Article
Association between a variant in the 11 beta-hydroxysteroid dehydrogenase type 2 gene and primary hypertension.
Journal of human hypertension - 1 Dec 2000
Melander O, Orho-Melander M, Bengtsson K, Lindblad U, Råstam L, Groop L, Hulthén U L
Abstract excerpt
The enzyme 11 beta-hydroxysteroid dehydrogenase type 2 (11BHSD2) converts cortisol to cortisone in the kidney, thereby protecting the mineralocorticoid receptor from the mineralocorticoid actions of cortisol. The syndrome of Apparent Mineralocorticoid Excess (AME), a rare monogenic form of early onset hypertension with autosomal recessive inheritance, is caused by homozygous or compound heterozygous loss of...
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