论文部分内容阅读
本文作者报告2例新生儿暴发性紫癜,并追访患儿家族中47个无症状的成员,其中27个为遗传性蛋白C缺乏症患者,包括患儿父母4人,说明本病是常染色体隐性遗传疾病,是蛋白C缺乏症纯合子的表现型。调查结果不支持家族性蛋白C缺乏症杂合子患者易于发生静脉血栓、栓塞的结论。病例1,男,足月顺产。出生时末发现异常,给予常规维生素K注射。几小时后即出现皮下淤斑,并逐渐加重。紫斑边界清楚,周围皮肤红肿。血小板97×10~9/1,纤维蛋白原115mg/dl,凝血酶原时间15.4
The authors report 2 cases of neonatal purpura and follow-up of 47 asymptomatic members of the pediatric family, 27 of whom are patients with inherited protein C deficiency, including 4 with children, indicating that the disease is autosomal Recessive genetic disease is a phenotype of homozygote of protein C deficiency. The findings do not support the conclusion that patients with heterozygous familial protein C deficiency heterozygotes tend to develop venous thromboembolism. Case 1, male, full-term follow-up. Abnormal found at the end of birth, given conventional vitamin K injection. Subcutaneous ecchymosis occurred in a few hours and gradually increased. Purple border clear, around the skin irritation. Platelets 97 × 10 ~ 9/1, fibrinogen 115mg / dl, prothrombin time 15.4