儿科红色肌痛的临床特征:一个单中心病例系列
Jenny Sun1, Don Daniel Ocay1,2, Meghan Halpin1
1Department of Anesthesiology, Critical Care, and Pain Medicine, Boston Children's Hospital, Boston, MA 02115, USA.
Children (Basel, Switzerland)
|August 26, 2023
概括
这项研究描述了42例儿科红色红斑症病例,发现女性占主导地位,以及像热等常见触发因素. 基因分析在一些患者中发现了Nav1.7通道病变,突出了儿科红红斑症的潜在遗传联系.
科学领域:
- 儿科神经学 儿科神经学
- 遗传学 遗传学 是一个
- 疼痛医学 医学 疼痛医学
背景情况:
- 红色红斑症的特点是严重的灼热疼痛,红斑和 extremities 的温度敏感性.
- 现有的儿科病例系列为红色红斑症的规模有限.
- 了解儿科红色红斑症对于诊断和管理至关重要.
研究的目的:
- 描述儿科红色红斑症的临床特征.
- 为了确定患有红色红斑症的儿童的相关疾病和治疗反应.
- 为迄今为止最大的儿科红色红斑症队列做出贡献.
主要方法:
- 对42名被诊断患有红色红斑症的儿科患者的医疗记录进行了回顾性分析.
- 数据提取包括临床表现,相关疾病和治疗结果.
- 进行了基因分析,包括对Nav1.7通道病变的调查.
主要成果:
- 该队列显示女性占主导地位 (2.5:1) 中位数发病年龄为12岁.
- 大多数患者 (90%) 经历了双边症状,热和运动加剧了疼痛.
- 三名患者确诊了Nav1.7通道病变;另外六名患者有正在调查的新型基因候选者. 没有任何单一的药物是始终有效的.
结论:
- 这项研究代表了迄今为止发表的最大的儿科红色红斑症队列.
- 这些发现与以前的文献一致,强调需要进一步研究.
- 目前正在进行的工作包括建立一个潜在的队列和多中心注册表,以全面理解.
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