散发性包涵体肌炎七例临床及病理特点

目的探讨散发性包涵体肌炎（sIBM）患者的临床及病理诊断规律。方法收集7例于2001年至2005年就诊并明确诊断为sIBM的患者临床、病理资料，发病年龄为41—75岁，平均57．4岁，病程2～10年，平均5．4年。全部患者均有股四头肌无力和萎缩，4例出现肢体远端无力，1例出现延髓部和颈部无力。其中伴随高血压和腔隙性脑梗死者2例，伴随脑出血、周围神经病和糖尿病各1例。7例患者均进行了肌肉活体组织检查标本的组织学、酶组织化学染色，5例进行电镜检查，3例进行了tau蛋白免疫组织化学染色。结果7例患者肌酶均升高，但未超过正常上限8倍。肌电图检查示5例呈肌源性损害，2例呈神经源性损害。所有患者的骨骼肌病理改变主要是肌内衣炎细胞浸润、肌纤维直径变异加大和镶边空泡（出现率2％一10％），5例出现不整红边纤维，3例有细胞色素C氧化酶染色阴性肌纤维。5例进行电镜检查者均存在管丝包涵体。3例免疫组织化学染色者均显示肌纤维内tau蛋白沉积。结论sIBM以股四头肌损害最明显，常合并其他老年性疾病。肌纤维内出现tau蛋白也可以作为该病诊断标准之一。     

散发性包涵体肌炎研究进展

最近的研究提示散发性包涵体肌炎的发病机制可能与免疫炎性反应、细胞变性、异常蛋白聚集、线粒体异常等有关,对于包涵体肌炎的诊断主要依赖病理诊断,免疫调节治疗可能有效。本文就包涵体肌炎发病机制的研究、临床表现及治疗等有关方面的最新进展进行了简要综述。     

散发性包涵体肌炎临床与肌肉病理特点

目的 探讨散发性包涵体肌炎(sIBM)的临床和肌肉病理特点。方法 回顾性分析5例sIBM患者的临床和肌肉病理资料。结果 本组5例患者中,男3例,女2例;发病年龄36～68岁,平均49.8岁;出现症状至确诊时间为2～12年,平均6.2年。5例患者均以双下肢无力隐匿起病,症状缓慢进展,逐渐发展为四肢无力。脑神经正常,四肢肌张力减低,腱反射减低或消失,上肢近端肌力Ⅲ～Ⅴ级,远端肌力Ⅲ～Ⅳ级;下肢近端肌力Ⅱ～Ⅴ级,远端肌力Ⅲ～Ⅳ级。5例患者均有不同程度的肌肉萎缩。EMG检查示4例呈肌源性损害,1例呈肌源性和神经源性共存的混合性损害。肌肉病理表现为肌纤维大小不等,可见萎缩和肥大肌纤维,散在有变性坏死肌纤维,伴炎性细胞浸润。5例患者均可见镶边空泡,4例可见炎性细胞侵入非坏死肌纤维现象。淋巴细胞亚群免疫组化染色可见CD8和CD68阳性淋巴细胞浸润。结论 sIBM好发于中老年人,除上肢远端指屈肌和下肢股四头肌无力以外,部分患者早期可有下肢远端肌无力。肌肉病理发现肌纤维中有镶边空泡和炎性细胞浸入非坏死肌纤维是确诊sIBM的重要依据。     

包涵体肌炎的肌肉病理

1967年Ｃｈｏｕ报道 1例“粘液病毒样结构慢性多发性肌炎”的 66岁男性患者 ,随后Ｓａｔｏ、Ｃｈｏｕ等和Ｃａｒｐｅｎｔｅｒ等报道 1例 ,1 971年Ｙｕｎｉｓ和Ｓａｍａｈａ报道 1例 2 6岁女性患者 ,光镜下可见细胞核、细胞质包涵体 ,电镜下可见微丝。首先提出包涵体肌炎 (ｉｎｃｌｕｓｉｏｎｂｏｄｙｍｙｏｓｉｔｉｓ,ＩＢＭ)这一概念[1 ,2 ] 。 1 978年Ｃａｒｐｅｎｔｅｒ等[2 ] 提出与多发性肌炎 (ＰＭ)、皮肌炎 (ＤＭ)的鉴别要点 ,认为ＩＢＭ主要累及远端肌肉 ,并发胶原血管病及恶性肿瘤罕见 ,皮质类固醇治疗无效。组织学可见线状空泡、…     

