Pseudohypoaldosteronism.
Three children, two of whom were siblings, had pseudohypoaldosteronism. The features of this condition include failure to thrive, hyperkalemia, metabolic acidosis, salt wasting, elevated peripheral renin activity, and increased plasma aldosterone concentration. Hyperplasia of juxtaglomerular apparatus was seen in a renal biopsy specimen from one of these patients. Administration of large quantities of salt normalized the serum electrolyte abnormalities and permitted normal growth. Furthermore, the serum electrolyte abnormalities were prevented by administration of increased amounts of salt to one of these children from birth.
D000450:Aldosterone / Q000097:blood / Q000378:metabolism*; D002648:Child; D005260:Female; D006801:Humans; D006965:Hyperplasia; D007223:Infant; D007231:Infant, Newborn; D007678:Kidney Glomerulus / Q000473:pathology / Q000648:ultrastructure; D008297:Male; D012016:Reference Values; D015499:Renal Tubular Transport, Inborn Errors / Q000235:genetics* / Q000628:therapy; D012083:Renin / Q000097:blood; D012965:Sodium Chloride / Q000652:urine*
D012965:Sodium Chloride; D000450:Aldosterone; D012083:Renin