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2型自身免疫性多内分泌腺综合征病例:我们是如何确诊的。

Case of autoimmune polyglandular syndrome type 2: how we uncovered the diagnosis.

作者信息

Arya P V Akhila, Kumar Jayesh, Unnikrishnan Dileep, Raj Rishi

机构信息

Department of Internal Medicine, Government Medical College, Kozhikode, Kerala, India.

Department of Internal Medicine, Monmouth Medical Center, Long Branch, New Jersey, USA.

出版信息

BMJ Case Rep. 2019 Feb 26;12(2):e227187. doi: 10.1136/bcr-2018-227187.

DOI:10.1136/bcr-2018-227187
PMID:30814097
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6398778/
Abstract

A 24-year-old man with no significant medical history presented to the medical clinic with vomiting and giddiness for 2 days, loss of appetite for 1 month and progressive fatigability for the preceding 4 months. On examination, he was found to be hypotensive and was admitted to the hospital for work-up. Considering his abnormal labs and physical findings, he was worked up and was diagnosed with primary adrenal insufficiency. On further work-up for the aetiology of his Addison's disease, he was found to have concurrent autoimmune thyroiditis and vitiligo. A final diagnosis of autoimmune polyglandular syndrome type 2 was made. The patient was started on hormone replacement therapy and reported improvement of symptoms on 3-month follow-up visit.

摘要

一名24岁无明显病史的男性因呕吐和头晕2天、食欲不振1个月以及在过去4个月中逐渐出现疲劳感而前往诊所就诊。检查时发现他血压低,遂入院进行检查。鉴于其异常的实验室检查结果和体格检查发现,对他进行了全面检查,诊断为原发性肾上腺功能不全。在对其艾迪生病的病因进行进一步检查时,发现他同时患有自身免疫性甲状腺炎和白癜风。最终诊断为2型自身免疫性多腺体综合征。患者开始接受激素替代治疗,在3个月的随访中症状有所改善。

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本文引用的文献

1
Autoimmune Polyendocrine Syndromes.自身免疫性多内分泌综合征
N Engl J Med. 2018 Mar 22;378(12):1132-1141. doi: 10.1056/NEJMra1713301.
2
A Case of Autoimmune Polyglandular Syndrome .ype 2 Associated with Atypical Form of Scleromyxedema.1例2型自身免疫性多腺体综合征合并非典型硬肿病样黏液水肿
Ethiop J Health Sci. 2016 Sep;26(5):503-507.
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Delayed diagnosis with autoimmune polyglandular syndrome type 2 causing acute adrenal crisis: A case report.2型自身免疫性多腺体综合征导致急性肾上腺危象的延迟诊断:一例报告。
Medicine (Baltimore). 2016 Oct;95(42):e5062. doi: 10.1097/MD.0000000000005062.
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Autoimmune polyglandular syndrome Type 2: the tip of an iceberg?2型自身免疫性多腺体综合征:冰山一角?
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