Article
Pseudohypoaldosteronism type 1 due to a novel mutation in the mineralocorticoid receptor gene.
Hormone research in paediatrics - 1 Jan 2010
Loomba-Albrecht Lindsey A, Nagel Mato, Bremer Andrew A
Abstract excerpt
BACKGROUND/AIMS: Autosomal dominant pseudohypoaldosteronism type 1 is caused by mutations in the mineralocorticoid receptor (NR3C2) gene, often leading to life-threatening hyponatremia and hyperkalemia in the newborn period. We report a novel mutation in the NR3C2 gene, and report, for the first time, the association of well-treated pseudohypoaldosteronism with failure to thrive. This report additionally...
Topics
- Failure to Thrive
- Humans
- Hyperkalemia
- Infant
- Infant, Newborn
- Male
- Mutation
- Pseudohypoaldosteronism
- Receptors, Mineralocorticoid