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艾迪生病:一种易被忽视的诊断。

Addison's Disease: A Diagnosis Easy to Overlook.

作者信息

Mosca Ana Margarida, Barbosa Mariana, Araújo Rosário, Santos Maria Joana

机构信息

Internal Medicine, Hospital de Braga, Braga, PRT.

Endocrinology, Hospital de Braga, Braga, PRT.

出版信息

Cureus. 2021 Feb 15;13(2):e13364. doi: 10.7759/cureus.13364.

DOI:10.7759/cureus.13364
PMID:33747659
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7970155/
Abstract

Addison's disease is a rare and potentially life-threatening clinical condition that often presents with an insidious onset of nonspecific symptoms and signs, frequently resulting in a significant delay in diagnosis. Clinical presentation usually includes fatigue and electrolyte imbalance disorders such as hyponatremia. However, specific diagnostic features, such as hyperpigmentation, should raise clinical suspicion. This case report describes a 43-year-old Caucasian male who presented with general malaise, fatigue, anorexia, and weight loss (7 Kg in four weeks). On physical examination, he was found to have severe hyperpigmentation of the skin and mucosal surfaces as well as hypotension. Laboratory tests revealed hypoosmolar hyponatremia and serum potassium levels in the upper limit of normal. Findings of high serum adrenocorticotropic hormone (ACTH) and renin, as well as low cortisol and aldosterone levels, helped establish a diagnosis of Addison's disease. After the initiation of treatment, the patient experienced full recovery of symptoms, normalization of hyponatremia, and improvement of hyperpigmentation. Patients with Addison's disease have the potential to resume normal daily activities with a highly functional status. However, this condition requires lifelong follow-up and surveillance.

摘要

艾迪生病是一种罕见且可能危及生命的临床病症,常隐匿起病,伴有非特异性症状和体征,常常导致诊断显著延迟。临床表现通常包括疲劳以及诸如低钠血症等电解质失衡紊乱。然而,诸如色素沉着等特异性诊断特征应引起临床怀疑。本病例报告描述了一名43岁的白种男性,他出现全身不适、疲劳、厌食和体重减轻(四周内减轻7千克)。体格检查发现他有皮肤和黏膜表面严重色素沉着以及低血压。实验室检查显示低渗性低钠血症且血清钾水平处于正常上限。高血清促肾上腺皮质激素(ACTH)和肾素水平,以及低皮质醇和醛固酮水平的检查结果有助于确诊艾迪生病。开始治疗后,患者症状完全恢复,低钠血症得以纠正,色素沉着有所改善。艾迪生病患者有可能以高功能状态恢复正常日常活动。然而,这种病症需要终身随访和监测。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c6f4/7970155/1588b12c1dc9/cureus-0013-00000013364-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c6f4/7970155/9849b9abf949/cureus-0013-00000013364-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c6f4/7970155/1588b12c1dc9/cureus-0013-00000013364-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c6f4/7970155/9849b9abf949/cureus-0013-00000013364-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c6f4/7970155/1588b12c1dc9/cureus-0013-00000013364-i02.jpg

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本文引用的文献

1
Hyponatraemia and hyperpigmentation in primary adrenal insufficiency.原发性肾上腺皮质功能减退症中的低钠血症和色素沉着
BMJ Case Rep. 2019 Mar 7;12(3):e227200. doi: 10.1136/bcr-2018-227200.
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An Update on Addison's Disease.艾迪生病最新进展
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Autoimmune Addison's disease - An update on pathogenesis.自身免疫性肾上腺皮质功能减退症——发病机制的最新进展。
Ann Endocrinol (Paris). 2018 Jun;79(3):157-163. doi: 10.1016/j.ando.2018.03.008. Epub 2018 Apr 7.
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Addison disease: early detection and treatment principles.艾迪生病:早期发现和治疗原则。
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Consensus statement on the diagnosis, treatment and follow-up of patients with primary adrenal insufficiency.原发性肾上腺功能不全患者的诊断、治疗和随访共识声明。
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