自身免疫性郎飞结病的研究进展

Research Progress on Autoimmune Nodopathies

郎飞结是指在有髓神经纤维中每两个施万细胞之间没有髓鞘的部分。它包含四个区域:结区、结旁区、近结旁区和结间区。自身免疫性郎飞结病(AN)是由朗飞结中位于结区的神经束蛋白(NF)140/186和结旁区中位于髓鞘的NF155和位于轴索的接触蛋白1(CNTN1)、接触蛋白相关蛋白1(Caspr1)的相关抗体所介导的运动感觉受累的一种周围神经病,其结旁区抗体阳性在慢性炎症性脱髓鞘性多发性神经根神经病(CIDP)的检测中多见。然而AN的临床表现与CIDP相似,但病理特征和治疗反应存在不同,故具有独特的诊断和治疗价值。目前针对AN患者治疗方式是以糖皮质激素、血浆置换和静脉注射用人免疫球蛋白(IVIg)治疗为主,但IgG4亚型的AN患者对免疫球蛋白治疗欠佳,另外利妥昔单抗、艾加莫德等靶向生物制剂也显示出了一定的疗效。本综述重点研究AN的临床表现及治疗进展。

The node of Ranvier is the portion of a myelinated nerve fiber that is not myelinated between every two Schwann cells in a myelinated nerve fiber.It contains four regions:the junctional,parajunctional,subparajunctional,and interjunctional regions.Autoimmune nodopathy(AN)is a peripheral neuropathy with motor-sensory involvement mediated by antibodies related to neurofascin(NF)140/186 in the junctional region of the node of Ranvier,NF155 located in the myelin sheath in the parajunctional region of the node,contactin-1(CNTN1)and contactin-associated protein-1(Caspr1)located in the axon.AN is similar to CIDP in clinical manifestations,but there are differences in pathologic features and therapeutic responses,thus providing unique diagnostic and therapeutic value.Currently,glucocorticoids,plasma exchange and intravenous immunoglobulin(IVIG)are the mainstays of treatment for patients with AN,but patients with IgG4 subtypes of AN are poorly treated with immunoglobulin,and targeted biologics,such as Eculizumab and Bortezomib,have also shown some efficacy.This review focuses on the clinical manifestations as well as therapeutic advances in AN.