在VACTERL相关的患者中,膀功能障碍的实质性发生率:对监测的影响
Adriana Gomes1, Laura Forero Zapata1, Carolina I Galarreta2
1Division of Dysmorphology/Genetics, Department of Pediatrics and Rady Children's Hospital San Diego, University of California, San Diego, La Jolla, California, USA.
American journal of medical genetics. Part A
|October 12, 2023
概括
膀功能障碍是常见但被忽视的VACTERL关联组成部分,特别是在生殖器或直肠形患者中. 早期监测与VACTERL相关的膀问题对于及时干预至关重要.
科学领域:
- 儿科遗传学 儿科遗传学
- 发展生物学 发展生物学
- 泌尿器科 泌尿器科 泌尿器科 泌尿器科
背景情况:
- VACTERL关联是一种复杂的先天性异常,其特点是多种形的非随机共发生.
- 现有的诊断标准包括脊椎,门,心脏,气管-食道,脏和四肢缺陷.
- 其他相关异常包括单一的动脉,绑定的脊髓和生殖器形.
研究的目的:
- 确定和描述膀功能障碍作为VACTERL协会的潜在表型组成部分.
- 为了确定患有VACTERL缺陷的患者队列中的膀功能障碍的患病率.
- 在这个人群中识别与膀功能障碍相关的风险因素.
主要方法:
- 一个临床中心的VACTERL患者队列的回顾性审查.
- 对已记录的膀功能障碍和相关的VACTERL组件的医疗记录进行分析.
- 统计分析以确定流行率和风险因素.
主要成果:
- 很大一部分VACTERL患者表现出膀功能障碍.
- 膀功能障碍最常见的是患有生殖器异常,直肠发育不良,骨发育不良,脏异常和绑定脊髓的患者.
- 这表明膀功能障碍是VACTERL谱的组成部分.
结论:
- 膀功能障碍应该被认为是VACTERL协会的另一个表型组成部分.
- 患有两种或多种VACTERL形的患者,特别是那些具有已确定的风险因素的患者,需要对膀功能障碍进行监测.
- 监测应继续,直到达到尿止.
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