Tuddenham E G, Takase T, Thomas A E, Awidi A S, Madanat F F, Abu Hajir M M, Kernoff P B, Hoffbrand A V
Haemostasis Research Group, Clinical Research Centre, Harrow, Middlesex, U.K.
Thromb Res. 1989 Mar 1;53(5):475-84. doi: 10.1016/0049-3848(89)90202-8.
We report an inbred family with two cases of homozygous protein C deficiency and review 11 other such cases. Both patients presented in the second half of their first year of life with recurrent rapidly disappearing ecchymotic skin lesions, disseminated intravascular coagulation, and venous thrombosis. Successful treatment has been achieved by frequent infusions of plasma or prothrombin complex then maintained with Warfarin. Homozygous recessive protein C deficiency usually presents in the neonatal period with purpura fulminans. Two cases have been described elsewhere which presented in the second decade of life with milder symptoms. The present cases appear to be intermediate in time of presentation and severity of symptoms. We also review the distinction that is now evident between recessive and dominant protein C deficiency.
我们报告了一个近亲结婚家庭中的两例纯合子蛋白C缺乏症病例，并回顾了其他11例此类病例。两名患者均在出生后第一年下半年出现反复出现且迅速消退的瘀斑性皮肤病变、弥散性血管内凝血和静脉血栓形成。通过频繁输注血浆或凝血酶原复合物，随后使用华法林维持治疗，取得了成功。纯合子隐性蛋白C缺乏症通常在新生儿期表现为暴发性紫癜。其他地方曾描述过两例在第二个十年出现症状较轻的病例。目前的病例在发病时间和症状严重程度上似乎处于中间状态。我们还回顾了现在隐性和显性蛋白C缺乏症之间明显的区别。
