Perioperative Management and Considerations for Patients With Voltage-Gated Sodium Channel Mutations: A Pediatric Case Report.

IF 0.5
John F Fahy, Eric W Emerling, Lynne M Sterni
{"title":"Perioperative Management and Considerations for Patients With Voltage-Gated Sodium Channel Mutations: A Pediatric Case Report.","authors":"John F Fahy,&nbsp;Eric W Emerling,&nbsp;Lynne M Sterni","doi":"10.1213/XAA.0000000000001637","DOIUrl":null,"url":null,"abstract":"<p><p>A 13-year-old girl with a voltage-gated sodium channel mutation (SCN8A)-associated intractable epilepsy presented for bilateral mastectomy for painful juvenile fibroadenomatosis. Sodium channel mutations are more frequently diagnosed with continued advances in genetic testing. Understanding the effects of sodium channel mutations is important to provide safe anesthetic care to these patients. In this article, we discuss what is known regarding the physiology of SCN8A channels and the anesthetic considerations when caring for patients with an SCN8A mutation.</p>","PeriodicalId":7307,"journal":{"name":"A&A Practice","volume":null,"pages":null},"PeriodicalIF":0.5000,"publicationDate":"2022-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"A&A Practice","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1213/XAA.0000000000001637","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0

Abstract

A 13-year-old girl with a voltage-gated sodium channel mutation (SCN8A)-associated intractable epilepsy presented for bilateral mastectomy for painful juvenile fibroadenomatosis. Sodium channel mutations are more frequently diagnosed with continued advances in genetic testing. Understanding the effects of sodium channel mutations is important to provide safe anesthetic care to these patients. In this article, we discuss what is known regarding the physiology of SCN8A channels and the anesthetic considerations when caring for patients with an SCN8A mutation.

电压门控钠通道突变患者的围手术期处理和注意事项:一个儿科病例报告。
一名13岁女孩患有电压门控钠通道突变(SCN8A)相关的顽固性癫痫,因疼痛的幼年纤维腺瘤病而接受双侧乳房切除术。随着基因检测的不断进步,钠通道突变更常被诊断出来。了解钠通道突变的影响对于为这些患者提供安全的麻醉护理非常重要。在这篇文章中,我们讨论了关于SCN8A通道的生理学和护理SCN8A突变患者时的麻醉考虑。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
求助全文
约1分钟内获得全文 求助全文
来源期刊
A&A Practice
A&A Practice ANESTHESIOLOGY-
自引率
0.00%
发文量
0
期刊介绍: A & A Case Reports, our new online journal publishing Case Reports, related Editorial Commentary, and Correspondence. Anesthesia & Analgesia 1 and Anesthesiology 2 recently announced that they were suspending publication of Case Reports. One reason is that Case Reports typically reduce the Impact Factor of a journal because they are rarely cited. Regardless of the merits of Impact Factor as a metric of journal worth, journals and their editors necessarily consider Impact Factor in strategic planning. At the same time, Case Reports are appreciated by readers for describing “real life” management of difficult or unusual cases not often encountered by practitioners. In a recent issue of Anesthesia & Analgesia, Steven Shafer1 identified many Case Reports whose publication launched productive careers dedicated to solving the puzzle posed by an unusual observation in a single patient.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信