title: Hyporeninemic hypoaldosteronism in infancy: a familial disease.
abstract: Hyporeninemic hypoaldosteronism was found in two male siblings with urinary salt wasting and low plasma sodium levels. The eldest, aged 1 yr, had growth retardation, with hyponatremia and normal plasma potassium levels. The second, aged 2 months, had low plasma sodium and high plasma potassium levels. Both were severely and repeatedly hypoaldosteronemic. Primary adrenal deficiency was excluded by ACTH testing, which showed a good aldosterone rise and normal responses of other steroids. Both children had low PRA compared to that in age-matched normal subjects. The eldest sibling also had decreased total renin, low inactive to total renin ratio, and a subnormal level of angiotensinogen. The father had low plasma angiotensinogen levels. Congenital deficiency of renin activity and/or angiotensinogen production is suggested as the primary abnormality.
mesh_terms: D000305:Adrenal Cortex Hormones / Q000097:blood; D000324:Adrenocorticotropic Hormone; D000450:Aldosterone / Q000097:blood / Q000172:deficiency*; D000808:Angiotensinogen / Q000097:blood / Q000172:deficiency; D005260:Female; D006801:Humans; D007010:Hyponatremia / Q000097:blood; D007223:Infant; D008297:Male; D011188:Potassium / Q000097:blood; D012083:Renin / Q000097:blood / Q000172:deficiency*
chemical_list: D000305:Adrenal Cortex Hormones; D000808:Angiotensinogen; D000450:Aldosterone; D000324:Adrenocorticotropic Hormone; D012083:Renin; D011188:Potassium