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一例疫苗诱导的免疫性血栓性血小板减少症(VITT)病例报告及基因分析

A case report of vaccine-induced immune thrombotic thrombocytopenia (VITT) with genetic analysis.

作者信息

Mendes-de-Almeida Daniela P, Kehdy Fernanda S G, Martins-Gonçalves Remy, Bokel Joanna, Grinsztejn Eduarda, Mouta Nunes de Oliveira Patrícia, Maia Maria de Lourdes de Sousa, Hoagland Brenda, Wagner Cardoso Sandra, Grinsztejn Beatriz, Siqueira Marilda M, Kurtz Pedro, Bozza Patricia T, Garcia Cristiana C

机构信息

Department of Hematology, Evandro Chagas National Institute of Infectious Diseases, Fundação Oswaldo Cruz (FIOCRUZ), Rio de Janeiro, Brazil.

Department of Medical Affairs, Clinical Studies, and Post-Registration Surveillance (DEAME), Institute of Technology in Immunobiologicals/Bio-Manguinhos, Fundação Oswaldo Cruz (FIOCRUZ), Rio de Janeiro, Brazil.

出版信息

Front Cardiovasc Med. 2023 May 19;10:1189320. doi: 10.3389/fcvm.2023.1189320. eCollection 2023.

DOI:10.3389/fcvm.2023.1189320
PMID:37351283
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10284151/
Abstract

The emergence of the rare syndrome called vaccine-induced immune thrombocytopenia and thrombosis (VITT) after adenoviral vector vaccines, including ChAdOx1 nCov-19, raises concern about one's predisposing risk factors. Here we report the case of a 56-year-old white man who developed VITT leading to death within 9 days of symptom onset. He presented with superior sagittal sinus thrombosis, right frontal intraparenchymal hematoma, frontoparietal subarachnoid and massive ventricular hemorrhage, and right lower extremity arterial and venous thrombosis. His laboratory results showed elevated D-dimer, C-reactive protein, tissue factor, P-selectin (CD62p), and positive anti-platelet factor 4. The patient's plasma promoted higher CD62p expression in healthy donors' platelets than the controls. Genetic investigation on coagulation, thrombophilia, inflammation, and type I interferon-related genes was performed. From rare variants in European or African genomic databases, 68 single-nucleotide polymorphisms (SNPs) in one allele and 11 in two alleles from common SNPs were found in the patient genome. This report highlights the possible relationship between VITT and genetic variants. Additional investigations regarding the genetic predisposition of VITT are needed.

摘要

包括ChAdOx1 nCov-19在内的腺病毒载体疫苗接种后出现的罕见综合征——疫苗诱导的免疫性血小板减少症和血栓形成(VITT),引发了人们对其易感风险因素的关注。在此,我们报告一例56岁白人男性病例,该患者在症状出现后9天内发生VITT并导致死亡。他表现为上矢状窦血栓形成、右侧额叶脑实质内血肿、额顶叶蛛网膜下腔和大量脑室内出血,以及右下肢动静脉血栓形成。他的实验室检查结果显示D-二聚体、C反应蛋白、组织因子、P-选择素(CD62p)升高,抗血小板因子4呈阳性。与对照组相比,患者血浆可促进健康供体血小板中更高水平的CD62p表达。对凝血、血栓形成倾向、炎症和I型干扰素相关基因进行了基因研究。在患者基因组中,从欧洲或非洲基因组数据库的罕见变异中,发现一个等位基因中有68个单核苷酸多态性(SNP),常见SNP中有11个在两个等位基因中。本报告强调了VITT与基因变异之间的可能关系。需要对VITT的遗传易感性进行更多研究。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a45a/10284151/e044d6ca1442/fcvm-10-1189320-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a45a/10284151/e044d6ca1442/fcvm-10-1189320-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a45a/10284151/e044d6ca1442/fcvm-10-1189320-g001.jpg

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