Article
Late-onset apparent mineralocorticoid excess caused by novel compound heterozygous mutations in the HSD11B2 gene.
Hypertension (Dallas, Tex. : 1979) - 1 Aug 2003
Lavery Gareth G, Ronconi Vanessa, Draper Nicole, Rabbitt Elizabeth H, Lyons Val, Chapman Karen E, Walker Elizabeth A, McTernan Claire L, Giacchetti Gilberta, Mantero Franco, Seckl Jonathan R, Edwards Christopher R W, Connell John M C, Hewison Martin, Stewart Paul M
Abstract excerpt
Mutations in the gene encoding 11beta-hydroxysteroid dehydrogenase type 2, 11beta-HSD2 (HSD11B2), explain the molecular basis for the syndrome of apparent mineralocorticoid excess (AME), characterized by severe hypertension and hypokalemic alkalosis. Cortisol is the offending mineralocorticoid in AME, as the result of a lack of 11beta-HSD2-mediated cortisol to cortisone inactivation. In this study, we describe...
Topics
- 11-beta-Hydroxysteroid Dehydrogenase Type 2
- Adolescent
- Adult
- Cell Line
- DNA, Complementary
- Female
- Gene Expression
- Genetic Predisposition to Disease
- Heterozygote