特发性炎性肌病自身抗体与临床表型间关联的研究进展

摘要/Abstract

摘要：

肌炎特异性自身抗体（myositis specific autoantibody,MSA）对于特发性炎性肌病（idiopathic inflammatory myopathy,IIM）的诊断及分型具有重要的意义。IIM有多种临床表型,包括抗合成酶综合征、免疫介导的坏死性肌病、皮肌炎、临床无肌病性皮肌炎、幼年型皮肌炎、肿瘤相关性肌炎和包涵体肌炎等。不同MSA与以上疾病独特的临床表现及病理表型密切相关,同时部分自身抗体的滴度也与肌炎活动度评分及患者预后间具有一定相关性。因此,MSA检测有助于临床鉴别疾病亚型、实施个性化治疗及判断预后。

关键词:特发性炎性肌病,自身抗体,皮肌炎,多发性肌炎

Abstract:

Myositis specific autoantibodies(MSA) are important for the diagnosis and classification of idiopathic inflammatory myopathy (IIM). It reveales that there is a close relationship between various types of MSA and unique clinical manifestations as well as pathological phenotypes. The titers of some autoantibodies are also correlated with the disease activity score and prognosis. Therefore, detection of MSA is helpful to the identification of the disease subtypes, personalized treatment selection and the judgement of prognosis in clinical practice. In future, more in-depth researches on MSA are needed to furtherly explore the pathogenic mechanism of the disease.

Key words:Idiopathic inflammatory myopathy,Autoantibodies,Dermatomyositis,Polymyositis

中图分类号:

R593.2

张浩, 池慧慧, 苏禹同, 杨程德. 特发性炎性肌病自身抗体与临床表型间关联的研究进展[J]. 诊断学理论与实践, 2022, 21(03): 408-414.

ZHANG Hao, CHI Huihui, SU Yutong, YANG Chengde. Study on advances in the association between autoantibodies and clinical phenotypes in idiopathic inflammatory myopathy[J]. Journal of Diagnostics Concepts & Practice, 2022, 21(03): 408-414.

图/表1

表1

肌炎特异性自身抗体及相关临床表型

肌炎特异性自身抗体	肌炎患者中检测阳性率	相关肌炎类型	病理	肺	皮肤	肌肉	肿瘤相关性	其他	预后
抗ARS	成人：21%~30%,儿童：5%~8%	抗合成酶综合征	抗Jo-1阳性以束周坏死多见	多数起病时没有肺部累及的患者,随后会进展为间质性肺病	皮肌炎典型皮疹常见	肌肉累及程度因抗体类型不同	暂无报道	常有雷诺现象、技工手、关节炎、发热等症状	多数预后良好,但合并严重间质性肺病者预后较差
抗MDA5	成人：6%~36%,儿童：8%~28%	皮肌炎,临床无肌病性皮肌炎	血管纤维蛋白沉积为特征的血管病变,伴血管周围炎症	肺部累及多见	皮肌炎典型皮疹常见,可伴皮肤溃疡	肌肉症状常较轻或不累及肌肉	暂无报道	无	合并严重间质性肺病者预后差,死亡率高
抗SAE	成人：2%~8%,儿童：1%	皮肌炎	/	较少累及	皮肌炎典型皮疹常见	起病时较少累及肌肉,随病情进展可逐渐累及	有报道与肺癌、消化系统肿瘤及妇科肿瘤相关	无	预后良好
抗Mi-2	成人：5%~10%,儿童：2%~4%	皮肌炎	可有严重的肌肉纤维化及炎细胞浸润	较少累及	皮肌炎典型皮疹常见	肌肉症状常较严重	有报道	无	治疗反应较好,复发率低
抗NXP2	成人：4%~12%,儿童：16%~23%	皮肌炎,肿瘤相关性肌炎	可见CD4⁺T细胞浸润	较少累及	皮肌炎典型皮疹常见	起病时肌肉症状较重,可伴吞咽困难	有报道	与钙质沉着相关	复发率较高
抗TIF1-γ	成人：4%~13%,儿童：16%~35%	皮肌炎,肿瘤相关性肌炎	/	较少累及	严重皮疹包括向阳疹,红白斑块等	肌肉症状常较轻	与成人（>50岁）恶性肿瘤密切相关	与钙质沉着相关	合并肿瘤的患者预后较差,生存率较低
抗SRP	成人：4%~15%,儿童：1%~4%	免疫介导的坏死性肌病	肌纤维坏死及较少的淋巴细胞或炎症浸润	较少累及	较少出现皮疹且通常不典型	严重且快速进展的对称性近端肌无力症状	暂无报道	可累及心脏	治疗反应常较差,病死率较高
抗HMGCR	成人：6%~10%,儿童：1%	免疫介导的坏死性肌病	肌纤维坏死及较少的淋巴细胞或炎症浸润	较少累及	较少出现皮疹且通常不典型	严重且快速进展的对称性近端肌无力症状	有报道与罹患肿瘤风险增加相关	与他汀暴露关系密切	年轻患者较年长患者预后差
抗cN1A	包涵体肌炎中阳性率35%~50%	包涵体肌炎	可见嗜酸性胞质包涵体	较少累及	皮疹不常见	肌酸激酶水平轻度升高	暂无报道	可见于其他自身免疫疾病	死亡风险增高

表1

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