维克萨斯综合征与埃索诺菲利亚和病理模仿细胞瘤:一个病例报告
Yasuhisa Murai1,2, Rina Watanabe1,2, Tatsuya Tsurumoto2,3
1Department of Rheumatology, Aomori Prefectural Central Hospital, Aomori, Japan.
Modern rheumatology case reports
|November 27, 2025
概括
空腔,E1酶,X链接,自身炎症,体质 (VEXAS) 综合征可以呈现出不寻常的乙氨基和囊细胞变化,模仿其他条件. 识别这些非典型特征对于及时诊断和治疗VEXAS综合征至关重要.
科学领域:
- 免疫学 免疫学 免疫学
- 遗传学 遗传学 是一个
- 病理学 病理学 病理学
背景情况:
- 空腔,E1酶,X链接,自身炎症,体质 (VEXAS) 综合征是最近发现的一种自身炎症性疾病.
- 它是由UBA1基因的体质突变引起的.
研究的目的:
- 描述一个VEXAS综合征的病例,具有非典型的临床和病理学特征.
- 要突出在维克萨斯综合征中由乙酸和细胞变化所带来的诊断挑战.
主要方法:
- 一个54岁的日本男子患有VEXAS综合征的病例报告.
- 进行了临床表现,皮肤和淋巴结活检,骨髓分析和对UBA1突变的遗传检测.
- 免疫组织化学被用来排除其他囊细胞性疾病.
主要成果:
- 这位患者出现了复发性发烧,乙,淋巴腺病,多关节炎,皮肤皮疹,硬化症和耳垂炎.
- 组织病理学显示CD68阳性囊细胞,模仿囊细胞形成.
- 基因检测证实了体质UBA1突变 (p.Met41Leu),确立了VEXAS综合征的诊断.
- 患者对普雷迪尼索隆治疗反应良好.
结论:
- 维克萨斯综合征可以表现为非典型的乙酸和细胞透,可能导致诊断混.
- 乙素和囊细胞变化可能是维克萨斯综合征的早期指标.
- 对这些非典型表现的认识对于迅速诊断和管理VEXAS综合征至关重要.
关键词:
在UBA1中,UBA1是UBA1的.维克萨斯综合征 (VEXAS综合征) 是一种埃索诺菲利亚 (eosinophilia) 是一种质细胞形成的原因是histiocytosis骨髓分裂性综合征是什么?更多相关视频
09:04Isolation And Dendritic Cell-Uptake of Small Extracellular Vesicles from Echinococcus granulosus
Published on: March 28, 2025
685
09:48An Orthotopic Endometrial Cancer Model with Retroperitoneal Lymphadenopathy Made From In Vivo Propagated and Cultured VX2 Cells
Published on: September 12, 2019
8.6K
相关概念视频
Cystic Fibrosis: Pathogenesis
680
Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
680
Barrett Esophagus-II: Clinical Manifestations and Management
743
Individuals with Barrett's esophagus are often asymptomatic, but they may experience symptoms commonly associated with GERD, such as heartburn and acid regurgitation. Additional symptoms can include difficulty swallowing, chest pain, unintentional weight loss, blood in the stool (which may appear black, tarry, or bloody), and episodes of vomiting.
To diagnose Barrett's esophagus, healthcare providers often recommend an endoscopy for those showing symptoms of acid reflux. The procedure...
To diagnose Barrett's esophagus, healthcare providers often recommend an endoscopy for those showing symptoms of acid reflux. The procedure...
743
Barrett Esophagus-I: Introduction
572
Barrett's esophagus is a medical condition where the esophageal mucosa is significantly damaged by stomach acid or other digestive fluids, often due to long-term exposure associated with gastroesophageal reflux disease (GERD). In GERD, a weakened or abnormally relaxed lower esophageal sphincter allows stomach acid to flow persistently into the esophagus.
This constant acid exposure transforms the esophagus's pink mucosal lining (stratified squamous epithelium) into a type of lining more...
This constant acid exposure transforms the esophagus's pink mucosal lining (stratified squamous epithelium) into a type of lining more...
572
