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Helv Paediatr Acta ; 30(4-5): 365-75, 1976 Jan.
Article in English | MEDLINE | ID: mdl-173698

ABSTRACT

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.


Subject(s)
Acidosis, Renal Tubular/diet therapy , Diet, Sodium-Restricted , Extracellular Space , Eye Diseases/genetics , Hypophosphatemia, Familial/diet therapy , Renal Aminoacidurias/diet therapy , Alkaline Phosphatase/blood , Bicarbonates/blood , Calcium/urine , Child, Preschool , Humans , Infant , Intestinal Absorption , Male , Phosphates/urine
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