克里斯波尼/感冒引起的出汗综合征的营养和营养关键特征
Roberta Onesimo1, Elisabetta Sforza2, Federica Palermo2
1Centre for Rare Diseases and Transition, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy.
Genes
|September 28, 2024
概括
患有克里斯波尼/感冒诱导出汗综合征1型 (CS/CISS1) 的患者从出生到成年时经历持续的食困难. 所有患者最初都需要肠道食,许多人面临着长期的,吞和唾液流出的挑战.
科学领域:
- 遗传学和罕见疾病
- 儿科胃肠病学 儿科胃肠病学
- 神经学 神经学
背景情况:
- 食困难是克里斯波尼/感冒诱导出汗症候群1型 (CS/CISS1) 的标志,影响患者的生活质量.
- 了解这些养问题的进展对于有效管理至关重要.
研究的目的:
- 调查从婴儿期到成年期的CS/CISS1患者的饮食困难的患病率和发育过程.
- 通过详细描述口腔运动和食挑战,扩大已知的CS/CISS1表型.
主要方法:
- 对14名CS/CISS1患者 (平均年龄18岁) 进行了一项观察性研究.
- 收集的数据包括从出生开始的口腔运动能力,食时间,吞反射,消化不良,困难和唾液管理.
主要成果:
- 所有患者在出生时都需要肠道养;43%的人推迟了固体食物的引入 (>18个月).
- 常见的问题包括长时间进食 (43%),疲劳 (43%),鼻食物泄漏 (21%),严重的鼻 (86%) 和食欲不佳 (57%).
- 成熟的旋转技巧从未实现.
结论:
- 在CS/CISS1中,食困难是普遍和持久的,从婴儿期到成年期发展.
- 这项研究增强了CS/CISS1表型描述,并为改善这种极为罕见的疾病的临床管理和并发症预防提供了信息.
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