儿科神经病诊所的阿塔克西亚 - 泰朗吉阿克萨西亚:一项回顾性多中心研究
Hüseyin Bahadır Şenol1, Bilge Akman2, Tutku Parlar2
1Department of Pediatric Neurology, Dokuz Eylül University Faculty of Medicine, Izmir, Türkiye.
概括
ATAXIA-Telangiectasia (AT) 诊断往往是延迟的,平均延迟时间为21个月. 早期识别AT,特别是在神经症状和复发性感染的儿童中,对于及时干预至关重要.
科学领域:
- 神经学 神经学
- 遗传学 是一个遗传学.
- 免疫学 免疫学 免疫学
背景情况:
- 过敏性脑膜炎 (AT) 是一种罕见的多系统遗传疾病,由受损的DNA修复引起.
- 由于向治疗的进步,早期诊断AT至关重要.
研究的目的:
- 评估AT患者的临床,放射和遗传变异性.
- 在AT中检查基因型-表型关联和诊断时间.
- 确定帮助早期AT识别的关键临床特征.
主要方法:
- 对遗传确认的AT患者进行了回顾性研究.
- 12年来,从土耳其的四个儿科神经病学中心收集的数据.
主要成果:
- 包括21名AT患者;诊断时的中位年龄为60个月 (21个月延迟).
- 眼睛的目光疏通症,缺氧,眼动力缺氧和脱发性关节炎是常见的. 脑小缩 (57.1%) 和低血糖球蛋白 (95.2%) 是常见的.
- 早期诊断组有更多的复发性呼吸道感染 (p=0.035).
结论:
- 确定了AT的临床变异性和关键特征.
- 在患有神经症状和复发性感染的患者中怀疑AT;评估免疫球蛋白水平.
- 改进的AT识别可以导致更早的诊断和更好的患者结果.
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