34例小儿自身免疫性胶质纤维酸性蛋白星形胶质细胞病的临床特征分析

Clinical features of autoimmune glial fibrillary acidic protein astrocytopathy in children: an analysis of 34 cases

摘要:

目的 分析自身免疫性胶质纤维酸性蛋白星形胶质细胞病（glial fibrillary acidic protein astrocytopathy，GFAP-A）患儿的临床特征。方法 回顾性收集2020年1月—2022年2月于重庆医科大学附属儿童医院神经内科就诊的34例GFAP-A患儿的临床资料，对其临床表现、脑脊液特点、影像学检查、治疗及预后进行分析。结果 34例GFAP-A患儿中位起病年龄为8.4（范围：1.9~14.9）岁。患儿主要表现为头痛（50%，17/34）、发热（47%，16/34）、视力障碍（47%，16/34）、意识障碍（44%，15/34）等。56%（19/34）患儿脑脊液检查结果异常，其中8例合并其他自身抗体阳性。重叠综合征患儿的复发率及免疫抑制剂使用率高于非重叠综合征患儿（P<0.05）。77%（24/31）患儿对免疫治疗反应好，仅1例预后不良。结论 GFAP-A患儿临床症状无特异性，对免疫治疗反应好。其出现重叠综合征时易复发，早期应用免疫抑制剂可能预防复发和缓解疾病症状。

Abstract:

Objective To study the clinical features of children with autoimmune glial fibrillary acidic protein astrocytopathy (GFAP-A).Methods A retrospective analysis was performed on the medical data of 34 children with GFAP-A who attended the Department of Neurology, Children's Hospital of Chongqing Medical University, from January 2020 to February 2022. The medical data included clinical manifestations, cerebrospinal fluid features, imaging examination results, treatment, and prognosis.Results The median age of onset was 8.4 (range 1.9-14.9) years for the 34 children with GFAP-A. The main clinical manifestations included headache (50%, 17/34), fever (47%, 16/34), visual impairment (47%, 16/34), and disturbance of consciousness (44%, 15/34). Abnormal cerebrospinal fluid results were observed in 19 children (56%, 19/34), among whom 8 children had positive autoantibody. The children with overlap syndrome had significantly higher recurrence rate and rate of use of immunosuppressant than those without overlap syndrome (P<0.05). About 77% (24/31) of the children had good response to immunotherapy, and only 1 child had poor prognosis.Conclusions Children with GFAP-A often have non-specific clinical symptoms and show good response to immunotherapy. Children with overlap syndrome have a high recurrence rate, and early application of immunosuppressants may help to prevent recurrence and alleviate symptoms.