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一名患有持续性疲劳的儿童罕见的2型自身免疫性多内分泌腺综合征病例。

A Rare Case of Autoimmune Polyglandular Syndrome Type 2 in a Child With Persistent Fatigue.

作者信息

Smith Ryan Kenneth, Gerrits Peter M

机构信息

Beaumont Hospital, Troy, MI, USA.

Beaumont Children's Hospital, Royal Oak, MI, USA.

出版信息

Glob Pediatr Health. 2019 May 1;6:2333794X19845074. doi: 10.1177/2333794X19845074. eCollection 2019.

Abstract

Adrenal insufficiency is a rare, potentially life-threatening condition whose diagnosis requires a high index of suspicion. Adrenal insufficiency may be primary, secondary, or tertiary with varied etiologies. Primary insufficiency may be part of a cluster of autoimmune diseases, referred to as autoimmune polyglandular syndrome(s) (APS). We describe a case of a 15-year-old male who presents to a local emergency department complaining of fatigue, fever, abdominal pain, nausea, and vomiting for a few days with a preceding viral illness. The patient was hyponatremic and hyperkalemic with skin hyperpigmentation, raising concern for adrenal insufficiency. Laboratory workup confirmed autoimmune primary adrenal insufficiency, with subsequent laboratory studies revealing autoimmune thyroiditis and celiac disease. Concomitant Addison's and Hashimoto's diseases led to a diagnosis of APS type 2. The patient was started on steroid replacement with rapid clinical improvement.

摘要

肾上腺功能不全是一种罕见的、可能危及生命的疾病,其诊断需要高度的怀疑指数。肾上腺功能不全可能是原发性、继发性或三发性的,病因各不相同。原发性肾上腺功能不全可能是自身免疫性疾病群的一部分,称为自身免疫性多腺体综合征(APS)。我们描述了一例15岁男性病例,该患者因几天前的病毒感染性疾病就诊于当地急诊科,主诉疲劳、发热、腹痛、恶心和呕吐。患者出现低钠血症、高钾血症并伴有皮肤色素沉着,这引起了对肾上腺功能不全的关注。实验室检查确诊为自身免疫性原发性肾上腺功能不全,随后的实验室研究显示患有自身免疫性甲状腺炎和乳糜泻。艾迪生病和桥本氏病并存导致诊断为2型APS。患者开始接受类固醇替代治疗,临床症状迅速改善。

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