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肾上腺功能减退作为自身免疫性多内分泌腺综合征1型的单一表现

Hypoadrenalism as the Single Presentation of Autoimmune Polyglandular Syndrome Type 1.

作者信息

Nasser Nadim H, Samra Nadra G, Naccache Deeb D

机构信息

Clalit Health Organization, Haifa, Israel.

Bar-Ilan University Faculty of Medicine, Safed, Israel.

出版信息

J Endocr Soc. 2021 Sep 23;5(12):bvab151. doi: 10.1210/jendso/bvab151. eCollection 2021 Dec 1.

Abstract

Type 1 autoimmune polyglandular syndrome (APS1) is a rare hereditary disease affecting nearly 600 patients worldwide. The first of its cardinal manifestations, chronic mucocutaneous candidiasis, hypoparathyroidism, or Addison's disease, presents in childhood. Additional nonclassical landmarks of APS1 continue to develop as late as the fifth decade of life. Two thirds of patients develop the full triad before 25 years of age. Only 20% of patients develop the entire triad simultaneously. Addison's disease is rarely reported as the first manifestation. According to APS1 classifications, restricted criteria for a single cardinal component, although elements of suspicion are not sufficient to diagnose APS1. This case report is peculiar as hypoadrenalism was the first and only manifestation of APS1 for nearly 3 decades since its diagnosis. Theoretically, exceptions from the protocol of APS1 diagnostic criteria would be recognized as acceptable for diagnosis in the future, when similar case reports of only 1 component of APS1 appear.

摘要

1型自身免疫性多腺体综合征(APS1)是一种罕见的遗传性疾病,全球范围内影响着近600名患者。其主要表现之一,即慢性黏膜皮肤念珠菌病、甲状旁腺功能减退或艾迪生病,在儿童期出现。APS1的其他非典型特征甚至在生命的第五个十年仍会继续出现。三分之二的患者在25岁之前会出现完整的三联征。只有20%的患者会同时出现整个三联征。艾迪生病很少被报道为首发表现。根据APS1的分类,单一主要成分的严格标准,尽管有可疑因素,但不足以诊断APS1。本病例报告很特殊,因为自诊断以来近30年,肾上腺功能减退一直是APS1的首个也是唯一表现。从理论上讲,当出现仅表现为APS1单一成分的类似病例报告时,未来对于偏离APS1诊断标准方案的情况将被视为可接受的诊断。

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