摘要
目的:探讨干扰素基因刺激蛋白(STING)相关婴儿期发病血管病变(SAVI)的临床特点、诊断和治疗。方法:对1例SAVI患儿的临床表型及基因型进行分析,并通过复习相关文献,分析和总结有关国内外SAVI的文献报道,总结SAVI的临床特征及遗传学特点。结果:男,11岁4个月,为反复呼吸道感染、咳嗽、活动耐力下降,查体可见杵状指(趾),实验室检查提示ESR异常升高、ANA及抗心磷脂抗体阳性,肺部高分辨CT提示间质性病变。全外显子测序提示患儿TMEM173基因新生杂合突变:c.463G>A,p.V155M。予托法替尼(每次5 mg,每天2次)治疗有效。文献复习目前国内外已报道SAVI病例31例(包括本文1例),SAVI男性多发,以婴幼儿为主。首发症状以皮疹(58.0%)、呼吸急促(41.9%)及活动受限(48.3%)为主。实验室检查64.5%伴有ESR增快或CRP升高,64.5%出现自身抗体阳性。70.9%患儿肺部影像学提示为间质性肺炎改变。基因检查可明确诊断,SAVI相关的基因突变位于第5号染色体上的TMEM173基因,74.1%为新发突变。Janus激酶抑制剂治疗有效。结论:SAVI为一种罕见的自身炎症性疾病,为TMEM173基因变异,临床上以活动耐力下降、生长受限及间质性肺疾病为主要表现。Janus激酶抑制剂对该病治疗有效。
Objective:To summarize the clinical characteristics of a boy with Stimulator of interferon genes(STING)-associated vasculopathy with onset in infancy(SAVI).Methods:The clinical characteristics of a child with SAVI from Qilu Children's Hospital of Shandong University were collected.A literature search(search terms including'STING-associated vasculopathy with onset in infancy'、'STING'、'SAVI'、'autoinflammatory diseases'、and'interferonopathy')was conducted using CNKI、WanFang Data、VIP and EMBASE、PubMed to include recently published SAVI studies(from January 2010 to April 2018).Results:A 11-year-old boy,often suffering from recurrent respiratory tract infection(RRTI),presented with coughing,decreased activity endurance and clubbed fingers.His erythrocyte sedimentation rate(ESR)was abnormally elevated.ANA and anticardiolipin antibody were positive,and the High-resolution computed tomography(HRCT)revealed interstitial lung diseases.Genetic mutation of TMEM173(c.463G>A,p.V155M)was confirmed by Sanger sequencing.It was effectively treated with toltinib 5 mg twice a day.At present,30 cases of SAVI have been reported at home and abroad,including 1 in Chinese and 13 in English.SAVI is more common in males,mainly in infants and young children.The first symptoms were rash(58.0%),shortness of breath(41.9%)and limited activity(48.3%).Laboratory tests were often accompanied by elevated inflammatory markers and positive anti-nuclear antibodies.70.9%of the pulmonary imaging showed interstitial pneumonia.SLE is easily misdiagnosed in clinic and can be diagnosed by gene examination.JAK inhibitors are effective.Conclusion:SAVI is a rare autoinflammatory disease,which is a TMEM173 gene mutation.It is clinically characterized by decreased activity tolerance,growth restriction and interstitial lung disease.Janus kinase inhibitor(JAK)is effective in treating this disease.
作者
张岩
闫秀丽
孟晨
宋桂华
王玲玲
ZHANG Yan;YAN Xiu-li;MENG Chen;SONG Gui-hua;WANG Ling-ling(Department of Pediatrics,The First Affiliated Hospital of Henan University of CM,Zhengzhou 450000,China;Department of Pulmonary Intervention,Jinan Children's Hospital,Jinan 250022,China)
出处
《中国循证儿科杂志》
CSCD
北大核心
2019年第3期196-200,共5页
Chinese Journal of Evidence Based Pediatrics
基金
河南省特色学科中医学科建设项目:STS-ZYX2017012
关键词
STING相关婴儿期发病血管病变
临床特征
文献分析
STING-associated vasculopathy with onset in infancy
clinical characteristics
Literature analysis
