glucocorticoid remediable aldosteronism
Rare genetic form of primary aldosteronism that responds to glucocorticoid suppression, caused by a chimeric gene mutation.
Full Definition
Glucocorticoid remediable aldosteronism (GRA) is a rare autosomal dominant form of primary aldosteronism caused by an unequal crossing-over event creating a chimeric gene between CYP11B1 and CYP11B2. This results in aldosterone synthase activity being placed under ACTH control rather than angiotensin II control. Patients present with early-onset hypertension, hypokalemia, and suppressed renin activity. The hallmark feature is the paradoxical suppression of aldosterone and blood pressure with glucocorticoid administration. Family screening is important as the condition has high penetrance and may present in childhood.
Usage
Usage note: May be abbreviated as GRA; emphasize hereditary nature for family counseling.
In Context
- "The family history and dexamethasone suppressibility suggested glucocorticoid remediable aldosteronism." — Clinical evaluation
- "Genetic testing confirmed the chimeric CYP11B1/CYP11B2 gene fusion diagnostic of glucocorticoid remediable aldosteronism." — Genetic test results