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Aim. The aim of the study was to determine the usefulness of HLA DQ2/DQ8 genotyping in children with T1D in various clinical situations: as a screening test at the diabetes onset, as a verification of the diagnosis in doubtful situations, and as a test estimating the risk of CD in the future. Materials and methods. Three groups of patients with T1D were included: newly diagnosed (n=92), with CD and villous atrophy (n=30), and with potential CD (n=23). Genetic tests were performed (commercial test, PCR, and REX), and clinical data were collected. Results. The results of genetic tests confirmed the presence of DQ2/DQ8 in 94% of children with diabetes (group I) and in 100% of children with diabetes and CD (groups II and III, respectively). Comparative analysis of the HLA DQ2/DQ8 distribution did not show any differences. Allele DRB1∗04 (linked with HLA DQ8) was significantly less common in children with diabetes and CD (group I versus groups II and III, 56.5% vs. 24.5%; p=0.001). The probability of developing CD in DRB1∗04-positive patients was 4 times lower (OR 0.25; 95% CI 0.118-0.529; p=0.001). DRB1∗04 was significantly less frequent in children with villous atrophy compared to potential CD (13% vs. 39%; p=0.03). Conclusions. Genotyping HLA DQ2/DQ8 as a negative screening has limited use in assessing the risk of CD at the diabetes onset and does not allow to verify the diagnosis of CD in doubtful situations. The presence of the DRB1∗04 allele modulates the risk of CD and significantly reduces it and can predict a potential form.

Diabetes type 1(T1D) is the most frequent form of diabetes in children and young people, which essence is autoimmune destruction of pancreatic B cells islet. Co-occurrence of other autoimmune diseases is observed in children with T1D, the most often are: Hashimoto disease or coeliac disease. We report the case of the patient, who presents coincidence of T1D with other rare autoimmune diseases such as: Graves - Basedow disease, myasthenia gravis, vitiligo and IgA deficiency. All mentioned diseases significantly complicated both endocrine and diabetic treatment of our patient and they negatively contributed her quality of life. The clinical picture of the case allows to recognize one of the autoimmune polyendocrine syndromes: APS-3 and is associated with still high risk of developing another autoimmune disease.Cukrzyca typu 1 to najczęstsza postać cukrzycy u dzieci i młodzieży, której istotę stanowi autoimmunizacyjna destrukcja komórek beta wysp trzustkowych. Niejednokrotnie u dzieci z cukrzycą typu 1 obserwuje się współwystępowanie innych jednostek chorobowych ze spektrum autoagresji, najczęściej chorób tarczycy pod postacią limfocytarnego zapalenia oraz celiakii. Przedstawiamy przypadek pacjentki, u której stwierdzono koincydencję cukrzycy z innymi rzadziej występującymi chorobami autoimmunizacyjnymi: z chorobą Gravesa- Basedowa, miastenią gravis, bielactwem i niedoborem IgA. Wymienione jednostki chorobowe znacząco utrudniły zarówno diabetologiczne, jak i endokrynologiczne prowadzenie pacjentki oraz wpłynęły negatywnie na jakość jej życia. Całość obrazu klinicznego pozwala na rozpoznanie jednej z postaci autoimmunologicznych zespołów niedoczynności wielogruczołowej – zespołu APS-3, co wiąże się ze stale występującym wysokim ryzykiem rozwoju kolejnej choroby autoimmunizacyjnej.