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

Jan Zeman, Crystal Kamilaris

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

Číslo: 3/2025
Periodikum: Prague Medical Report
DOI: 10.14712/23362936.2025.23

Klíčová slova: Glucocorticoid remediable aldosteronism, Familial hyperaldosteronism type 1, Primary aldosteronism, Hypertension, Cerebral aneurysm, Genetic testing, Mineralocorticoid receptor antagonist

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Anotace: 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.