Pseudohypoaldosteronism Type 1 with a Novel Mutation in the NR3C2 Gene: A Case Report

Abstract

Pseudohypoaldosteronism type 1 (PHA1) is a rare salt-wasting disorder caused by resistance to mineralocorticoid action. PHA1 is of two types with different levels of disease severity and phenotype as follows: systemic type with an autosomal re cessive inheritance (caused by mutations of the epithelial sodium channel) and renal type with an autosomal dominant inheritance (caused by mutations in the mineralocorticoid receptor). The clinical manifestations of PHA1 vary widely; how ever, PHA1 commonly involves hyponatremia, hyperkalemia, metabolic acidosis and elevated levels of renin and aldosterone. The earliest signs of both type of PAH1 also comprise insufficiency weight gain due to chronic dehydration and failure to thrive during infancy. Here, we report a case of renal PAH1 in a 28-day-old male infant harboring a novel heterozygous mutation in NR3C2 gene (c.1341_1345dupAAACC in exon 2), showing only failure to thrive without the characteristic of dehydration.

A Neonate with Autosomal Dominant Pseudohypoaldosteronism Type 1 Due to a Novel Microdeletion of the NR3C2 Gene at 4q31.23

“…ADPHA1 (OMIM #177735) is caused by inactivating mutations in the NR3C2 gene, which encodes the mineralocorticoid receptor and was first reported by Geller et al in 1998 [ 3 ]. It is characterized by isolated renal resistance to mineralocorticoids, leading to renal salt-wasting, dehydration, and failure to thrive during infancy [ 4 , 8 , 9 ]. Although most patients with ADPHA1 show a milder clinical course than ARPHA1, it has been reported to be associated with a high infant mortality rate [ 4 ].…”