An 11-year-old girl with Autoimmune Polyglandular Syndrome (APS) type 2: a case report and review of literature
| Autor: | Myrto Bonataki, Eirini Dikaiakou, Panagiota Anastasopoulou, Stefanos Fakiolas, Maria Kafetzi, Elpis Athina Vlachopapadopoulou |
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| Rok vydání: | 2023 |
| Předmět: | |
| Zdroj: | Journal of Pediatric Endocrinology and Metabolism. 36:508-512 |
| ISSN: | 2191-0251 0334-018X |
| Popis: | Objectives Autoimmune polyglandular syndrome type 2 (APS2) is characterized by autoimmune adrenal insufficiency (AI) in conjunction with autoimmune thyroid disease (AITD) and/or type 1 diabetes mellitus (T1DM). The aim is to report an 11-year-old girl with concurrence of Addison disease, celiac disease and thyroid autoimmunity. Case presentation She initially presented at the age of 5 with vomiting, dehydration, hyponatremia, hyperkalemia and low glucose. She recovered with intravenous hydration but the diagnosis was not established. She presented again at the age of 11 with hyperpigmentation, weakness and signs of impending adrenal crisis. Diagnosis of autoimmune AI was established together with celiac disease and thyroid autoimmunity. Thus, she met criteria for APS, being the third pediatric case report of APS2 with this combination. Conclusions This case is notable for the atypical age of onset, given that APS2 is rare in the pediatric population. Furthermore, it depicts the insidious course of Addison disease with symptoms fluctuating for years before diagnosis. |
| Databáze: | OpenAIRE |
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