Article
Molecular basis for hypertension in the "type II variant" of apparent mineralocorticoid excess.
American journal of human genetics - 1 Aug 1998
Li A, Tedde R, Krozowski Z S, Pala A, Li K X, Shackleton C H, Mantero F, Palermo M, Stewart P M
Abstract excerpt
The syndrome of apparent mineralocorticoid excess (AME) is a heritable form of hypertension in which cortisol acts as a potent mineralocorticoid. The type I variant results in a severe clinical and biochemical phenotype and arises because of mutations in the gene encoding the type 2 isozyme of 11beta-hydroxysteroid dehydrogenase (11beta-HSD2), an enzyme responsible for the peripheral inactivation of cortisol to...
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