发育性和性脑病变:需要弥合临床综合征和潜在遗传病因之间的差距
Priyanka Srivastava1, Chitra Bhardwaj2, Kausik Mandal3
1Genetic Metabolic Unit, Department of Paediatrics, Advanced Paediatrics Centre, Post Graduate Institute of Medical Education & Research (PGIMER), Chandigarh, 160012, India. srivastavapriy@gmail.com.
Indian journal of pediatrics
|November 7, 2024
概括
基因检测有助于诊断罕见的发育性和性脑病变 (DEE). 本综述概述了基因检测策略,并强调了对DEE的综合管理准则的需要.
科学领域:
- 神经遗传学 神经遗传学
- 发育神经科学的发展神经科学.
- 临床遗传学 临床遗传学
背景情况:
- 发育性和性脑病变 (DEE) 是一种罕见的神经发育障碍,具有早期发作的发作,发育延迟和EEG异常.
- 综合征的分类是基于不同的表型,EEG和神经成像,但不断变化的表型和新的基因发现使诊断复杂化.
- 目前的诊断方法在特征DEE和将遗传发现纳入管理计划方面面临挑战.
研究的目的:
- 审查DEE的致病变体,并提出一个循序渐进的基因测试方法.
- 为了解决对DEE最佳诊断途径的临床需求.
- 强调及时基因诊断对患者结果,治疗方法和家庭遗传咨询的影响.
主要方法:
- 关于DEE的遗传检测现有文献的审查.
- 对细胞遗传微阵列 (CMA) 和下一代测序 (NGS) 的进展进行分析.
- 讨论将基因检测结果纳入临床管理中的挑战.
主要成果:
- CMA和NGS显著提高了DEE的诊断产量.
- 在已建立的基因测试结果逐步评估和管理整合指南中存在着公认的差距.
- 了解遗传病因会影响预后,治疗选择 (例如,向疗法) 和生殖决策.
结论:
- 优化DEE的诊断途径需要对遗传变异有明确的理解,以及对遗传检测的结构化方法.
- 为整合基因检测结果制定共识指南对于基于证据的管理至关重要.
- 及时的基因诊断对于知情的患者护理,治疗干预和计划生育至关重要.
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