瑞典南部的儿童结核性硬化综合体:诊断和治疗的范式转变
Kevin Pearsson1,2, Josefin Björk Werner3, Johan Lundgren4
1Department of Clinical Sciences Lund, Clinical Sciences Helsingborg, Lund University, Lund, Sweden.
BMC pediatrics
|June 29, 2023
概括
结核性硬化综合体 (TSC) 诊断正在更早地转移,目前超过60%的诊断是在产前检测的. 这使得和其他TSC症状的早期干预成为可能.
科学领域:
- 儿科神经学 儿科神经学
- 医学遗传学 医学遗传学
背景情况:
- 结核性硬化综合体 (TSC) 是一种具有广泛临床谱的遗传性疾病.
- 早期诊断和干预对于管理TSC表现至关重要.
研究的目的:
- 在瑞典南部调查儿科TSC的临床谱.
- 为了识别随着时间的推移,TSC诊断和管理的变化.
主要方法:
- 对52名TSC患者进行了回顾性观察性研究,年龄在18岁以下.
- 从2000年到2020年,在区域医院和康复中心进行了后续调查.
主要成果:
- 转向较早的TSC诊断,近年来在产前检测到的>60%,通常是由于心脏狂宫瘤.
- 在82.7%的患者中诊断出;19%的患者接受了Everolimus治疗. 囊 (53%),血管肌脂瘤 (47%),胞性瘤 (28%) 也很常见.
- 缺乏标准化的随访和过渡到成人护理.
结论:
- 早期产前诊断TSC越来越常见.
- 早期诊断有助于预防性治疗和及时干预,使用everolimus缓解症状.
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