title: Fanconi syndrome with lysinuric protein intolerance.
abstract: We present the case of a 9-year-old child with lysinuric protein intolerance and Fanconi syndrome. She was referred to our hospital with a persistent metabolic acidosis and polyuria. Renal investigations revealed all laboratory signs of Fanconi syndrome, with glucosuria, generalized aminoaciduria, phosphaturia and severe hypercalciuria. The diagnosis of Fanconi syndrome was confirmed by a renal biopsy that showed extensive lesions of proximal tubular epithelial cells with vacuolation of these cells and a sloughing of the brush border.
authors: Department of Public Health , University Federico II , Naples , Italy.
authors: Eleonora
authors: E
authors: Riccio
authors: Department of Public Health , University Federico II , Naples , Italy.
authors: Antonio
authors: A
authors: Pisani
keywords: Fanconi syndrome; hyperammonaemia; lysinuric protein intolerance