包涵体肌炎

报道一例包涵体肌炎患者，女，２５岁。表现为缓慢进展的两下肢无力５年，近半年两个肢亦无力。两侧肩胛带及骨盆带肌肉轻度萎缩。肌电图示轻收缩时运动电位平均时限缩短，多相电位增多。肌活检见部分肌纤维内出现空泡，在空泡的边缘 泡内有嗜盐基性颗粒状物质，Ⅰ型、Ⅱ型肌纤维无受累。     

3例包涵体肌炎的临床病理特点

<正> 资料和方法 例1:女,32岁。主诉双下肢无力4年,进行性加重。双上肢无力,喝水呛,吞咽困难2年,蹲下起不来,上楼困难,双小腿变细1年。无肌疼及肌束颤动。体格检查:神清、语利、双眼闭合不紧,示齿费力,鼓腮不能,鼻音重,咳嗽力弱。双侧肱二头肌、岗上肌、岗下肌肌力Ⅳ,双上肢远端肌力正常,双下肢股四头肌,腓肠肌,胫前肌肌力Ⅳ。肌张力低。双小腿肌萎缩明显。四肢腱反射消失。磷酸激酶65u/l,乳酸脱氢酶788u/l,谷草转氨酶22u/l,α-羟丁酸脱氢酶156u/l,自身抗体(一)、头颅CT(一),肌电图:肌源性损伤。     

包涵体肌炎11例临床及组织病理报告

目的探讨包涵体肌炎的诊断标准.方法分析了11例包涵体肌炎病人的临床表现、组织化学.碱性刚果红染色 9例,电镜检查2例.结果全部病人均在42岁后发病,表现为远、近端肌肉力弱,2例肌电图检查显示肌源性改变,11例均有边缘着色性空泡及炎性改变,9例有淀粉样蛋白沉积物,有胞核或胞质细丝包涵体各1例.结论包涵体肌炎的所有诊断指标中,无一项有决定性或特征性,需要进行综合判断.     

包涵体肌炎的临床与肌活检特征

包涵体肌炎 (inclusion- body myositis IBM)是一种少见的特发性炎性肌病。自 1971年 yumis首先使用 IBM这一名称以来 ,至今国外已报道 2 0 0余例 ,国内报道较少。本文报道 1例经电镜证实的 IDM,并对其临床表现与肌活检特征结合文献复习讨论。临　床　资　料　　患者 ,男 ,18岁 ,进行性双下肢乏力 ,肌肉变细 3年于2 0 0 0年 8月 2 3日入院。 3年前无明显诱因出现双下肢乏力 ,上楼梯困难 ,行走易疲劳 ,下蹲立起困难 ,无肢体麻木、酸痛 ,二便正常 ,二年前腰椎 MRI检查 ,未发现明显异常 ,渐渐出现双下肢变细。既往素健 ,无脑炎 ,中毒性脑…     

包涵体肌炎（综述）

１　历史回顾包涵体肌炎（ｉｎｃｌｕｓｉｏｎｂｏｄｙｍｙｏｓｉｔｉｓ,ＩＢＭ）是一种慢性炎症性肌病。其主要病理特点是肌浆或肌核内有管状细丝包涵体。Ｙｕｎｉｓ［１］首先提出ＩＢＭ这一疾病名称。在此之前Ａｄａｍｓ［２］等报告了１例肌细胞内包涵体肌病,这种包涵体在光镜下与Ｙｕｎｉｓ描述的包涵体很相似。后来Ｃｈｏｕ［３］在１例慢性多发性肌炎患者的肌肉中发现了这种包涵体,当时称之为粘病毒样结构。直至１９７８年Ｃａｒｐｅｎｔｅｒ［４］对１４例ＩＢＭ的临床病理特点进行了总结,并正式确立了ＩＢＭ为一独立疾病。此后…     

