Article
Aldosterone synthase deficiency and related disorders.
Molecular and cellular endocrinology - 31 Mar 2004
White Perrin C
Abstract excerpt
Aldosterone's main actions are to regulate intravascular volume and serum electrolytes by controlling sodium absorbtion and potassium excretion in the distal nephron. Inherited defects in aldosterone biosynthesis thus cause hypovolemia, hyponatremia and hyperkalemia. Defective aldosterone biosynthesis may be caused by congenital adrenal hyperplasia due to 21-hydroxylase (CYP21) deficiency, in which case cortisol...
Topics
- Adrenal Hyperplasia, Congenital
- Aldosterone
- Cortisone
- Cytochrome P-450 CYP11B2
- Exons
- Humans
- Hyperkalemia
- Hypoaldosteronism
- Hyponatremia
- Hypovolemia
- Mutation
- Steroid 21-Hydroxylase