Jo-1综合征的临床及骨骼肌病理特点

Clinical and myopathological features of Jo-1 syndrome

目的 报道16例Jo-1综合征患者的临床和骨骼肌病理改变特点.方法 本研究选取2011年1月至2015年7月于北京大学第一医院神经内科诊断为Jo-1综合征的16例患者,对其临床资料及肌肉病理资料进行分析.结果 16例患者的平均起病年龄为41±14（21 ～68）岁,女性占87.5％,病程中位数为9.5（1 ～192）个月.主要临床表现包括13例肌无力（81.2％）、10例关节炎（62.5％）、8例间质性肺病（50％）、5例皮肌炎样皮疹（31.2％）、3例发热（18.8％）、2例雷诺现象（12.5％）、2例技工手（12.5％）,3例合并其他结缔组织病和1例合并非霍奇金淋巴瘤.血清平均CK为3 054±2 058（470 ～5 222）U/L.所有患者抗Jo-1抗体阳性,合并出现的抗体包括1例抗Mi-2抗体、5例抗Ro-52抗体、5例抗核抗体.4/5例患者行肌电图检查呈肌源性损害特点.肌肉病理表现包括14例（87.5％）肌束衣水肿、断裂、炎细胞浸润.13例萎缩肌纤维,其中7例（43.8％）主要位于束周区域.8例肌纤维坏死,其中4例（25％）主要位于束周区域.11例出现再生肌纤维,其中5例（31.2％）主要位于束周区域.CD8阳性的T-淋巴细胞、CD20阳性的B-淋巴细胞、CD68阳性的巨噬细胞不同程度浸润,多数位于肌束衣.MHC-Ⅰ在肌纤维膜不同程度表达,其中7例（43.8％）束周肌纤维胞质阳性表达.7例（43.8％）束周肌纤维膜补体沉积,2例（12.5％）束周毛细血管补体沉积.结论 本组Jo-1综合征患者的主要表现是肌无力、关节炎和间质性肺病,可以合并皮肌炎样皮疹、发热、雷诺现象、技工手.肌束衣水肿、断裂伴随炎细胞浸润常见.部分患者可出现束周肌纤维病变.

Objective To report the clinical and myopathological features of 16 patients with Jo-1 syndrome.Methods Sixteen patients were recruited in this study,who were diagnosed as Jo-1 syndrome in Department of Neurology of Peking University First Hospital from January,2011 to July,2015.The clinical data and myopathological data were analyzed.Results The mean onset age was 41-± 14 （21-68） years old.87.5% was female.The median duration was 9.5 months （1-192 months）.The main clinical manifestations were weakness in 13 cases （81.2%）,arthritis in 10 cases （62.5%）,interstitial lung diseases in 8 cases （50%）,dermatomyositis-like skin lesions in 5 cases （31.2%）,fever in 3 cases （18.8%）,Raynaud＇s phenomenon in 2 cases （12.5%） and mechanic＇s hands in 2 cases （12.5%）.There were 3 cases with other connective tissue diseases and 1 case with non-Hodgkin＇s lymphoma.Mean serum CK was 3 054 ± 2 058 （470-5 222） U/L.All patients had anti-Jo-1 antibody,combined with anti Mi-2 antibody in 1 case,anti-Ro-52 antibody in 5 cases,and anti-nuclear antibody in 5 cases.4/5 cases showed myopathic changes for electromyography （EMG） tests.Myopathological changes included edema,fragmentation and inflammatory infiltration in perimysium in 14 cases （87.5%）,muscle atrophy in 13 cases including 7 cases（43.8%） predominantly in perifascicular field.Muscle fiber necrosis appeared in 8 cases with predominantly in perifascicular area in 4 cases （25%）.Muscle fiber regeneration occurred in 11 cases with predominantly in perifascicular field in 5 cases （31.2%）.CD8 positive T-lymphocytes,CD20 positive B-lymphocytes and CD68 positive macrophages infiltrated in various degrees,most of which were located in perimysium.MHC-Ⅰ were expressed on muscle fiber membranes in different degrees,including 7 cases （43.8%） predominantly in the cytoplasm of perifascicular muscle fibers.C5b-9 deposited in perifascicular muscle fiber membranes in 7 cases （43.8%） and perifascicular capillaries in 2 cases （12.5%）.Conclusions The main manifestations of this group of Jo-1 syndrome are weakness,arthritis and interstitial lung diseases,and dermatomyositis-like skin lesions,fever,Raynaud＇s phenomenon,and mechanic＇s hands can also be seen.Edema,fragmentation and inflammatory infiltration in perimysium are common.Pathological changes in perifascicular fields appear in some cases.