Abstract
Ten infants with PHA presented with urinary Na loss, hyperkalaemia and ostensibly normal renal and adrenocortical function. Plasma renin activity (PRA) and aldosterone concentration (PA) were markedly increased in all cases and GC/MS analysis of urine revealed characteristically increased excretion of aldosterone and its metabolites. Na supplementation was effective treatment and could, in the majority of patients, be discontinued between 1 and 2 years of age, even though the primary defect persisted. The use of the above investigative techniques allows rapid distinction between PHA and 18 oxidation defects in aldosterone biosynthesis, and may reveal the true incidence of PHA amongst children with unexplained sodium wasting disease.
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Dillon, M., Leonard, J., Buckler, J. et al. Pseudo hypoaldosteronism (PHA). Use of plasma renin/aldosterone profile and gas chromatogrphic/mass sepctrometric (GC/MS) analysis of urine in diagnosis.. Pediatr Res 13, 1188 (1979). https://doi.org/10.1203/00006450-197910000-00047
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DOI: https://doi.org/10.1203/00006450-197910000-00047
