Bonataki Myrto, Dikaiakou Eirini, Anastasopoulou Panagiota, Fakiolas Stefanos, Kafetzi Maria, Vlachopapadopoulou Elpis Athina
Department of Endocrinology-Growth and Development, Children's Hosp. "P. A. Kyriakou", Athens, Greece.
Department of Pediatrics, Thriassio Hospital, Athens, Greece.
J Pediatr Endocrinol Metab. 2023 Mar 15;36(5):508-512. doi: 10.1515/jpem-2022-0619. Print 2023 May 25.
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.
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.
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.
2型自身免疫性多腺体综合征（APS2）的特征是自身免疫性肾上腺功能不全（AI）合并自身免疫性甲状腺疾病（AITD）和/或1型糖尿病（T1DM）。目的是报告一名患有艾迪生病、乳糜泻和甲状腺自身免疫并发的11岁女孩。
她最初在5岁时出现呕吐、脱水、低钠血症、高钾血症和低血糖。经静脉补液后康复，但未确诊。她11岁时再次出现色素沉着、虚弱和即将发生肾上腺危象的体征。自身免疫性AI的诊断与乳糜泻和甲状腺自身免疫同时确立。因此，她符合APS的标准，是第三例有这种组合的APS2儿科病例报告。
鉴于APS2在儿科人群中罕见，该病例的发病年龄不典型，值得关注。此外，它描述了艾迪生病的隐匿病程，症状在诊断前数年波动。
