肌炎抗体在炎性肌病中的表达及意义

目的探讨肌炎抗体在特发性炎性肌病(IIM)患者中的表达及意义。方法收集2018年8月—2021年4月在安徽医科大学附属安庆医院住院的49例行肌炎抗体检测的IIM患者的临床资料,分析肌炎抗体与IIM患者的临床特征、实验室指标和预后的关系。结果 49例IIM患者中,肌炎抗体阳性者37例。肌炎特异性抗体(MSAs)中以抗氨基酰t-RNA合成酶(ARS)抗体(32.7%)和抗黑色素瘤分化相关基因5(MDA5)抗体(30.6%)阳性率最高;抗SSA/Ro抗体这种肌炎相关性抗体(MAA)亦有极高的阳性率(49.0%),多与MSAs合并出现。抗ARS抗体阳性者较少出现向阳性皮疹、"V"字征、披肩征、Gottron征,易出现技工手、肌痛、肺间质病变,淋巴细胞计数较阴性者高(P0.05);抗SSA/Ro抗体阳性者易出现肺间质病变,病死率较高(P0.05);抗Mi-2抗体阳性者易出现吞咽困难,天门冬氨酸氨基转移酶(AST)、肌酸激酶(CK)、乳酸脱氢酶(LDH)较阴性者高(P0.05);抗转录中介因子1γ(TIF1γ)抗体阳性者易合并肿瘤(P=0.015);抗MDA5抗体多见于皮肌炎(DM)和无肌病皮肌炎(ADM)患者,阳性者较阴性者易出现发热、向阳性皮疹、披肩征、Gottron征、关节痛、肺间质病变,病死率高,较少出现肌痛、肌无力,淋巴细胞计数、CK、LDH更低(P0.05)。Logistic回归分析发现抗ARS抗体是"V"字征、Gottron征的保护因素(P0.05);抗组氨酰tRNA合成酶(Jo-1)抗体是技工手的独立危险因素(OR=15.417, 95%CI为2.641～90.000,P=0.002);抗Mi-2抗体是吞咽困难的独立危险因素(OR=21.000, 95%CI为1.544～285.685,P=0.022);抗TIF1γ抗体是肿瘤的独立危险因素(OR=44.000, 95%CI为2.709～714.585,P=0.008);抗MDA5抗体是发热、向阳性皮疹、关节痛、肺间质病变的独立危险因素,是肌痛、肌无力的保护因素(P0.05)。Cox回归分析发现抗MDA5抗体是IIM患者死亡的独立危险因素(HR=16.023, 95%CI为1.944～135.066,P=0.010)。结论肌炎抗体在IIM患者中阳性率高,其亚型与患者的临床特征、实验室指标及预后密切相关。检测肌炎抗体对指导IIM患者的诊治和预后判断具有重要意义。     

抗SRP抗体阳性和抗PM/Scl抗体阳性多发性肌炎 1例并文献复习

正多发性肌炎(polymyositis,PM)是以四肢近端肌肉受累为主要临床表现的获得性肌肉疾病,与皮肌炎、散发性包涵体肌炎及免疫介导坏死性肌病合称为特发性炎性肌病[1,2]。大多数特发性炎性肌病患者血清中可存在肌炎抗体,包括抗信号识别颗粒抗体(抗SRP抗体),有学者提出抗SRP抗体为特异     

以肝酶学异常为临床特点的抗SRP抗体阳性免疫坏死性肌病2例并文献复习

免疫介导的坏死性肌病(immune-mediated necrotizing myopathy,IMNM)是一种自身免疫性肌病,以较严重的对称性四肢近端肌肉无力、肌纤维坏死为突出表现;主要由抗信号识别颗粒(signal recognition particle,SRP)肌病、抗HMGCR肌病和自身抗体阴性IMNM组成....     

