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Glucocorticoid-Remediable Aldosteronism

1994; Elsevier BV; Volume: 23; Issue: 2 Linguagem: Inglês

10.1016/s0889-8529(18)30098-7

1558-4410

Robert G. Dluhy, Richard P. Lifton,

Ion Transport and Channel Regulation

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 11β-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.