Suppr超能文献

小儿非先天性肾上腺增生症的见解:基于5例原发性肾上腺功能不全罕见病例的综述

Insights Into Pediatric Non-congenital Adrenal Hyperplasia: A Review Based on 5 Different Rare Cases with Primary Adrenal Insufficiency.

作者信息

Cetin Sirmen Kizilcan, Siklar Zeynep, Ozsu Elif, Aycan Zehra, Berberoglu Merih

机构信息

Department of Pediatric Endocrinology, Ankara University School of Medicine, Ankara, Türkiye.

出版信息

Turk Arch Pediatr. 2025 May 2;60(3):258-267. doi: 10.5152/TurkArchPediatr.2025.24339.

Abstract

Adrenal insufficiency presents a significant clinical challenge due to its diverse etiologies and potentially life-threatening consequences. This review highlights the spectrum of adrenal insuf- ficiency, focusing on primary adrenal insufficiency (PAI). Childhood PAI, predominantly con- genital, presents unique diagnostic and management considerations. An aspect of this review is the discussion of PAI related to non-congenital adrenal hyperpla- sia, particularly adrenocorticotropic hormone (ACTH) resistance syndromes and autoimmune adrenal insufficiency. The clinical presentation, diagnosis, and treatment management of these rare childhood PAI types are assessed through 5 case studies. Despite advancements in genetic understanding, some cases are unsolved and remain diag- nostic mysteries. There is a need for further research and elucidation of molecular etiopatho- genesis in adrenal insufficiency. Clinicians are pivotal in identifying these rare diseases and providing lifesaving outcomes.

摘要

肾上腺功能不全因其病因多样且可能危及生命的后果而带来重大的临床挑战。本综述重点介绍了肾上腺功能不全的范围,着重关注原发性肾上腺功能不全(PAI)。儿童期PAI主要为先天性,具有独特的诊断和管理考量。本综述的一个方面是讨论与非先天性肾上腺增生相关的PAI,特别是促肾上腺皮质激素(ACTH)抵抗综合征和自身免疫性肾上腺功能不全。通过5个病例研究评估了这些罕见儿童PAI类型的临床表现、诊断和治疗管理。尽管在遗传学认识方面取得了进展,但一些病例仍未得到解决,仍然是诊断之谜。需要进一步研究并阐明肾上腺功能不全的分子发病机制。临床医生在识别这些罕见疾病并提供挽救生命的结果方面起着关键作用。

相似文献

4
Pediatric Primary Adrenal Insufficiency: A 21-year Single Center Experience.小儿原发性肾上腺皮质功能不全:21 年单中心经验。
J Clin Res Pediatr Endocrinol. 2021 Feb 26;13(1):88-99. doi: 10.4274/jcrpe.galenos.2020.2020.0132. Epub 2020 Sep 17.
6
The multiple faces of autoimmune Addison's disease in children.儿童自身免疫性艾迪生病的多种表现。
Front Endocrinol (Lausanne). 2024 Sep 16;15:1411774. doi: 10.3389/fendo.2024.1411774. eCollection 2024.
7
Autoimmune Primary Adrenal Insufficiency in Children.儿童自身免疫性原发性肾上腺功能不全。
J Clin Res Pediatr Endocrinol. 2022 Aug 25;14(3):308-312. doi: 10.4274/jcrpe.galenos.2022.2021-11-9. Epub 2022 May 31.

本文引用的文献

1
Hypoglycaemia in adrenal insufficiency.肾上腺功能不全时的低血糖症。
Front Endocrinol (Lausanne). 2023 Nov 20;14:1198519. doi: 10.3389/fendo.2023.1198519. eCollection 2023.
10
Hyponatremia and Glucocorticoid Deficiency.低钠血症与糖皮质激素缺乏症。
Front Horm Res. 2019;52:80-92. doi: 10.1159/000493239. Epub 2019 Jan 15.

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验