联合因子V和因子VIII缺乏伴蛋白C和蛋白C抑制剂正常。一项家系研究。

Combined factor V and factor VIII deficiency with normal protein C and protein C inhibitor. A family study.

作者信息

Rahim Adam K A, Al Rahman F, el Seed A, Karrar Z A, Gader A M

出版信息

Scand J Haematol. 1985 May;34(5):401-5. doi: 10.1111/j.1600-0609.1985.tb00768.x.

DOI:10.1111/j.1600-0609.1985.tb00768.x

Abstract

Combined deficiency of factor V and factor VIII, a rare bleeding disorder, is reported in a Syrian family. 2 siblings, 10 and 6 yr old are affected. They had mild bleeding manifestations. Their prothrombin time and partial thromboplastin time were prolonged, but thrombin time was normal. Both had low levels of factor V, (6% and 7%), factor VIII, (both 10%) factor VCAg (both 6%) and factor VIII CAg, (6% and 4%). All members of this family had normal levels of factor VIIIR:Ag, protein C, antigen and protein C inhibitor. The normal levels of protein C and protein C inhibitor in the 2 affected family members indicate that the combined deficiency of factors V and VIII has nothing to do with protein C. This contrasts with previous reports that deficiency of protein C inhibitor is the cause of combined factor V and factor VIII deficiency. The probable mode of inheritance of this defect is discussed.

摘要

在一个叙利亚家庭中报告了一种罕见的出血性疾病——因子V和因子VIII联合缺乏症。两名受影响的兄弟姐妹，年龄分别为10岁和6岁。他们有轻度出血表现。他们的凝血酶原时间和部分凝血活酶时间延长，但凝血酶时间正常。两人的因子V水平都很低（分别为6%和7%），因子VIII水平也很低（均为10%），因子VCAg（均为6%）和因子VIII CAg（分别为6%和4%）。这个家庭的所有成员因子VIIIR:Ag、蛋白C、抗原和蛋白C抑制剂水平均正常。两名受影响家庭成员中蛋白C和蛋白C抑制剂水平正常表明因子V和VIII联合缺乏与蛋白C无关。这与之前关于蛋白C抑制剂缺乏是因子V和因子VIII联合缺乏原因的报道形成对比。文中讨论了这种缺陷可能的遗传方式。