Pediatric Division, Department of Pediatrics, University Hospital of Verona, Piazzale Stefani 1, 37126, Verona, Italy.
Pediatric Clinic, Department Surgical Sciences, Dentistry, Gynecology and Pediatrics, University of Verona, Verona, Italy.
Ital J Pediatr. 2023 Jul 29;49(1):94. doi: 10.1186/s13052-023-01502-y.
Primary adrenal insufficiency (PAI) in childhood is a life-threatening disease most commonly due to impaired steroidogenesis. Differently from adulthood, autoimmune adrenalitis is a rare condition amongst PAI's main aetiologies and could present as an isolated disorder or as a component of polyglandular syndromes, particularly type 2. As a matter of fact, autoimmune polyglandular syndrome (APS) type 2 consists of the association between autoimmune Addison's disease, type 1 diabetes mellitus and/or Hashimoto's disease.
We report the case of an 8-year-old girl who presented Addison's disease and autoimmune thyroiditis at an early stage of life. The initial course of the disease was characterized by numerous crises of adrenal insufficiency, subsequently the treatment was adjusted in a tertiary hospital with improvement of disease control.
APS type 2 is a rare condition during childhood, probably because it may remain latent for long periods before resulting in the overt disease. We recommend an early detection of APS type 2 and an adequate treatment of adrenal insufficiency in a tertiary hospital. Moreover, we underline the importance of a regular follow-up in patients with autoimmune diseases, since unrevealed and incomplete forms are frequent, especially in childhood.
儿童期原发性肾上腺功能不全（PAI）是一种危及生命的疾病，最常见的原因是类固醇生成受损。与成人不同，自身免疫性肾上腺炎是 PAI 主要病因中的罕见情况，可表现为孤立性疾病或作为多腺体综合征的一个组成部分，特别是 2 型。事实上，自身免疫性多腺体综合征（APS）2 型由自身免疫性 Addison 病、1 型糖尿病和/或桥本甲状腺炎的联合组成。
我们报告了一例 8 岁女孩，在生命早期即出现 Addison 病和自身免疫性甲状腺炎。疾病的初始病程表现为多次肾上腺功能不全危象，随后在三级医院进行调整治疗，疾病得到了控制。
APS 2 型在儿童期较为罕见，可能是因为它在导致显性疾病之前很长一段时间内可能处于潜伏状态。我们建议在三级医院早期发现 APS 2 型并对肾上腺功能不全进行适当治疗。此外，我们强调在自身免疫性疾病患者中进行定期随访的重要性，因为未发现和不完全形式很常见，尤其是在儿童期。
