Sodium chloride restriction and extracellular fluid volume contraction in hyperphosphatiuric vitamin D resistant rickets in the Lowe syndrome.
A patient with a Lowe syndrome was observed from birth. Progressive hyperchloraemic renal tubular acidosis, hypophosphataemia, hyperphosphaturia and generalized hyperaminoaciduria had developed in infancy. Supplementary vitamin D, alkali and a high intake of dietary phosphate were unsuccessful in controlling the severe phosphate diabetes and rickets. Contraction of the extracellular fluid volume by dietary sodium restriction resulted in correction of the acidosis, hypophosphataemia, hyperaminoaciduria, and hyperphosphaturia, and healing of the rickets.
D000141:Acidosis, Renal Tubular / Q000178:diet therapy*; D000469:Alkaline Phosphatase / Q000097:blood; D001639:Bicarbonates / Q000097:blood; D002118:Calcium / Q000652:urine; D002675:Child, Preschool; D004039:Diet, Sodium-Restricted; D005110:Extracellular Space; D005128:Eye Diseases / Q000235:genetics*; D006801:Humans; D007015:Hypophosphatemia, Familial / Q000178:diet therapy*; D007223:Infant; D007408:Intestinal Absorption; D008297:Male; D010710:Phosphates / Q000652:urine; D000608:Renal Aminoacidurias / Q000178:diet therapy*
D001639:Bicarbonates; D010710:Phosphates; D000469:Alkaline Phosphatase; D002118:Calcium