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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.

DOI:10.7759/cureus.28221
PMID:36158342
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9491627/
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。

相似文献

1
A Case of Type 2 Protein S Deficiency Presenting as Cerebral Venous Thrombosis (CVT) in an 18-Year-Old Female.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。
Cureus. 2022 Aug 20;14(8):e28221. doi: 10.7759/cureus.28221. eCollection 2022 Aug.
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Cureus. 2021 Mar 13;13(3):e13866. doi: 10.7759/cureus.13866.
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Screening of protein S deficiency using a functional assay in patients with venous and arterial thrombosis.
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Hereditary thrombophilia in cerebral venous thrombosis: a study from India.遗传性血栓形成倾向与脑静脉血栓形成：一项来自印度的研究。
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本文引用的文献

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Blood. 1995 Aug 1;86(3):1062-71.