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Pseudohypoaldosteronism: A Review and Report of Two New Cases

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Steroid Hormone Resistance

Part of the book series: Advances in Experimental Medicine and Biology ((AEMB,volume 196))

Abstract

Pseudohypoaldosteronism (PHA) is a syndrome which is characterized by salt-wasting and failure to thrive, usually presenting in infancy and accompanied by inappropriately high urinary sodium (Na) in the face of hyponatremia; hyperkalemia; hyperreninemia; and elevated serum and/or urinary aldosterone. All adrenocortical hormones have been reported to respond normally to stimulation with ACTH. An autosomal dominant form of genetic transmission has been documented in some families.1–10 In the original case report,11 Cheek and Perry proposed that the salt-losing defect could be explained by a renal tubular refractoriness to mineralocorticoid (MC). In the 70 patients reported subsequently, the metabolic derangements have been alleviated by oral or parenteral Na supplementation; response to exogenous MC was poor. The amount of Na and duration of therapy required appear to vary. In 4 cases where investigation of in vivo mineralocorticoid responsiveness was conducted, at least 2 organ systems in addition to the renal tubules demonstrated unresponsiveness to MC12,13 (present report case 3). In contrast to the majority of cases in which no renal pathology has been found, several nonclassical cases have been reported in which a secondary etiology is operative: PHA after renal transplantation,14 PHA accompanying obstructive uropathy,15 and PHA associated with prematurity and birth asphyxia.16 Alon et al17 found three neonates with unilateral renal disease and what appears to be partial MC unresponsiveness of the renal tubules: inadequate potassium excretion and metabolic acidosis, but no renal salt-wasting and only slightly elevated PRA and serum aldosterone. This entity has been termed renal tubular acidosis type 4, subtype 5.18

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Authors and Affiliations

  1. Department of Pediatrics, The New York Hospital Cornell Medical Center, 1300 York Avenue, New York, NY, 10021, USA

    P. W. Speiser, E. Stoner & M. I. New

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  1. National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA

    George P. Chrousos , D. Lynn Loriaux  & Mortimer B. Lipsett ,  & 

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© 1986 Plenum Press, New York

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Speiser, P.W., Stoner, E., New, M.I. (1986). Pseudohypoaldosteronism: A Review and Report of Two New Cases. In: Chrousos, G.P., Loriaux, D.L., Lipsett, M.B. (eds) Steroid Hormone Resistance. Advances in Experimental Medicine and Biology, vol 196. Springer, Boston, MA. https://doi.org/10.1007/978-1-4684-5101-6_12

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  • DOI: https://doi.org/10.1007/978-1-4684-5101-6_12

  • Publisher Name: Springer, Boston, MA

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