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Clinical and immunogenetical characteristic of celiac disease in paediatric patients from single tertiary centre (CROSBI ID 719099)

Prilog sa skupa u časopisu | sažetak izlaganja sa skupa | međunarodna recenzija

Ivančić, Jana ; Žunec, Renata ; Grubić, Zorana ; Aničić, Mirna ; Omerza, Lana ; Tješić-Drinković, Duška ; Vuković, Jurica ; Senečić-Čala, Irena Clinical and immunogenetical characteristic of celiac disease in paediatric patients from single tertiary centre // Archives of disease in childhood. 2021. str. A103-A103 doi: 10.1136/archdischild-2021-europaediatrics.245

Podaci o odgovornosti

Ivančić, Jana ; Žunec, Renata ; Grubić, Zorana ; Aničić, Mirna ; Omerza, Lana ; Tješić-Drinković, Duška ; Vuković, Jurica ; Senečić-Čala, Irena

engleski

Clinical and immunogenetical characteristic of celiac disease in paediatric patients from single tertiary centre

Celiac disease (CD) is an immune-mediated systemic inflammatory disease triggered by gluten ingestion in genetically predisposed individuals with a wide spectrum of sings and symptoms. Genetic predisposition is strongly associated with HLA-DQ2 and DQ8 heterodimers (HD), also related to a higher risk of occurrence in other autoimmune conditions. Objective To investigate clinical and immunogenetic characteristics of patients with celiac disease diagnosed in a tertiary center. The data collected retrospectively from medical records from 2008.-2018. included age at the time of diagnosis, clinical presentation, results of specific 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. A classical form of CD (diarrhea, abdominal distension, failure to thrive) was found in 22 patients, (mean age at diagnosis 3.41±3, 23 yrs, median 1, 88). 18 patients had an atypical, extraintestinal presentation (mean age 9.31±3, 86 yrs, and median 9 yrs). The asymptomatic disease was found in 15 patients, mainly with diabetes type I (T1D), (mean age 9, 27±2, 67yrs, median 9). Out of 39 patients who underwent HLA typing, 36 patients were positive for either single or double dose of DQ2.5 or DQ8 HD. Among three HD negative patients, one was gene DQB1*02 double dose positive (HD DQ2.2 homozygous), one was positive for DQA gene of DQ2.5 HD, while the third one was negative for all DQA or DQB genes from CD predisposing DQ HDs. A total of 17 patients positive at very high CD risk according to the presence of either DQ2.5 in double dose or heterozygous DQ2.5/DQ8 genotype or double DQB1*02 gene dose (DQ2.5/DQ2.2 genotype) were mainly asymptomatic. Furthermore, among 11 patients positive for DQ2.5/DQ2 or DQ2.5/DQ8 genotype (double HD dose), 7 were also T1D patients, while in the remaining 28 DQ2.5 or DQ8 heterozygous and HD negative patients, only 4 were diagnosed with T1D ; the observed difference was statistically significant (p=0, 004). In our group of CD patients, clinical presentation related to age was similar to the literature data, with typical gastrointestinal manifestation in the youngest patients. Considering HLA-DQ heterodimer frequency, our patients had a similar distribution to other European and non-European patients with CD. However, since the majority of children with either DQ2.5 homozygous genotype or DQ2.5/DQ8 heterozygous genotype were CD asymptomatic patients primarily diagnosed with T1D, we would like to emphasize the importance of screening for celiac disease in this group of patients.

celiac disease ; HLA-DQ heterodimers

nije evidentirano

nije evidentirano

nije evidentirano

nije evidentirano

nije evidentirano

nije evidentirano

Podaci o prilogu

A103-A103.

2021.

nije evidentirano

objavljeno

10.1136/archdischild-2021-europaediatrics.245

Podaci o matičnoj publikaciji

Archives of disease in childhood

0003-9888

1468-2044

Podaci o skupu

10th Congress of European Paediatric Association EPA/UNEPSA jointly held with 14 th Congress of Croatian Paediatric Society

poster

07.09.2021-09.10.2021

Zagreb, Hrvatska

Povezanost rada

Kliničke medicinske znanosti, Temeljne medicinske znanosti

Poveznice
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