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.

SUBMITTER: Riccio E 

PROVIDER: S-EPMC4389143 | biostudies-literature | 2014 Dec

REPOSITORIES: biostudies-literature