title: Variation of phenotype in patients with glucocorticoid remediable aldosteronism.
abstract: Glucocorticoid remediable aldosteronism (GRA), an autosomal dominant cause of primary aldosteronism, has been described as resulting in severe hypertension with premature death from stroke. We describe two new large pedigrees which include subjects who have the abnormal chimaeric gene strongly linked to GRA. The majority of affected members, who have only mild hypertension and normal biochemistry, are clinically indistinguishable from patients with essential hypertension. It is therefore likely that this condition is underdiagnosed.
authors.affiliation: Department of Medicine and Therapeutics, University of Aberdeen, UK.
authors.forename: L J
authors.initials: LJ
authors.lastname: Gates
authors.forename: A A
authors.initials: AA
authors.lastname: MacConnachie
authors.forename: R P
authors.initials: RP
authors.lastname: Lifton
authors.forename: N E
authors.initials: NE
authors.lastname: Haites
authors.forename: N
authors.initials: N
authors.lastname: Benjamin
mesh_terms: D000328:Adult; D019405:Cytochrome P-450 CYP11B2 / Q000235:genetics*; D005260:Female; D014644:Genetic Variation; D005938:Glucocorticoids; D006801:Humans; D006929:Hyperaldosteronism / Q000235:genetics* / Q000503:physiopathology / Q000628:therapy; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010641:Phenotype; D013252:Steroid 11-beta-Hydroxylase / Q000235:genetics*
chemical_list: D005938:Glucocorticoids; D019405:Cytochrome P-450 CYP11B2; D013252:Steroid 11-beta-Hydroxylase