Korean J Pediatr.  2011 Feb;54(2):90-93. 10.3345/kjp.2011.54.2.90.

A case of pseudohypoaldosteronism type 1 with a mutation in the mineralocorticoid receptor gene

Affiliations
  • 1Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea. cheonghi@snu.ac.kr
  • 2Research Center for Rare Diseases, Seoul National University Hospital, Seoul, Korea.
  • 3Kidney Research Institute, Medical Research Center, Seoul National University College of Medicine, Seoul, Korea.
  • 4Department of Pediatrics, Inje University Haeundae Paik Hospital, Busan, Korea.

Abstract

Pseudohypoaldosteronism type 1 (PHA1) is a rare form of mineralocorticoid resistance characterized in newborns by salt wasting with dehydration, hyperkalemia and failure to thrive. This disease is heterogeneous in etiology and includes autosomal dominant PHA1 owing to mutations of the NR3C2 gene encoding the mineralocorticoid receptor, autosomal recessive PHA1 due to mutations of the epithelial sodium channel (ENaC) gene, and secondary PHA1 associated with urinary tract diseases. Amongst these diseases, autosomal dominant PHA1 shows has manifestations restricted to renal tubules including a mild salt loss during infancy and that shows a gradual improvement with advancing age. Here, we report a neonatal case of PHA1 with a NR3C2 gene mutation (a heterozygous c.2146_2147insG in exon 5), in which the patient showed failure to thrive, hyponatremia, hyperkalemia, and elevated plasma renin and aldosterone levels. This is the first case of pseudohypoaldosteronism type 1 confirmed by genetic analysis in Korea.

Keyword

Pseudohypoaldosteronism; Mineralocorticoid; Receptor; NR3C2 gene; Infant

MeSH Terms

Aldosterone
Dehydration
Epithelial Sodium Channels
Exons
Failure to Thrive
Humans
Hyperkalemia
Hyponatremia
Infant
Infant, Newborn
Korea
Plasma
Pseudohypoaldosteronism
Receptors, Mineralocorticoid
Renin
Urologic Diseases
Aldosterone
Epithelial Sodium Channels
Receptors, Mineralocorticoid
Renin
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