Aicardi-Goutieres综合征(AGS)是一种属于I型干扰素病组的炎症性疾病。AGS的临床诊断比较困难,这可能导致高死亡率。总的来说,中国缺乏AGS的大样本研究数据。我们旨在总结中国AGS患者的临床特征,为临床诊断提供线索。
收集中国AGS患者的遗传和临床特征。实时聚合酶链反应用于检测干扰素刺激基因(ISG)的表达。
共纳入23例,由7例AGS1与三个主要修复外切核酸酶1突变组成,3具有核糖核酸酶H2亚基B(RNASEH2B)突变的AGS2,3的ASG3与RNASEH2C,1个带有RNASEH2A突变的AGS4,2的AGS6与腺苷脱氨酶作用于RNA1突变,和7的AGS7与干扰素诱导的解旋酶C结构域1突变。3岁前发病占82.6%。神经系统受累最常见(100%),颅内钙化征象主要分布于双侧基底节区,脑白质营养不良,肌张力障碍,癫痫,脑萎缩和吞咽困难.智力残疾,还观察到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。小头畸形(47.62%)等特征,身材矮小(52.38%),肝功能障碍(42.11%),甲状腺功能异常(46.15%),自身免疫抗体阳性(66.67%),红细胞沉降率升高(53.85%)。2例表型符合系统性红斑狼疮(SLE)诊断标准。记录了一个死亡。ISGs表达升高。
AGS是一种引起后遗症和死亡的全身性疾病。对于早发性冻疮样皮疹的患者,应考虑AGS的诊断,颅内钙化,脑白质营养不良,肌张力障碍,发育迟缓,自身免疫抗体阳性,和提升的ISG,以及对常规治疗无反应的诊断为不典型表现的SLE患者。重要器官功能的综合评估和对症治疗很重要。
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.