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患有甲基丙二酸血症患儿的麻醉考虑及文献复习。

Anaesthetic considerations in a child with methylmalonic acidemia and its literature review.

机构信息

Anaesthesiology, Pain Medicine and Critical care, All India Institute of Medical Sciences, New Delhi, India

Anaesthesiology, Pain Medicine and Critical care, All India Institute of Medical Sciences, New Delhi, India.

出版信息

BMJ Case Rep. 2020 Dec 9;13(12):e237270. doi: 10.1136/bcr-2020-237270.

Abstract

Methyl malonyl coenzyme A mutase deficiency is a rare autosomal inherited inborn error in branched-chain amino acid metabolism characterised by the accumulation of methylmalonic acids. There is relative paucity of literature regarding anaesthetic management of these children presenting for incidental major abdominal surgery. Preoperative management includes goal-directed correction of dehydration, metabolic acidosis and hyperammonemia. Anaesthetic goals include avoidance of factors that can trigger metabolic crisis like hypercapnia, hypothermia, hypoxia, surgical stress, hypovolaemia, hypotension and so on. Herein, we are reporting the anaesthetic management of a 17-month-old child with methylmalonic acidemia (MMA) posted for a major upper abdominal surgery for excision of an adrenal mass, which was incidentally diagnosed during admission for an episode of metabolic crisis. We aim to highlight the specific nuances of pathophysiology of the disease, preoperative optimisation, anaesthetic considerations, role of advanced monitoring and regional anaesthesia and current literature on the management of patients with MMA.

摘要

甲基丙二酰辅酶 A 变位酶缺乏症是一种罕见的常染色体遗传性支链氨基酸代谢障碍,其特征是甲基丙二酸的积累。关于这些因偶然的大型腹部手术而接受麻醉管理的儿童,相关文献相对较少。术前管理包括以目标为导向的纠正脱水、代谢性酸中毒和高氨血症。麻醉目标包括避免可能引发代谢危机的因素,如高碳酸血症、低体温、缺氧、手术应激、低血容量、低血压等。在此,我们报告了一例 17 个月大的甲基丙二酸血症(MMA)患儿的麻醉管理,该患儿因代谢危机入院,期间意外诊断出肾上腺肿块,需进行大型上腹部手术切除。我们旨在强调该疾病病理生理学的具体细节、术前优化、麻醉注意事项、高级监测和区域麻醉的作用,以及目前关于 MMA 患者管理的文献。

相似文献

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Methylmalonic acidemia and hyperglycemia: an unusual association.
Brain Dev. 2012 Feb;34(2):113-4. doi: 10.1016/j.braindev.2011.07.002. Epub 2011 Jul 28.
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本文引用的文献

9
Methylmalonic and propionic aciduria.甲基丙二酸尿症和丙酸尿症。
Am J Med Genet C Semin Med Genet. 2006 May 15;142C(2):104-12. doi: 10.1002/ajmg.c.30090.

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