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  • Title: [Fanconi syndrome with hepatic cirrhosis. Presentation of a case].
    Author: Ortiz Méndez VM, Bonilla Aguirre R, Farfán Boldo J, Velázquez A, Olvera Hidalgo C.
    Journal: Bol Med Hosp Infant Mex; 1981; 38(1):169-75. PubMed ID: 7284065.
    Abstract:
    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.
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