通过肠道管理成功治疗先天性腹:一个病例报告
Dana A Thorvilson1, Caleb C Skiba1, Julia D Muzzy2
1North Dakota State University College of Pharmacy Nursing and Allied Sciences, Fargo, North Dakota, United States.
Nutrition (Burbank, Los Angeles County, Calif.)
|July 3, 2023
概括
先天性腹 (CSD) 是一种罕见的遗传性疾病. 本案例研究表明,使用肠道养,避免长期静脉输入,成功管理患有CSD的新生儿.
科学领域:
- 儿科胃肠病学 儿科胃肠病学
- 医学遗传学 医学遗传学
背景情况:
- 先天性腹 (CSD) 是一种罕见的遗传性疾病,其特点是过度腹和随后的电解质失衡.
- 目前的儿科管理通常涉及亲肠道营养 (PN) 在生命的第一年期间提供液体,营养和电解质支持.
研究的目的:
- 在新生儿中报告一种先天性腹病例.
- 评估肠道养作为长期亲肠道营养的替代品在管理中肠道疾病时的疗效.
- 通过肠道手段突出成功管理电解质失衡.
主要方法:
- 诊断基因面板测序发现了异构性GUCY2C基因变体,证实了自体主导的CSD.
- 最初的管理涉及亲肠道营养 (PN) 以稳定液体,营养素和电解质状态.
- 过渡到全肠养,频繁调整以保持电解质平衡.
主要成果:
- 在过渡到肠道养后,婴儿的症状有所改善.
- 在整个住院期间,通过仔细调整治疗,保持适当的电解质水平.
- 患者按照肠道液维护计划出院,以继续控制症状.
结论:
- 这一案例表明,肠道养可以有效地管理先天性腹症患者的电解质水平.
- 通过肠道手段的成功管理可能可以避免对CSD患者的长期静脉输入的需要.
- 肠道液维护计划可以在生命的第一年提供对CSD的症状控制.
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