乳糜泻易感基因及血清特异性自身抗体在有相关症状儿童中的检出情况  

Detection of celiac disease susceptive genes and serum-specific autoantibodies in children with related symptoms

作　　者：周博[1] 赵兴[2] 付佳琳 郭晓临[1] ZHOU Bo;ZHAO Xing;FU Jialin;GUO Xiaolin(Department of Clinical Laboratory,The First Hospital,China Medical University,Shenyang 110001,China;Department of Pediatrics,The First Hospital,China Medical University,Shenyang 110001,China)

机构地区：[1]中国医科大学附属第一医院检验科,沈阳110001 [2]中国医科大学附属第一医院儿科,沈阳110001

出　　处：《中国医科大学学报》2020年第1期67-70,75,共5页Journal of China Medical University

摘　　要：目的探讨乳糜泻(CD)相关易感基因HLA-DQ2和HLA-DQ8与血清特异性自身抗体在有相关症状儿童中的检出情况,筛查疑似病例。方法收集152例有CD相关症状的患儿(症状组)和26例健康或无症状的儿童(对照组),检测HLA-DQ2和HLA-DQ8的检出情况,并检测血清自身抗体抗肌内膜抗体、抗组织型转谷氨酰胺酶抗体和抗麦胶蛋白抗体。分析易感基因与自身抗体的检出情况,筛选疑似病例。结果症状组检出44例(28.95%)易感基因阳性,对照组检出5例(19.23%)(P=0.3524)。3类自身抗体同时检测时,在症状组中总检出率为17.76%,而在对照组中为0%,2组间的差异有统计学意义(P=0.0158)。症状组中7例患儿易感基因与自身抗体同时阳性,疑似CD。结论本研究纳入的儿童有一定的CD遗传易感性,联合检测易感基因和血清特异性自身抗体,有助于在有CD相关症状的患儿中检出疑似病例,提高临床对该病的认识。Objective To determine the prevalence of suspected celiac disease(CD)among children who display symptoms related to CD by detecting susceptive genes and serum-specific autoantibodies.Methods A total of 152 children who had one or more symptoms of CD(symptom group)and 26 healthy children or those without symptoms related to CD were included in this study.The prevalence of HLA-DQ2 and HLA-DQ8 and specific auto antibodies,including anti-endomysium antibody,anti-tissue transglutaminase antibody,and anti-gliadin antibody,in the serum of the subjects was determined using DNA micro-arrays,enzyme-linked immunosorbent assays,and indirect immunofluorescence.Differences in the prevalence of genes and antibodies between both groups were subsequently identified to screen for suspected cases.Results In the symptom group,44 children(28.95%)were HLA-DQ2/HLA-DQ8-positive,whereas only 5(19.23%)in the control group were positive(P=0.3524).The overall prevalence of the three antibody types was 17.76%in the symptom group and 0%in the control group,and the difference was significantly between groups(P=0.0158).In the symptom group,seven of the children HLA-DQ2/-DQ8-positive also simultaneously had one or more types of autoantibodies.These children were defined as suspected CD cases.Conclusion The children studied have certain genetic susceptibility.The simultaneous detection of the HLA-DQ2/HLA-DQ8 gene and serum-specific autoantibodies can help differentiate suspected CD cases from those which have one or more CD symptoms,and improve clinical understanding of the disease.

关 键 词：乳糜泻 自身免疫 HLA-DQ基因 症状 儿童 

分 类 号：R446.6[医药卫生—诊断学]