Department of Pediatrics, University of Perugia, Giorgio Menghini Square, 06129, Perugia, Italy.
Department of Neurology Jacksonville, University of Florida, Florida, USA.
World J Pediatr. 2023 Jul;19(7):635-643. doi: 10.1007/s12519-022-00679-2. Epub 2023 Jan 17.
Aicardi-Goutières syndrome (AGS) is a genetically determined disorder with a variable phenotype. Since the original description of AGS, advances in gene sequencing techniques have resulted in a significant broadening of the phenotypic spectrum associated with AGS genes, and new clinical pictures have emerged beyond the classic presentation. The aim of this review is to provide a comprehensive analysis of the clinical spectrum of AGS and report currently available treatments and new immunosuppressive strategies.
Literature reviews and original research articles were collected from databases, including PubMed and ClinicalTrials.gov. Relevant articles about AGS were included.
The involvement of the nervous system certainly represents the major cause of mortality and morbidity in AGS patients. However, other clinical manifestations, such as chilblains, hepatosplenomegaly, and hematological disturbances, may lead to the diagnosis and considerably impact the prognosis and overall quality of life of these patients. Therapeutic approaches of AGS are limited to interventions aimed at specific symptoms and the management of multiple comorbidities. However, advances in understanding the pathogenesis of AGS could open new and more effective therapies.
The over-activation of innate immunity due to upregulated interferon production plays a critical role in AGS, leading to multi-organ damage with the main involvement of the central nervous system. To date, there is no specific and effective treatment for AGS. New drugs specifically targeting the interferon pathway may bring new hope to AGS patients.
Aicardi-Goutières 综合征（AGS）是一种遗传决定的疾病，具有多变的表型。自 AGS 的最初描述以来，基因测序技术的进步导致与 AGS 基因相关的表型谱显著扩大，并且出现了超出经典表现的新临床图片。本综述的目的是全面分析 AGS 的临床谱，并报告目前可用的治疗方法和新的免疫抑制策略。
从包括 PubMed 和 ClinicalTrials.gov 在内的数据库中收集了文献综述和原始研究文章。纳入了有关 AGS 的相关文章。
神经系统的受累肯定是 AGS 患者死亡和发病的主要原因。然而，其他临床表现，如冻疮、肝脾肿大和血液系统紊乱，可能导致诊断，并对这些患者的预后和整体生活质量产生重大影响。AGS 的治疗方法仅限于针对特定症状的干预措施和多种合并症的管理。然而，对 AGS 发病机制的深入了解可能会开辟新的、更有效的治疗方法。
由于干扰素产生上调而导致的固有免疫过度激活在 AGS 中起着关键作用，导致多器官损伤，主要涉及中枢神经系统。迄今为止，AGS 尚无特异性和有效治疗方法。专门针对干扰素途径的新药可能为 AGS 患者带来新的希望。
