| pubmed-article:7284065 | pubmed:abstractText | A male infant with clinical and radiological manifestations of hypophosphatemic rickets is presented. He had dysfunction of the renal tubular mechanisms of reabsorption manifested by: glycosuria, hyperaminoaciduria, hyperphosphaturia and high alkaline phosphatase plasma levels; associated with hepatic cirrhosis. Biochemical screening discarded most of the main known causes of Toni-Debré-Fanconi syndrome. Unfortunately, due to the low incidence of the syndrome and the patient's death, it was impossible to reach an accurate diagnosis. A review of the syndrome is presented. | lld:pubmed |
