期刊
MOLECULAR AND CELLULAR ENDOCRINOLOGY
卷 217, 期 1-2, 页码 81-87出版社
ELSEVIER SCI IRELAND LTD
DOI: 10.1016/j.mce.2003.10.013
关键词
aldosterone; Addison's disease; disorders; cytochrome; P450; hyponatremia; hyperkalemia; hypovolemia; renin
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. (C) 2003 Elsevier Ireland Ltd. All rights reserved.
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