Abstract
Infection-triggered life-threatening salt loss and hyperkalemia developed in 2 male infants with dystrophy, inappropiately low plasma aldosterone concentrations and elevated plasma renin activity. Sodium supplementation but not short-term high dose oral 9α-fluorcortisol (FF) did revert hyponatremia in one boy (Pat.A) The other boy (Pat.B) is growing normally on a high sodium diet and oral FF (0.1 mg/d). Diagnosis of a defective terminal step of aldosterone biosynthesis was confirmed by measuring urinary excretion of specific mineralocorticoid metabolites:
Unknown steroids as candidates responsible for the salt loss could not be identified by GC-MS. In conclusion, CC is mandatory in all cases of unexplained salt loss in infancy and childhood. Short-term response to exogenous mineralocorticoids may not be diagnostic in distinguishing pseudohypoaldosteronism from defects in mineralocorticoid synthesis. (THA: 11-dehydrotetrahydrocorticosterone, a-THB: allo-tetrahydrocorticosterone, C-M: Cortisol metabolites)
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Hauffa, B., Solyom, J., Shackleton, C. et al. 162 SEVERE HYPOLADOSTERONISM DUE TO CORTICOSTERONE METHYL OXIDASE TYPE II (CMO II) DEFICIENCY IN 2 BOYS: METABOLIC AND GAS CHROMATOGRAPHY/MASS SPECTROMETRY (CC-MS) STUDIES. Pediatr Res 24, 544 (1988). https://doi.org/10.1203/00006450-198810000-00183
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DOI: https://doi.org/10.1203/00006450-198810000-00183