Isolated Aldosterone Deficiency in Man: Acquired and Inborn Errors in the Biosynthesis or Action of Aldosterone*

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Abstract
The combined efforts of clinical investigation and biochemical research have provided substantive insights into the homeostatic mechanisms that maintain concentrations of monovalent cations within a narrow physiological range in body fluids. For example, more precise knowledge of biochemical pathways subserving mineralocorticoid production in man has derived from recent detailed studies of certain “experiments in nature,” which comprise discrete inborn errors in aldosterone biosynthesis. Such conditions are biochemically and genetically distinct from congenital end-organ resistance to mineralocorticoid action (so-called pseudohypoaldosteronism). In addition, more comprehensive characterization has been attained of acquired, isolated defects in mineralocorticoid production in association with various clinical disorders. However, under any of these pathological conditions, defective hormonal regulation of sodium and potassium balance has created a spectrum of clinical disorders, ranging from life-threatening salt loss or potassium retention, to asymptomatic impairment of statural growth in children and clinically normal adults. The current review will explore in detail and review critically the pathophysiological aspects of selective defects in either the synthesis or the action of aldosterone in the human.

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