以“肌炎”首诊的线粒体肌病一例并文献复习  

A Case of Mitochondrial Myopathy First Diagnosed as"Myositis"and Literature Review

作　　者：贾潇 牛牧 葛巍 JIA Xiao;NIU Mu;GE Wei(Department of Neurology,the Affiliated Hospital of Xuzhou Medical University,Xuzhou 221002,Jiangsu Province,China)

机构地区：[1]徐州医科大学附属医院神经内科,江苏徐州221002

出　　处：《罕少疾病杂志》2024年第12期4-5,共2页Journal of Rare and Uncommon Diseases

基　　金：国家自然科学基金(81501081)。

摘　　要：目的分析以“肌炎”首诊的线粒体肌病的临床表现,及诊治经过,以提高对该疾病的认识。方法回顾性分析以“肌炎”首诊的线粒体肌病患者的临床资料,并结合文献进行分析。结果该患者抗PL-7抗体IG阳性,肌电图示肌源性损害,首诊科室风湿免疫科诊断为肌炎,血液及唾液线粒体基因组为阴性,全外显子示CACNA1S基因NM_000069.3:c.520C>T(p.R174W)杂合变异,来源为母源,乳酸运动试验为阳性,肌肉活检确诊为线粒体肌病。结论四肢无力的青年患者,临床上需与线粒体肌病等鉴别,以免漏诊误诊。Objective To analyze the clinical manifestation,diagnosis and treatment process of Mitochondrial myopathy first diagnosed as"myositis",so as to improve the understanding of the disease.Methods 1 cases were retrospectively analyzed forMitochondrial myopathy diagnosed as myositis for the first time in patients with clinical data,combined with literature analysis.Results The patient's anti PL-7 antibody IG is positive,and the electromyography shows myogenic damage.The diagnosis from the Rheumatology and Immunology Department of the first diagnosis department is myositis,The mitochondrial genomes of blood and saliva were negative.The entire exon shows NM of the CACNA1S gene_000069.3:c.520C>T(p.R174W)heterozygous variation,sourced from the mother,positive for lactate exercise test,and confirmed as mitochondrial myopathy by muscle biopsy.Conclusion Young patients with limb weakness need to be differentiated from mitochondrial myopathy in clinical practice to avoid misdiagnosis.

关 键 词：线粒体肌病 肌炎 抗PL-7抗体IG 

分 类 号：R685.2[医药卫生—骨科学]