在鲁宾斯坦-泰比综合征中胃肠道表现
Mohamad Abi Nassif1, Ajay Kaul1,2, Lev Dorfman1
1Division of Pediatric Gastroenterology, Hepatology and Nutrition, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.
便秘和反流等胃肠道问题在鲁宾斯坦-泰比综合征中很常见,通常在诊断前出现. 早期治疗和多学科护理对受影响儿童至关重要.
科学领域:
- 儿科胃肠病学 儿科胃肠病学
- 临床遗传学 临床遗传学
- 发育儿科 发育儿科
背景情况:
- 鲁宾斯坦-泰比综合征 (RTS) 是一种罕见的遗传疾病,具有多种障碍.
- 在RTS中胃肠道 (GI) 问题没有得到充分的记录,尽管有高患病率的事证据.
- 关于RTS的胃肠道症状的现有数据来自病例报告和小患者系列.
研究的目的:
- 描述患有RTS的儿童中GI和营养相关疾病的频谱和患病率.
- 为了研究与RTS患者的遗传诊断相比,胃肠道症状的出现时间.
- 评估干预措施,包括胃口管安置,对RTS的营养状况和养的影响.
主要方法:
- 在第三级儿科中心看到的85名RTS儿童的回顾性分析 (2013-2023年).
- 对报告的胃肠道症状,临床评估,诊断程序和营养支持的患者记录的审查.
- 在干预前后分析生长参数 (体重,BMI z-分数).
主要成果:
- 超过一半的RTS患者 (54%) 经历了胃肠道症状,往往是在基因诊断之前.
- 便秘是最常见的症状,其次是反流,消化不良,吐和食困难.
- 几乎一半的患者需要胃口管的支持,导致体重和BMIz-score的改善,有些人过渡到口服养.
结论:
- 患有鲁宾斯坦-泰比综合征的儿童有很大的胃肠道和营养问题的负担.
- 早期识别和全面的,多学科的管理对于解决RTS的GI并发症至关重要.
- 像胃口管这样的干预措施可以改善RTS患者的营养结果,这些患者有严重的食问题.
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