COPA综合征1例临床特征及基因测序分析  

Clinical and genetic analysis of COPA syndrome in one case

作　　者：何庭艳[1] 齐中香[1] 罗书立[1] 夏宇[1] 李成荣[1] 黄瑛[1] 杨军[1] HE Tingyan;QI Zhongxiang;LUO Shuli;XIA Yu;LI Chengrong;HUANG Ying;YANG Jun(Department of Rheumotology and Immunology.Shenzhen Children’s Hospital,Shenzhen 518038,Guangdong,China)

机构地区：[1]深圳市儿童医院风湿免疫科,广东深圳518038

出　　处：《临床儿科杂志》2018年第10期787-790,共4页Journal of Clinical Pediatrics

基　　金：深圳市科技创新项目(No.JCYJ 20160429174400950;No.JCY 20170303155201082);深圳市卫计委项目(No.SZSM 20182002);深圳市三名工程项目(No.SZSM 201812002)

摘　　要：目的探讨COPA综合征的临床特征、免疫学及基因变异特点。方法回顾分析2017年7月收治的1例COPA综合征患儿的临床资料。结果患儿,女,10岁3个月,因精神差、水肿入院。收缩压/舒张压:170/98 mmHg,全身皮肤及口唇稍苍白,四肢皮肤散在大块青紫色瘀斑,颜面及双下肢呈明显非凹陷性水肿,腹膨隆,移动性浊音阳性。尿常规示尿蛋白(+++)、潜血(+++);类风湿因子36 IU/mL、抗核抗体1:1 000、抗双链DNA抗体812 IU/mL,抗Sm抗体阴性。肺部CT示左下肺病变,少量胸腔积液及心包积液;踝关节磁共振成像示左踝关节、左足小关节积液及局部滑膜增厚;肾脏病理示肾小球系膜细胞中-重度弥漫性增生,伴内皮细胞增生,球性、毛细血管襻及系膜区IgG沉积;基因序列分析示外周血细胞存在COPα基因c.433C>T、p.P145S杂合变异;流式细胞术检测示Th17细胞比例为6.3%。结论 COPA综合征主要临床特征包括肺部病变、关节炎、肾脏损害及自身抗体阳性,Th17细胞数量显著增多;COPα基因有致病性变异。Objective To investigate clinical features,immunologic and genetic characteristics of COPA syndrome.Method Characteristics of clinical materials,immunological data and gene mutation of the first case in China with COPαgene mutation were retrospectively analyzed.Result A 10-year-3-month old girl was admitted due to mental deterioration for half a month and edema for six days.She looked a little pale.The blood pressure was 170/98 mmHg.There were scattered bluish purple ecchymosis in her extremities and obvious edema in her face and lower limbs.Abdominal distension and positive mobile dullness were found.Urinary analysis revealed of positive urine protein and red blood cells.Rheumatoid factor,antinuclear antibody and anti-double-stranded DNA antibody were positive.Anti-Sm antibody was negative.CT images showed lesions of left lower lung lobe and a small amount of pleural and pericardial effusion.MRI revealed of effusion and partial synovial thickening of left ankle and foot joints.Renal pathology showed moderate-to-severe diffuse hyperplasia of glomerular mesangial cells with endothelial cell hyperplasia.IgG deposited at glomus,capillary loops,and mesangial area.The gene sequencing results showed COPαgene c.433C>T,p.P145S heterozygous mutation.Flow cytometry detection deployed a significantly increased Th17 cell ratio(6.3%).Conclusions The main clinical features of COPA syndrome include lung lesions,arthritis,renal damage and positive autoantibodies.Th17 cell ratio is significantly increased.Gene sequencing analysis shows pathogenic variation of COPαgene.

关 键 词：系统性红斑狼疮 遗传性疾病 COPA综合征 TH17细胞 

分 类 号：R725.9[医药卫生—儿科]