Aldosterone-Receptor Deficiency in Pseudohypoaldosteronism
- 7 November 1985
- journal article
- case report
- Published by Massachusetts Medical Society in New England Journal of Medicine
- Vol. 313 (19), 1178-1181
- https://doi.org/10.1056/nejm198511073131902
Abstract
Pseudohypoaldosteronism, a syndrome characterized by salt wasting and failure to thrive, usually presents in infancy as high urinary levels of sodium despite hyponatremia, hyperkalemia, hyperreninemia, and elevated aldosterone levels. We have investigated this syndrome for the possibility of abnormal Type I or "mineralocorticoid-like" receptors, which have intrinsic steroid specificity indistinguishable from that of renal mineralocorticoid receptors and are found in many tissues and cells, including mononuclear leukocytes. We have studied three patients with pseudohypoaldosteronism: the 28-year-old index case in Melbourne (Patient 1) and two siblings in Munich, eight and two years of age (Patients 2 and 3); clinically, Patient 3 had a less severe case than his sister. Percoll-separated control monocytes bound [3H]aldosterone with high affinity (Kd∼3 nM) and limited capacity (150 to 600 sites per cell). On repeated examination, no [3H]aldosterone binding was found in monocytes from Patients 1 and 2; in Patient 3, the levels were 62 sites per cell, more than 2 S.D. below those of the control. Levels in the parents of the Munich patients (first cousins) were normal. It appears that pseudohypoaldosteronism is caused by a Type I receptor defect, that the defect may be complete or partial, that transmission may be autosomal recessive, and that the study of patients with pseudohypoaldosteronism may indicate physiologic roles for Type I receptors in nonepithelial tissues. (N Engl J Med 1985; 313:1178–81.)Keywords
This publication has 15 references indexed in Scilit:
- Mineralocorticoid and Glucocorticoid Receptors in Circulating Mononuclear Leukocytes of Patients with Primary HyperaldosteronismJMIR AI, 1985
- Renal mineralocorticoid receptors and hippocampal corticosterone-binding species have identical intrinsic steroid specificity.Proceedings of the National Academy of Sciences, 1983
- A rapid method for purification of human granulocytes using percoll®. A comparison with dextran sedimentationJournal of Immunological Methods, 1981
- Mineralocorticoid-resistant renal hyperkalemia without salt wasting (type II pseudohypoaldosteronism): Role of increased renal chloride reabsorptionKidney International, 1981
- Mineralocorticoid and glucocorticoid receptors in human kidneyKidney International, 1976
- The Roles of Plasma Binding and Receptor Specificity in the Mineralocorticoid Action of Aldosterone1Endocrinology, 1973
- Glucocorticoid Receptors in Rat Kidney: The Rinding of Tritiated-Dexamethasone1Endocrinology, 1973
- Glucocorticoid and mineralocorticoid receptors for aldosteroneJournal of Steroid Biochemistry, 1972
- A Salt Wasting Syndrome in InfancyArchives of Disease in Childhood, 1958