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Updated: Jun 11, 2025

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先天性隔膜和唇裂:寻找一个共同的遗传病因
Petra Nord1,2, Ashley H Ebanks3,4, Petra Peterson5
1Department of Pediatric Surgery, Karolinska University Hospital and Karolinska Institutet, Stockholm, Sweden. petra.nord@stud.ki.se.
Pediatric surgery international
|October 1, 2024
概括
带口唇/口腔裂纹的先天性隔膜 (CDH+CL/P) 是罕见的,并与显著的遗传异常有关. 与单独的CDH相比,CDH+CL/P患者的生存率较差,住院时间较长.
科学领域:
- 医学遗传学 医学遗传学
- 儿科手术 儿科手术
- 出生缺陷的研究研究研究.
背景情况:
- kongenital diaphragmatic hernia (CDH) 和裂唇/口腔 (CL/P) 是一种常见的出生缺陷.
- 对于患有CDH和CL/P (CDH+CL/P) 患者的遗传因素和结果尚不清楚.
研究的目的:
- 调查与CDH+CL/P相关的遗传异常.
- 为了确定CDH患者中CL/P的患病率.
- 为了比较CDH+CL/P与单独的CDH (CDH-) 的结果.
主要方法:
- 利用了来自先天性隔膜研究小组 (CDHSG) 登记册的数据.
- 在CDH患者中确定了CL/P的流行率.
- 在CDH+CL/P.中探索遗传异常和额外的形.
- 使用统计测试 (费舍尔精确测试,t测试,曼·惠特尼U测试) 进行患者特征和结果的比较.
主要成果:
- 在CDH+CL/P中确定了遗传异常,包括三体系13,8p23.1删除和沃尔夫-希尔斯霍恩综合征.
- 在CDH患者中,CL/P的患病率为0.7%.
- CDH+CL/P患者的生存率较低,早期死亡风险更高,体外生命支持 (ECLS) 使用减少,非修复病例更多,幸存者住院时间更长.
结论:
- 特定的遗传异常与CDH和口腔口腔裂的联合发生有关.
- 在CDH患者中,CL/P不常见,但显著恶化了结果.
- 在CDH+CL/P中较差的结果受到护理决策的影响.
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