[激活的酸3-激酶三角综合征:报告了七例病例]
Qing-Hua Liu1, Li Peng1, Han Huang1
1Pediatric Medical Center, First Hospital Affiliated to Hunan Normal University/Hunan Provincial People's Hospital/Hunan Provincial Key Laboratory of Pediatric Respiratory Disease, Changsha 410005, China.
概括
在儿童中,活性酸3-酶三角综合征 (APDS) 经常出现复发性感染和扩大的淋巴结. 早期识别关键症状对于及时诊断和管理这种罕见的免疫疾病至关重要.
科学领域:
- 免疫学 免疫学 免疫学
- 遗传学 遗传学 是一个
- 儿科 儿科 儿科
背景情况:
- 活性酸3-酶三角综合征 (APDS) 是一种主要免疫缺陷.
- 了解APDS的临床谱和遗传基础对于诊断至关重要.
研究的目的:
- 总结7名被诊断患有APDS的儿童的临床数据.
- 为了提高儿童患者对APDS的理解.
主要方法:
- 对7名APDS儿童的临床数据进行了回顾性分析.
- 在湖南省人民医院从2019年1月到2023年8月收集的数据.
主要成果:
- 所有7名儿童都经历了复发性呼吸道感染,肝炎缩和淋巴腺病.
- 常见的发现包括败血症 (5/7),中耳炎 (3/7),脏 (3/7).
- 在6名患者中发现了p.E1021K突变,在1名患者中发现了拼接位突变.
结论:
- p.E1021K突变是儿科APDS中最常见的基因变异.
- 在患有复发性感染,肝壮病,淋巴腺病,中耳炎或病的儿童中,特别是在支气管镜检查中发现结节突起时,对APDS的怀疑是合理的.
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