Abnormalities of aldosterone synthesis and action in children.

Abstract excerpt

Genetic defects in aldosterone biosynthesis and action affect blood pressure and electrolyte homeostasis. Aldosterone synthase deficiency, salt-wasting forms of congenital adrenal hyperplasia, and adrenal hypoplasia congenita all cause aldosterone deficiency, signs of which include hyponatremia,...

Topics

• Adrenal Hyperplasia, Congenital
• Child
• Cytochrome P-450 CYP11B2
• Humans
• Hyperaldosteronism
• Hypoaldosteronism
• Mutation
• Pseudohypoaldosteronism
• Water-Electrolyte Imbalance