Article
[A case of apparent mineralocorticoid excess caused by type 2 11 beta- hydroxysteroid dehydrogenase deficiency].
Archives des maladies du coeur et des vaisseaux - 1 Aug 1997
Morineau G, Pascoe L, Marc J M, Caillette A, Krozowski Z, Corvol P, Fiet J
Abstract excerpt
The syndrome of apparent mineralocorticoid excess is a recessively inherited form of low renin hypertension. The syndrome is characterised by sodium retention and hypervolemia despite low plasma renin activity and aldosterone levels. Patients with this syndrome have mutations in the 11HSD2 gene w...
Topics
- 11-beta-Hydroxysteroid Dehydrogenases
- Aldosterone
- Child, Preschool
- Cortisone
- Female
- Humans
- Hydroxysteroid Dehydrogenases
- Hypertension
- Kidney Failure, Chronic
- Mineralocorticoids
- Mutation