补充C9缺乏症作为儿童侵入性Candida食道炎的新型风险因素:单一病例深入分析
Guimei Zheng1,2, Jian Zhang3,2, Kerong Peng4,2
1Department of Pulmonology, The Children's Hospital, Zhejiang University School of Medicine, Hangzhou, China.
BMC pediatrics
|March 4, 2026
概括
孤立的补充成分9 (C9) 缺乏可能使儿童易患复发性真菌食道炎和狭窄症. 早期补充查和联合抗真菌和内镜治疗是管理这种罕见疾病的关键.
科学领域:
- 免疫学 免疫学 免疫学
- 胃肠病学 胃肠病学
- 遗传学 遗传学是一种遗传学.
背景情况:
- 补体系统对于对真菌感染的天生的免疫力至关重要.
- 补充成分9 (C9) 在病原体消除中对膜攻击复合体 (MAC) 至关重要.
- 孤立的C9缺乏症以前没有与真菌食道炎有关.
研究的目的:
- 在患有孤立C9缺乏症的儿童中报告一种真菌食道炎病例.
- 突出C9缺乏在复发食道候群病中的潜在作用.
- 为了评估这种情况的治疗策略.
主要方法:
- 一个儿科病人的案例研究,患有持续的消化不良,恶心和吐.
- 消化管胃肠透镜和活检证实了Candida albicans消化管炎与狭窄.
- 全外因子测序发现了一种致病变体,导致孤立的C9缺陷.
主要成果:
- 患者经历了反复出现的食道狭窄和Candida albicans感染,尽管每月进行内镜扩张.
- 基因分析证实,孤立的C9缺乏症是潜在的原因.
- 结合的可纳治疗和反复的内镜扩张导致持续的症状消失.
结论:
- 孤立的C9缺乏可能会增加儿童对复发性菌性食道炎与狭窄的易感性.
- 建议在儿科病例中进行补充查,这些病例是无法解释的复发性真菌食道炎.
- 抗真菌治疗和内镜干预的结合方法可以实现长期缓解.
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