抗TIF1-γ抗体阳性特发性炎性肌病患者的临床特征

目的分析抗TIF1-γ抗体阳性特发性炎性肌病(IIM)患者的临床特征。方法选取2017年5月至2020年7月于我院就诊且临床资料完善的IIM患者264例,根据肌炎特异性抗体检测结果进行分组。分别比较TIF1-γ抗体阳性组与抗体全阴性组、抗MDA5抗体阳性组及抗Jo-1抗体阳性组的临床特征。将抗TIF1-γ抗体阳性组根据是否合并恶性肿瘤进一步分为肿瘤组和非肿瘤组,比较两组的临床特征。结果抗TIF1-γ抗体阳性组患者吞咽困难、眶周皮疹、恶性肿瘤占比高于抗体全阴性组,补体C3水平、CD3⁺、CD3⁺CD4⁺低于抗体全阴性组(P<0.05)。抗MDA5抗体阳性组患者吞咽困难、“V”形疹、恶性肿瘤占比及CK水平低于抗TIF1-γ抗体阳性组,Gottron征、关节炎、间质性肺炎占比及ESR、CEA、IgG水平高于抗TIF1-γ抗体阳性组(P<0.05);抗Jo-1抗体阳性组患者吞咽困难、呛咳、眶周皮疹、“V”形疹、恶性肿瘤占比低于抗TIF1-γ抗体阳性组,间质性肺炎占比及补体C3水平高于抗TIF1-γ抗体阳性组(P<0.05)。肿瘤组患者肌无力、肌痛、眶周皮疹占比高于非肿瘤组,CK、IgG水平低于非肿瘤组(P<0.05)。结论有明显肌痛、皮疹,低水平血清CK和IgG的抗TIF1-γ抗体阳性患者伴发恶性肿瘤的风险高,临床应尽早进行肿瘤筛查,以早期诊断,积极治疗。     

MRI诊断皮肌炎与多发性肌炎的探讨

目的探讨磁共振成像(MRI)在诊断皮肌炎(DM)、多发性肌炎(PM)中的价值。方法使用GE公司的SignaMR/i对2001年11月～2002年8月我科收治的26例确有肌炎的患者(包括活动期DM/PM10例,稳定期DM/PM14例,SLE伴活动性肌炎2例)及15例无肌炎的结缔组织病、关节病或临床有肌肉酸痛的患者大腿肌群进行MRI扫描,对比其MRI表现,并结合活动期患者的肌酶(肌酸磷酸激酶CPK)、肌电图(EMG)、肌肉活检结果,比较4种检查的敏感性。结果①12例处于活动期肌炎(其中10例初发,2例复发)患者双大腿肌群的MRI上均有异常表现,占100%(灵敏度);在14例稳定期肌炎患者的MRI中也发现10例异常,占71.4%;15例无肌炎的患者(阴性对照组)MRI上均正常;②12例活动期肌炎患者中9例CPK升高,占75%(灵敏度);③12例活动期肌炎患者中9例行EMG检查,8例有肌源性肌电损害,占88.9%(灵敏度);④12例活动期肌炎患者中10例行肌肉活检,7例有肌炎改变,占70%(灵敏度)。得出,在活动期肌炎的辅助检查中,MRI的灵敏度高于CPK、肌肉活检,有统计学意义(P<0.01),而与肌电图的灵敏度差异不明显;且非活动期肌炎,71.4%患者的MRI也发现异常表现。结论①根据肌炎在MRI上有异常表现且灵敏度较高的特点,MRI有可能作为诊断DM/PM的另一有效手段;其与肌酶、肌电图和肌肉活检相比有无创、灵     

特发性炎性肌病误诊为肝损伤25例临床分析

目的探讨特发性炎性肌病(idiopathic inflammatory myopathies,IIM)误诊为肝损伤的原因,以提高IIM诊治水平。方法回顾分析曾长期误诊为肝损伤的IIM 25例的临床表现、肌酶谱、炎性指标及随访情况。结果本组表现为发热19例(76%),有典型向阳疹16例(64%),肌痛18例(72%);对称性四肢近端肌无力24例(96%)。肌电图异常24例。肌活检异常15例。胸部HRCT证实伴不同程度的间质性肺疾病19例(76%)。25例血清肌酸激酶(CK)、天冬氨酸转氨酶(AST)、丙氨酸转氨酶(ALT)均升高,AST/ALT均1,AST与ALT升高与CK增高呈显著正相关(r=0.934、0.865,P0.01)。误诊为药物性肝损伤3例,不明原因肝损伤22例;误诊时间3~11个月。均结合临床表现及自身抗体、肌电图、胸部HRCT检查确诊并予糖皮质激素联合免疫抑制剂治疗。随访0.5~5年,20例(80%)病情平稳,2例(8%)糖皮质激素减量后复发,3例(12%)因间质性肺疾病伴感染致呼吸衰竭死亡。结论 IIM患者临床表现特殊,AST与ALT升高与CK增高呈正相关。对IIM认识不足是本组误诊的主要原因,提高基层医院医师对该病的认识水平是避免误诊的关键。     

