[Fanconi syndrome with hepatic cirrhosis. Presentation of a case].
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.
D005198:Fanconi Syndrome / Q000150:complications* / Q000209:etiology; D006029:Glycosuria / Q000209:etiology; D006801:Humans; D007223:Infant; D007687:Kidney Tubules, Proximal / Q000503:physiopathology; D008103:Liver Cirrhosis / Q000209:etiology*; D008297:Male; D010710:Phosphates / Q000652:urine; D012279:Rickets / Q000209:etiology
D010710:Phosphates
Síndrome de Fanconi con cirrosis hepática. Presentación de un caso.