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Journal of Clinical Endocrinology & Metabolism, Vol 50, 401-404, Copyright © 1980 by Endocrine Society

ARTICLES

Mineralocorticoid unresponsiveness with severe neonatal hyponatremia and hyperkalemia

S Rosenberg, RC Franks and S Ulick

An infant with severe neonatal hyponatremia and hyperkalemia is described. Although marked elevations of urinary 17- hydroxycorticosteroids suggested an 18-dehydrogenase aldosterone biosynthetic defect, the infant proved to have mineralocorticoid unresponsiveness, or pseudohypoaldosteronism. Dietary sodium supplementation and ion exchange resin administration resulted in normalization of serum electrolytes and urinary 17- hydroxycorticosteroids. ACTH infusion produced natriuresis, suggesting the need for additional sodium supplementation during the stress of illness, with a resultant increase in ACTH secretion. Determinations of the relative amounts of urinary 18-hydroxy and aldosterone metabolites appear necessary for early definitive diagnosis of the disorder.


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T. Tajima, H. Kitagawa, S. Yokoya, K. Tachibana, M. Adachi, J. Nakae, S. Suwa, S. Katoh, and K. Fujieda
A Novel Missense Mutation of Mineralocorticoid Receptor Gene in One Japanese Family with a Renal Form of Pseudohypoaldosteronism Type 1
J. Clin. Endocrinol. Metab., December 1, 2000; 85(12): 4690 - 4694.
[Abstract] [Full Text]


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