Domingos Joana, Isidoro Luís, Figueiredo Rita, Brum Marisa, Capela Carlos, Barros Pedro, Santos Ernestina, Macário Maria do Carmo, Pinto Marques José, Pedrosa Rui, Vale José, Sá Maria José
Centro Hospitalar do Porto - Hospital de Santo António, Department of Neurology, Largo Prof. Abel Salazar, 4099-001 Porto, Portugal.
Centro Hospitalar e Universitário de Coimbra, EPE, Department of Neurology, Avenida Bissaya Barreto, Praçeta Prof. Mota Pinto, 3000-075 Coimbra, Portugal.
Clin Neurol Neurosurg. 2015 Jul;134:79-84. doi: 10.1016/j.clineuro.2015.04.001. Epub 2015 Apr 11.
Neuromyelitis Optica (NMO) is an inflammatory demyelinating disease of the CNS. There have been few epidemiologic studies on NMO, none in Portugal.
To analyze the clinical, biological and MRI characteristics from a cohort of Portuguese patients who fulfilled the Wingerchuk 2006 NMO/NMOSD criteria. To identify and characterize those who had concomitant autoimmune disease or circulating autoantibodies.
We performed an observational, retrospective, multicenter study in 5 Hospital Centers in Portugal.
Sixty-seven patients fulfilled the inclusion criteria. They were mainly Caucasian, 55 female. Median age at onset was 32.0 years and mean follow-up 7.4±6.0 years. Twenty-one patients were definite NMO and optic neuritis (ON) the most frequent initial presentation. Forty-six were classified as NMO spectrum disorders. The main subtypes were recurrent ON and single longitudinally extensive transverse myelitis. Twenty-four patients had positive AQP4-IgG. Twenty-three had other circulating autoantibodies. Fifteen out of 67 patients had concomitant autoimmune disease. There was a significant correlation between the presence of autoimmune disease and the positivity for AQP4-IgG. Five patients died, all definite NMO.
This is the first study about this rare disease in Portugal. Demographic features were similar to other studies. The existence of concomitant autoimmune disease was significantly associated with seropositivity for AQP4-IgG.
视神经脊髓炎（NMO）是一种中枢神经系统炎性脱髓鞘疾病。关于NMO的流行病学研究较少，葡萄牙尚无此类研究。
分析符合2006年Wingerchuk NMO/NMOSD标准的葡萄牙患者队列的临床、生物学和MRI特征。识别并描述伴有自身免疫性疾病或循环自身抗体的患者。
我们在葡萄牙的5个医院中心进行了一项观察性、回顾性、多中心研究。
67例患者符合纳入标准。他们主要为白种人，55例为女性。发病时的中位年龄为32.0岁，平均随访7.4±6.0年。21例为确诊的NMO，视神经炎（ON）是最常见的首发表现。46例被归类为NMO谱系障碍。主要亚型为复发性ON和单发纵向广泛横贯性脊髓炎。24例患者AQP4-IgG呈阳性。23例有其他循环自身抗体。67例患者中有15例伴有自身免疫性疾病。自身免疫性疾病的存在与AQP4-IgG阳性之间存在显著相关性。5例患者死亡，均为确诊的NMO。
这是葡萄牙关于这种罕见疾病的第一项研究。人口统计学特征与其他研究相似。伴有自身免疫性疾病与AQP4-IgG血清阳性显著相关。
