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在22q11.2删除 (迪乔治) 综合征中的慢性炎症性关节炎:一个多中心研究
Emily Liebling1, Caroline Freychet2,3, Valentina Guarnieri4,5
1Children's Hospital of Philadelphia, Philadelphia, USA.
在22q11删除综合征 (22q11DS) 中,慢性关节炎呈现为一种具有严重,持续的过程的独特实体. 这种关节炎往往缺乏特定的抗体,与典型的青少年异常性关节炎不同.
科学领域:
- 遗传学 是一个遗传学.
- 类风湿病学 类风湿病学
- 儿科 儿科 儿科
背景情况:
- 22q11删除综合征 (22q11DS) 是一种遗传性疾病.
- 慢性关节炎是22q11DS患者偶尔出现的症状.
- 关节炎和22q11DS之间的关系受到争论.
研究的目的:
- 为了分析22q11DS和慢性炎症性关节炎的患者.
- 专注于临床表现,诊断和管理.
- 要确定关节炎是否在22q11DS.DS.中是一个独立的实体.
主要方法:
- 追溯,多中心分析.
- 电子邮件调查小儿中心患者鉴定 (1992-2024年).
- 对临床课程文档进行医疗记录审查.
主要成果:
- 确诊了30名患者;女性占主导地位.
- 在22q11DS诊断时的平均年龄:12个月;关节炎发作:3年.
- 多关节性参与 (50%),炎症标志物升高,负射频/CCP抗体.
- 治疗方法:葡萄糖皮质激素,甲铁酸盐,生物药物.
- 在53.3%的人群中,持久性活跃关节炎.
结论:
- 在22q11DS的关节炎是一个独特的临床实体.
- 具有侵略性表型的特征,严重/持续的过程.
- 缺乏CCP/RF抗体,很少与卵膜炎相关,不同于JIA.
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