title: Glucocorticoid-remediable aldosteronism.
abstract: Glucocorticoid-remediable aldosteronism (GRA) is a hereditary form of primary hyperaldosteronism and the most common monogenic cause of hypertension. A chimeric gene duplication leads to ectopic aldosterone synthase activity in the cortisol-producing zona fasciculata of the adrenal cortex, under the regulation of adrenocorticotropin (ACTH). Hypertension typically develops in childhood, and may be refractory to standard therapies. Hypokalemia is uncommon in the absence of treatment with diuretics. The discovery of the genetic basis of the disorder has permitted the development of accurate diagnostic testing. Glucocorticoid suppression of ACTH is the mainstay of treatment; alternative treatments include mineralocorticoid receptor antagonists.
authors.affiliation: Division of Endocrinology, Diabetes and Hypertension, Harvard Medical School, Brigham and Women's Hospital, 221 Longwood Avenue, Boston, MA 02115, USA.
authors.forename: Florencia
authors.initials: F
authors.lastname: Halperin
authors.forename: Robert G
authors.initials: RG
authors.lastname: Dluhy
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D046528:Chimerism; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics; D003434:Crossing Over, Genetic; D019405:Cytochrome P-450 CYP11B2 / Q000235:genetics / Q000378:metabolism; D003907:Dexamethasone / Q000627:therapeutic use*; D020440:Gene Duplication; D005820:Genetic Testing; D005938:Glucocorticoids / Q000627:therapeutic use*; D006801:Humans; D006929:Hyperaldosteronism / Q000175:diagnosis / Q000188:drug therapy* / Q000235:genetics* / Q000503:physiopathology; D006973:Hypertension / Q000209:etiology; D007008:Hypokalemia / Q000209:etiology; D000451:Mineralocorticoid Receptor Antagonists; D015995:Prevalence; D013252:Steroid 11-beta-Hydroxylase / Q000235:genetics / Q000378:metabolism
chemical_list: D005938:Glucocorticoids; D000451:Mineralocorticoid Receptor Antagonists; D003907:Dexamethasone; D019405:Cytochrome P-450 CYP11B2; D013252:Steroid 11-beta-Hydroxylase