Diagnostic aspects of autoimmune polyglandular syndrome type 1 in children: a clinical case

Objective : to highlight the difficulties of diagnosing autoimmune polyglandular syndrome type 1 (APC-1) in children, using the example of a clinical case with atypical onset. Materials and methods : the article presents a clinical case of a 3-yearold girl in whom the manifestation of APC-1 began with autoimmune hepatitis type 2, followed by the development of a classic triad of symptoms. The analysis of clinical and laboratory data and the results of a molecular genetic study was carried out. Results: molecular genetic analysis confirmed the diagnosis of APC-1 (homozygous mutation c.769C>T p.R257X in the AIRE gene). Against the background of immunosuppressive and hormone replacement therapy, positive dynamics from hepatitis was noted, however, the syndrome progressed with the addition of hypoparathyroidism and primary adrenal insufficiency, which required repeated correction of treatment. Conclusion : the described case illustrates the polymorphism of the clinical picture of APC-1 and highlights the need for caution regarding this syndrome in children with isolated autoimmune diseases. Early genetic verification is key for the timely initiation of complex therapy.