Abstract
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, hyperkalemia, hypovolemia, elevated plasma renin activity, and sometimes shock and death. Conversely, the inappropriate regulation of aldosterone synthesis seen in glucocorticoid-suppressible hyperaldosteronism may cause hypokalemia, suppressed plasma renin activity, and hypertension. Similar problems occur when the normal ligand specificity of the aldosterone receptor is lost, as in the syndrome of apparent mineralocorticoid excess due to 11β-hydroxysteroid dehydrogenase deficiency. The effects of aldosterone are mediated largely through activation of the epithelial sodium channel, and inactivating or activating mutations of this channel leads to signs of mineralocorticoid deficiency or excess, termed pseudohypoaldosteronism and Liddle's syndrome, respectively.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 424-430 |
| Number of pages | 7 |
| Journal | Current Opinion in Pediatrics |
| Volume | 9 |
| Issue number | 4 |
| State | Published - 1997 |
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ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
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Abnormalities of aldosterone synthesis and action in children. / White, Perrin C.
In: Current Opinion in Pediatrics, Vol. 9, No. 4, 1997, p. 424-430.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Abnormalities of aldosterone synthesis and action in children
AU - White, Perrin C.
PY - 1997
Y1 - 1997
N2 - 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, hyperkalemia, hypovolemia, elevated plasma renin activity, and sometimes shock and death. Conversely, the inappropriate regulation of aldosterone synthesis seen in glucocorticoid-suppressible hyperaldosteronism may cause hypokalemia, suppressed plasma renin activity, and hypertension. Similar problems occur when the normal ligand specificity of the aldosterone receptor is lost, as in the syndrome of apparent mineralocorticoid excess due to 11β-hydroxysteroid dehydrogenase deficiency. The effects of aldosterone are mediated largely through activation of the epithelial sodium channel, and inactivating or activating mutations of this channel leads to signs of mineralocorticoid deficiency or excess, termed pseudohypoaldosteronism and Liddle's syndrome, respectively.
AB - 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, hyperkalemia, hypovolemia, elevated plasma renin activity, and sometimes shock and death. Conversely, the inappropriate regulation of aldosterone synthesis seen in glucocorticoid-suppressible hyperaldosteronism may cause hypokalemia, suppressed plasma renin activity, and hypertension. Similar problems occur when the normal ligand specificity of the aldosterone receptor is lost, as in the syndrome of apparent mineralocorticoid excess due to 11β-hydroxysteroid dehydrogenase deficiency. The effects of aldosterone are mediated largely through activation of the epithelial sodium channel, and inactivating or activating mutations of this channel leads to signs of mineralocorticoid deficiency or excess, termed pseudohypoaldosteronism and Liddle's syndrome, respectively.
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M3 - Article
VL - 9
SP - 424
EP - 430
JO - Current Opinion in Pediatrics
JF - Current Opinion in Pediatrics
SN - 1040-8703
IS - 4
ER -