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肌肉活检:成人起病性肌病精准医学的一项要求。

Muscle Biopsy: A Requirement for Precision Medicine in Adult-Onset Myopathy.

作者信息

Wu Meng-Ju, Liao Wei-An, Lin Po-Yu, Sun Yuan-Ting

机构信息

Department of Neurology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan 704, Taiwan.

Department of Pathology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan 704, Taiwan.

出版信息

J Clin Med. 2022 Mar 13;11(6):1580. doi: 10.3390/jcm11061580.

DOI:10.3390/jcm11061580
PMID:35329906
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8951002/
Abstract

Muscle biopsy is a fundamental procedure to assist the final diagnosis of myopathy. With the recent advances in molecular diagnosis, serology tests, and mechanism-based classification in myopathy, the précised diagnosis for myopathy required the applications of multiple tools. This study intends to reappraise the benefit of muscle biopsy in adult-onset myopathy under the setting of an optimized muscle biopsy protocol and comprehensive serology tests. A one-group pretest-posttest study design was used. The pre- and post-biopsy diagnoses and treatments in 69 adult patients were compared. Muscle biopsy yielded 85.5% of definitive diagnoses, including changes in pre-biopsy diagnoses (40.6%) and narrowing down the suspicious myopathies (49.3%). The demographic data and clinical parameters between the group "with change" and "without change" after biopsy were not different. Among those with changes in diagnosis, 39.3% also had a corresponding shift in treatment, which benefits the patients significantly. Regarding the most common adult-onset myopathy, idiopathic inflammatory myopathy (IIM), 41% of patients with pre-biopsy diagnosis as IIM had changes in their IIM subtype diagnosis, and 53% was finally not IIM after muscle biopsy. Although there have been advances in molecular diagnosis recently, muscle biopsy still undoubtedly critically guided the diagnosis and treatment of adult-onset myopathy in the era of precision medicine.

摘要

肌肉活检是辅助肌病最终诊断的一项基本检查。随着近年来分子诊断、血清学检测以及基于机制的肌病分类方法的进展,肌病的精确诊断需要多种工具的应用。本研究旨在通过优化肌肉活检方案和综合血清学检测,重新评估肌肉活检在成人起病型肌病中的作用。采用单组前后测研究设计。比较了69例成年患者活检前后的诊断和治疗情况。肌肉活检确诊率为85.5%,包括活检前诊断的改变(40.6%)和缩小可疑肌病范围(49.3%)。活检后“有改变”组和“无改变”组的人口统计学数据和临床参数无差异。在诊断有改变的患者中,39.3%的患者治疗也相应改变,这使患者明显受益。对于最常见的成人起病型肌病,即特发性炎性肌病(IIM),活检前诊断为IIM的患者中有41%的IIM亚型诊断发生改变,肌肉活检后53%的患者最终诊断不是IIM。尽管近年来分子诊断有了进展,但在精准医学时代,肌肉活检无疑仍然对成人起病型肌病的诊断和治疗起着关键的指导作用。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9ddb/8951002/f96beef32543/jcm-11-01580-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9ddb/8951002/d5785af2155e/jcm-11-01580-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9ddb/8951002/4733e473f8f7/jcm-11-01580-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9ddb/8951002/f73349e4d817/jcm-11-01580-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9ddb/8951002/f96beef32543/jcm-11-01580-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9ddb/8951002/d5785af2155e/jcm-11-01580-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9ddb/8951002/4733e473f8f7/jcm-11-01580-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9ddb/8951002/f73349e4d817/jcm-11-01580-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9ddb/8951002/f96beef32543/jcm-11-01580-g004.jpg

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本文引用的文献

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Idiopathic inflammatory myopathies: a review.特发性炎性肌病:综述。
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