Article
Apparent Mineralocorticoid Excess by a Novel Mutation and Epigenetic Modulation by HSD11B2 Promoter Methylation.
The Journal of clinical endocrinology and metabolism - 1 Sept 2015
Pizzolo Francesca, Friso Simonetta, Morandini Francesca, Antoniazzi Franco, Zaltron Chiara, Udali Silvia, Gandini Alberto, Cavarzere Paolo, Salvagno Gianluca, Giorgetti Alejandro, Speziali Giulia, Choi Sang-Woon, Olivieri Oliviero
Abstract excerpt
CONTEXT: Apparent mineralocorticoid excess (AME) is a rare autosomal recessive disease resulting from mutations within the hydroxysteroid (11β-dehydrogenase2 [HSD11B2]) gene causing a prominent mineralocorticoid receptor activation by cortisol and hypokalemic low renin hypertension as the main clinical feature. OBJECTIVE: The objective of the study was to characterize AME for possible novel HSD11B2 mutations and...
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