三例包涵体肌炎的临床与病理特点

目的探讨包涵体肌炎（ＩＢＭ）的临床与病理特点。方法总结３例ＩＢＭ病人的临床特点，并对肌活检标本进行酶组织化学、组织化学病理和超微病理研究。结果３例女性病人均在２４～３６岁发病，其临床特点为以双下肢无力起病，渐累及上肢，远端肢体受累常见。腱反射消失，血清肌酸激酶正常或轻度增高，肌活检光镜检查发现其主要病理改变为镶边空泡纤维，肌浆或肌核内有嗜酸性包涵体，肌内膜炎性细胞浸润和成群萎缩肌纤维。电镜观察发现３例均有肌浆内细丝或管状细丝包涵体，其中１例有核内包涵体。镶边空泡内含淀粉样细丝、髓样结构、絮状无结构物质和其他胞浆分解产物。肌核改变包括异染色质增多、核变大，核内包涵体及核崩解。结论电镜包埋、半薄切片定位是电镜下寻找包涵体并确诊ＩＢＭ的关键步骤。肌核改变可能是ＩＢＭ的病因基础，镶边空泡和肌浆内包涵体有可能来自于崩解的肌核。     

包涵体肌炎的临床与病理特点(附2例报告)

目的 探讨包涵体肌炎的临床与病理特点。方法 对2例包涵体肌炎患者的临床表现、肌肉组织化学、酶组织化学和超微结构等资料进行分析。结果 本组2例患者分别于41岁及54岁发病,均以双下肢无力起病,远端重于近端,并逐渐向上肢发展;血清肌酶轻～中度升高;肌电图示肌源性损害;肌肉活检光镜下主要表现为肌纤维内出现镶边空泡,少数变性坏死纤维,伴炎性细胞浸润。电镜观察证实肌浆内有大量涡轮状髓样小体及管状细丝包涵体。结论 包涵体肌炎临床表现缺乏特异性,肌肉病理学检查是诊断包涵体肌炎的重要手段。     

A review on the treatment of sporadic inclusion body myositis with Bimagrumab and Alemtuzumab

Background: Sporadic inclusion body myositis is the most common inflammatory myopathy over the age of 50. The aetiopathogenesis of the disease remains unclear and to the day there is no effective treatment.

Objectives: The aim of the present review is to present the latest data on the new insights and developments in the treatment of sporadic inclusion body myositis, focusing on Bimagrumab and Alemtuzumab.

Methods: For the purpose of the review we searched multiple internet databases in order to find the most recent studies and clinical trials on the safety, tolerability and efficacy of Bimagrumab and Alemtuzumab in sporadic inclusion body myositis.

Results: We found four trials on Bimagrumab, with one of them being an extension phase III study, and one small series trial on Alemtuzumab. The first clincopathological trial on Bimagrumab showed promising evidence, which were partially confirmed by the double-blinded controlled multicentre trial, however the primary endpoint of improving 6-m walking distance or improving the muscle strength has not been reached. The evidence from the Alemtuzumab trial was also promising, but the risk of bias of the study was relatively high, because it was open labelled, the number of patient was low and the yearly disease progression was much higher than in other recent studies.

Conclusions: Although both Bimagrumab and Alemtuzumab were well tolerated and showed promising results, the Bimagrumab trial did not reach the primary endpoint, and the Alemtuzumab trial has a relatively high risk of bias and the results need to be interpreted with caution.     

