Autoimmune polyglandular syndrome type 2 (APS 2) is defined by the presence of Addison's disease (AD) associated with autoimmune thyroid disease and/or Type 1 diabetes mellitus (T1DM). It is a rare disease, affecting about 1.4-2 cases/100,000 inhabitants. Its less frequent clinical presentation is the combination of AD, Graves' disease, and T1DM. We present the case of a 42-year-old woman with a history of total thyroidectomy due to Graves' disease, type 2 diabetes mellitus, and hypertension, who sought the ED due to asthenia, dizziness, nausea, and vomiting. She reported having stopped antihypertensive therapy due to hypotension and presented a glycemic record with frequent hypoglycemia. On physical examination, she had cutaneous hyperpigmentation. She had no leukocytosis, anemia, hypoglycemia, hyponatremia or hyperkalemia, and a negative PCR. Serum cortisol <0.5 ug/dl (4,3-22,4), urine free cortisol 9 ug/24h (28-214), ACTH 1384 pg/mL (4,7-48,8), aldosterone and renin in erect position of 0 pg/ml (41-323) and 430.7 uUI/ml (4.4-46.1) respectively. Quantiferon TB was negative; computerized axial tomography of the adrenals showed no infiltrations, hemorrhage, or masses. The 21-hydroxylase antibody assay was positive. B12 vitamin was normal, anti-GAD antibodies were positive, anti-insulin, anti-IA2, and anti-transglutaminase antibodies were all negative. The patient started insulin therapy and treatment for AD with prednisolone and fludrocortisone with good clinical response. This case aims to alert to the need for high clinical suspicion in the diagnosis of AD. Since this is a rare autoimmune disease, it is important to screen for other autoimmune diseases in order to exclude APS.

译文

自身免疫性多腺综合征2型 (APS 2) 的定义是与自身免疫性甲状腺疾病和/或1型糖尿病 (T1DM) 相关的Addison病 (AD) 的存在。这是一种罕见的疾病,影响约1.4-2例/100,000居民。其较不常见的临床表现是AD,graves病和T1DM的组合。我们介绍了一名42岁的女性,该女性因graves病,2型糖尿病和高血压而患有全甲状腺切除术,因虚弱,头晕,恶心和呕吐而寻求ED。她报告由于低血压而停止了抗高血压治疗,并出现了血糖记录,并伴有频繁的低血糖。体检时,她出现皮肤色素沉着。患者无白细胞增多,贫血,低血糖,低钠血症或高钾血症,PCR阴性。血清皮质醇 <0.5 ug/dl (4,3-22,4),尿游离皮质醇9 ug/24h (28-214),ACTH 1384 pg/mL (4,7-48,8),醛固酮和肾素的直立位置分别为0 pg/ml (41-323) 和430.7 uUI/ml (4.4-46.1)。Quantiferon TB阴性; 肾上腺的计算机轴向断层扫描显示没有浸润,出血或肿块。21-羟化酶抗体检测为阳性。维生素B12正常,抗GAD抗体阳性,抗胰岛素、anti-IA2、抗谷氨酰胺酶抗体均为阴性。患者开始胰岛素治疗,并使用泼尼松龙和氟氢可的松治疗AD,临床反应良好。该病例旨在提醒在诊断AD时需要高度临床怀疑。由于这是一种罕见的自身免疫性疾病,因此必须筛查其他自身免疫性疾病以排除APS。

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