engleski

Clinical, biochemical and immunogenetical characteristics of Albanian pediatric celiac disease patients from Kosovo

Introduction: Celiac disease (CD) is an immune-mediated chronic inflammatory disorder triggered after gluten ingestion in genetically susceptible individuals. HLA-DQ2 and HLA-DQ8 heterodimers have been recognized as necessary - but not sufficient – genetic factors for the occurrence of CD. Aim: To present the clinical and biochemical characteristics in celiac disease Kosovar Albanian children as well as to analyse HLA class I and class II allele and haplotype polymorphism in patients and matched controls. Materials and methods: A total of 72 patients treated for CD from 2005 to 2016 at Pediatric Clinic, University Clinical Center of Kosovo and 124 age matched, unrelated healthy children as control group were enrolled in the study. Serum antibody testing and small bowel biopsies were performed in Kosovo while molecular HLA typing was done in Tissue Typing Center, UHC Zagreb. Results: CD was diagnosed due to classical form of presentation in 78% of patients. Mean age at the time of diagnosis was 5.5 years, sex distribution showed a female predominance (1.9:1). Among 60 confirmed CD patients, 95.00 % carried at least one of the risk DQ heterodimers (HLA-DQ2.5, DQ8, DQ2.2) in comparison with 40.32% of controls (p<0.0001, OD=28 ; negative predictive value 96%). None of the nine clinically unconfirmed patients carried the predisposing DQ heterodimer. The HLA-A*02-B*50-DRB1*07-DQA1*02:01-DQB1*02:02 was found as population specific CD predisposing haplotype with a positive predictive value of 83%. Conclusion: Kosovar Albanian pediatric CD patients show the same distribution of predisposing HLA-DQ2 and DQ8 heterodimers as in other European and non-European populations but some HLA genetic factors specific for Kosovar Albanian population have also been determined. Key words: Celiac disease, HLA, DQ heterodimer, Kosovo Albanian children.

Celiac disease, HLA, DQ heterodimer, Kosovo Albanian children

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