抗核基质蛋白2抗体阳性幼年特发性炎性肌病临床特征分析并文献复习

Clinical analysis and literature review of juvenile idiopathic inflammatory myopathy with positive anti-NXP2 antibody

目的探讨抗核基质蛋白2(NXP2)抗体阳性幼年特发性炎性肌病(JIIM)患者的临床表现及骨骼肌的病理特点和治疗。方法收集8例抗NXP2抗体阳性JIIM患者的临床资料, 回顾性分析其一般情况、临床表现、辅助检查、肌肉病理改变和治疗效果, 并结合国内外文献进行复习。结果 8例患者起病年龄为(6.1±3.8)岁, 男女比为1∶3;均出现四肢近端肌无力, 7例出现皮肌炎样皮疹, 5例出现肌痛, 4例出现皮肤钙质沉着, 3例出现皮肤溃烂, 2例出现皮下水肿, 1例出现腹痛症状。5例血清CK升高, 8例下肢肌肉磁共振显示肌肉, 肌肉间隙, 脂肪层异常信号, 3例胸部高分辨CT显示间质性肺炎改变, 1例腹部CT结果显示升结肠及近侧横结肠肠壁不规则增厚, 水肿, 伴周围炎性渗出。骨骼肌病理活检主要表现为束周肌萎缩, 束膜内、小血管周围及肌纤维间隙可见有炎性细胞浸润, 部分间质可见水肿、增生, 坏死、溶解及再生肌纤维少见。8例患者均给予糖皮质激素联合免疫抑制剂治疗, 1例合并肠道血管炎表现者联合使用戈利木单抗治疗, 随访6个月5例完全缓解, 3例恢复欠佳。结论抗NXP2抗体多见于幼年型皮肌炎中, 与肌无力、钙质沉着、皮肤溃疡和肠道血管炎有关, 骨骼肌病理改变相对轻微, 糖皮质激素联合免疫抑制剂治疗大部分有效。

Objective To investigate the clinical characteristics,muscle pathological features and treatment in patients with Juvenile idiopathic inflammatory myopathy(JIIM)with positive anti-nuclear matrix protein 2(NXP2)antibody.Methods The clinical data of 8 IMM patients with positive anti-NXP2 antibody were collected and the clinical manifestations,auxiliary examinations,muscle pathological changes and therapeutic effects were retrospectively analyzed.Results The ratio of male to female was 1:3.The median age of disease onset was(6.1±3.8)years.Eight cases had proximal muscle weakness,7 had dermatomyositis-like rash,5 had myalgia,4 had calcinosis,3 had skin ulcer,2 had edema and 1 had abdominal pain.Five cases had elevated serum creatine kinase.Eight cases with lower limb muscle MRI showed abnormal signals in muscle,space between muscles and fat tissue,3 cases with chest high-resolution CT(HRCT)showed interstitial lung disease.Abdominal CT of 1 case showed irregular thickening,edema and peripheral inflammatory exudation in ascending colon and proximal transverse colon.Pathological biopsy of skeletal muscle showed perifascicular atrophy,inflammatory cell infiltration in fascicular membrane and around small vessels and muscle fiber space.Edema,hyperplasia could be seen in interstitium;but dissolved necrosis,and regenerated muscle fibers were rarely seen.Treatments included glucocorticoids,immunosuppressive agents and biological agents(1 case).After 6 months of follow-up,5 cases had good outcomes and 3 cases had poor outcomes.Conclusion Dermatomyositis is the major clinical manifestation of idiopathic inflammatory myopathy with positive anti-NXP2 antibody.It is associated with myasthenia,calcinosis,skin ulcers and intestinal vasculitis.The pathological changes in skeletal muscle are relatively slightmild.Glucocorticoids combined with immunosuppressive agents are effective in most cases.