Department of Neurology, Tohoku University School of Medicine, Aoba-ku, Sendai 980-8574, Japan.
Neurology. 2010 May 11;74(19):1543-5. doi: 10.1212/WNL.0b013e3181dd445b.
Neuromyelitis optica (NMO) is a disease of the CNS characterized by severe optic neuritis and longitudinally extended transverse myelitis. Recent studies suggest that anti-aquaporin-4 (AQP4) antibodies, NMO-specific biomarkers, are pathogenic and target AQP4-expressing astrocytes in NMO, although an additional event (T-cell response or infection) should occur for anti-AQP4 antibodies and complements to pass through the blood-brain barrier and cause the CNS lesions. AQP4 is the major water channel in the CNS, but it is also expressed in fast-twitch skeletal muscle fibers. However, muscle diseases have not been described in NMO.
We retrospectively examined the serologic database of 733 cases of NMO with anti-AQP4 antibody at the Department of Neurology, Tohoku University School of Medicine. The serum samples were sent to our laboratory for testing anti-AQP4 antibody from around the country during the period from 2006 to 2009.
We found 3 anti-AQP4 antibody-positive female patients (7, 34, and 67 years old) with NMO who had episodes of prominent hyperCKemia (12,520, 19,415, and 59,660 IU/L) with general fatigue some weeks before the onset of optic neuritis. HyperCKemia was transient without any treatment in all patients, but recurred once in one of them.
These cases suggest that hyperCKemia may be involved in the pathogenesis of neuromyelitis optica (NMO) in a fraction of patients. The causes of transient hyperCKemia are unknown. Further studies are needed to know the frequency of hyperCKemia in NMO and clarify its pathogenic role.
视神经脊髓炎（NMO）是一种中枢神经系统疾病，其特征为严重的视神经炎和纵向延伸的横贯性脊髓炎。最近的研究表明，抗水通道蛋白 4（AQP4）抗体，即 NMO 特异性生物标志物，具有致病性，并靶向 NMO 中表达 AQP4 的星形胶质细胞，尽管抗 AQP4 抗体和补体要穿过血脑屏障并导致中枢神经系统病变，还应该发生另外一个事件（T 细胞反应或感染）。AQP4 是中枢神经系统中的主要水通道，但它也在快收缩骨骼肌纤维中表达。然而，在 NMO 中尚未描述肌肉疾病。
我们回顾性检查了 733 例在东北大学医学院神经内科接受抗 AQP4 抗体检测的 NMO 患者的血清数据库。这些血清样本是在 2006 年至 2009 年期间从全国各地送到我们实验室进行抗 AQP4 抗体检测的。
我们发现 3 例抗 AQP4 抗体阳性的女性 NMO 患者（年龄分别为 7、34 和 67 岁），在视神经炎发作前数周出现明显的肌酸激酶升高（12、520、19、415 和 59、660IU/L）和全身疲劳。在所有患者中，肌酸激酶升高均为一过性，无需任何治疗，但其中 1 例患者复发。
这些病例提示肌酸激酶升高可能参与了一部分 NMO 患者的发病机制。短暂性肌酸激酶升高的原因尚不清楚。需要进一步研究以了解 NMO 中肌酸激酶升高的频率，并阐明其发病机制。
