生酮饮食在 Glut 1 缺乏症的整个生命周期中的应用:从怀孕到新生儿再到学龄前儿童。

Child neurology open Pub Date : 2021-09-13 eCollection Date: 2021-01-01 DOI:10.1177/2329048X211034655
Jennifer Kramer, Lisa Smith
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引用次数: 0

摘要

一名患有葡萄糖转运体 1 型缺乏综合征(Glut1DS)并接受生酮饮食疗法(KDT)治疗的 19 岁女性怀孕了。她在怀孕期间对饮食和胎儿进行了密切监测。分娩后不久,她进行了腰椎穿刺,随后通过基因检测确诊新生儿患有 Glut1DS。新生儿接受了 KDT 治疗,并从婴儿期开始一直坚持饮食。现在孩子已经 5 岁了,没有任何症状,发育良好。本病例提出了两个管理难题,一个是妊娠期 Glut1DS 患者的管理,另一个是新生儿 KDT 的管理,由于该病症相对罕见且情况特殊,文献中提供的指导极少。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Ketogenic Diet in Glut 1 Deficiency Through the Life Cycle: Pregnancy to Neonate to Preschooler.

A 19-year-old woman with glucose transporter type 1 deficiency syndrome (Glut1DS) treated with ketogenic diet therapy (KDT) became pregnant. Her pregnancy included close monitoring of her diet as well as the fetus. Shortly after delivery, a lumbar puncture was performed followed by confirmatory genetic test diagnosing the neonate with Glut1DS. The neonate was placed on KDT and has been maintained on diet since infancy. The child is now 5 years of age, asymptomatic, and excelling developmentally. This case presents 2 management challenges, that of a patient with Glut1DS during pregnancy followed by managing a neonate on KDT with minimal guidance available in the literature due to the relative rarity of the condition and this unique situation.

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