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Nephropathic Cystinosis Presenting as Renal Fanconi Syndrome without Glycosuria
- Source :
- Journal of Clinical and Diagnostic Research, Vol 9, Iss 3, Pp SD05-SD06 (2015)
- Publication Year :
- 2015
- Publisher :
- JCDR Research and Publications Private Limited, 2015.
-
Abstract
- 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.
- Subjects :
- cystinosis
glycosuria
renal fanconi syndrome
Medicine
Subjects
Details
- Language :
- English
- ISSN :
- 2249782X and 0973709X
- Volume :
- 9
- Issue :
- 3
- Database :
- Directory of Open Access Journals
- Journal :
- Journal of Clinical and Diagnostic Research
- Publication Type :
- Academic Journal
- Accession number :
- edsdoj.bb868268395443afa364d836d43bfddd
- Document Type :
- article
- Full Text :
- https://doi.org/10.7860/JCDR/2015/10875.5692