Glucocorticoid Remediable Aldosteronism: Report of a Family Pedigree and Review of the Literature

Abstract

Glucocorticoid remediable aldosteronism (GRA) is an autosomal dominant form of primary aldosteronism and hypertension. GRA results from a chimaeric llß-hydroxylase/ aldosterone synthase gene and results in refractory hypertension and a high mortality from cerebrovascular events at a young age. We report a family pedigree with GRA, discovered following presentation of the 13 year-old index patient with hypertension. We have documented GRA in 12 members and have evidence of dexamethasone suppressible hypertension, primary aldosteronism or refractory hypertension across four generations. The family has a dramatic history of early cardiovascular/ cerebrovascular deaths. All described patients have responded to treatment with amiloride. Our report highlights the importance of screening for GRA in patients with refractory hypertension or hypertension at a young age. This family pedigree provides an informative picture of GRA over four generations and more than 100 years of one family, demonstrating the severe morbidity and mortality associated with this disease.