Genetic Diagnosis of Primary Adrenal Insufficiency in Children: A Paradigm Change.
作者信息
Almeida Madson Q
机构信息
Unidade de Suprarrenal, Laboratório de Hormônios e Genética Molecular LIM/42, Divisão de Endocrinologia e Metabologia, Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.
Unidade de Oncologia Endocrinologia, Instituto do Câncer do Estado de São Paulo (ICESP), Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.
出版信息
J Endocr Soc. 2021 Jun 22;5(9):bvab117. doi: 10.1210/jendso/bvab117. eCollection 2021 Sep 1.
Abstract
摘要
相似文献
1
Genetic Diagnosis of Primary Adrenal Insufficiency in Children: A Paradigm Change.儿童原发性肾上腺皮质功能减退症的基因诊断：范式转变
J Endocr Soc. 2021 Jun 22;5(9):bvab117. doi: 10.1210/jendso/bvab117. eCollection 2021 Sep 1.
2
Latest Insights on the Etiology and Management of Primary Adrenal Insufficiency in Children.儿童原发性肾上腺皮质功能减退症病因及管理的最新见解
J Clin Res Pediatr Endocrinol. 2017 Dec 30;9(Suppl 2):9-22. doi: 10.4274/jcrpe.2017.S002. Epub 2017 Dec 27.
3
X-linked adrenoleukodystrophy in patients with idiopathic Addison disease.特发性艾迪生病患者中的X连锁肾上腺脑白质营养不良
Eur J Pediatr. 1994 Aug;153(8):594-7. doi: 10.1007/BF02190668.
4
News about the genetics of congenital primary adrenal insufficiency.先天性原发性肾上腺皮质功能不全的遗传学研究进展。
Ann Endocrinol (Paris). 2018 Jun;79(3):174-181. doi: 10.1016/j.ando.2018.03.016. Epub 2018 Apr 13.
5
SIADH versus adrenal insufficiency: a life-threatening misdiagnosis.抗利尿激素不当分泌综合征与肾上腺皮质功能不全：危及生命的误诊。
Ital J Pediatr. 2019 Feb 6;45(1):23. doi: 10.1186/s13052-019-0614-1.
6
Addison Disease: The First Presentation of the Condition May be at Autopsy.艾迪生病：该病的首次表现可能出现在尸检时。
Acad Forensic Pathol. 2016 Jun;6(2):249-257. doi: 10.23907/2016.026. Epub 2016 Jun 1.
7
[Assessment of autoantibodies against 21-hydroxylase in the diagnosis of primary autoimmune adrenal insufficiency].[检测抗21-羟化酶自身抗体在原发性自身免疫性肾上腺皮质功能减退症诊断中的应用]
Probl Endokrinol (Mosk). 2020 Jun 10;65(6):466-473. doi: 10.14341/probl12106.
8
[Primary adrenal insufficiency in adults: 150 years after Addison].[成人原发性肾上腺皮质功能减退症：艾迪生病发现150年后]
Arq Bras Endocrinol Metabol. 2004 Oct;48(5):724-38. doi: 10.1590/s0004-27302004000500019. Epub 2005 Mar 7.
9
Addison disease: early detection and treatment principles.艾迪生病：早期发现和治疗原则。
Am Fam Physician. 2014 Apr 1;89(7):563-8.
10
Primary adrenal insufficiency caused by a novel mutation in DAX1 gene.由DAX1基因新突变引起的原发性肾上腺皮质功能减退症。
J Clin Res Pediatr Endocrinol. 2013;5(1):55-7. doi: 10.4274/Jcrpe.895.
引用本文的文献
1
Genetics of Primary Adrenal Insufficiency Beyond CAH in Saudi Arabian Population.沙特阿拉伯人群中除先天性肾上腺皮质增生症外的原发性肾上腺皮质功能减退症的遗传学
Mol Genet Genomic Med. 2025 Jan;13(1):e70052. doi: 10.1002/mgg3.70052.
