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Med. Sci. 2016, 4(4), 20; doi:10.3390/medsci4040020

Evaluation of Multiple Diagnostic Indicators in Comparison to the Intestinal Biopsy as the Golden Standard in Diagnosing Celiac Disease in Children

1
Division of Microbiology and Molecular Medicine, Department of Clinical and Experimental Medicine, Faculty of Medicine and Health Sciences, Linköping University, SE-581 85 Linköping, Sweden
2
Dynamic Code AB, SE-582 56 Linköping, Sweden
3
Division of Paediatrics, Department of Clinical and Experimental Medicine, Linköping University, SE-581 85 Linköping, Sweden
4
Department of Paediatrics and Department of Clinical and Experimental Medicine, Linköping University, SE-581 85 Linköping, Sweden
*
Author to whom correspondence should be addressed.
Academic Editor: Francesca Megiorni
Received: 29 September 2016 / Revised: 15 November 2016 / Accepted: 21 November 2016 / Published: 25 November 2016
(This article belongs to the Special Issue Genetics of Celiac Disease)
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Abstract

Celiac disease (CD) is a chronic small intestinal enteropathy triggered by gluten in genetically predisposed individuals. The susceptibility is strongly associated with certain human leukocyte antigen (HLA)-genes, but efforts are being made in trying to find non-HLA genes that are predictive for the disease. The criteria for diagnosing CD were previously based primarily on histologic evaluation of small intestinal biopsies, but nowadays are often based only on blood tests and symptoms. In this context, we elucidated the accuracy of three diagnostic indicators for CD, alone or in combination. Genetic analyses of HLA-type and nine single nucleotide polymorphisms (SNPs) known to be associated with CD were performed in 177 children previously investigated for the suspicion of CD. CD was confirmed in 109 children, while 68 were considered non-celiacs. The antibodies and urinary nitrite/nitrate concentrations of all of them were measured. The combinations of all the variables used in the study would classify 93% of the study population in the correct diagnostic group. The single best predictors were antibodies (i.e., anti-endomysium immunoglobulin A (IgA) (EMA) and transglutaminase IgA (TGA)), followed by HLA-type and nitric oxide (NO)-metabolites. The nine SNPs used did not contribute to the right diagnoses. Although our control group consisted of children with mostly gastrointestinal symptoms, the presented methodology predicted a correct classification in more than 90% of the cases. View Full-Text
Keywords: celiac disease; children; diagnosis; small bowel biopsy; nitric oxide; antibodies; genetic analyses of HLA type and SNPs celiac disease; children; diagnosis; small bowel biopsy; nitric oxide; antibodies; genetic analyses of HLA type and SNPs
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MDPI and ACS Style

Hollén, E.; Farnebäck, M.; Forslund, T.; Magnusson, K.-E.; Sundqvist, T.; Fälth-Magnusson, K. Evaluation of Multiple Diagnostic Indicators in Comparison to the Intestinal Biopsy as the Golden Standard in Diagnosing Celiac Disease in Children. Med. Sci. 2016, 4, 20.

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