验科;广西医科大学第一附属医院血液科;
【基金】：国家自然科学基金资助项目(编号:81560342)
【分类号】：R596

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