甲减性类多肌炎样综合征与特发性炎性肌病合并甲状腺功能减退症鉴别

目的探讨甲减性类多肌炎样综合征与多发性肌炎或结缔组织病伴肌病间的异同点,从而减少误诊、漏诊。方法分析6例甲减性类多肌炎样综合征与4例甲状腺功能减退症伴多发性肌炎或结缔组织病伴肌病患者的临床资料以寻找规律并复习相关文献。结果甲减性类多肌炎样综合征与特发性炎性肌病在肌肉方面的表现相似,均有肌痛、肌无力、肌酶升高,但甲状腺功能、自身抗体、肌电图及肌肉病理多有不同,治疗方法迥异。急性炎症指标鉴别价值不大。结论对于肌肉无力和肌酶升高的患者需常规检测甲状腺功能。甲状腺功能及肌肉病理对鉴别甲减性类多肌炎样综合征和特发性炎性肌病所致肌肉病变至关重要。     

实验室检测对多发性肌炎及皮肌炎患者预后评估的意义

目的:探讨肌电图、各种自身抗体及血清肌酶在多发性肌炎/皮肌炎患者中的检测及评估作用。方法:选择2001-01/2004-06江西医学院第二附属医院神经内科及皮肤科门诊、住院,临床确诊多发性肌炎/皮肌炎患者47例,男16例,女31例,年龄4～73岁。对照组40例,均为本院健康献血员,男20例,女20例,年龄23～52岁。采用keypoint肌电/诱发电位,对47例多发性肌炎/皮肌炎患者进行同心针常规肌电图检查;检测两组对象抗核抗体和抗细胞浆抗体应用间接免疫荧光法;检测抗JO-1抗体应用免疫印迹技术,测定血清肌酶采用全自动生化分析仪。结果:47例多发性肌炎/皮肌炎患者和40例健康对照者血样合格,均进入结果分析。①47例多发性肌炎/皮肌炎患者中肌电图呈肌原性损害39例(其中包括不典型肌原性损害2例、神经原性损害1例),异常率为83%(39/47)。②抗核抗体,抗细胞浆抗体及抗JO-1抗体阳性率:多发性肌炎/皮肌炎患者检测抗细胞浆抗体及抗JO-1抗体阳性率明显多于对照组犤19%(9/47),0;23%(11/47),0,χ2=6.479,10.717,P<0.05,0.01犦,抗核抗体阳性率与对照组基本接近犤15%(7/47),5%(2/40),χ2=2.281,P>0.05犦。③血清肌酸激酶、乳酸脱氢酶、天冬氨酸氨基转移酶、α-羟丁酸脱氢酶活性:发性肌炎/皮肌炎患者明显高于对照组犤(17.056±8.713),(1.959±1.375)μkat/L;(4.311±1.815),(2.254±0.847)μkat/L;(1.96±1.330),(0.575±0.490)μkat/L;(7.476±5.961),(2.257±0.995)μkat/L,t=2.46～18.01,P<0.01犦。结论:①多发性肌炎/皮肌炎患者肌电图异常率,抗核抗体、抗细胞浆抗体、抗JO-1抗体阳性率较高,血清肌酸激酶、乳酸脱氢酶、天冬氨酸氨基转移酶、α-羟丁酸脱氢酶活性增高,以上指标的检测对指导治疗和对预后评估有重要意义。     

抗小泛素样修饰物激活酶抗体阳性结缔组织病患者临床特征

目的 探究抗小泛素样修饰物激活酶（small ubiquitin-like modifier activating enzyme,SAE）抗体阳性结缔组织病患者的临床特征。方法 回顾性选择2015年1月1日—2021年5月30日于四川大学华西医院就诊的完善了肌炎自身抗体筛查的患者，筛选出抗SAE抗体阳性的患者。根据抗SAE抗体阳性患者的临床资料分为以下几组：(1)合并肿瘤组、未合并肿瘤组；(2)合并ILD组、未合并ILD组；(3)炎性肌病组、非炎性肌病组。收集上述患者的临床症状、体征、实验室检查、影像学检查等临床资料。结果 共筛选接受肌炎自身抗体检查患者1 594例，其中抗SAE抗体阳性56例，阳性率为3.5%。在56例患者中，32.1%皮肤受累、35.7%肌肉受累、12.5%关节受累、5.4%吞咽困难、5.4%体重下降、58.9%合并间质性肺疾病（interstitial lung disease,ILD）以及12.5%存在肿瘤病史。合并肿瘤组和未合并肿瘤组在年龄、性别、以及是否有皮肤受累、肌肉受累、关节受累、呼吸系统受累方面进行比较，差异均无统计学意义（P>0.05）。除年龄...     

