Suppr超能文献

电子传递黄素蛋白脱氢酶缺陷(ETFDH)合并急性阑尾炎患儿的麻醉管理:病例报告及文献复习。

Anesthetic management of a pediatric patient with Electron Transfer Flavoprotein Dehydrogenase deficiency (ETFDH) and acute appendicitis: case report and review of the literature.

机构信息

Department of Anesthesiology, University Hospital of Crete, Herakllion, Greece.

Department of Pediatric Surgery, University Hospital of Crete, 71110, Herakllion, Greece.

出版信息

BMC Anesthesiol. 2017 Aug 29;17(1):116. doi: 10.1186/s12871-017-0400-9.

Abstract

BACKGROUND

Mitochondria are the energy producing organelles practically in every human cell except erythrocytes. Indeed mitochondria are widespread in high energy requiring organs like brain, heart and muscles. Currently there are no clinical trials supporting with clear evidence which is the most suitable surgical or anesthetic management of a patient with known mitochondrial disease presenting with surgical disorders. This condition poses possible hazardous problems to the medical attention of those patients.

CASE PRESENTATION

A case of an 8 year old child with known Electron Transfer Flavoprotein Dehydrogenase deficiency (ETFDH deficiency) requiring surgery for acute appendicitis is presented. Our approach for anesthesia revealed a combination of fentanyl, low dose propofol and nitrous oxide.

CONCLUSION

The choice of the safest pharmacological anesthetic agents for patients with ETFDH deficiency is challenging given that most of the general anesthetic medications have multiple effects on mitochondria, fatty acids metabolism and striated muscles. Anesthetists are expected to individualize anesthetic care for the patient based on current publications for similar cases, medical history and knowledge of pharmacology and physiology.

摘要

背景

线粒体是除红细胞以外几乎所有人类细胞的能量产生细胞器。实际上,线粒体广泛存在于需要高能量的器官中,如大脑、心脏和肌肉。目前,没有临床试验提供明确的证据支持已知患有线粒体疾病并出现手术障碍的患者最适合的手术或麻醉管理。这种情况可能会给这些患者的医疗带来潜在的危险问题。

病例介绍

介绍了一例 8 岁儿童,患有已知的电子传递黄素蛋白脱氢酶缺乏症(ETFDH 缺乏症),需要手术治疗急性阑尾炎。我们的麻醉方法包括芬太尼、小剂量异丙酚和一氧化二氮。

结论

鉴于大多数全身麻醉药物对线粒体、脂肪酸代谢和横纹肌有多种影响,因此为 ETFDH 缺乏症患者选择最安全的药理麻醉剂具有挑战性。麻醉师应根据当前类似病例的出版物、病史以及药理学和生理学知识,为患者制定个体化的麻醉护理方案。

相似文献

2
Novel mutations in ETFDH gene in Chinese patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.
Clin Chim Acta. 2009 Jun 27;404(2):95-9. doi: 10.1016/j.cca.2009.02.015. Epub 2009 Mar 3.
3
Fulminant lipid storage myopathy due to multiple acyl-coenzyme a dehydrogenase deficiency.
Muscle Nerve. 2015 Aug;52(2):289-93. doi: 10.1002/mus.24552. Epub 2015 Feb 11.
8
Increased muscle coenzyme Q10 in riboflavin responsive MADD with ETFDH gene mutations due to secondary mitochondrial proliferation.
Mol Genet Metab. 2013 Jun;109(2):154-60. doi: 10.1016/j.ymgme.2013.04.007. Epub 2013 Apr 11.
9
Multiple acyl-CoA-dehydrogenase deficiency (MADD)--a novel mutation of electron-transferring-flavoprotein dehydrogenase ETFDH.
J Neurol Sci. 2011 Aug 15;307(1-2):166-7. doi: 10.1016/j.jns.2011.05.001. Epub 2011 May 25.

引用本文的文献

1
Anaesthetic Management of a Patient with Multiple Acetyl CoA Dehydrogenase Deficiency: A Case Report.
Turk J Anaesthesiol Reanim. 2022 Jun;50(3):235-237. doi: 10.5152/TJAR.2021.816.

本文引用的文献

1
Rhabdomyolysis: a genetic perspective.
Orphanet J Rare Dis. 2015 May 2;10:51. doi: 10.1186/s13023-015-0264-3.
2
Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society.
Genet Med. 2015 Sep;17(9):689-701. doi: 10.1038/gim.2014.177. Epub 2014 Dec 11.
4
Anesthetic considerations in patients with mitochondrial defects.
Paediatr Anaesth. 2013 Sep;23(9):785-93. doi: 10.1111/pan.12158. Epub 2013 Mar 28.
5
Malignant hyperthermia.
Korean J Anesthesiol. 2012 Nov;63(5):391-401. doi: 10.4097/kjae.2012.63.5.391. Epub 2012 Nov 16.
6
Anesthesia for children with mitochondrial disorders: a national survey and review.
J Anesth. 2013 Apr;27(2):186-91. doi: 10.1007/s00540-012-1488-1. Epub 2012 Sep 25.
7
Anesthetic considerations in Leigh disease: Case report and literature review.
Saudi J Anaesth. 2012 Apr;6(2):181-5. doi: 10.4103/1658-354X.97037.
8
Drugs and mitochondrial diseases: 40 queries and answers.
Expert Opin Pharmacother. 2012 Mar;13(4):527-43. doi: 10.1517/14656566.2012.657177. Epub 2012 Jan 31.
9
Inborn oxidative phosphorylation defect as risk factor for propofol infusion syndrome.
Acta Anaesthesiol Scand. 2012 Apr;56(4):520-5. doi: 10.1111/j.1399-6576.2011.02628.x. Epub 2012 Jan 19.
10
Cognitive errors detected in anaesthesiology: a literature review and pilot study.
Br J Anaesth. 2012 Feb;108(2):229-35. doi: 10.1093/bja/aer387. Epub 2011 Dec 8.

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验