Nephropathic Cystinosis Presenting as Renal Fanconi Syndrome without Glycosuria

Kanthila, Jayashree and *, Smitha Dsa and Bhat, Kamalakshi G. (2015) Nephropathic Cystinosis Presenting as Renal Fanconi Syndrome without Glycosuria. Journal of Clinical and Diagnostic Research, 9 (3). SD05-SD06. ISSN 0973-709X

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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.

Item Type: Article
Uncontrolled Keywords: Cystinosis, Glycosuria, Renal fanconi syndrome
Subjects: Medicine > KMC Mangalore > Paediatrics
Depositing User: KMCMLR User
Date Deposited: 09 Mar 2015 05:14
Last Modified: 09 Mar 2015 05:14

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