Aldosterone synthase deficiency and related disorders.
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 biosynthesis is also affected, or as an isolated defect termed aldosterone synthase (corticosterone methyloxidase, CYP11B2) deficiency. Many mutations have been documented in each of these genes; in general enzymatic activity must be reduced to <1% of normal for aldosterone biosynthesis to be impaired. An additional form of familial hyperreninemic hypoaldosteronism has been described that is not due to mutations in CYP11B2, but its etiology remains to be elucidated.
White
Perrin C
PC
Department of Pediatrics, University of Texas Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, TX 75390-9063, USA. perrin.white@utsouthwestern.edu
D000312:Adrenal Hyperplasia, Congenital / Q000209:etiology / Q000235:genetics / Q000378:metabolism*; D000450:Aldosterone / Q000378:metabolism; D003348:Cortisone / Q000378:metabolism; D019405:Cytochrome P-450 CYP11B2 / Q000172:deficiency* / Q000235:genetics; D005091:Exons / Q000235:genetics; D006801:Humans; D006947:Hyperkalemia / Q000209:etiology / Q000235:genetics / Q000378:metabolism*; D006994:Hypoaldosteronism / Q000209:etiology / Q000235:genetics / Q000378:metabolism*; D007010:Hyponatremia / Q000209:etiology / Q000235:genetics / Q000378:metabolism*; D020896:Hypovolemia / Q000209:etiology / Q000235:genetics / Q000378:metabolism*; D009154:Mutation; D013255:Steroid 21-Hydroxylase / Q000235:genetics / Q000378:metabolism
D000450:Aldosterone; D013255:Steroid 21-Hydroxylase; D019405:Cytochrome P-450 CYP11B2; D003348:Cortisone