Abstract
The present report describes two sibs - born from consanguineous Moroccan parents - presenting with severe salt wasting. Both had markedly elevated Na concentration in urine (84 & 63 mEq/L respectively), sweat (181 & 196), saliva (- & 120) and stool (- & 189), severe hyponatraemia (112 & 132) and hyperkaliaemia (10.7 & 7.3 mEq/L) in the presence of increased plasma aldosterone (PAldo > 8.5 & 5.4 ng/ml),plasma renin activity(PRA 40 & 18.9 ng AI/ml/hr) and urinary aldosterone (UAldo > 32 & 11.6 μg/day), indicating generalized unresponsiveness of aldosterone target organs. The parents investigated under basal and Na restricted diet appeared to be normal.
Isolated renal unresponsiveness to mineralocorticoid hormones has been shown to be an autosomic dominant inherited disease. On the contrary,these results in two cases of generalized pseudohypoaldosteronism as well as the fact that two of the three yet published cases were born from consanguineous parents support an autosomic recessive mode of inheritance of the trait.
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Bosson, D., Mees, N., Ranet, J. et al. 126 GENERALIZED MINERALOCORTICOID UNRESPONSIVENESS FAMILIAL RECESSIVE PSEUDOHYPOALDOSTERONISM. Pediatr Res 19, 624 (1985). https://doi.org/10.1203/00006450-198506000-00146
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DOI: https://doi.org/10.1203/00006450-198506000-00146