试图确定自身炎症性复发性发烧的分子原因
Oksana Boyarchuk1, Diana Savkiv1
1Department of Children's Diseases and Pediatric Surgery, I. Horbachevsky Ternopil National Medical University, Ukraine.
Reumatologia
|December 16, 2024
概括
对12名患有反复发烧的儿童的基因分析没有发现确定的自身炎症性疾病. 然而,确定了不确定的意义的变种,COVID-19成为潜在的触发因素.
科学领域:
- 免疫学 免疫学 免疫学
- 遗传学 是一个遗传学.
- 儿科 儿科 儿科
背景情况:
- 系统性自身炎症性疾病源于天生的免疫失调,经常呈现为反复发烧.
- 分子诊断对于识别儿童这些疾病的遗传基础至关重要.
研究的目的:
- 为了研究12名儿科患者中复发性发烧的分子诊断.
- 为了将遗传发现与临床表现相关联,并探索潜在的触发因素.
主要方法:
- 整个外体序列或向基因面板被用于分子诊断.
- 临床数据和发烧模式与遗传结果一起被分析.
主要成果:
- 在队列中没有发现确诊自发炎性疾病的致病变体.
- 确定了一例与周期性先天性中性缺陷相关的SRP54缺陷病例.
- 在6名患者中,在与自身炎症性疾病相关的基因内检测到具有不确定的意义的变异,具有可变的临床相关性.
- 在NLRC4 (2名患有PFAPA综合征的患者),PLSG2 (1名患有sJIA的患者) 和MEFV (1名患有不确定的复发性发烧的患者) 中发现了具有不确定的意义的特定变异.
- COVID-19被认为是超过一半 (54.5%) 的病例的触发因素.
结论:
- 这项研究强调了诊断儿童经常发烧的复杂性,因为往往缺乏明确的遗传诊断.
- 在已知的自身炎症基因中具有不确定的意义的变异需要进一步调查临床相关性.
- 环境因素,如COVID-19,可能在引发发热发作方面发挥重要作用.
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