Adrenal insufficiency and the use of mineralocorticoid treatment in male patients with adrenoleukodystrophy; a retrospective analysis of an institutional database

IF 2.8 3区医学 Q3 ENDOCRINOLOGY & METABOLISM

BMC Endocrine Disorders Pub Date : 2024-09-09 DOI:10.1186/s12902-024-01712-3

Kidmealem L Zekarias, Michael Salim, Katelyn M Tessier, Angela Radulescu

{"title":"Adrenal insufficiency and the use of mineralocorticoid treatment in male patients with adrenoleukodystrophy; a retrospective analysis of an institutional database","authors":"Kidmealem L Zekarias, Michael Salim, Katelyn M Tessier, Angela Radulescu","doi":"10.1186/s12902-024-01712-3","DOIUrl":null,"url":null,"abstract":"Adrenoleukodystrophy (ALD) patients exhibit three primary clinical phenotypes: primary adrenal insufficiency, adrenomyeloneuropathy, and cerebral demyelination due to the accumulation of saturated very long-chain fatty acids in the adrenal cortex and central nervous system white matter and axons. We investigated the diagnosis of adrenal insufficiency (AI) and the use of mineralocorticoid treatment in male ALD patients. A retrospective chart review of electronic medical records was conducted for all ALD patients at a single institution between January 1, 2011, and December 6, 2021. Among the 437 ALD patients, 82% were male and 18% were female. Of the male ALD patients, 60% (213 out of 358) had a diagnosis of AI, and 39% (84 out of 213) of those with AI were prescribed mineralocorticoid replacement therapy. AI is highly prevalent among ALD patients, with approximately 40% of those with a diagnosis of AI undergoing mineralocorticoid replacement therapy. Further research is warranted to delineate the characteristics of patients predisposed to developing mineralocorticoid deficiency within the context of ALD and AI.","PeriodicalId":9152,"journal":{"name":"BMC Endocrine Disorders","volume":"12 1","pages":""},"PeriodicalIF":2.8000,"publicationDate":"2024-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"BMC Endocrine Disorders","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1186/s12902-024-01712-3","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"ENDOCRINOLOGY & METABOLISM","Score":null,"Total":0}

引用次数: 0

Abstract

Adrenoleukodystrophy (ALD) patients exhibit three primary clinical phenotypes: primary adrenal insufficiency, adrenomyeloneuropathy, and cerebral demyelination due to the accumulation of saturated very long-chain fatty acids in the adrenal cortex and central nervous system white matter and axons. We investigated the diagnosis of adrenal insufficiency (AI) and the use of mineralocorticoid treatment in male ALD patients. A retrospective chart review of electronic medical records was conducted for all ALD patients at a single institution between January 1, 2011, and December 6, 2021. Among the 437 ALD patients, 82% were male and 18% were female. Of the male ALD patients, 60% (213 out of 358) had a diagnosis of AI, and 39% (84 out of 213) of those with AI were prescribed mineralocorticoid replacement therapy. AI is highly prevalent among ALD patients, with approximately 40% of those with a diagnosis of AI undergoing mineralocorticoid replacement therapy. Further research is warranted to delineate the characteristics of patients predisposed to developing mineralocorticoid deficiency within the context of ALD and AI.

查看原文本刊更多论文

肾上腺白质营养不良症男性患者的肾上腺功能不全和使用矿物质皮质激素治疗；对机构数据库的回顾性分析

肾上腺白质营养不良症（ALD）患者表现出三种主要临床表型：原发性肾上腺功能不全、肾上腺肌神经病以及因饱和超长链脂肪酸在肾上腺皮质、中枢神经系统白质和轴突中蓄积而导致的脑脱髓鞘。我们调查了男性 ALD 患者肾上腺功能不全（AI）的诊断和矿物质皮质激素治疗的使用情况。我们对一家医疗机构 2011 年 1 月 1 日至 2021 年 12 月 6 日期间所有 ALD 患者的电子病历进行了回顾性病历审查。在 437 名 ALD 患者中，82% 为男性，18% 为女性。在男性 ALD 患者中，60%（358 人中有 213 人）确诊为 AI，39%（213 人中有 84 人）的 AI 患者接受了矿物皮质激素替代治疗。AI在ALD患者中发病率很高，在确诊为AI的患者中约有40%接受了矿质皮质激素替代治疗。有必要开展进一步研究，以确定在 ALD 和 AI 的背景下易患矿质皮质激素缺乏症的患者的特征。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

求助全文

约1分钟内获得全文求助全文

来源期刊

BMC Endocrine Disorders ENDOCRINOLOGY & METABOLISM-

CiteScore

4.40

自引率

0.00%

发文量

280

审稿时长

>12 weeks

期刊介绍： BMC Endocrine Disorders is an open access, peer-reviewed journal that considers articles on all aspects of the prevention, diagnosis and management of endocrine disorders, as well as related molecular genetics, pathophysiology, and epidemiology.