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.
Highlights
Celiac disease (CD) is a chronic small intestinal enteropathy which is immune-mediated and triggered by ingestion of dietary gluten in genetically predisposed individuals [1]
Letters containing information on the study, together with materials to perform sampling of buccal epithelial cells were sent out to 196 children who had been investigated for the suspicion of CD at three paediatric clinics in southeast Sweden between 1996 and 2007, and who were diagnosed according to the old criteria [13], where biopsies were taken under anaesthesia with a capsule and graduated [12] according to established criteria by the pathologist
We aimed at retrospectively assessing—in a child population that was previously diagnosed based on the classical criteria—the diagnostic accuracy of the serology; i.e., of AGA, endomysium IgA (EMA), and transglutaminase IgA (TGA) antibodies, human leukocyte antigen (HLA)‐typing, and of two non‐invasive methods
Summary
Celiac disease (CD) is a chronic small intestinal enteropathy which is immune-mediated and triggered by ingestion of dietary gluten in genetically predisposed individuals [1]. It is one of the most common chronic diseases in childhood, with a prevalence ranging between 1% [2] and 3% [3]. CD often presents itself during early childhood, lately with a trend towards a delayed onset at six or seven years of age [4], and is characterised by a variety of clinical symptoms, specific serum antibody responses, and a spectrum of damages and immunological aberrations to the small intestinal mucosa.
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