title: Generalized unresponsiveness to mineralocorticoid hormones: familial recessive pseudohypoaldosteronism due to aldosterone-receptor deficiency.
abstract: The present report describes two sibs--born from consanguineous parents--presenting with severe salt wasting. Generalized pseudohypoaldosteronism (PHA) was diagnosed on the basis of markedly elevated sodium concentration in urine (84 & 63 mmol/L respectively), sweat (181 & 196), saliva (- & 120) and stool (- & 189), hyponatremia (112 & 132) and hyperkalemia (10.7 & 7.3) in the presence of increased plasma aldosterone (greater than 8.5 & 5.4 ng/ml), plasma renin activity (40 & 18.9 ng/ml/hr) and urinary aldosterone (greater than 32 & 11.6 micrograms/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.
mesh_terms: D000450:Aldosterone / Q000097:blood / Q000378:metabolism* / Q000652:urine; D003241:Consanguinity; D004351:Drug Resistance; D005243:Feces / Q000032:analysis; D005260:Female; D006801:Humans; D006947:Hyperkalemia; D007010:Hyponatremia; D007231:Infant, Newborn; D008297:Male; D008901:Mineralocorticoids / Q000494:pharmacology*; D011965:Receptors, Glucocorticoid / Q000378:metabolism*; D018161:Receptors, Mineralocorticoid; D012083:Renin / Q000097:blood; D012463:Saliva / Q000378:metabolism; D012964:Sodium / Q000378:metabolism / Q000652:urine; D013542:Sweat / Q000378:metabolism
chemical_list: D008901:Mineralocorticoids; D011965:Receptors, Glucocorticoid; D018161:Receptors, Mineralocorticoid; D000450:Aldosterone; D012964:Sodium; D012083:Renin