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儿童非先天性肾上腺皮质增生症原发性肾上腺皮质功能不全的病因与诊断

The Causes and Diagnosis of Non-congenital Adrenal Hyperplasia Primary Adrenal Insufficiency in Children.

作者信息

Atar Müge, Akın Leyla

机构信息

Antalya Training and Research Hospital, Clinic of Pediatric Endocrinology, Antalya, Turkey

Ondokuz Mayıs University Faculty of Medicine, Department of Pediatric Endocrinology, Samsun, Turkey

出版信息

J Clin Res Pediatr Endocrinol. 2025 Jan 10;17(Suppl 1):66-71. doi: 10.4274/jcrpe.galenos.2024.2024-6-24-S. Epub 2024 Dec 23.

Abstract

Primary adrenal insufficiency (PAI) is a critical condition that requires prompt diagnosis and initiation of treatment. Diagnosis can be challenging due to various underlying causes, including defects in adrenal gland development, resistance to adrenocorticotropic hormone, autoimmune causes, and metabolic problems. A specific diagnosis is essential for developing a treatment plan and identifying other possible accompanying pathologies. Biochemical studies, genetic analyses, and imaging techniques are helpful in establishing a specific diagnosis. This evidence-based guideline includes the specific diagnoses that cause PAI and their clinical and genetic features. It also provides evidence-based steps to follow when making a diagnosis.

摘要

原发性肾上腺皮质功能减退症(PAI)是一种危急病症,需要迅速诊断并开始治疗。由于多种潜在病因,包括肾上腺发育缺陷、对促肾上腺皮质激素的抵抗、自身免疫性病因和代谢问题,诊断可能具有挑战性。明确诊断对于制定治疗计划和识别其他可能伴随的病理情况至关重要。生化研究、基因分析和影像学技术有助于做出明确诊断。本循证指南包括导致PAI的具体诊断及其临床和遗传特征。它还提供了诊断时应遵循的循证步骤。

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本文引用的文献

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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.
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Genomic Diagnosis for Pediatric Disorders: Revolution and Evolution.儿童疾病的基因组诊断:变革与演进
Front Pediatr. 2020 Jul 8;8:373. doi: 10.3389/fped.2020.00373. eCollection 2020.
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Primary adrenal insufficiency in children: Diagnosis and management.儿童原发性肾上腺皮质功能减退症:诊断与治疗。
Best Pract Res Clin Endocrinol Metab. 2018 Aug;32(4):397-424. doi: 10.1016/j.beem.2018.05.010. Epub 2018 Jun 6.

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