扩展VACTERL关联的核心特征,包括生殖器异常
Laura T Forero1, Riley Henderson2, Carolina Galarreta3
1Department of Pediatrics, Division of Genetics and Dysmorphology, UC San Diego/Rady Children's Hospital, San Diego, California, USA.
生殖器异常很常见,在VACTERL协会中具有功能意义. 早期评估至关重要,特别是对于患有直肠或异常的患者,以预防并发症.
科学领域:
- 儿科泌尿外科 儿科泌尿外科
- 医学遗传学 医学遗传学
- 发展生物学 发展生物学
背景情况:
- 生殖器异常是VACTERL关联的已知的并发症,但不是核心诊断特征.
- 未被识别的生殖器异常会导致VACTERL患者出现严重的急性和慢性健康问题.
研究的目的:
- 为了确定与VACTERL相关的患者的生殖器异常的患病率和严重程度.
- 为了确定与更高的生殖器异常发病率相关的核心VACTERL特征.
主要方法:
- 在2010年1月至2021年10月期间,对211名被诊断患有两个或两个以上核心VACTERL特征的患者进行了回顾性图表审查.
- 分析生殖器异常的频率,严重程度,以及与其他VACTERL特征的关联.
主要成果:
- 在34%的VACTERL患者中存在生殖器异常.
- 这些异常中的大多数 (83%在男性中,90%在女性中) 是具有功能意义的.
- 生殖器异常更频繁,同时发生直肠或异常 (两性) 和脊椎异常 (女性).
结论:
- 生殖器异常是VACTERL协会的一个重大问题,并要求对所有受影响的个体进行彻底评估.
- 患有VACTERL和直肠或脏异常的患者需要特别注意生殖器异常.
- 女性患者的查策略可能需要在体检之外进行增强.
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