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Apparent mineralocorticoid excess: comprehensive overview of molecular genetics.醛固酮增多症:分子遗传学的综合概述。
J Transl Med. 2022 Nov 3;20(1):500. doi: 10.1186/s12967-022-03698-9.
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Adrenocortical carcinoma and a sporadic MEN1 mutation in a 3-year-old girl: a case report.一名3岁女孩患肾上腺皮质癌并伴有散发性多发性内分泌腺瘤1型基因突变:病例报告
Ann Pediatr Endocrinol Metab. 2022 Dec;27(4):315-319. doi: 10.6065/apem.2142100.050. Epub 2022 Jan 17.
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Diverse etiologies, diagnostic approach, and management of primary adrenal insufficiency in pediatric age.儿童期原发性肾上腺皮质功能减退症的多种病因、诊断方法及管理
Ann Pediatr Endocrinol Metab. 2021 Sep;26(3):149-157. doi: 10.6065/apem.2142150.075. Epub 2021 Sep 30.
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Two cases of 17α-hydroxylase/17,20-lyase deficiency caused by the CYP17A1 mutation.两例由CYP17A1突变引起的17α-羟化酶/17,20-裂解酶缺乏症病例。
Ann Pediatr Endocrinol Metab. 2021 Mar;26(1):66-70. doi: 10.6065/apem.2040184.092. Epub 2021 Mar 31.
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与肾上腺相关的小儿内分泌性高血压

Pediatric Endocrine Hypertension Related to the Adrenal Glands.

作者信息

Kim Hwa Young, Kim Jaehyun

机构信息

Department of Pediatrics, Seoul National University Bundang Hospital, Seongnam, Korea.

Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea.

出版信息

Ewha Med J. 2023 Dec;46(Suppl 1):e30. doi: 10.12771/emj.2023.e30. Epub 2023 Dec 31.

DOI:10.12771/emj.2023.e30
PMID:40703218
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12093568/
Abstract

Endocrine causes of pediatric hypertension are relatively rare but important because of their distinct treatment options. Adrenal diseases accompanied by an excess of mineralocorticoids, glucocorticoids, and catecholamines are major causes of endocrine hypertension. Typical causes of mineralocorticoid-related hypertension include primary aldosteronism, congenital adrenal hyperplasia (11β- and 17α-hydroxylase deficiencies), and apparent mineralocorticoid excess. Cushing syndrome and pheochromocytoma/paraganglioma are the primary causes of glucocorticoid- and catecholamine-related hypertension, respectively. This review provides an overview of the diagnostic evaluations, including hormonal assays and imaging studies, used to identify the underlying causes of pediatric endocrine hypertension, focusing on adrenal disorders. It presents details regarding the major adrenal disorders and recommended therapeutic approaches, emphasizing the importance of early detection and disease-specific management to prevent cardiovascular and metabolic complications in affected children.

摘要

儿童高血压的内分泌病因相对少见,但因其独特的治疗方案而很重要。伴有盐皮质激素、糖皮质激素和儿茶酚胺过多的肾上腺疾病是内分泌性高血压的主要病因。与盐皮质激素相关的高血压的典型病因包括原发性醛固酮增多症、先天性肾上腺增生(11β-和17α-羟化酶缺乏)以及表观盐皮质激素过多。库欣综合征和嗜铬细胞瘤/副神经节瘤分别是与糖皮质激素和儿茶酚胺相关的高血压的主要病因。本综述概述了用于识别儿童内分泌性高血压潜在病因的诊断评估方法,包括激素检测和影像学检查,重点关注肾上腺疾病。它介绍了主要肾上腺疾病的详细情况以及推荐的治疗方法,强调早期检测和针对疾病的管理对于预防患病儿童心血管和代谢并发症的重要性。