破解先天性腹和肠道病 (CoDEs) 的代码:一个病例报告和审查
Anushka Bhowal1, Natalia Cardona1, Caroline Chua2
1Pediatrics, Nemours Children's Health, Orlando, USA.
Cureus
|December 13, 2024
概括
先天性腹和肠病 (CoDEs) 可以导致慢性婴儿腹. 这一案例突出了葡萄糖-银糖吸收不良 (GGM) 诊断和婴儿健康的管理.
科学领域:
- 儿科 儿科 儿科
- 胃肠病学 胃肠病学
- 遗传学 是一个遗传学.
背景情况:
- 先天性腹和肠道病变 (CoDEs) 是慢性婴儿腹的罕见原因,经常带来诊断挑战.
- 婴儿吸入性水性腹需要彻底的差异诊断,包括吸收不良的条件.
研究的目的:
- 介绍一个早产婴儿患有难以治愈的水性腹的案例研究.
- 为了说明在婴儿中识别葡萄糖-银糖吸收不良 (GGM) 的诊断过程.
- 强调早期诊断和针对GGM的量身定制管理的重要性.
主要方法:
- 一个早产的双胞胎婴儿的临床表现,患有严重的水性腹,发育不良和脱水.
- 诊断工作包括便分析和配方试验.
- 挑性碳水化合物挑战 (葡萄糖然后果糖) 来评估吸收不良.
- 基因检测以证实诊断的确诊.
主要成果:
- 婴儿出现了最初暗示死肠炎或食物蛋白质过敏的症状,后来转变为吸收不良的腹.
- 使用各种配方的试验是无效的,直到使用无碳水化合物,化蛋白质配方.
- 诊断挑战证实了葡萄糖-银糖吸收不良 (GGM),果糖补充后症状有所改善.
- 基因检测证实了GGM的诊断.
结论:
- 在患有持续性,非传染性水性腹的婴儿中,应考虑葡萄糖-银糖吸收不良 (GGM).
- 早期诊断和管理无碳水化合物配方和特定碳水化合物补充剂对于婴儿的最佳生长和发育至关重要.
- 这一案例强调了通过有针对性的饮食干预措施成功管理GGM.
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