Neurobiology Research, Department of Molecular Medicine, University of Southern Denmark, Odense, Denmark/Institute of Regional Health Research, University of Southern Denmark, Odense, Denmark.
Division of Molecular Neuroimmunology, Department of Neurology, Heidelberg University, Heidelberg, Germany.
Mult Scler. 2018 Mar;24(3):331-339. doi: 10.1177/1352458517699791. Epub 2017 Mar 22.
Serum immunoglobulin G targeting the astrocyte water channel aquaporin-4 (AQP4) in the central nervous system (CNS) is a biomarker for neuromyelitis optica spectrum disease (NMOSD). Co-existence of NMOSD with systemic lupus erythematosus (SLE) putatively suggests susceptibility to antibody-mediated autoimmune disease.
To estimate the prevalence of NMOSD in SLE and investigate the immunogenetic background for an association of NMOSD and SLE.
The study included a predominantly population-based cohort with clinical and serological investigations of 208 patients with SLE, followed prospectively since 1995. All patients received immunosuppressive treatment. NMOSD was evaluated retrospectively based on the 2015 International Panel for NMOSD Diagnosis (IPND) criteria. Polymorphisms in programmed cell death protein 1 (PDCD-1) PD-1.3 G/A were genotyped. AGP4-IgG and other autoantibodies, including myelin oligodendrocyte glycoprotein (MOG), was determined blinded to clinical diagnosis.
Of 208 patients with SLE, 45(22%) had neuropsychiatric (NP) SLE, and CNS involvement predominated in 30 of 45 (67%) patients. Serum AQP4-IgG was detected in 2 of 30 (6.7%) neuropsychiatric SLE (NPSLE) patients both of whom had myelitis and antiphospholipid syndrome; one patient also had myasthenia gravis. None had MOG-IgG. PD-1.3A allele was not associated with SLE nor with NPSLE.
AQP4-IgG autoimmune syndrome may rarely co-exist with SLE, and such patients have other NMOSD-typical syndromes such as myelitis.
血清免疫球蛋白 G 靶向中枢神经系统（CNS）中的星形胶质细胞水通道 aquaporin-4（AQP4）是视神经脊髓炎谱系疾病（NMOSD）的生物标志物。NMOSD 与系统性红斑狼疮（SLE）共存推测表明易患抗体介导的自身免疫性疾病。
估计 SLE 中 NMOSD 的患病率，并研究 NMOSD 和 SLE 之间关联的免疫遗传背景。
本研究包括一个主要基于人群的队列，对 208 例 SLE 患者进行了临床和血清学检查，自 1995 年以来进行了前瞻性随访。所有患者均接受免疫抑制治疗。根据 2015 年 NMOSD 国际诊断小组（IPND）标准，回顾性评估 NMOSD。对程序性细胞死亡蛋白 1（PDCD-1）PD-1.3 G/A 的多态性进行了基因分型。盲法检测血清 AQP4-IgG 及其他自身抗体，包括髓鞘少突胶质细胞糖蛋白（MOG）。
208 例 SLE 患者中，45 例（22%）有神经精神性（NP）SLE，30 例（67%）患者 CNS 受累为主。30 例神经精神性 SLE（NPSLE）患者中有 2 例（6.7%）检测到血清 AQP4-IgG，这 2 例患者均有脊髓炎和抗磷脂综合征；1 例患者还患有重症肌无力。无患者有 MOG-IgG。PD-1.3A 等位基因与 SLE 或 NPSLE 均无关。
AQP4-IgG 自身免疫综合征可能很少与 SLE 共存，且此类患者还有其他 NMOSD 典型综合征，如脊髓炎。
