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

ABSTRACT

Pseudohypoaldosteronism type 1 (PHA1) is a rare salt-wasting disorder caused byresistance to mineralocorticoid action. PHA1 is of two types with different levelsof disease severity and phenotype as follows systemic type with an autosomalrecessiveinheritance (caused by mutations of the epithelial sodium channel)and renal type with an autosomal dominant inheritance (caused by mutations inthe mineralocorticoid receptor). The clinical manifestations of PHA1 vary widely;however,PHA1 commonly involves hyponatremia, hyperkalemia, metabolicacidosis and elevated levels of renin and aldosterone. The earliest signs of bothtype of PAH1 also comprise insufficiency weight gain due to chronic dehydrationand failure to thrive during infancy. Here, we report a case of renal PAH1 in a28-day-old male infant harboring a novel heterozygous mutation in NR3C2 gene(c.1341_1345dupAAACC in exon 2), showing only failure to thrive without thecharacteristic of dehydration.