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围手术期一名可能存在线粒体致病变异患者的横纹肌溶解症:病例报告

Rhabdomyolysis in a Patient With a Possible Mitochondrial Pathogenic Variant in the Peri-operative Period: A Case Report.

作者信息

Kam Joyce, Momoh Rabiu

机构信息

Critical Care Medicine, Medway Maritime Hospital, Gillingham, GBR.

出版信息

Cureus. 2024 Nov 13;16(11):e73577. doi: 10.7759/cureus.73577. eCollection 2024 Nov.

DOI:10.7759/cureus.73577
PMID:39677188
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11638889/
Abstract

Mitochondrial disorders are often underrecognized as potential causes of rhabdomyolysis, a condition characterized by acute muscle breakdown that can lead to local and potentially systemic complications, with the possibility of being life-threatening. Accounts of rhabdomyolysis as a peri-operative complication associated with mitochondrial disorders are rare; therefore, this study is noteworthy. We describe a case of rhabdomyolysis that occurred during the peri-operative period in a middle-aged male with Charcot-Marie-Tooth (CMT) disease-like peripheral neuropathy. Importantly, genetic studies confirmed that the patient's mother, sister, and maternal uncle carried the m.9176T>C (ATP6) mitochondrial pathogenic variant, which follows a maternal inheritance pattern. This suggests that the patient may have inherited the disorder as well.

摘要

线粒体疾病常未被充分认识为横纹肌溶解的潜在病因,横纹肌溶解是一种以急性肌肉分解为特征的病症,可导致局部及潜在的全身并发症,甚至可能危及生命。横纹肌溶解作为与线粒体疾病相关的围手术期并发症的报道很少;因此,本研究值得关注。我们描述了一例围手术期发生横纹肌溶解的病例,患者为一名患有类似夏科-马里-图斯(CMT)病周围神经病变的中年男性。重要的是,基因研究证实患者的母亲、姐姐和舅舅携带m.9176T>C(ATP6)线粒体致病性变异,该变异遵循母系遗传模式。这表明患者可能也遗传了该疾病。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6cf1/11638889/44b54eb0f87a/cureus-0016-00000073577-i08.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6cf1/11638889/30074d57c567/cureus-0016-00000073577-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6cf1/11638889/51c12a24492a/cureus-0016-00000073577-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6cf1/11638889/ddd1f8d3adc6/cureus-0016-00000073577-i03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6cf1/11638889/50d083240e8f/cureus-0016-00000073577-i04.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6cf1/11638889/8e4e3451c859/cureus-0016-00000073577-i05.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6cf1/11638889/e53fe7062292/cureus-0016-00000073577-i06.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6cf1/11638889/cdc1d592a0ab/cureus-0016-00000073577-i07.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6cf1/11638889/44b54eb0f87a/cureus-0016-00000073577-i08.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6cf1/11638889/30074d57c567/cureus-0016-00000073577-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6cf1/11638889/51c12a24492a/cureus-0016-00000073577-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6cf1/11638889/ddd1f8d3adc6/cureus-0016-00000073577-i03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6cf1/11638889/50d083240e8f/cureus-0016-00000073577-i04.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6cf1/11638889/8e4e3451c859/cureus-0016-00000073577-i05.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6cf1/11638889/e53fe7062292/cureus-0016-00000073577-i06.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6cf1/11638889/cdc1d592a0ab/cureus-0016-00000073577-i07.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6cf1/11638889/44b54eb0f87a/cureus-0016-00000073577-i08.jpg

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本文引用的文献

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A Case Report of a Clinically Suspected Diagnosis of Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS) Syndrome With Cardiac Impairment.一例临床疑似诊断为线粒体脑肌病伴乳酸酸中毒和卒中样发作(MELAS)综合征合并心脏损害的病例报告。
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