重症自身免疫性胶质纤维酸性蛋白星形胶质细胞病的临床特点及预后分析

Clinical characteristics and prognoses of severe autoimmune glial fibrillary acidic protein astrocytopathy

目的探讨重症自身免疫性胶质纤维酸性蛋白星形细胞病(GFAP-A)的临床特点及预后。方法回顾性收集广东三九脑科医院神经内科自2018年1月至2023年6月收治的12例重症GFAP-A患者的临床资料,包括一般情况、临床表现、影像学资料、实验室检查结果(如抗体检测结果等)、治疗方案及预后情况等,并对其进行分析总结。结果12例患者中男性9例、女性3例,发病年龄(46.58±17.53)岁。首发临床症状为头痛、肢体无力、肢体麻木、精神异常、癫痫发作、尿便障碍等,起病前发热9例,病情加重后出现意识障碍12例、呼吸衰竭12例、血压心率不稳6例、癫痫持续状态2例。12例患者的头颅MRI均有异常,脑干受累的10例中有7例累及延髓,另有10例软脑膜异常强化。行全脊髓MRI检查的8例患者中,7例有脊髓异常病灶,其中6例表现为全脊髓膜点线样强化。12例患者的脑脊液GFAP-IgG均为阳性,其中3例合并血清GFAP-IgG阳性。12例患者均使用糖皮质激素联合免疫球蛋白治疗,1例加用吗替麦考酚酯治疗,其中8例预后良好,4例死亡。并发症主要包括肺部感染、低蛋白血症、低钠血症、下肢深静脉血栓形成。结论重症GFAP-A患者的临床表型以脑膜脑炎、脑膜脑脊髓炎为主,延髓易受累,病情进展迅速,即使接受早期免疫治疗也仍有较高的死亡率。

Objective To explore the clinical characteristics and prognoses of severe autoimmune glial fibrillary acidic protein astrocytopathy(GFAP-A).Methods A retrospective analysis was performed.The clinical data of 12 patients with severe GFAP-A admitted to Department of Neurology,Guangdong 999 Brain Hospital from January 2018 to June 2023 were collected,including demography,clinical manifestations,MRI features,laboratory examination results(such as antibodies),treatments and prognoses.Results Among the 12 patients,9 were male and 3 were female,with an average onset age of(46.58±17.53)years.Primary symptoms included headache,limb weakness,limb numbness,mental disorder,epileptic seizure,and urinary and defecation disorder;9 patients had fever before onset.With aggravated severe GFAP-A,12 patients had impaired consciousness,12 had respiratory failure,6 had unstable blood pressure and heart rate,and 2 had status epilepticus.Cranial MRI indicated abnormal lesions in all 12 patients,including 10 with brainstem involvement(7 had involved medulla oblongata);10 showed soft meningeal enhancement.In 8 patients received MRI of the whole spinal cord,7 had abnormal spinal cord lesions;point-like enhancement of the whole spinal meninges was observed in 6 of the 7 patients.All 12 patients had positive cerebrospinal fluid GFAP-IgG,and 3 patients also had positive serum GFAP-IgG.All patients accepted glucocorticoids and immunoglobulin immunotherapy,and 1 patient was supplemented with mycophenolate mofetil;8 patients had good prognosis,and 4 patients died.Pulmonary infection,hyponatremia,hypoproteinemia,and deep vein thrombosis were the common complications.Conclusion Patients with severe GFAP-A mainly manifest as meningoencephalitis and meningoencephalomyelitis,and are likely involved medulla oblongata,enjoying rapid clinical progression;even with early immunotherapy,high mortality rate is still noted.