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澄清史密斯-马根尼斯综合征儿童的主要营养方面和休息能量消耗
F Proli1, E Sforza2, A Faragalli3,4
1Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168, Roma, Italy.
European journal of pediatrics
|August 20, 2024
概括
休息时的能量消耗不是史密斯-马格尼斯综合征 (SMS) 儿童肥胖的原因. 饮食因素是关键因素,特别是对于那些有RAI1变异的人来说,这表明需要量身定制的营养指南.
科学领域:
- 儿科内分泌学 儿科内分泌学
- 代谢障碍 代谢障碍 代谢障碍
- 遗传学 是一个遗传学.
背景情况:
- 超过90%的10岁以上史密斯-马格尼斯综合征 (SMS) 患者超重或肥胖.
- 儿科SMS中超重和肥胖的发展与异常的休息能量消耗无关.
- 对于SMS患者来说,有很大需要综合征特异的饮食指南.
研究的目的:
- 在小儿史密斯-马根尼斯综合征 (SMS) 患者中定义休息能量消耗 (REE).
- 用SMS描述儿童的营养模式.
- 在短信中调查REE,营养摄入量和肥胖之间的关系.
主要方法:
- 间接热量计用于测量REE.
- 通过将测量的REE (mREE) 与预测的REE (pREE) 进行比较来评估代谢状态.
- 进行了多学科评估,人体测量测量和由营养学家评估的3天食品日记.
主要成果:
- 儿科SMS患者的休息能量消耗没有减少;mREE与pREE没有区别.
- 与17p11.2删除 (38%) 患者相比,RAI1变异患者 (100%) 的肥胖率更高.
- 与健康体重儿童相比,肥胖和超重的SMS患者消耗的蛋白质较低,总能量较高.
结论:
- 在SMS中,肥胖不是由REE异常引起的,而是与饮食因素有关.
- 有RAI1变异的SMS患者需要在肥胖方面更加注意.
- 了解SMS中肥胖的分子基础可能会导致向治疗.
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