晚期诊断赫施普朗格病:临床表现和长期功能结果
Claire A Ostertag-Hill1, Prathima Nandivada1, Belinda H Dickie1
1Department of Surgery, Boston Children's Hospital, Boston, MA, USA.
Journal of pediatric surgery
|November 19, 2023
概括
晚期诊断儿童的赫施普朗格病 (HD),定义为一年后,呈现慢性便秘和其他问题. 结果与早期诊断的HD相似,大多数人实现了禁欲.
科学领域:
- 儿科手术 儿科手术
- 胃肠病学 胃肠病学
- 遗传学 是一个遗传学.
背景情况:
- 赫施普朗格病 (HD) 通常是新生儿诊断的.
- 晚些时候出现长期症状的患者的一个子集.
- 晚期HD诊断 (≥1年) 有限和相互矛盾的文献关于结果.
研究的目的:
- 为了调查晚期诊断的HD的临床表现.
- 分析用于晚期HD的手术方法.
- 为了评估晚期HD诊断患者的功能结果.
主要方法:
- 在1岁以后被诊断患有HD的患者的回顾性审查.
- 从1997年到2021年在一个机构收集数据.
- 对演示,操作细节,并发症和长期功能结果的分析.
主要成果:
- 28名患者的诊断年龄平均为3.4岁.
- 100%的人经历过慢性便秘;14%的人患有肠结肠炎.
- 83%的患者在随访时实现了便节,其中43%需要药.
结论:
- 晚期HD诊断需要高度的临床怀疑.
- 结果 (胃瘤率,并发症,重复手术) 与早期的HD类似.
- 晚期HD的长期功能结果与普通HD人群可比.
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