Generalized unresponsiveness to mineralocorticoid hormones: familial recessive pseudohypoaldosteronism due to aldosterone-receptor deficiency

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Abstract
The present report describes two sibs.sbd.born from consanguineous parents.sbd.presenting with severe salt wasting. Generalized pseudohypoaldosteronism (PHA) was diagnosed on the basis of markedly elevated sodium concentration in urine (84 and 63 mmol/L respectively), sweat (181 and 196), saliva (- and 120) and stool (- and 189), hyponatremia (112 and 132) and hyperkalemia (10.7 and 7.3) in the presence of increased plasma aldosterone (> 8.5 and 5.4 ng/ml), plasma renin activity (40 and 18.9 ng/ml/hr) and urinary aldosterone (> 32 and 11.6 .mu.g/day). Both parents investigated under basal conditions (sodium ad libitum) and under sodium restricted diet appeared to be normal. Aldosterone binding studies performed on mononuclear leukocytes showed no type I receptors in the investigated child whereas low amounts were found in both parents (90 sites/cell and 63 sites/cell in the mother and the father, respectively). Isolated renal unresponsiveness to mineralocorticoid hormones is thought to be an autosomal dominant inherited disease. In contrast, the results obtained in these two new cases of generalized PHA, as well as the fact that four of five yet reported cases were born from consanguineous parents, suggest an autosomal recessive mode of inheritance for generalized PHA.