Mehta S, Mehta S R, Malhotra H, Sharma U B, Varma A R
J Assoc Physicians India. 1989 Oct;37(10):668-9.
A case of congenital afibrinogenaemia in a young female child is described. She had haemorrhagic tendency since birth in the form of markedly prolonged umbilical bleeding and easy bruising afterwards. Two of her brothers had bleeding tendencies, one died shortly after birth due to uncontrollable umbilical bleeding and other died at the age of 12 years from internal haemorrhage. The family study indicates the mode of inheritance to be probably autosomal recessive. The principal laboratory findings are complete non-coagulability of blood, grossly abnormal coagulation tests, zero ESR value, failure to detect fibrinogen by heat coagulation or chemical precipitation tests and biuret reaction and correction of thrombin time after fibrinogen infusion.
本文描述了一名年轻女童先天性无纤维蛋白原血症的病例。自出生以来，她就有出血倾向，表现为脐带出血明显延长，之后容易出现瘀伤。她的两个兄弟也有出血倾向，一个出生后不久因脐带出血无法控制而死亡，另一个在12岁时死于内出血。家族研究表明，其遗传方式可能为常染色体隐性遗传。主要实验室检查结果为血液完全不凝固、凝血试验严重异常、血沉值为零、通过热凝固或化学沉淀试验及双缩脲反应无法检测到纤维蛋白原，以及输入纤维蛋白原后凝血酶时间得到纠正。
