Allenbach Y, Benveniste O
Service de médecine interne, centre de référence des maladies neuromusculaires Paris Est, groupe hospitalier Pitié-Salpêtrières, 83, boulevard de l'Hôpital, 75013 Paris, France.
Rev Neurol (Paris). 2013 Aug-Sep;169(8-9):656-62. doi: 10.1016/j.neurol.2013.01.622. Epub 2013 Apr 30.
Idiopathic myopathies are a group of acquired muscular diseases considered as autoimmune disorders. Characteristic histopathologic features allow the classification into myositis (polymyositis, dermatomyositis, and inclusion body myositis) and immune-mediated necrotizing myopathies. But overlapping histological features may be observed between different idiopathic myopathies and even between acquired and genetic muscular diseases. In the group of idiopathic myopathies important discrepancies can be observed concerning extra-muscular involvement and prognosis.
The discovery of myositis-specific antibodies and myositis-associated antibodies has led to a serologic approach complementary to histological classification, because striking associations of myositis-specific antibodies with clinical features and survival were observed. Here we reviewed the myositis-specific antibodies including autoantibodies directed against the aminoacyl tRNA-synthetase enzymes, the Mi-2 protein and the signal recognition particle, and the main myositis-associated autoantibodies, that can be tested in clinical practice.
We will also focus on newly described dermatomyositis-associated antibodies (directed against: transcription intermediary factor 1 family proteins, small ubiquitin-like modifier activating enzyme, and melanoma differentiation-associated gene 5), and immune-mediated necrotizing myopathy-associated antibodies (directed against HMGcoA-reductase).
Myositis-specific antibodies and myositis-associated antibodies are useful for the diagnosis of forms of autoimmune myopathies with distinct clinical features. They may help to define patients into clinical syndromes with specific outcomes and thus influence treatment strategies.
特发性肌病是一组被视为自身免疫性疾病的后天性肌肉疾病。特征性组织病理学特征可将其分为肌炎(多发性肌炎、皮肌炎和包涵体肌炎)和免疫介导的坏死性肌病。但不同特发性肌病之间甚至后天性和遗传性肌肉疾病之间可能会观察到重叠的组织学特征。在特发性肌病组中,关于肌肉外受累情况和预后可观察到重要差异。
肌炎特异性抗体和肌炎相关抗体的发现带来了一种与组织学分类互补的血清学方法,因为观察到肌炎特异性抗体与临床特征及生存率之间存在显著关联。在此,我们回顾了可在临床实践中检测的肌炎特异性抗体,包括针对氨酰tRNA合成酶、Mi-2蛋白和信号识别颗粒的自身抗体,以及主要的肌炎相关自身抗体。
我们还将关注新描述的皮肌炎相关抗体(针对:转录中介因子1家族蛋白、小泛素样修饰激活酶和黑色素瘤分化相关基因5),以及免疫介导的坏死性肌病相关抗体(针对HMGcoA还原酶)。
肌炎特异性抗体和肌炎相关抗体有助于诊断具有不同临床特征的自身免疫性肌病形式。它们可能有助于将患者分为具有特定预后的临床综合征,从而影响治疗策略。