Glucocorticoid Remediable Aldosteronism in a Family with a Strong History of Cerebral Aneurysms and Hypertension.

Q4 Biochemistry, Genetics and Molecular Biology
Jan Zeman, Crystal Kamilaris
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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.

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。
糖皮质激素可补救性醛固酮增多症(GRA)也称为家族性高醛固酮增多症1型(FH1),是一种罕见的原发性醛固酮增多症,其特征是醛固酮分泌过多,受促肾上腺皮质激素(ACTH)调节。我们提出的情况下,54岁的妇女严重高血压和低钾血症。基因检测通过鉴定涉及CYP11B1和CYP11B2的嵌合基因证实了GRA。本病例强调了在顽固性高血压和有脑动脉瘤家族史的患者中考虑GRA的重要性。治疗包括糖皮质激素治疗和矿物皮质激素受体拮抗剂,导致血压控制显著改善。
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来源期刊
Prague medical report
Prague medical report Medicine-Medicine (all)
CiteScore
1.10
自引率
0.00%
发文量
19
审稿时长
20 weeks
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