The Turkish Journal of Pediatrics 2014 , Vol 56 , Num 4
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
1Division of Pediatric Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, Departments of 3Medical Biology and Genetics, 4Medical Microbiology, and 5Pathology, Karadeniz Technical University, Trabzon, and 2Department of Pediatric Gastroenterology, Hepatology and Nutrition, Tepecik Training and Research Hospital, Izmir, Turkey
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. Keywords : celiac disease, intestinal biopsy, HLA-DQ typing, tissue transglutaminase, type 1 diabetes.
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