5例无肌病性皮肌炎并文献复习

目的：探讨无肌病性皮肌炎的临床特点。方法：回顾性分析符合Euwer提出的ADM诊断标准的5例患者的临床资料,包括临床症状体征、肌酶谱、肌电图、肌肉病理检查、胸部影像学检查、治疗方案。结果：所有患者均先后出现皮肌炎典型皮损,无肌痛或肌无力等主诉,肌酶谱、肌电图均正常。2例抗核抗体阳性,3例有肌活检非特异性改变,1例合并间质性肺炎,无患者合并恶性肿瘤。结论：皮肌炎是一种复杂的综合征,需要行全身系统检查,结合肌电图和肌肉病理检查进行综合诊断。     

特发性炎症性肌病16例误诊分析

目的 总结特发性炎症性肌病的临床表现,分析误诊原因,从而提高认识.方法 回顾性分析1993年1月至2006年12月在我院确诊的特发性炎症性肌病的误诊情况.结果 特发性炎症性肌病初诊时误诊为其他疾病共16例,误诊率高达22.22%.误诊疾病包括敏感性皮炎、药物疹、荨麻疹等皮肤疾病共6例(6/16),肺部病变5例(5/16),肝功能异常2例(2/16),风湿热2例(2/16),心律失常1例(1/16).误诊病例的最后确诊时间从半月至6月不等.结论 特发性炎症性肌病临床表现复杂,容易被误诊,尤其早期肌病不明显患者,临床上应引起重视.     

Statin myopathy as a metabolic muscle disease

The etiology of statin myopathy remains unclear and concern about this toxicity is a leading reason that statins are underutilized. A number of observations suggest that this toxicity may be due to the metabolic effects of lipid-lowering in patients with minor muscle disorders. These patients have a high frequency of mutations for metabolic muscle diseases and often have depleted mitochondrial enzymes. Their exercise physiology and biopsy findings indicate reduced oxidation of fats and mitochondrial dysfunction. These subjects are often intolerant of other lipid-lowering therapies in addition to statins, which suggests that the myopathy is due to lipid-lowering itself more than a simple pharmacokinetic reaction to high statin levels. Altogether, these findings support the concept that statin myopathy is a metabolic muscle disease.     

特发性肌病的病理分型及其与患者功能障碍和预后的关系

背景肌肉活检病理是诊断特发性炎症性肌病(inflammatory myopathies,IM)的重要手段.然而目前,对于肌肉病理改变与患者的功能障碍及预后的联系,缺少大型系统性的研究.目的提出并探讨IM的肌肉活检病理类型及其与患者的功能障碍及预后的联系.设计以诊断为依据,回顾性研究.单位济南市中心医院神经内科及山东大学齐鲁医院神经内科.对象山东大学齐鲁医院神经病理实验室的630例肌活检标本中检出病理确诊和拟诊的炎症性肌病.方法回顾性分析IM的病理改变,归纳出各病理类型的特点.随访并评估IM患者的预后情况.主要观察指标①肌肉病理改变,主要包括纤维坏死的程度、坏死的分布特点和炎症细胞浸润的情况.②临床特点(吞咽、肌痛、肌无力、皮肤损害等)及其愈后.结果共检出IM119例,其中重、中、轻度坏死性肌炎分别为11例、19例和27例,束周坏死/萎缩性肌炎20例,无炎细胞浸润的坏死性肌炎22例,间质性肌炎11例,肌筋膜炎3例,包涵体肌炎4例,肉芽肿性肌炎和增殖性肌炎各1例.其中72例获得随访资料,轻度坏死性肌炎和束周坏死/萎缩性肌炎的好转和治愈的百分比高于中、重度坏死性肌炎.间质性肌炎和无炎细胞浸润的坏死性肌炎高于重度坏死性肌炎.结论IM的病理类型对判断预后具有重要的参考价值.     

