| 1. |
- Browaldh, Lars, et al.
(author)
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Celiaki är en vanlig sjukdom som är lätt att missa
- 2014
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In: Läkartidningen. - : Swedish Medical Association. - 0023-7205 .- 1652-7518. ; 111:11, s. 484-488
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Journal article (peer-reviewed)abstract
- Celiaki ansågs länge som en ovanlig barnsjukdom, men är en vanlig sjukdom som drabbar alla åldrar. Genomförda screeningar av normalbefolkningen visar att merparten inte fått diagnos eller behandling. Den kliniska bilden varierar: alltifrån diffusa besvär eller inga symtom alls till allvarliga gastrointestinala symtom med grav avmagring och tillväxtrubbning till följd av malabsorption. Klinisk misstanke om eller hereditet för celiaki bör föranleda analys av specifika serologiska markörer. Gastroskopi med tunntarmsbiopsi bör övervägas för att bekräfta eller utesluta diagnosen.
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| 2. |
- Olen, Ola, et al.
(author)
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Antibodies Against Deamidated Gliadin Peptides and Tissue Transglutaminase for Diagnosis of Pediatric Celiac Disease - Diagnostic Performance and Cost in Clinical Practice.
- 2012
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In: Journal of pediatric gastroenterology and nutrition. - 1536-4801. ; 55:6, s. 695-700
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Journal article (peer-reviewed)abstract
- OBJECTIVES:: To evaluate diagnostic performance and actual costs in clinical practice of IgG/IgA deamidated gliadin peptide antibodies (DGP) as a complement to IgA antibodies against tissue transglutaminase (tTG) for the diagnosis of pediatric celiac disease (CD). PATIENTS AND METHODS:: All consecutive patients <18 years tested for tTG and/or DGP and who underwent duodenal biopsy because of suspected CD in Stockholm and Gothenburg, Sweden, 2008-2010 were included. Medical records were reviewed. RESULTS:: Of 537 children who underwent duodenal biopsy, 278(52%) had CD. 71(13%) were <2 years and 13(4%) had IgA deficiency. Sensitivity and specificity for tTG was 94% and 86% respectively. Corresponding values for DGP was 91% and 26%. Positive predictive values (PPV) were 88% for tTG and 51% for DGP. There were 148 children who were tTG negative and DGP positive, of which only 5%(8/148) had villous atrophy. Among children <2 years with normal IgA, PPV was 96%(25/26) for tTG and 48%(24/50) for DGP. In 13 IgA deficient children 9 were DGP positive of which 4 had CD (PPV 44%). 8/278 cases of CD would possibly have been missed without DGP. The cost of adding DGP and consequently more biopsies to be able to detect 8 extra cases of CD was &OV0556;399,520 or &OV0556;49,940 per case. CONCLUSION:: For diagnosing CD, tTG is superior to DGP, even in children <2 years. Combining tTG and DGP does not provide a better trade off between number of missed cases of CD, number of unnecessary duodenal biopsies and cost than tTG alone.
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| 3. |
- Östensson, Malin, 1984, et al.
(author)
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A Possible Mechanism behind Autoimmune Disorders Discovered By Genome-Wide Linkage and Association Analysis in Celiac Disease
- 2013
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In: PLoS ONE. - : Public Library of Science (PLoS). - 1932-6203. ; 8:8
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Journal article (peer-reviewed)abstract
- Celiac disease is a common autoimmune disorder characterized by an intestinal inflammation triggered by gluten, a storage protein found in wheat, rye and barley. Similar to other autoimmune diseases such as type 1 diabetes, psoriasis and rheumatoid arthritis, celiac disease is the result of an immune response to self-antigens leading to tissue destruction and production of autoantibodies. Common diseases like celiac disease have a complex pattern of inheritance with inputs from both environmental as well as additive and non-additive genetic factors. In the past few years, Genome Wide Association Studies (GWAS) have been successful in finding genetic risk variants behind many common diseases and traits. To complement and add to the previous findings, we performed a GWAS including 206 trios from 97 nuclear Swedish and Norwegian families affected with celiac disease. By stratifying for HLA-DQ, we identified a new genome-wide significant risk locus covering the DUSP10 gene. To further investigate the associations from the GWAS we performed pathway analyses and two-locus interaction analyses. These analyses showed an over-representation of genes involved in type 2 diabetes and identified a set of candidate mechanisms and genes of which some were selected for mRNA expression analysis using small intestinal biopsies from 98 patients. Several genes were expressed differently in the small intestinal mucosa from patients with celiac autoimmunity compared to intestinal mucosa from control patients. From top-scoring regions we identified susceptibility genes in several categories: 1) polarity and epithelial cell functionality; 2) intestinal smooth muscle; 3) growth and energy homeostasis, including proline and glutamine metabolism; and finally 4) innate and adaptive immune system. These genes and pathways, including specific functions of DUSP10, together reveal a new potential biological mechanism that could influence the genesis of celiac disease, and possibly also other chronic disorders with an inflammatory component.
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