2nd Department of Internal Medicine, Hippokration General Hospital, Athens, Greece.
2nd Department of Internal Medicine, Hippokration General Hospital, Athens, Greece.
Am J Med Sci. 2024 Aug;368(2):162-166. doi: 10.1016/j.amjms.2024.05.019. Epub 2024 May 25.
Autoimmune polyglandular syndrome (APS) is a rare group of immune-mediated disorders, which are typically, but not exclusively, related to the presence of endocrine abnormalities. APS type 2 is the most common subtype of the syndrome, more often observed in adulthood, with a characteristic clinical triad, which includes adrenal insufficiency, autoimmune thyroiditis and diabetes mellitus type 1. Adrenal insufficiency is an essential and necessary clinical manifestation of the syndrome, as it is observed in 100 % of the cases, while it can be accompanied by hyperchloremic metabolic acidosis. Herein, we present a 23 years-old patient with adrenal insufficiency in the context of autoimmune polyglandular syndrome type 2 with coexisting autoimmune thyroiditis and metabolic acidosis with an increased anion gap attributed to prolonged malnutrition. Additionally, we analyze the main clinical features of adrenal insufficiency, which is a central component of autoimmune polyglandular syndrome; highlight characteristics that differentiate the major APS subtypes.
自身免疫性多腺体综合征（APS）是一组罕见的免疫介导性疾病，通常（但并非绝对）与内分泌异常有关。APS 型 2 是该综合征最常见的亚型，更常见于成年期，具有特征性的三联征，包括肾上腺皮质功能不全、自身免疫性甲状腺炎和 1 型糖尿病。肾上腺皮质功能不全是该综合征的一个必要的临床表现，因为在 100%的病例中都观察到了这种情况，而它可能伴有高氯性代谢性酸中毒。在此，我们介绍了一位 23 岁的患者，其患有自身免疫性多腺体综合征 2 型，伴有肾上腺皮质功能不全、自身免疫性甲状腺炎和代谢性酸中毒，阴离子间隙增加归因于长期营养不良。此外，我们分析了肾上腺皮质功能不全的主要临床特征，这是自身免疫性多腺体综合征的核心组成部分；强调了区分主要 APS 亚型的特征。
