Lubarski Karol, Mania Anna, Michalak Sławomir, Osztynowicz Krystyna, Mazur-Melewska Katarzyna, Figlerowicz Magdalena
Department of Infectious Diseases and Child Neurology, Poznan University of Medical Sciences, 27/33 Szpitalna St., 60-572 Poznan, Poland.
Department of Neurology, Division of Neurochemistry and Neuropathology, Poznan University of Medical Sciences, 49 Przybyszewskiego St., 60-355 Poznan, Poland.
Diagnostics (Basel). 2023 Mar 28;13(7):1274. doi: 10.3390/diagnostics13071274.
Various primarily non-autoimmune neurological disorders occur synchronously with autoantibodies against tissues in the nervous system. We aimed to assess serum and cerebrospinal fluid (CSF) autoantibodies in children with neurologic disorders. To find new diagnostic tools, we compared the laboratory and clinical findings between the distinguished groups. Retrospectively, 508 patients were divided into six subgroups: neuroinfections, pediatric autoimmune neuropsychiatric disorders associated with streptococcal infections, neurologic autoimmune and demyelinating diseases, epilepsy, pervasive developmental disorders and other patients. We analysed serum anti-aquaporin-4, antiganglioside, neuronal antinuclear and cytoplasmic antibodies, as well as antibodies against surface neuronal and synaptic antigens in the CSF and serum. We involved available demographic and clinical data. Autoantibodies appeared in 165 (32.3%) children, with 24 showing multiple types of them. The most common were anti-neuroendothelium (anti-NET), anti-N-Methyl-D-Aspartate receptor (anti-NMDAr), anti-glial fibrillary acidic protein and anti-myelin antibodies bothering 46/463 (9.9%), 32/343 (9.4%), 27/463 (5.8%) and 27/463 (5.8%), respectively. Anti-NET and anti-NMDAr antibodies appeared more frequently in children with autoimmunity ( = 0.017; < 0.001, respectively), increasing the autoimmune disease risk (OR = 2.18, 95% CI 1.13-13.97; OR = 3.91, 95% CI 1.86-8.22, respectively). Similar pathomechanisms appeared in diseases of different aetiology with clinical spectrums mimicking each other, so we proposed the model helping to diagnose autoimmune disease. We proved the influence of age, living place and medical history on the final diagnosis.
多种主要非自身免疫性神经系统疾病与针对神经系统组织的自身抗体同时出现。我们旨在评估患有神经系统疾病儿童的血清和脑脊液(CSF)自身抗体。为了找到新的诊断工具,我们比较了不同组别的实验室检查和临床发现。回顾性地,508例患者被分为六个亚组:神经感染、与链球菌感染相关的儿童自身免疫性神经精神疾病、神经自身免疫性和脱髓鞘疾病、癫痫、广泛性发育障碍以及其他患者。我们分析了血清抗水通道蛋白4、抗神经节苷脂、神经元抗核和细胞质抗体,以及脑脊液和血清中针对表面神经元和突触抗原的抗体。我们纳入了可用的人口统计学和临床数据。165名(32.3%)儿童出现了自身抗体,其中24名显示出多种类型。最常见的是抗神经内皮(抗NET)、抗N-甲基-D-天冬氨酸受体(抗NMDAr)、抗胶质纤维酸性蛋白和抗髓鞘抗体,分别影响46/463(9.9%)、32/343(9.4%)、27/463(5.8%)和27/463(5.8%)。抗NET和抗NMDAr抗体在自身免疫性儿童中出现得更频繁(分别为P = 0.017;P < 0.001),增加了自身免疫性疾病风险(分别为OR = 2.18,95% CI 1.13 - 13.97;OR = 3.91,95% CI 1.86 - 8.22)。不同病因的疾病出现了相似的发病机制,临床谱相互模仿,因此我们提出了有助于诊断自身免疫性疾病的模型。我们证明了年龄、居住地点和病史对最终诊断的影响。