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探索希尔施普朗格病的潜在性别差异:对诊断模式和早期术后结果的全国队列研究

Linnea Söderström¹, Christina Graneli^2,3, Kristine Hagelsteen^2,3

¹Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden. linnea.soderstrom@ki.se.

Pediatric surgery international

|October 3, 2025

概括

性别似乎不会影响希尔施普朗格病 (HSCR) 患者的早期临床过程. 虽然女性的诊断和手术间隔较长,但整体结果相似,尽管女性更常见的是家族性疾病和RET突变.

科学领域:

儿科手术儿科手术
遗传学是一个遗传学.
临床结果研究研究

背景情况:

赫施普隆病 (HSCR) 是一种影响大肠的先天性疾病.
有限的数据存在HSCR患者早期临床过程中的基于性别的差异.

研究的目的:

调查HSCR在手术前,手术前和早期术后阶段可能存在的与性别相关的差异.
为了比较男性和女性HSCR患者之间的临床特征和结果.

主要方法:

在瑞典 (2013-2023) 接受拉透手术的197名HSCR患者的回顾性分析.
在诊断,手术治疗,意外手术,再入院和并发症方面,男性和女性的比较 (Clavien-Dindo等级≥3).

主要成果:

女性的家族HSCR (28.2%对8.2%) 和RET基因突变 (15.4%对2.5%) 的比率更高.
女性从诊断到拉通的时间更长 (中位数为48.5天与28天).
在诊断时的年龄,再活检率,结口率,拉透时的年龄,术后停留,严重并发症或再入院方面没有发现任何显著的性别差异.

结论:

在HSCR患者的早期临床过程中,并没有明显的性别依赖.
虽然女性存在更多的家族性疾病和RET突变,但她们的外科手术和早期术后结果与男性相似.
在女性中,从诊断到拉透的时间间隔较长并不转化为不同的手术时间或不良结果.

关键词:

赫什斯普朗格病是一种疾病.性爱性的性爱性的性爱外科手术的结果.

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