Open AccessNephropathic Cystinosis Presenting as Renal Fanconi Syndrome without Glycosuria
Author(s) -
Jayashree Kanthila,
Smitha Dsa,
Kamalakshi G. Bhat
Publication year - 2015
Publication title -
journal of clinical and diagnostic research
Language(s) - English
Resource type - Journals
eISSN - 2249-782X
pISSN - 0973-709X
DOI - 10.7860/jcdr/2015/10875.5692
Subject(s) - glycosuria , fanconi syndrome , rickets , cystinosis , aminoaciduria , hypophosphatemia , medicine , failure to thrive , renal tubular acidosis , hypophosphatemic rickets , kidney disease , endocrinology , pediatrics , diabetes mellitus , kidney , acidosis , vitamin d and neurology , urine , cystine , biochemistry , enzyme , chemistry , cysteine
Renal Fanconi syndrome is diagnosed by its cardinal features of glycosuria without diabetes, aminoaciduria, phosphaturia, and renal tubular acidosis. It is often associated with hypokalaemia, hypophosphatemia and rickets. We report a seven-year-old boy with nephropathic cystinosis who presented with all the cardinal features of renal Fanconi syndrome associated with rickets, pathological fractures, stage IV chronic kidney disease (CKD) and hypothyroidism. Slit-lamp examination of the cornea confirmed the diagnosis. However glycosuria was conspicuously absent. Whenever there are features of rickets with failure to thrive and recurrent vomiting renal rickets should be ruled out. Cystinosis is one such disorder and we report this case due its rarity and interesting clinical presentation.