放射性和遗传评估在低位婴儿的婴儿
Selen Gur1, Gurkan Gurbuz2, Hilmi Tozkir3
1Department of Pediatrics, Namik Kemal University, Tekirdag, Turkey.
Journal of the College of Physicians and Surgeons--Pakistan : JCPSP
|September 11, 2023
概括
基因检测和脑MRI对于诊断儿科低血压症至关重要. 整体外体序列 (WES) 对于未通过初步评估诊断的病例至关重要,有助于预后和管理.
科学领域:
- 儿科神经学 儿科神经学
- 临床遗传学 临床遗传学
背景情况:
- 低位症是一种常见的儿科疾病,需要准确的诊断.
- 识别潜在原因对于适当的管理和预后至关重要.
- 遗传和放射性评估在诊断低血压症方面发挥着重要作用.
研究的目的:
- 评估基因和放射学评估在低血压儿童的诊断产量和重要性.
- 为了确定儿科低血压症的最佳诊断途径.
主要方法:
- 一个比较的观察性研究进行了追溯.
- 分析了170名患有低血压的儿童的数据,包括病史,实验室结果,放射学检查和遗传测试.
- 从婴儿期开始对患者进行了跟踪,但对于那些失去跟踪的人除外.
主要成果:
- 在170名患者中,61.8%是男孩;呈现时的平均年龄为13.52个月.
- 中心低血压 (85.3%) 比外围 (12.4%) 更常见. 大脑是主要的非遗传原因 (39%).
- 大脑MRI在48.2%的患者中是正常的;周周结节性白血病是最常见的异常 (15.9%). 基因诊断发生在38.2%的患者中,超过一半的患者中,整体外体序列测序 (WES) 是主要的方法.
结论:
- 大脑MRI被推作为中部低血压的初始诊断工具.
- 在临床评估和脑MRI后,应考虑对患者进行整体外体序列 (WES) 测序,这些患者患有不明原因的低血压.
- 这些诊断方法对于长期预后和小儿低血压症的有效管理至关重要.
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