Biokemijske i imunogenetske karakteristike pedijatrijskih pacijenata s celijakijom u KBC-u Zagreb

master's thesis

• Title (english): Biochemical and immunogenetic characteristics of pediatric patients with celiac disease at UHC Zagreb
• Author: Jana Ivančić
• Mentor: Irena Senečić-Čala (mentor)
• Committee member: Jurica Vuković (predsjednik povjerenstva)
• Committee member: Marija Jelušić (član povjerenstva)
• Committee member: Irena Senečić-Čala (član povjerenstva)
• Granter: University of Zagreb; School of Medicine; (Department of Pediatrics); Zagreb
• Defense date and country: 2020-07-17, Croatia
• Scientific / art field, discipline and subdiscipline: BIOMEDICINE AND HEALTHCARE; Clinical Medical Sciences; Pediatrics

Abstract

Celijakija je kronična imunološki posredovana enteropatija u genetički predisponiranih osoba izloženih glutenu. Karakterizirana je širokim spektrom simptoma, od gastrointestinalnih do ekstraintestinalnih. Genetska predispozicija povezana je s prisutnošću HLA-DQ2 i/ili DQ8 heterodimera, koji su povezani s povećanim rizikom obolijevanja od drugih autoimunih bolesti, dominantno šećerne bolesti tip 1 (DM1). Cilj ovog rada bio je istražiti kliničke, biokemijske i imunogenetske karakteristike pacijenata s celijakijom na Klinici za pedijatriju KBC-a Zagreb. Provedeno je retrospektivno istraživanje u kojemu su prikupljani podaci o dobi pri postavljanju dijagnoze, kliničkoj prezentaciji, biokemijskim i histološkim nalazima te nalazima HLA tipizacije iz medicinske dokumentacije pacijenata dijagnosticiranih u razdoblju od 2008. do 2018. godine. Istraživanje je uključivalo 55 pacijenata, 29 ženskog i 26 muškog spola (1,12:1), prosječne dobi 11,7 ± 4,62 godine. Klasični oblik bolesti (proljev, abdominalna distenzija i nenapredovanje) utvrđen je u 22 od 55 pacijenta (prosječna dob pri postavljanju dijagnoze 3,41 godina). U 18 pacijenata nađena je atipična prezentacija (prosječna dob pri postavljanju dijagnoze 9,31 godina). Asimptomatska celijakija utvrđena je u 15 pacijenata, većinom onih s novodijagnosticiranim DM1. Od 39 pacijenata kod kojih je provedena HLA tipizacija, njih 36 su bili HLA-DQ2.5 i/ili DQ8 homozigoti ili heterozigoti. Pacijenti s vrlo visokim rizikom obolijevanja od celijakije prema HLA tipizaciji bili su većinom asimptomatski, 8 od 17 pacijenata imali su DM1. Dva su pacijenta bolovala od autoimunog tireoiditisa, jedan s vrlo visokim rizikom, drugi s visokim rizikom. Klinička prezentacija pacijenata u istraživanju bila je sukladna literaturi, uz prisustvo klasične prezentacije u pacijenata najmlađe dobne skupine. Frekvencija rizičnih HLA heterodimera pacijenata slična je onoj u pacijenata drugih europskih i ne-europskih država. Međutim, s obzirom na to da je velik broj pacijenata s vrlo visokim rizikom obolijevanja od celijakije ujedno bolovao od šećerne bolesti tip 1, potrebno je naglasiti važnost probira u toj skupini pacijenata.

Abstract (english)

Coeliac disease is a chronic immune-mediated systemic inflammatory disease triggered by gluten ingestion in genetically predisposed individuals. Clinical picture ranges from gastrointestinal to extraintestinal manifestations. Genetic predisposition is related to the presence of HLA-DQ2 and DQ8 heterodimers, also connected to a higher risk of the occurrence in other autoimmune conditions, most commonly diabetes type 1 (DM1). The aim of this study was to investigate clinical, biochemical and immunogenetical characteristics of patients with coeliac disease diagnosed at the Department of Paediatrics at University Hospital Centre Zagreb. The data collected retrospectively from medical records from 2008 to 2018 included age at the time of diagnosis, clinical presentation, results of antibody testing, small bowel biopsy and HLA typing. A total of 55 patients were enrolled, 29 females and 26 males (1.12:1), mean age 11.7 ± 4.62 years. The classical form of coeliac disease (diarrhoea, abdominal distension, failure to thrive) was found in 22 out of 55 patients (mean age of diagnosis 3.41 years). In 18 patients with atypical presentation mean age at the time of diagnosis was 9.31 years. The asymptomatic disease was found in 15 patients, mostly with newly diagnosed diabetes type I. Out of 39 patients who underwent HLA typing, 36 patients were positive for either single or double dose of DQ2.5 or DQ8 HD. Patients at very high risk according to HLA typing were mainly asymptomatic, 8 out of 17 were patients with DM1. There were two patients with autoimmune thyroiditis, one at very high risk and one at high risk. Clinical presentation according to age was similar to the general population of patients with coeliac disease, most common symptoms in the youngest age group being typical gastrointestinal. Considering HLA-DQ heterodimer frequency, our patients have a similar distribution to other European and non-European patients with coeliac disease. However, since many patients with a very high risk of developing coeliac disease according to HLA typing were patients with DM1, we would like to emphasize the importance of screening for coeliac disease in this group of patients.

• Keywords: celijakija; DQ heterodimer; gluten; HLA; šećerna bolest tip 1
• Keywords (english): coeliac disease; DQ heterodimer; gluten; HLA; diabetes type 1
• Language: croatian
• URN:NBN: urn:nbn:hr:105:398096
• Study programme: Title: Medicine; Study programme type: university; Study level: integrated undergraduate and graduate; Academic / professional title: doktor/doktorica medicine (doktor/doktorica medicine)
• Type of resource: Text
• File origin: Born digital
• Access conditions: Open access
• Created on: 2021-09-10 09:00:22