手术作为PCDH19相关症患者选择的治疗选择
Roxanne Simmons1, Nilika Singhal1, Joseph Sullivan1
1Department of Neurology, Benioff Children's Hospital, University of California San Francisco, USA.
Epilepsy & behavior : E&B
|November 13, 2023
概括
PCDH19,往往耐药,可能可以通过手术治疗. 这项研究发现,叶切除术成功释放了三名患有PCDH19基因变异的儿童的发作.
科学领域:
- 的遗传学 的遗传学
- 神经外科 神经外科
- 儿科神经学 儿科神经学
背景情况:
- PCDH19基因变异是的常见原因,经常出现抗药性,发烧相关的发作.
- 从历史上看,手术干预并不是PCDH19相关的标准治疗方法.
- 确定这种特定子类型的有效治疗策略仍然是一个临床挑战.
研究的目的:
- 为了评估手术在患有PCDH19基因变异的患者的疗效.
- 根据特定的临床和诊断标准,确定是否可以根据特定的临床和诊断标准确定外科候选人.
- 挑战PCDH19相关的手术不合格的传统观点.
主要方法:
- 三名患有病原性PCDH19变异的儿科患者的回顾性审查.
- 纳入标准:儿童发作,单次发作的象征学,药物耐药性,以及一致的成像学,象征学和电图学发现.
- 所有患者都接受了叶切除术.
主要成果:
- 这三名患者在叶切除术后实现了完全无发作.
- 手术结果表明,一些PCDH19患者可以从手术干预中受益.
- 协同的临床,成像和电生理学数据是患者选择的关键.
结论:
- 手术,特别是叶切除术,对于某些患有PCDH19相关的患者来说,可能是可行的有效治疗方法.
- 患有PCDH19变体和单次发作的患者可能是外科评估的合适候选人.
- 这些发现扩大了抗药PCDH19的治疗选择.
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