{"title":"Glucocorticoid Remediable Aldosteronism in a Family with a Strong History of Cerebral Aneurysms and Hypertension.","authors":"Jan Zeman, Crystal Kamilaris","doi":"10.14712/23362936.2025.23","DOIUrl":null,"url":null,"abstract":"<p><p>Glucocorticoid remediable aldosteronism (GRA) also known as familial hyperaldosteronism type 1 (FH1) is a rare genetic form of primary aldosteronism characterized by aldosterone overproduction regulated by adrenocorticotropic hormone (ACTH). We present the case of a 54-year-old woman with severe hypertension and hypokalemia. Genetic testing confirmed GRA by identifying a chimeric gene involving CYP11B1 and CYP11B2. This case highlights the importance of considering GRA in patients with resistant hypertension and a family history of cerebral aneurysms. Management involved glucocorticoid therapy and mineralocorticoid receptor antagonists, leading to significant improvement in blood pressure control.</p>","PeriodicalId":35490,"journal":{"name":"Prague medical report","volume":"126 3","pages":"151-154"},"PeriodicalIF":0.0000,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Prague medical report","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.14712/23362936.2025.23","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"Biochemistry, Genetics and Molecular Biology","Score":null,"Total":0}
引用次数: 0
Abstract
Glucocorticoid remediable aldosteronism (GRA) also known as familial hyperaldosteronism type 1 (FH1) is a rare genetic form of primary aldosteronism characterized by aldosterone overproduction regulated by adrenocorticotropic hormone (ACTH). We present the case of a 54-year-old woman with severe hypertension and hypokalemia. Genetic testing confirmed GRA by identifying a chimeric gene involving CYP11B1 and CYP11B2. This case highlights the importance of considering GRA in patients with resistant hypertension and a family history of cerebral aneurysms. Management involved glucocorticoid therapy and mineralocorticoid receptor antagonists, leading to significant improvement in blood pressure control.