{"title":"糖皮质激素可治疗的醛固酮增多症家族与强烈的脑动脉瘤和高血压病史。","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":"{\"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}","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}
Glucocorticoid Remediable Aldosteronism in a Family with a Strong History of Cerebral Aneurysms and Hypertension.
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.
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