Inflammatory and non-inflammatory inclusion body myositis

Summary In ten patients with inclusion body myositis (IBM) five muscular biopsies showed profuse inflammatory exudates and three showed a few scattered inflammatory cells with partial invasion in some muscle fibers. No inflammatory cells were seen in two cases. In all patients, histopathological, histomorphometric and immunocytochemical studies were performed. Immunocytochemistry for the class I and class II major histocompatibility complex gene product (MHC) was performed in all cases and in ten control muscles including: normal muscles [3], dermatomyositis [3], polymyositis [3], scleroderma [1]. In the five cases of IBM with inflammatory exudates, subsets of lymphocytes were analyzed with a panel of monoclonal antibodies against B cells, T4 cells, T8 cells, K and natural killer cells and macrophages. Some muscle fibers expressed class I MHC antigens in the inflammatory cases of IBM. These fibers were near the inflammatory exudates and occasionally showed a partial invasion. No expression of class I MHC was found in normal muscles and in non-inflammatory cases of IBM. The antigen which triggers the mononuclear cells in the inflammatory forms of IBM is probably not the filamentous inclusions in rimmed vacuoles. In other inflammatory myopathies, expression of class I MHC was present on all fibers in polymyositis, only in the perifascicular area in dermatomyositis and in scleroderma. It could be suggested that the term inclusion body muscle disease be applied to cases with rimmed vacuoles and IBM-like filaments without inflammatory cells.     

Glucocorticoid-sensitive hereditary inclusion body myositis

We report a hereditary muscle disorder with features of inclusion body myositis (IBM) in two adult sisters with slowly progressive asymmetrical muscle weakness. The findings of light microscopic and ultrastructural investigations of muscle biopsy specimens were consistent with a diagnosis of IBM. Both patients improved and stabilized on immunosuppressive treatment with corticosteroids and azathioprine. This differentiates our patients from other sporadic and familial cases of IBM. Clinical and histological features are described and compared with those of other previously reported families with IBM.     

成年型皮肌炎的早期主要病理改变

目的　探讨微血管病理改变在皮肌炎发病中的表现规律及其诊断价值。方法　对 2例光镜下无典型病理改变的皮肌炎病人在光镜和电镜下观察微血管改变。结果　 2例病人均为成年男性 ,例 1出现严重四肢肌疼痛无力和皮肤损害 6天 ,例 2出现四肢皮肤损害和肌肉疼痛 2个月 ,无肌无力。 2例肌电图均显示肌源性损害。肌肉活检显示个别肌纤维坏死和萎缩 ,无炎细胞浸润和束周性肌萎缩 ,可见大量非特异性酯酶深染的小血管。电镜下毛细血管出现坏死和再生 ,内皮细胞内可见管网包涵体。结论　微血管病变是成年型皮肌炎主要病理改变 ,早于束周性肌萎缩和炎细胞浸润 ,应为皮肌炎病理诊断的指标之一 ,特别是此病的早期阶段或轻微病人。     

Clinical, pathological, and genetic mutation analysis of sporadic inclusion body myositis in Japanese people

Previous studies have identified several genetic loci associated with the development of familial inclusion body myopathy. However, there have been few genetic analyses of sporadic inclusion body myositis (sIBM). In order to explore the molecular basis of sIBM and to investigate genotype-phenotype correlations, we performed a clinicopathological analysis of 21 sIBM patients and screened for mutations in the Desmin, GNE, MYHC2A, VCP, and ZASP genes. All coding exons of the five genes were sequenced directly. Definite IBM was confirmed in 14 cases, probable IBM in three cases, and possible IBM in four cases. No cases showed missense mutations in the Desmin, GNE, or VCP genes. Three patients carried the missense mutation c.2542T>C (p.V805A) in the MYHC2A gene; immunohistochemical staining for MYHC isoforms in these three cases showed atrophy or loss of muscle fibers expressing MYHC IIa or IIx. One patient harbored the missense mutation c.1719G>A (p.V566M) in the ZASP gene; immunohistochemical studies of Z-band-associated proteins revealed Z-band abnormalities. Both of the novel heterogeneous mutations were located in highly evolutionarily conserved domains of their respective genes. Cumulatively, these findings have expanded our understanding of the molecular background of sIBM. However, we advocate further clinicopathology and investigation of additional candidate genes in a larger cohort.