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一名患有线粒体脑肌病伴乳酸血症和卒中样发作（MELAS）心肌病患者成功进行心脏-肾脏联合移植

Successful Simultaneous Heart-Kidney Transplant in a Patient With MELAS Cardiomyopathy.

作者信息

Arriola-Montenegro Jose, Mutschler Melinda, Cogswell Rebecca, Alexy Tamas, John Ranjit, Voeller Rochus, Humphreville Vanessa, Aggarwal Anjali, Maharaj Valmiki

机构信息

Department of Medicine, University of Minnesota, Minneapolis, Minnesota.

Cardiovascular Division, Department of Medicine, University of Minnesota, Minneapolis, Minnesota.

出版信息

JACC Case Rep. 2024 Sep 18;29(18):102523. doi: 10.1016/j.jaccas.2024.102523.

DOI:10.1016/j.jaccas.2024.102523
PMID:39359986
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11442279/
Abstract

Here we describe the first reported case of a patient with :m.3243A>G MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes)-associated cardiomyopathy who successfully underwent simultaneous heart-kidney transplantation.

摘要

在此，我们描述了首例有报道的携带m.3243A>G线粒体脑肌病伴乳酸酸中毒及卒中样发作（MELAS）相关心肌病的患者成功接受心脏-肾脏联合移植的病例。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/88f5/11442279/d6ac67eedd5b/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/88f5/11442279/ef44c42c1486/ga1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/88f5/11442279/d6ac67eedd5b/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/88f5/11442279/ef44c42c1486/ga1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/88f5/11442279/d6ac67eedd5b/gr1.jpg

相似文献

1
Successful Simultaneous Heart-Kidney Transplant in a Patient With MELAS Cardiomyopathy.一名患有线粒体脑肌病伴乳酸血症和卒中样发作（MELAS）心肌病患者成功进行心脏-肾脏联合移植
JACC Case Rep. 2024 Sep 18;29(18):102523. doi: 10.1016/j.jaccas.2024.102523.
2
Impediments to Heart Transplantation in Adults With MELAS Cardiomyopathy.线粒体脑肌病伴乳酸血症和卒中样发作心肌病成年患者心脏移植的障碍
J Am Coll Cardiol. 2022 Oct 11;80(15):1431-1443. doi: 10.1016/j.jacc.2022.04.067.
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MELAS线粒体脑肌病伴乳酸血症和卒中样发作
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Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes with an point mutation: Neuroradiological features and their implications for underlying pathogenesis.伴有乳酸酸中毒和卒中样发作的线粒体脑肌病伴单点突变：神经放射学特征及其对潜在发病机制的影响
Front Neurosci. 2023 Jan 6;16:1028762. doi: 10.3389/fnins.2022.1028762. eCollection 2022.
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MELAS Syndrome and Kidney Disease Without Fanconi Syndrome or Proteinuria: A Case Report.MELAS 综合征合并无范可尼综合征或蛋白尿的肾脏疾病：病例报告。
Am J Kidney Dis. 2016 Dec;68(6):949-953. doi: 10.1053/j.ajkd.2016.06.027. Epub 2016 Sep 24.
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Five non-mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes phenotype adult patients with m.3243A>G mutation after kidney transplantation: follow-up and review of the literature.5例肾移植后出现m.3243A>G突变的非线粒体肌病、脑病、乳酸酸中毒和卒中样发作表型成年患者：随访及文献复习
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Detection rates and phenotypic spectrum of m.3243A>G in the MT-TL1 gene: a molecular diagnostic laboratory perspective.MT-TL1 基因 m.3243A>G 的检测率及表型谱：分子诊断实验室视角。
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Ischemic optic neuropathy as first presentation in patient with m.3243 A > G MELAS classic mutation.伴有 m.3243A>G MELAS 经典突变的患者以缺血性视神经病变为首发表现。
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Mitochondrial DNA mutation "m.3243A>G"-Heterogeneous clinical picture for cardiologists ("m.3243A>G": A phenotypic chameleon).线粒体DNA突变“m.3243A>G”——心脏病专家面临的异质性临床表现（“m.3243A>G”：一种表型变色龙）
Congenit Heart Dis. 2018 Sep;13(5):671-677. doi: 10.1111/chd.12634. Epub 2018 Aug 21.

引用本文的文献

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A review of the link between the lactate-GPR81 axis and mitochondrial angiopathy in MELAS based on imaging characteristics.基于成像特征对MELAS中乳酸-GPR81轴与线粒体血管病之间联系的综述。
J Neurol. 2025 Aug 12;272(9):572. doi: 10.1007/s00415-025-13318-3.
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Diagnosis and Management of Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episodes Syndrome.线粒体脑肌病伴乳酸血症和卒中样发作综合征的诊断与管理
Biomolecules. 2024 Nov 28;14(12):1524. doi: 10.3390/biom14121524.

本文引用的文献

1
Impediments to Heart Transplantation in Adults With MELAS Cardiomyopathy.线粒体脑肌病伴乳酸血症和卒中样发作心肌病成年患者心脏移植的障碍
J Am Coll Cardiol. 2022 Oct 11;80(15):1431-1443. doi: 10.1016/j.jacc.2022.04.067.
2
Cardiac Outcomes in Adults With Mitochondrial Diseases.线粒体疾病成人患者的心脏结局
J Am Coll Cardiol. 2022 Oct 11;80(15):1421-1430. doi: 10.1016/j.jacc.2022.08.716.
3
Quantitative Variation in m.3243A > G Mutation Produce Discrete Changes in Energy Metabolism.m.3243A>G 突变的定量变异导致能量代谢的离散变化。
Sci Rep. 2019 Apr 8;9(1):5752. doi: 10.1038/s41598-019-42262-2.
4
Mitochondrial DNA mutation "m.3243A>G"-Heterogeneous clinical picture for cardiologists ("m.3243A>G": A phenotypic chameleon).线粒体DNA突变“m.3243A>G”——心脏病专家面临的异质性临床表现（“m.3243A>G”：一种表型变色龙）
Congenit Heart Dis. 2018 Sep;13(5):671-677. doi: 10.1111/chd.12634. Epub 2018 Aug 21.
5
Solid organ transplantation in primary mitochondrial disease: Proceed with caution.原发性线粒体疾病中的实体器官移植：谨慎行事。
Mol Genet Metab. 2016 Jul;118(3):178-184. doi: 10.1016/j.ymgme.2016.04.009. Epub 2016 Apr 20.
6
Monogenic mitochondrial disorders.单基因线粒体疾病
N Engl J Med. 2012 Mar 22;366(12):1132-41. doi: 10.1056/NEJMra1012478.
7
Chronic kidney disease, severe arterial and arteriolar sclerosis and kidney neoplasia: on the spectrum of kidney involvement in MELAS syndrome.慢性肾脏病、严重的动脉和小动脉硬化以及肾肿瘤：MELAS 综合征肾脏受累谱。
BMC Nephrol. 2012 Feb 21;13:9. doi: 10.1186/1471-2369-13-9.
8
Pathogenic mitochondrial DNA mutations are common in the general population.致病性线粒体DNA突变在普通人群中很常见。
Am J Hum Genet. 2008 Aug;83(2):254-60. doi: 10.1016/j.ajhg.2008.07.004.
9
Heart transplantation for progressive cardiomyopathy as a manifestation of MELAS syndrome.心脏移植治疗作为线粒体脑肌病伴乳酸血症和卒中样发作综合征表现的进行性心肌病。
J Heart Lung Transplant. 2005 Dec;24(12):2286-9. doi: 10.1016/j.healun.2005.05.012. Epub 2005 Sep 15.