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妊娠合并线粒体脑肌病伴乳酸血症和卒中样发作(MELAS)综合征

Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome in pregnancy.

作者信息

Balachandran Nair Deepa, Bloomfield Mariana, Parasuraman Rajeswari, Howe David T

机构信息

Department of Obstetrics and Gynaecology, Stoke Mandeville Hospital, Aylesbury, UK

Department of Obstetrics and Gynaecology, University Hospital Southampton NHS Foundation Trust, Southampton, UK.

出版信息

BMJ Case Rep. 2021 Apr 7;14(4):e235111. doi: 10.1136/bcr-2020-235111.

DOI:10.1136/bcr-2020-235111
PMID:33827862
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8030665/
Abstract

The syndrome of mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) is a rare mitochondrial disease with few documented cases in pregnancy. In this case report, we discuss the presentation and management of a 39-year-old grand multiparous lady with MELAS syndrome, which was diagnosed prior to her eighth pregnancy, discuss potential implications of the condition in pregnancy and summarise the current guidelines for the management of this rare condition.

摘要

线粒体脑肌病伴乳酸酸中毒及卒中样发作综合征(MELAS)是一种罕见的线粒体疾病,孕期有记录的病例很少。在本病例报告中,我们讨论了一位39岁、有多次分娩史且患有MELAS综合征的女性患者的临床表现及治疗情况,该患者在第八次怀孕前被诊断为此病,探讨了该病症在孕期的潜在影响,并总结了目前针对这种罕见病症的治疗指南。

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本文引用的文献

1
A case-comparison study of pregnant women with mitochondrial disease - what to expect?线粒体疾病孕妇的病例对照研究——有哪些需要注意的?
BJOG. 2019 Oct;126(11):1380-1389. doi: 10.1111/1471-0528.15667. Epub 2019 Mar 27.
2
2018 ESC Guidelines for the management of cardiovascular diseases during pregnancy.2018年欧洲心脏病学会妊娠期心血管疾病管理指南。
Eur Heart J. 2018 Sep 7;39(34):3165-3241. doi: 10.1093/eurheartj/ehy340.
3
Mitochondrial disease in pregnancy: a systematic review.妊娠期线粒体疾病:一项系统综述
Obstet Med. 2011 Sep;4(3):90-4. doi: 10.1258/om.2011.110008. Epub 2011 Jun 23.
4
General anesthesia for adults with mitochondrial myopathy.线粒体肌病成人患者的全身麻醉
A A Case Rep. 2015 Mar 1;4(5):52-7. doi: 10.1213/XAA.0000000000000119.
5
Anesthetic management of an obstetric patient with MELAS syndrome: case report and literature review.一位患有线粒体脑肌病伴乳酸血症和卒中样发作(MELAS)综合征的产科患者的麻醉管理:病例报告及文献综述
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