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February 1969

Oculocerebrorenal Syndrome: In a Child With a Normal Urinary Acidification and a Defect in Bicarbonate Reabsorption

Author Affiliations

Sapporo, Japan
From the Department of Pediatrics, Hokkaido University School of Medicine, Sapporo, Japan.

Am J Dis Child. 1969;117(2):205-212. doi:10.1001/archpedi.1969.02100030207017

THE oculocerebrorenal syndrome or Lowe's syndrome is a disease characterized by mental retardation, glaucoma, cataract, hypotonia, hyporeflexia, and vitamin D resistant rickets. Biochemical abnormalities of the syndrome include amino-aciduria, decreased ammonia production by the kidney, metabolic acidosis, organic aciduria, proteinuria, and hyperphosphaturia. Since the original description of the syndrome by Lowe and his associates in 1952,1 more than 50 cases have been reported in the literature.2 The causative mechanism1,3 for the metabolic acidosis in the syndrome is a failure in urinary acidification as substantiated by a decreased ammonia production in the kidney in response to the administration of ammonium chloride.

The present paper deals with a study on the mechanism responsible for the metabolic acidosis in a typical case of the syndrome. Evidences will be presented that the mechanism responsible for metabolic acidosis in this particular case is not a failure in urinary acidification but that of