Endocrine Abstracts

Background: Pseudohypoaldosteronism type 1 (PHA1) is a primary form of mineralocorticoid resistance presenting in the newborn with renal salt wasting, failure to thrive and dehydration. Inactivating mutations of the NR3C2 gene, coding for the mineralocorticoid receptor (MR) are responsible for the vast majority of autosomal dominant and sporadic cases of renal PHA1. The underlying pathogenic mechanism involves both haploinsufficiency as well as a dominant negative mecha...