生酮饮食在葡萄糖转运蛋白1缺乏症全生命周期中的应用：从孕期到新生儿再到学龄前儿童
Ketogenic Diet in Glut 1 Deficiency Through the Life Cycle: Pregnancy to Neonate to Preschooler.
作者信息
Kramer Jennifer, Smith Lisa
机构信息
Riley Hospital for Children at Indiana University Health, Indianapolis, IN, USA.
出版信息
Child Neurol Open. 2021 Sep 13;8:2329048X211034655. doi: 10.1177/2329048X211034655. eCollection 2021 Jan-Dec.
Abstract
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.
摘要
一名接受生酮饮食疗法（KDT）治疗的19岁1型葡萄糖转运体缺乏综合征（Glut1DS）女性怀孕了。她的孕期包括对其饮食以及胎儿进行密切监测。分娩后不久，进行了腰椎穿刺，随后通过基因检测确诊新生儿患有Glut1DS。新生儿开始接受KDT治疗，自婴儿期起一直坚持该饮食。孩子现在5岁，无症状，发育良好。该病例呈现出两个管理挑战，一是孕期Glut1DS患者的管理，二是由于该病相对罕见以及这种特殊情况，在文献中可获取的指导极少的情况下对接受KDT治疗的新生儿进行管理。
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本文引用的文献
1
Erratum. Ketones in Pregnancy: Why Is It Considered Necessary to Avoid Them and What Is the Evidence Behind Their Perceived Risk? Diabetes Care 2021;44:280-289.勘误。孕期酮体：为何认为有必要避免酮体以及其推定风险背后的证据是什么？《糖尿病护理》2021年；44：280 - 289。
Diabetes Care. 2021 Jun;44(6):1456. doi: 10.2337/dc21-er06b. Epub 2021 Apr 29.
2
Glut1 Deficiency Syndrome (Glut1DS): State of the art in 2020 and recommendations of the international Glut1DS study group.葡萄糖转运蛋白1缺乏综合征（Glut1DS）：2020年的最新进展及国际Glut1DS研究组的建议
Epilepsia Open. 2020 Aug 13;5(3):354-365. doi: 10.1002/epi4.12414. eCollection 2020 Sep.
3
Mechanistic Insights into Protein Stability and Self-aggregation in GLUT1 Genetic Variants Causing GLUT1-Deficiency Syndrome.GLUT1 缺乏综合征相关 GLUT1 基因突变导致的蛋白稳定性和自身聚集的机制研究
J Membr Biol. 2020 Apr;253(2):87-99. doi: 10.1007/s00232-020-00108-3. Epub 2020 Feb 5.
4
Optimal clinical management of children receiving dietary therapies for epilepsy: Updated recommendations of the International Ketogenic Diet Study Group.接受癫痫饮食疗法儿童的最佳临床管理：国际生酮饮食研究小组的更新建议
Epilepsia Open. 2018 May 21;3(2):175-192. doi: 10.1002/epi4.12225. eCollection 2018 Jun.
5
Ketogenic diet therapy for epilepsy during pregnancy: A case series.妊娠期癫痫的生酮饮食疗法：病例系列
Seizure. 2017 Feb;45:198-201. doi: 10.1016/j.seizure.2016.12.019. Epub 2016 Dec 26.
6
Ketogenic diet guidelines for infants with refractory epilepsy.难治性癫痫婴儿的生酮饮食指南。
Eur J Paediatr Neurol. 2016 Nov;20(6):798-809. doi: 10.1016/j.ejpn.2016.07.009. Epub 2016 Jul 17.
7
Diagnosing Glucose Transporter 1 Deficiency at Initial Presentation Facilitates Early Treatment.初诊时诊断葡萄糖转运蛋白 1 缺乏症有助于早期治疗。
J Pediatr. 2016 Apr;171:220-6. doi: 10.1016/j.jpeds.2015.12.030. Epub 2016 Jan 22.
8
Use of dietary therapies amongst patients with GLUT1 deficiency syndrome.葡萄糖转运蛋白1缺乏综合征患者的饮食疗法应用
Seizure. 2016 Feb;35:83-7. doi: 10.1016/j.seizure.2016.01.011. Epub 2016 Jan 14.
9
Carnitine Deficiency and Pregnancy.
Case Rep Obstet Gynecol. 2015;2015:101468. doi: 10.1155/2015/101468. Epub 2015 May 28.
10
Efficacy of 4:1 (classic) versus 2.5:1 ketogenic ratio diets in refractory epilepsy in young children: a randomized open labeled study.经典 4:1 与 2.5:1 生酮饮食比例治疗小儿难治性癫痫的疗效：一项随机开放标签研究。
Epilepsy Res. 2011 Sep;96(1-2):96-100. doi: 10.1016/j.eplepsyres.2011.05.005. Epub 2011 May 28.
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