title: 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.
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.
authors.affiliation: Division of Pediatric Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, Karadeniz Technical University, Trabzon, Turkey. muratcak@hotmail.com.
authors.forename: Murat
authors.initials: M
authors.lastname: Çakır
authors.forename: Maşallah
authors.initials: M
authors.lastname: Baran
authors.forename: Fahri
authors.initials: F
authors.lastname: Uçar
authors.forename: Ulaş Emre
authors.initials: UE
authors.lastname: Akbulut
authors.forename: Neşe
authors.initials: N
authors.lastname: Kaklıkkaya
authors.forename: Şafak
authors.initials: Ş
authors.lastname: Ersöz
mesh_terms: D000293:Adolescent; D000888:Antibodies, Anti-Idiotypic / Q000276:immunology*; D001323:Autoantibodies; D001706:Biopsy; D002446:Celiac Disease / Q000175:diagnosis* / Q000453:epidemiology / Q000276:immunology; D002648:Child; D002675:Child, Preschool; D005260:Female; D019204:GTP-Binding Proteins / Q000097:blood / Q000276:immunology*; D005838:Genotype; D006683:HLA-DQ Antigens / Q000235:genetics*; D006801:Humans; D007070:Immunoglobulin A / Q000097:blood / Q000276:immunology*; D008297:Male; D015995:Prevalence; D000091345:Protein Glutamine gamma Glutamyltransferase 2; D011503:Transglutaminases / Q000097:blood / Q000276:immunology*; D014421:Turkey / Q000453:epidemiology
chemical_list: D000888:Antibodies, Anti-Idiotypic; D001323:Autoantibodies; D006683:HLA-DQ Antigens; D007070:Immunoglobulin A; C049937:anti-IgA; D000091345:Protein Glutamine gamma Glutamyltransferase 2; D011503:Transglutaminases; D019204:GTP-Binding Proteins