An assessment of phenotype and haplotype in patients with coeliac disease hospitalised in the Department of Paediatrics, Immunology and Nephrology of the Polish Mother’s Memorial Hospital – Research Institute in Łódź between 2012 and 2018
1 Department of Paediatrics, Preventive Cardiology and Immunology of Developmental Age, Medical University of Lodz, Łódź, Poland
2 Department of Paediatrics, Immunology and Nephrology, Polish Mother’s Memorial Hospital – Research Institute, Łódź, Poland
3 Division of Nutrition in Digestive Tract Diseases, Department of Gastroenterology, Medical University of Lodz, Łódź, Poland
Correspondence: Dorota Szałowska-Woźniak, Department of Paediatrics, Preventive Cardiology and Immunology of Developmental Age, Medical University of Lodz, Kościuszki 4, 90-419 Łódź, Poland, tel.: +48 42 271 13 87, e-mail: dorota.szalowska@umed.lodz.pl
Pediatr Med Rodz 2018, 14 (4), p. 396–401
DOI: 10.15557/PiMR.2018.0051
ABSTRACT

Introduction: Coeliac disease is a genetically determined intolerance to gluten found in European cereal grains (wheat, rye, barley). Four clinical forms of coeliac disease have been distinguished: classical, non-classical, subclinical and potential. According to the ESPGHAN (European Society for Paediatric Gastroenterology, Hepatology and Nutrition) 2012 criteria, coeliac disease is diagnosed in a patient with clinical manifestations indicative of coeliac disease, tissue-transglutaminase antibody titers with levels >10 times the upper limit of normal, who is tested positive for endomysial antibodies and HLA-DQ2 and/or HLA-DQ8 haplotype. Inclusion of and compliance with a gluten-free diet is the only appropriate treatment for patients diagnosed with coeliac disease. Aim: The aim of the study was to perform a haplotype and phenotype analysis in children diagnosed for coeliac disease in the Department of Paediatrics, Immunology and Nephrology of the Polish Mother’s Memorial Hospital – Research Institute in Łódź in the years 2012–2018. Material and methods: A total of 40 patients aged between 12 months and 17 years and 3 months (mean age 7 years and 1 month), including 24 girls and 16 boys, hospitalised in the Department due to suspected coeliac disease were included in the study. The presented findings were part of standard diagnostic management following a child’s admission to hospital. Results: Two cases of classical and 38 cases of non-classical coeliac disease were diagnosed in the study group of 40 patients. A total of 31 children presented with HLA-DQ2, 5 with HLA-DQ8, and 4 with DQ2/DQ8. Conclusions: The non-classical form of coeliac disease and HLA-DQ2 genotype were the most common findings in patients with coeliac disease.

Keywords: coeliac disease, HLA-DQ2, HLA-DQ8, tissue transglutaminase