Abstract
Aldosterone(A) binding sites have been demonstrated in human mononuclear leucocytes(HML).The measurement of the mineralocorticoid binding capacity of these receptors could be a valuable tool to assess states of mineralocorticoid insensitivity in humans.
We here present data obtained in 2 sibs with PH and their parents. The 8 y old girl was diagnosed in infancy after a severe salt-losing crisis. Plsma renin activity(PRA) and A were elevated. In the 2 y old brother the diagnosis was suspected when hyponatraemia and hyperkalaemia occured in the first week of life. At this time PRA and A were normal but became elevated at 3months of age. Both children receive oral sodium supplementation, the dosage needed to normalize the sodium balance in the girl is considerably higher than in the younger brother. The parents show no signs of sodium imbalance.
When measuring the A binding in HML we found no binding sites in the girl. In the boy, there were 62 receptors/cell (r/c) as compared to 170±29 r/c in normal children. The binding sites in the parents were within the normal adult range. These results are strong evidence that the A insensivity in PH is due to a deficiency of mineralocorticoid receptors. It may be speculated that this deficiency is also present in other mineralocorticoid target organs in particular in the kidney. The existence of a small amount of receptor in the boy may explain the more favorable course in this child.
Article PDF
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Kuhnle, U., Dörr, H., Strasser, T. et al. 81 DEMONSTRATION OF MINERALOCORTICOID RECEPTOR DEEICIENCY IN TWO SIBLINGS WITH PSEUDOHYPOALDOSTERONISM(PH). Pediatr Res 19, 617 (1985). https://doi.org/10.1203/00006450-198506000-00101
Issue Date:
DOI: https://doi.org/10.1203/00006450-198506000-00101