de Moraes Marianna Pinheiro Moraes, do Nascimento Renan Rodrigues Neves Ribeiro, Abrantes Fabiano Ferreira, Pedroso José Luiz, Perazzio Sandro Félix, Barsottini Orlando Graziani Povoas
Department of Neurology, Universidade Federal de São Paulo, São Paulo 04039-002, Brazil.
Departament of Rheumatology, Universidade Federal de São Paulo, São Paulo 04039-050, Brazil.
Brain Sci. 2023 Sep 21;13(9):1351. doi: 10.3390/brainsci13091351.
Autoinflammatory disorders encompass a wide range of conditions with systemic and neurological symptoms, which can be acquired or inherited. These diseases are characterized by an abnormal response of the innate immune system, leading to an excessive inflammatory reaction. On the other hand, autoimmune diseases result from dysregulation of the adaptive immune response. Disease flares are characterized by systemic inflammation affecting the skin, muscles, joints, serosa, and eyes, accompanied by unexplained fever and elevated acute phase reactants. Autoinflammatory syndromes can present with various neurological manifestations, such as aseptic meningitis, meningoencephalitis, sensorineural hearing loss, and others. Early recognition of these manifestations by general neurologists can have a significant impact on the prognosis of patients. Timely and targeted therapy can prevent long-term disability by reducing chronic inflammation. This review provides an overview of recently reported neuroinflammatory phenotypes, with a specific focus on genetic factors, clinical manifestations, and treatment options. General neurologists should have a good understanding of these important diseases.
自身炎症性疾病涵盖了一系列具有全身和神经症状的病症，这些病症可以是后天获得的，也可以是遗传的。这些疾病的特征是先天免疫系统的异常反应，导致过度的炎症反应。另一方面，自身免疫性疾病是由适应性免疫反应失调引起的。疾病发作的特征是全身性炎症，影响皮肤、肌肉、关节、浆膜和眼睛，伴有不明原因的发热和急性期反应物升高。自身炎症综合征可表现出各种神经学表现，如无菌性脑膜炎、脑膜脑炎、感音神经性听力损失等。普通神经科医生对这些表现的早期识别对患者的预后有重大影响。及时且有针对性的治疗可以通过减轻慢性炎症来预防长期残疾。本综述概述了最近报道的神经炎症表型，特别关注遗传因素、临床表现和治疗选择。普通神经科医生应该对这些重要疾病有充分的了解。
