Abnormalities of aldosterone synthesis and action in children.
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 11 beta-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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UT Southwestern Medical Center, Dallas, TX 75235-9063, USA.
D000312:Adrenal Hyperplasia, Congenital / Q000150:complications / Q000235:genetics*; D002648:Child; D019405:Cytochrome P-450 CYP11B2 / Q000172:deficiency*; D006801:Humans; D006929:Hyperaldosteronism / Q000150:complications / Q000235:genetics*; D006994:Hypoaldosteronism / Q000150:complications / Q000235:genetics*; D009154:Mutation / Q000235:genetics; D011546:Pseudohypoaldosteronism / Q000150:complications / Q000235:genetics*; D014883:Water-Electrolyte Imbalance / Q000209:etiology
D019405:Cytochrome P-450 CYP11B2