Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, No. 1 Shuaifuyuan Wangfujing, Dongcheng District, Beijing, 100730, China.
Shenzhen Children's Hospital, No. 7019 Yitian Road, Futian District, Shenzhen, 518048, China.
World J Pediatr. 2022 Jul;18(7):490-497. doi: 10.1007/s12519-022-00545-1. Epub 2022 May 12.
Aicardi-Goutieres syndrome (AGS) is an inflammatory disorder belonging to the type I interferonopathy group. The clinical diagnosis of AGS is difficult, which can lead to a high mortality rate. Overall, there is a lack of large-sample research data on AGS in China. We aim to summarize the clinical characteristics of Chinese patients with AGS and provide clues for clinical diagnostic.
The genetic and clinical features of Chinese patients with AGS were collected. Real-time polymerase chain reaction was used to detect expression of interferon-stimulated genes (ISGs).
A total of 23 cases were included, consisting of 7 cases of AGS1 with three prime repair exonuclease 1 mutations, 3 of AGS2 with ribonuclease H2 subunit B (RNASEH2B) mutations, 3 of ASG3 with RNASEH2C, 1 of AGS4 with RNASEH2A mutations, 2 of AGS6 with adenosine deaminase acting on RNA 1 mutations, and 7 of AGS7 with interferon induced with helicase C domain 1 mutations. Onset before the age of 3 years occurred in 82.6%. Neurologic involvement was most common (100%), including signs of intracranial calcification which mainly distributed in the bilateral basal ganglia, leukodystrophy, dystonia, epilepsy, brain atrophy and dysphagia. Intellectual disability, language disability and motor skill impairment were also observed. Skin manifestations (60.87%) were dominated by a chilblain-like rash. Features such as microcephaly (47.62%), short stature (52.38%), liver dysfunction (42.11%), thyroid dysfunction (46.15%), positive autoimmune antibodies (66.67%), and elevated erythrocyte sedimentation rate (53.85%) were also found. The phenotypes of 2 cases fulfilled the diagnostic criteria for systemic lupus erythaematosus (SLE). One death was recorded. ISGs expression were elevated.
AGS is a systemic disease that causes sequelae and mortality. A diagnosis of AGS should be considered for patients who have an early onset of chilblain-like rash, intracranial calcification, leukodystrophy, dystonia, developmental delay, positive autoimmune antibodies, and elevated ISGs, and for those diagnosed with SLE with atypical presentation who are nonresponsive to conventional treatments. Comprehensive assessment of vital organ function and symptomatic treatment are important.
Aicardi-Goutières 综合征（AGS）是一种炎症性疾病，属于 I 型干扰素病组。AGS 的临床诊断困难，导致死亡率高。总体而言，中国关于 AGS 的大样本研究数据不足。我们旨在总结中国 AGS 患者的临床特征，并为临床诊断提供线索。
收集中国 AGS 患者的遗传和临床特征。采用实时聚合酶链反应检测干扰素刺激基因（ISGs）的表达。
共纳入 23 例患者，其中 7 例 AGS1 患者存在三引物修复外切酶 1 基因突变，3 例 AGS2 患者存在核糖核酸酶 H2 亚基 B（RNASEH2B）基因突变，3 例 AGS3 患者存在 RNASEH2C 基因突变，1 例 AGS4 患者存在 RNASEH2A 基因突变，2 例 AGS6 患者存在腺苷脱氨酶作用于 RNA1 基因突变，7 例 AGS7 患者存在干扰素诱导的解旋酶 C 结构域 1 基因突变。3 岁前发病者占 82.6%。神经系统受累最常见（100%），包括颅内钙化征象，主要分布于双侧基底节区，白质营养不良、扭转痉挛、癫痫、脑萎缩和吞咽困难。还观察到智力障碍、语言障碍和运动技能障碍。皮肤表现（60.87%）以冻疮样皮疹为主。小头颅（47.62%）、身材矮小（52.38%）、肝功能异常（42.11%）、甲状腺功能异常（46.15%）、自身免疫抗体阳性（66.67%）和红细胞沉降率升高（53.85%）等特征也很常见。2 例患者的表型符合系统性红斑狼疮（SLE）的诊断标准。记录到 1 例死亡。ISGs 表达升高。
AGS 是一种全身性疾病，可导致后遗症和死亡。对于早期出现冻疮样皮疹、颅内钙化、白质营养不良、扭转痉挛、发育迟缓、自身免疫抗体阳性、ISGs 升高，以及表现不典型、对常规治疗无反应的 SLE 患者，应考虑 AGS 诊断。全面评估重要器官功能和对症治疗很重要。
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