Suppr超能文献

一名携带PROC p.Lys193del突变的患者发生栓塞性中风。

An Embolic Stroke in a Patient With PROC p.Lys193del.

作者信息

Ueki Kana, Nakamura Kuniyuki, Wakisaka Yoshinobu, Wada Shinichi, Yoshikawa Yoji, Matsumoto Shinya, Hotta Taeko, Kang Dongchong, Kitazono Takanari, Ago Tetsuro

机构信息

Department of Medicine and Clinical Science, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.

Department of Medicine and Clinical Science, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.

出版信息

J Stroke Cerebrovasc Dis. 2020 May;29(5):104597. doi: 10.1016/j.jstrokecerebrovasdis.2019.104597. Epub 2020 Feb 11.

Abstract

We report a 58-year-old woman who suddenly developed brain infarction with weakness of the left lower extremity and left perioral dysesthesia during postoperative tamoxifen therapy for breast cancer and prednisolone therapy for rheumatoid arthritis. Diffusion-weighted images detected multiple areas of hyperintensity in the posterior circulation system of the brain. Despite extensive examinations, we could not identify any embolic sources except hypoplasia of the right vertebral artery. We found decreased activity of protein C against its antigen level (activity: 59% versus antigen: 122%) with enhanced activity of coagulation factor VIII (178%) and von Willebrand factor (285%). DNA sequencing identified trinucleotide deletion of the PROC gene leading to 1 amino acid deletion at Lys-193 (p.Lys193del). We speculate that the PROC gene polymorphism may have participated in tamoxifen- and prednisolone- associated hypercoagulable state, leading to development of an embolic stroke in this patient.

摘要

我们报告了一名58岁女性,她在接受乳腺癌他莫昔芬治疗和类风湿性关节炎泼尼松龙治疗术后,突然出现脑梗死,伴有左下肢无力和左侧口周感觉异常。弥散加权成像在脑的后循环系统中检测到多个高信号区域。尽管进行了广泛检查,但除右椎动脉发育不全外,我们未发现任何栓子来源。我们发现蛋白C活性相对于其抗原水平降低(活性:59%,而抗原:122%),同时凝血因子VIII(178%)和血管性血友病因子(285%)活性增强。DNA测序确定PROC基因有三核苷酸缺失,导致第193位赖氨酸处缺失1个氨基酸(p.Lys193del)。我们推测PROC基因多态性可能参与了他莫昔芬和泼尼松龙相关的高凝状态,导致该患者发生栓塞性中风。

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验