抗核基质蛋白2抗体阳性炎性肌病临床及病理分析

A clinicopathological analysis of inflammatory myopathy with anti-nuclear matrix protein 2 autoantibodies

摘要:

目的 探讨抗核基质蛋白2（NXP2）抗体阳性炎性肌病患者的临床表现、肌肉病理特点和治疗。方法 回顾性分析就诊于我院的4例抗NXP2抗体阳性炎性肌病患者的临床表现、肌肉病理改变和治疗方法。结果 4例患者均出现对称性四肢近端无力，2例出现皮肌炎样皮疹，3例出现吞咽困难，2例出现肢体水肿。3例血清肌酸激酶显著升高，1例正常；4例肌电图均为肌源性损害；4例下肢肌肉磁共振显示肌肉及筋膜组织水肿信号；4例血清抗NXP2抗体阳性。肌肉病理3例表现为束周萎缩，血管周围和肌束膜炎性细胞浸润；1例表现为间质水肿。4例患者均给予糖皮质激素治疗，随访3例患者好转，1例出院后意外死亡。结论 抗NXP2抗体阳性炎性肌病以皮肌炎为主要临床表现，多伴有吞咽困难和肢体水肿，肌肉磁共振显示肌肉及筋膜水肿信号；主要病理特点为束周萎缩；糖皮质激素治疗效果较好。

Abstract:

Objective To investigate the clinical manifestations, muscle pathological features, and treatment of inflammatory myopathy with anti-nuclear matrix protein 2 (NXP2) autoantibodies.Methods A retrospective analysis was performed for the clinical manifestations, muscle pathological changes, and treatment methods of four patients with inflammatory myopathy with anti-NXP2 autoantibodies who were treated in our hospital.Results Of all four patients, four had symmetrical proximal limb muscle weakness, two had dermatomyositis-like skin rash, three had dysphagia, and two had edema of extremities. Of all patients, three had a significant increase in serum creatine kinase, and one had normal serum creatine kinase; all four patients had myogenic damage on electromyography and the signal of muscular and fascial edema on muscle magnetic resonance imaging of lower extremities; all four patients had positive anti-NXP2 autoantibodies. Muscle pathology showed that three patients had perifascicular atrophy with perivascular and perimysial inflammatory cell infiltration, and one patient had interstitial edema. All four patients were treated with glucocorticoids; three patients were improved during follow-up, while one patient died accidentally after discharge.Conclusions Dermatomyositis is the main clinical manifestation of inflammatory myopathy with anti-NXP2 autoantibodies, and most patients have dysphagia and edema of extremities. Muscle magnetic resonance imaging of lower extremities shows the signal of muscular and fascial edema. Perifascicular atrophy is the main pathological feature. Glucocorticoids have a good therapeutic effect.