【摘要】：正遺傳性異常纖維蛋白原血癥(congenital dysfibrinogenemia,CD)是由纖維蛋白原(fibrinogen,Fg)編碼基因缺陷導(dǎo)致Fg分子結(jié)構(gòu)與功能異常的遺傳性疾病。該病可表現(xiàn)為無(wú)癥狀、出血、血栓或出血與血栓并存,其多樣化的臨床表現(xiàn)給其治療帶來(lái)困難。我國(guó)由于實(shí)驗(yàn)室檢測(cè)Fg方法單一,易導(dǎo)致CD誤診或漏診;近幾年來(lái),通過(guò)應(yīng)用兩種方法測(cè)定Fg活性及其抗原濃度,
[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.
【作者單位】： 廣西醫(yī)科大學(xué)第一附屬醫(yī)院檢驗(yàn)科;廣西醫(yī)科大學(xué)第一附屬醫(yī)院血液科;
【基金】：國(guó)家自然科學(xué)基金資助項(xiàng)目(編號(hào):81560342)
【分類號(hào)】：R596

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