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

Ramosaj-Morina, Atifete (2019) Clinical, biochemical and immunogenetical characteristics of celiac disease in Albanian pediatric patients from Kosovo. PhD thesis, Sveučilište u Zagrebu.

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Abstract

Introduction: Celiac disease 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 celiac disease. ----- 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 celiac disease 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: Celiac disease 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 celiac disease 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 celiac disease predisposing haplotype with a positive predictive value of 83%. ----- Conclusion: Kosovar Albanian pediatric celiac disease 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.

Abstract in Croatian

Uvod: Celijakija je imunološki posredovana kronična upalna bolest tankog crijeva koja u genetski predisponiranih osoba, nastaje uslijed prehrane glutenom. Heterodimeri HLA-DQ2 i HLA-DQ8 su neophodan, ali ne i dostatan, genetički čimbenik za razvoj celijakije. ----- Cilj: U albanske djece s Kosova s celijakijom prikazati klinička i biokemijska obilježja te analizirati i usporediti polimorfizam alela i haplotipova HLA razreda I i razreda II u bolesnika i u zdravoj kontrolnoj skupini. ----- Materijali i metode: U istraživanje je bilo uključeno 72 djece liječeno s dijagnozom celijakije u razdoblju od 2005-2016 godine u Klinici za pedijatriju, Sveučilišnog kliničkog centra Kosovo te 124 zdrave, nesrodne djece sukladne dobi, kao kontrolna skupina. Testiranje antitijela te biopsije sluznice tankog crijeva provedene su na Kosovu, a molekularna tipizacija HLA u Odjelu za tipizaciju tkiva Kliničkog bolničkog centra Zagreb. Rezultati: Ukupno je 78% bolesnika dijagnosticirano temeljem očitovanja s klasičnom slikom bolesti, srednja dob pri postavljanju dijagnoze bila je 5,5 godina, s raspodjelom spolova 1,9:1 u korist djevojčica. U skupini od 60 bolesnika s klinički potvrđenom dijagnozom, 95% ih je bilo nositelj barem jednog od rizičnih DQ heterodimera (HLA-DQ2.5, DQ8, DQ2.2), a u kontrolnoj skupini 40.32% (p<0.0001, OD=28; negativna prediktivna vrijednost 96%). Niti jedan od devet bolesnika koji su imali klinički nejasnu sliku nije bio nositelj rizičnog heterodimera DQ. HLAA* 02-B*50-DRB1*07-DQA1*02:01-DQB1*02:02 haplotip je otkriven kao rizični genetski čimbenik za celijakiju u populaciji Kosova, s pozitivnom prediktivnom vrijednošću 83%. ----- Zaključak: U albanske djece s Kosova s celijakijom utvrđena je istovjetna učestalost rizičnih heterodimera HLA-DQ2 i DQ8 kao i u drugim europskim i ne-europskim populacijama, ali uz to otkriveni su i genetički čimbenici HLA koji su specifični za albansku populaciju s Kosova.

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