Glucocorticoid-remediable aldosteronism.
Glucocorticoid-remediable aldosteronism (GRA) is an autosomal-dominant form of human hypertension. In GRA in which aldosterone secretion is positively and solely regulated by ACTH, glucocorticoid administration relieves this mineralocorticoid excess syndrome. Recent studies demonstrate that GRA is caused by a gene duplication fusing regulatory sequences of the steroid 11 beta-hydroxylase gene to the coding sequences of the aldosterone synthase gene. This gene mutation, which results in ectopic expression of aldosterone synthase activity in the zona fasciculata, provides the basis for a simple, direct genetic test for GRA from a small sample of peripheral blood.
Dluhy
R G
RG
Department of Medicine, Brigham and Women's Hospital, Boston, Massachusetts.
Lifton
R P
RP
D000450:Aldosterone / Q000096:biosynthesis; D006801:Humans; D006929:Hyperaldosteronism / Q000150:complications / Q000235:genetics* / Q000503:physiopathology*; D006973:Hypertension / Q000209:etiology; D009154:Mutation
D000450:Aldosterone