Abstract

Introduction: Type 1 diabetes and celiac disease are both immunologic disorders where specific HLA alleles are associated with disease risk. Objective: To estimate the prevalence of celiac disease (CD) and to describe the clinical features and HLA class II genotypes predictive of CD in our pediatric type 1 diabetes mellitus patients. Material and Methods: 65 patients underwent serologic screening with endomysial antibody and tissue transglutaminase antibody testing. CD was confirmed in serologic positive patients by intestinal biopsy. All the patients also underwent HLA class II genotyping. Determination of HLA-DQ alleles was done by sequence-specific oligonucleotids hybridization after DNA amplification by polymerase chain reaction. Results: A total of 65 patients with type 1 diabetes were tested, representing 12 % of all type 1 diabetes patients from our county, and 4 had biopsy-proven CD, representing 6.1%, for an estimated point prevalence of 7.0% (95% Confidence Interval, 3.5%-12.1%). Most CD-positive type 1 diabetes patients were asymptomatic and expressed an atrisk CD haplotype with at least one of but not both HLA DQ2 or DQ8. Patient 1: DRB1 3,3 (0301,0301)/ DQB1 2,2 (0201,0201). Patient 2: DRB1 4,13 (0401, 1302)/ DQB1 3,6 (0302, 0604). Patient 3: DRB1 3,16 (0301, 1601)/ DQB1 2, 5 (0201, 0502). Patient 4: DRB1 3,3 (0301, 0301)/ DQB1 2,2 (0201, 0201). Conclusions: Celiac disease is not rare in our patients with type 1 diabetes, and most CD-positive patients with type 1 are asymptomatic irrespective of age at screening. HLA-DQ genotype in children with T1DM may help in estimating the CD risk.

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