In vitro expression studies of a novel mutation delta299 in a patient affected with apparent mineralocorticoid excess.

Abstract excerpt

Apparent mineralocorticoid excess syndrome (AME) is an autosomal recessive disorder that results in low renin hypertension and other characteristic clinical features. Typical patients present with severe hypertension, hypokalemia, and undetectable aldosterone. Most patients also have low birth weight, failure to thrive, and nephrocalcinosis. The 11betahydroxysteroid dehydrogenase type 2 (11betaHSD2) defect is...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to CHO Cells
• Share to Clinical Laboratory Techniques