具有中度严重临床症状的纯合子蛋白C缺乏症。

Homozygous protein C deficiency with moderately severe clinical symptoms.

作者信息

Sharon C, Tirindelli M C, Mannucci P M, Tripodi A, Mariani G

出版信息

Thromb Res. 1986 Feb 15;41(4):483-8. doi: 10.1016/0049-3848(86)91693-2.

Abstract

We report a large family with two members homozygotes for protein C deficiency, with activity levels of 5% and 9%. Thirteen additional members were heterozygotes, with protein C activity ranging from 36-66% and equally low levels of protein C antigen. The homozygotes presented with recurrent deep-vein thromboses and pulmonary emboli, but have reached the ages of 26 and 37 years. Hence, protein C levels of 5% appear sufficient to avoid life-threatening clinical symptoms in the neonatal period.

摘要

我们报告了一个大家庭，其中有两名成员为蛋白C缺乏症纯合子，活性水平分别为5%和9%。另有13名成员为杂合子，蛋白C活性范围为36%至66%，蛋白C抗原水平同样较低。这两名纯合子患者出现复发性深静脉血栓形成和肺栓塞，但已分别活到26岁和37岁。因此，5%的蛋白C水平似乎足以避免新生儿期出现危及生命的临床症状。