Idiopathic Inflammatory Myopathies: Current Trends in Pathogenesis,Clinical Features,and Up-to-Date Treatment Recommendations

Recently, there have been important advances in the understanding of the pathophysiologic features, assessment, and management of patients with a newly diagnosed idiopathic inflammatory myopathy (IIM). Myositis-specific autoantibodies have been identified to define patient subgroups and offer prognostic implications. Similarly, proinflammatory cytokines, such as interleukin 6 and type 1 interferon–dependent genes, may serve as potential biomarkers of disease activity in adult and juvenile patients with dermatomyositis (DM). Moreover, magnetic resonance imaging has become an important modality for the assessment of muscle inflammation in adult IIM and juvenile DM. Immune-mediated necrotizing myopathies also are being recognized as a subset of IIM triggered by medications such as statins. However, confusion exists regarding effective management strategies for patients with IIM because of the lack of large-scale, randomized, controlled studies. This review focuses primarily on our current management and treatment algorithms for IIM including the care of pediatric patients with juvenile DM. For this review, we conducted a search of PubMed and MEDLINE for articles published from January 1, 1970, to December 1, 2011, using the following search terms: idiopathic inflammatory myopathies, dermatomyositis, polymyositis, juvenile dermatomyositis, sporadic inclusion body myositis, inclusion body myositis, inflammatory myositis, myositis, myopathies, pathogenesis, therapy, and treatment. Studies published in English were selected for inclusion in our review as well as additional articles identified from bibliographies.     

Magnetic resonance imaging of inflammatory myopathies

The following article reviews the role of magnetic resonance imaging (MRI) in patients with idiopathic inflammatory myopathies (IIMs), focusing on the 3 major types of IIM: polymyositis, dermatomyositis, and inclusion-body myositis. After a brief introduction with general information about IIM, we will discuss the reasons why MRI plays an important role in the diagnosis and management of patients with polymyositis, dermatomyositis, and inclusion-body myositis. Magnetic resonance imaging can confirm the diagnosis and can help to phenotype the disease. Moreover, the support of MRI is important in addressing the muscle biopsy site and in reducing the high false-negative rate of biopsy when performed in a blind fashion. In monitoring therapy, MRI can add important information about the activity of the muscle disease and can identify cases where continued immunosuppressive therapy is no longer warranted owing to complete fatty replacement of the muscles. Lastly, we provide an overview about some advanced MRI techniques that focus more on function than on morphology of muscle.     

Inclusion body myositis masquerading as polymyositis: a case study

A case of inclusion body myositis masquerading as unresponsive polymyositis is presented. A 56-year-old woman diagnosed with "biopsy-proven" polymyositis in 1991 was referred to our clinic in 1997 with progressive, painless weakness that was unresponsive to steroid therapy. Further evaluation, including electromyography and review of the original muscle biopsy specimen, found a diagnosis of inclusion body myositis, leading to a change in the patient's prognosis and management. Inclusion body myositis is frequently mistaken for polymyositis, despite the fact that it is now the most common inflammatory myopathy affecting people older than 50 years. The purpose of this report is to increase awareness of this disease, to enhance early diagnosis, and to ensure appropriate management. We discuss the clinical findings, pathogenesis, and physiatric management, as well as compare this disease with other idiopathic inflammatory myopathies.     

Diagnosis and Management of Immune-Mediated Myopathies

Immune-mediated myopathies (IMMs) are a heterogeneous group of acquired muscle disorders characterized by muscle weakness, elevated creatine kinase levels, and myopathic electromyographic findings. Most IMMs feature the presence of inflammatory infiltrates in muscle. However, the inflammatory exudate may be absent. Indeed, necrotizing autoimmune myopathy (NAM), also called immune-mediated necrotizing myopathy, is characterized by a necrotizing pathologic process with no or minimal inflammation in muscle. The recent discovery of antibodies associated with specific subtypes of autoimmune myopathies has played a major role in characterizing these diseases. Although diagnostic criteria and classification of IMMs currently are under revision, on the basis of the clinical and muscle histopathologic findings, IMMs can be differentiated as NAM, inclusion body myositis (IBM), dermatomyositis, polymyositis, and nonspecific myositis. Because of recent developments in the field of NAM and IBM and the controversies around polymyositis, this review will focus on NAM, IBM, and dermatomyositis.