雷特综合征的营养和胃肠道表现:长期随访
Tal David Berger1, Chen Fogel Berger2, Sewar Gara2
1Division of Pediatric Gastroenterology and Nutrition, Edmond & Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, 52621, Israel. talberger10@gmail.com.
European journal of pediatrics
|July 3, 2024
概括
随着时间的推移,营养状况和胃肠道问题会在患有雷特综合征的个体中恶化,不论遗传突变如何. 常见的问题包括食困难,便秘和反流.
科学领域:
- 神经科学是一个神经科学.
- 遗传学 是一个遗传学.
- 儿科 儿科 儿科
背景情况:
- 雷特综合征是一种罕见的神经发育障碍,由甲基CpG结合蛋白2 (MECP2) 基因的突变引起.
- 了解长期健康轨迹对于患者管理至关重要.
研究的目的:
- 在一个大型的全国患者队列中,描述雷特综合征的长期营养和胃肠道 (GI) 过程.
- 为了确定常见的GI表现及其随时间的进展.
主要方法:
- 在1991-2021年间对141名雷特综合征患者进行了回顾性队列研究.
- 临床特征,人体测量 (体重,身高,BMI Z-分数) 和胃肠道症状的分析.
- 卡普兰·梅尔曲线和通用估计方程模型用于数据分析.
主要成果:
- 人类测量参数 (体重,身高,BMI Z-分数) 随着年龄的增长而显著恶化,从2.5岁时的-1.09,-1.03,-0.56到17.5岁时的-3.95,-3.01,-1.19 (P < 0.001).
- 常见的GI问题包括便秘 (47.5%在呈现时,增加到33.3%在随访期间) 和/食困难 (20%在呈现时,增加到17.0%在随访期间).
- 空气 (20%) 和胃食道逆流 (31.2%) 也很普遍. 在典型的雷特综合征形式中,胃肠道表现更为常见.
结论:
- 在雷特综合征患者中,人体测量参数随着年龄的增长而下降,独立于特定的遗传突变.
- /食困难,便秘和胃食道逆流是这种人群中常见和持续的胃肠道挑战.
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