Abstract
AbstractThe autoimmune polyglandular syndrome (APS) type II is defined by the presence of autoimmune Addison's disease (AD) associated with type 1 diabetes mellitus (T1DM) and/or autoimmune thyroid disease. It is usually associated with other «minor» autoimmune manifestations. The authors report the case of an adolescent with APS type II, presented at the age of twelve by T1DM, autoimmune hepatitis type 1 with cirrhosis and pancytopenia. The clinical and analytical investigation confirmed autoimmune AD, presence of anti-thyroid antibodies, autoimmune gastritis, celiac disease, immune thrombocytopenia and selective IgA deficiency. During the study of genotyping of HLA-DQ the haplotypes HLA-DQB1*03,*02 were identified. Initially the patient was treated with insulin, prednisolone and mycophenolate mofetil with partial clinical response. Currently, four years after the diagnosis, the patient is on a gluten-free diet, vitamins and mineral supplements, insulin pump therapy, prednisolone and azathioprine with control of liver function and anemia resolution, but with difficult glycemic control. The authors describe this case for its clinical complexity and age of presentation, since this syndrome is extremely rare in paediatric age.
Published Version
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