2
Case report: a premature infant with severe intrauterine growth restriction, adrenal insufficiency, and inflammatory diarrhea: a genetically confirmed case of MIRAGE syndrome.病例报告：一例严重宫内生长受限、肾上腺皮质功能不全和炎症性腹泻的早产儿：MIRAGE 综合征的基因确诊病例。
Front Endocrinol (Lausanne). 2023 Sep 6;14:1242387. doi: 10.3389/fendo.2023.1242387. eCollection 2023.
3
Addison's Disease: Diagnosis and Management Strategies.艾迪生病：诊断与管理策略
Int J Gen Med. 2023 Jun 2;16:2187-2210. doi: 10.2147/IJGM.S390793. eCollection 2023.
本文引用的文献
1
Genetic Analysis of Pediatric Primary Adrenal Insufficiency of Unknown Etiology: 25 Years' Experience in the UK.不明病因儿童原发性肾上腺皮质功能减退症的遗传学分析：英国25年经验
J Endocr Soc. 2021 May 11;5(8):bvab086. doi: 10.1210/jendso/bvab086. eCollection 2021 Aug 1.
2
Primary adrenal insufficiency: New genetic causes and their long-term consequences.原发性肾上腺皮质功能不全：新的遗传病因及其长期后果。
Clin Endocrinol (Oxf). 2020 Jan;92(1):11-20. doi: 10.1111/cen.14109. Epub 2019 Oct 30.
3
Positive Impact of Genetic Test on the Management and Outcome of Patients With Paraganglioma and/or Pheochromocytoma.遗传检测对副神经节瘤和/或嗜铬细胞瘤患者的管理和结局的积极影响。
J Clin Endocrinol Metab. 2019 Apr 1;104(4):1109-1118. doi: 10.1210/jc.2018-02411.
4
MECHANISMS IN ENDOCRINOLOGY: Update on pathogenesis of primary adrenal insufficiency: beyond steroid enzyme deficiency and autoimmune adrenal destruction.内分泌学机制：原发性肾上腺功能不全发病机制的更新：超越类固醇酶缺乏和自身免疫性肾上腺破坏。
Eur J Endocrinol. 2017 Sep;177(3):R99-R111. doi: 10.1530/EJE-17-0128. Epub 2017 Apr 27.
5
Disorders in the initial steps of steroid hormone synthesis.类固醇激素合成初始步骤中的紊乱。
J Steroid Biochem Mol Biol. 2017 Jan;165(Pt A):18-37. doi: 10.1016/j.jsbmb.2016.03.009. Epub 2016 Mar 6.
6
Diagnosis and Treatment of Primary Adrenal Insufficiency: An Endocrine Society Clinical Practice Guideline.原发性肾上腺皮质功能减退症的诊断与治疗：内分泌学会临床实践指南
J Clin Endocrinol Metab. 2016 Feb;101(2):364-89. doi: 10.1210/jc.2015-1710. Epub 2016 Jan 13.
7
Rare Causes of Primary Adrenal Insufficiency: Genetic and Clinical Characterization of a Large Nationwide Cohort.原发性肾上腺皮质功能减退的罕见病因：全国大型队列的遗传学与临床特征分析
J Clin Endocrinol Metab. 2016 Jan;101(1):284-92. doi: 10.1210/jc.2015-3250. Epub 2015 Nov 2.
8
Analysis of DAX1 (NR0B1) and steroidogenic factor-1 (NR5A1) in children and adults with primary adrenal failure: ten years' experience.原发性肾上腺功能不全儿童和成人中DAX1（NR0B1）和类固醇生成因子-1（NR5A1）的分析：十年经验
J Clin Endocrinol Metab. 2006 Aug;91(8):3048-54. doi: 10.1210/jc.2006-0603. Epub 2006 May 9.
Zotero 插件