Child Kidney Dis.  2020 Apr;24(1):58-61. 10.3339/jkspn.2020.24.1.58.

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

• Kim YM
• Choi IS
• Cheong HI
• Kim CJ
• Yang EM

• KMID: 2500363
• DOI: http://doi.org/10.3339/jkspn.2020.24.1.58

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 recessive 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; however, 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.

Keyword

Pseudohypoaldosteronism; Mineralocorticoid receptors; NR3C2 gene; Hyponatremia; Hyperkalemia