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SARS-CoV-2 疫苗改善了蛋白 S 缺乏症患者的止血功能:一例报告。

SARS-CoV-2 Vaccine Improved Hemostasis of a Patient with Protein S Deficiency: A Case Report.

机构信息

Department of Interdisciplinary Oncology, Louisiana State University Health Sciences Center (LSUHSC), New Orleans, LA 70112, USA.

Stanley S. Scott Cancer Center, Louisiana State University Health Sciences Center, New Orleans, LA 70112, USA.

出版信息

Int J Mol Sci. 2024 Oct 5;25(19):10717. doi: 10.3390/ijms251910717.

Abstract

A 16-year-old patient, while an infant, incurred right-sided hemiparesis and had difficulty breast feeding. She was later diagnosed with a neonatal stroke and her genetic testing showed a missense mutation in her (Protein S) gene. Both her grandfather and father, but not her mother, had hereditary Protein S (PS) deficiency. The patient was not prescribed any mediation due to her young age but was frequently checked by her physician. The patient's plasma was first collected at the age of 13, and the isolated plasma from the patient and her father were analyzed by aPTT, thrombin generation, and enzyme-linked immunosorbent assays. These analyses showed low PS activity and clotting time associated with the missense mutation in the gene. During the COVID-19 pandemic, the patient received her first Pfizer vaccination dose in 2021, followed by a booster dose in 2022. The plasma samples were collected 8 weeks post-immunization, after which her clotting parameters had improved for up to 6 months following vaccination. The patient's plasma showed a significant reduction in thrombin generation and an improved aPTT clotting time. Mass spectrometry analysis revealed that her antithrombin-III level was significantly higher post-vaccination, and both thrombin and FXII levels were significantly lowered compared with her father. To our knowledge, this is the first report to document that COVID-19 vaccination can lower the risk of thrombosis in a patient with inherited thrombophilia. Although the effect was observed on a single mutation, it would be interesting to investigate the effect of COVID-19 vaccinations on other thrombophilia.

摘要

一位 16 岁的患者在婴儿时期出现右侧偏瘫,且难以母乳喂养。后来她被诊断为新生儿脑卒中,基因检测显示其 (蛋白 S)基因存在错义突变。她的祖父和父亲都有遗传性蛋白 S(PS)缺乏症,但她的母亲没有。由于患者年龄较小,并未开任何药物,但她的医生经常对她进行检查。患者的血浆首次在 13 岁时采集,对患者和她父亲的分离血浆进行 aPTT、凝血酶生成和酶联免疫吸附测定分析。这些分析显示,该基因的错义突变与 PS 活性和凝血时间降低有关。在 COVID-19 大流行期间,患者于 2021 年接种了第一剂辉瑞疫苗,随后于 2022 年接种了加强针。免疫接种后 8 周采集血浆样本,此后她的凝血参数在接种疫苗后长达 6 个月内得到改善。患者的血浆显示凝血酶生成显著减少,aPTT 凝血时间改善。质谱分析显示,接种疫苗后她的抗凝血酶-III 水平显著升高,与她父亲相比,凝血酶和 FXII 水平显著降低。据我们所知,这是第一份报告,记录了 COVID-19 疫苗接种可以降低遗传性血栓形成倾向患者的血栓形成风险。尽管这种影响仅在单一突变中观察到,但研究 COVID-19 疫苗接种对其他血栓形成倾向的影响将是有趣的。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f7cb/11477061/be6861ca0be6/ijms-25-10717-g001.jpg

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