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土耳其儿童中 HLA-DQ 基因分型联合 IgA 抗组织转谷氨酰胺酶血清学及“评分系统”用于诊断乳糜泻的准确性

Accuracy of HLA-DQ genotyping in combination with IgA anti-tissue transglutaminase serology and a "scoring system" for the diagnosis of celiac disease in Turkish children.

作者信息

Çakır Murat, Baran Maşallah, Uçar Fahri, Akbulut Ulaş Emre, Kaklıkkaya Neşe, Ersöz Şafak

机构信息

Division of Pediatric Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, Karadeniz Technical University, Trabzon, Turkey.

出版信息

Turk J Pediatr. 2014 Jul-Aug;56(4):347-53.

PMID:25818952
Abstract

The aim of the study was to analyze the accuracy of (i) HLA-DQ typing and anti-tissue transglutaminase antibodies immunoglobulin A (tTG-IgA) serology and (ii) a "simple scoring system" (SSS) for the diagnosis of celiac disease (CD). The study included 91 patients with positive tTG-IgA, who had been tested for HLA-DQ. Patients were divided into 3 groups: typical CD, atypical CD, and non-CD. The sensitivity, specificity, positive (PPV) and negative predictive value (NPV), positive (PLR) and negative likelihood ratio (NLR) and accuracy of the test combining genotyping and tTG-IgA positivity and the simple scoring system for the diagnosis of CD were evaluated. The combination of genotyping and strong tTG-IgA positivity had a sensitivity of 93.5%, specificity of 61.5%, PPV of 93.5%, NPV of 61.5%, PLR of 2.4, NLR of 0.1 and accuracy of 89% for "CD." SSS had a higher specificity (84.6%), higher PPV (97.3%), higher NPV (68.7%), higher PLR and higher accuracy (92.3%). The combination of genotyping and strong tTG-IgA positivity missed two patients with typical CD (4%) and three patients with atypical CD (10.7%). Two cases with malabsorptive symptoms (33.3%) and three patients without malabsorptive symptoms (42.8%) would have been misdiagnosed as CD if these tests were used. Intestinal biopsy is still mandatory for diagnosis of CD in Turkish children.

摘要

该研究的目的是分析(i)人类白细胞抗原-DQ(HLA-DQ)分型和抗组织转谷氨酰胺酶抗体免疫球蛋白A(tTG-IgA)血清学以及(ii)一种“简易评分系统”(SSS)用于诊断乳糜泻(CD)的准确性。该研究纳入了91例tTG-IgA呈阳性且已进行HLA-DQ检测的患者。患者被分为3组:典型CD、非典型CD和非CD。评估了将基因分型与tTG-IgA阳性以及简易评分系统相结合用于诊断CD的检测的敏感性、特异性、阳性预测值(PPV)和阴性预测值(NPV)、阳性似然比(PLR)和阴性似然比(NLR)以及准确性。基因分型与强tTG-IgA阳性相结合对“CD”的敏感性为93.5%,特异性为61.5%,PPV为93.5%,NPV为61.5%,PLR为2.4,NLR为0.1,准确性为89%。SSS具有更高的特异性(84.6%)、更高的PPV(97.3%)、更高的NPV(68.7%)、更高的PLR和更高的准确性(92.3%)。基因分型与强tTG-IgA阳性相结合漏诊了2例典型CD患者(4%)和3例非典型CD患者(10.7%)。如果使用这些检测方法,2例有吸收不良症状的患者(33.3%)和3例无吸收不良症状的患者(42.8%)会被误诊为CD。在土耳其儿童中,肠道活检对于CD的诊断仍然是必需的。

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