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Skrabl-Baumgartner, A; Christine Hauer, A; Erwa, W; Jahnel, J.
HLA genotyping as first-line screening tool for coeliac disease in children with juvenile idiopathic arthritis.
Arch Dis Child. 2017; 102(7):607-611
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Autor/innen der Med Uni Graz:
Erwa Wolfgang
Hauer Almuthe
Jahnel Jörg
Skrabl-Baumgartner Andrea
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Abstract:
Coeliac disease (CD) and juvenile idiopathic arthritis (JIA) often coexist. This association warrants assessment for CD in patients with JIA. We evaluated the clinical relevance and cost-effectiveness of human leucocyte antigen (HLA) genotyping in first-line screening for development of CD in children with JIA. 95 patients with JIA were screened for CD using CD-specific antibodies. In case of positivity, a small intestinal biopsy was performed to confirm diagnosis. In addition, HLA genotyping was performed. 110 age-matched and sex-matched Caucasian children from the same geographical area served as controls. CD was diagnosed in 4 of 95 patients with JIA (4.2%), a rate significantly higher compared with controls (p<0.02) and 14 times higher than in the general population. Twenty-six patients (27.4%) had one of the variants of the risk genotypes. All four patients diagnosed with CD had a HLA-DQ2.5 genotype: one was homozygote, the remainder heterozygote. Twenty-two patients are, judging by their HLA genotypes, at risk of developing CD and require repeated serological screening. None of the 69 patients without HLA-DQ2/DQ8 genotypes had CD-specific antibodies. Screening with HLA genotyping becomes cheaper than screening without after the second determination. In our cohort of patients with JIA, lack of HLA-DQ2/DQ8 genotypes identified a majority not at risk of CD in whom repeated serological testing is unnecessary. Genotyping is nowadays the most efficient and cost-effective way to screen for CD risk in JIA. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/.
Find related publications in this database (using NLM MeSH Indexing)
Adolescent -
Age of Onset -
Arthritis, Juvenile - economics
Arthritis, Juvenile - genetics
Arthritis, Juvenile - immunology
Autoantibodies - metabolism
Celiac Disease - diagnosis
Celiac Disease - economics
Celiac Disease - genetics
Celiac Disease - immunology
Child -
Child, Preschool -
Cost-Benefit Analysis -
Early Diagnosis -
Female -
Genotype -
Genotyping Techniques - economics
Genotyping Techniques - methods
HLA-DQ Antigens - genetics
Humans -
Infant -
Male -
Prospective Studies -

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