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

IF 0.5 A&A Practice Pub Date : 2022-11-01 DOI:10.1213/XAA.0000000000001637
John F Fahy, Eric W Emerling, Lynne M Sterni
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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.

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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。
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A&A Practice
A&A Practice ANESTHESIOLOGY-
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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.
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