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一名18岁女性以脑静脉血栓形成(CVT)为表现的2型蛋白S缺乏症病例。

A Case of Type 2 Protein S Deficiency Presenting as Cerebral Venous Thrombosis (CVT) in an 18-Year-Old Female.

作者信息

Agarwal S Ankush, Santhanam Jennie, K Arun, Degapudi Sruthi, K Subramaniyan

机构信息

General Medicine, Sri Ramaswamy Memorial (SRM) Medical College Hospital and Research Centre, Chengalpattu, IND.

出版信息

Cureus. 2022 Aug 20;14(8):e28221. doi: 10.7759/cureus.28221. eCollection 2022 Aug.

Abstract

Here, we report a case of cerebral venous thrombosis in an 18-year-old female. On evaluation, she was found to have type 2 protein S deficiency, which is the rarest form of protein S deficiency and is also known as a qualitative defect. Protein S is primarily synthesized by hepatocytes and undergoes vitamin K-dependent gamma-carboxylation. Mature protein S circulates in two states: free and bound to the complement component C4b-binding protein (C4b-BP). The free form of protein S acts as a cofactor for activated protein C. This case is unique as here, there is a qualitative effect that is responsible for the manifestations.

摘要

在此,我们报告一例18岁女性脑静脉血栓形成的病例。经评估,发现她患有2型蛋白S缺乏症,这是蛋白S缺乏症最罕见的形式,也被称为定性缺陷。蛋白S主要由肝细胞合成,并经历维生素K依赖的γ-羧化作用。成熟的蛋白S以两种状态循环:游离状态和与补体成分C4b结合蛋白(C4b-BP)结合的状态。蛋白S的游离形式作为活化蛋白C的辅因子。该病例很独特,因为在此存在一种导致这些表现的定性效应。

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