Article
Renin-aldosterone response, urinary Na/K ratio and growth in pseudohypoaldosteronism patients with mutations in epithelial sodium channel (ENaC) subunit genes.
The Journal of steroid biochemistry and molecular biology - 1 Sept 2008
Hanukoglu Aaron, Edelheit Oded, Shriki Yafit, Gizewska Maria, Dascal Nathan, Hanukoglu Israel
Abstract excerpt
Multi-system pseudohypoaldosteronism (PHA) is a rare syndrome of aldosterone unresponsiveness characterized by symptoms of severe salt-losing caused by mutations in one of the genes that encode alpha, beta or gamma subunit of epithelial sodium channels (ENaC). We examined long-term changes in the renin-aldosterone response in patients with different mutations. Four PHA patients were followed-up for 7-22 years....
Topics
- Adolescent
- Aldosterone
- Child
- Child, Preschool
- Epithelial Sodium Channels
- Growth
- Humans
- Infant
- Mutation
- Potassium
- Protein Subunits