Nephropathic Cystinosis Presenting as Renal Fanconi Syndrome without Glycosuria
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 wi...
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| Format: | Article |
| Language: | English |
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JCDR Research and Publications Private Limited
2015-03-01
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| Series: | Journal of Clinical and Diagnostic Research |
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| Online Access: | https://jcdr.net/articles/PDF/5692/10875_CE(RA1)_F(T)_PF1(NJAK)_PFA(AK)_PF2(PAG).pdf |
| _version_ | 1818162937778405376 |
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| author | Jayashree Kanthila Smitha Dsa Kamalakshi G. Bhat |
| author_facet | Jayashree Kanthila Smitha Dsa Kamalakshi G. Bhat |
| author_sort | Jayashree Kanthila |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-11T16:41:36Z |
| format | Article |
| id | doaj.art-bb868268395443afa364d836d43bfddd |
| institution | Directory Open Access Journal |
| issn | 2249-782X 0973-709X |
| language | English |
| last_indexed | 2024-12-11T16:41:36Z |
| publishDate | 2015-03-01 |
| publisher | JCDR Research and Publications Private Limited |
| record_format | Article |
| series | Journal of Clinical and Diagnostic Research |
| spelling | doaj.art-bb868268395443afa364d836d43bfddd2022-12-22T00:58:19ZengJCDR Research and Publications Private LimitedJournal of Clinical and Diagnostic Research2249-782X0973-709X2015-03-0193SD05SD0610.7860/JCDR/2015/10875.5692Nephropathic Cystinosis Presenting as Renal Fanconi Syndrome without GlycosuriaJayashree Kanthila0Smitha Dsa1Kamalakshi G. Bhat2Associate Professor, Department of Pediatrics, Kasturba Medical College, Mangalore, Manipal University, India.Assistant Professor, Department of Pediatrics, Kasturba Medical College, Mangalore, Manipal University, India.Professor, Department of Pediatrics, Kasturba Medical College, Mangalore, Manipal University, India.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.https://jcdr.net/articles/PDF/5692/10875_CE(RA1)_F(T)_PF1(NJAK)_PFA(AK)_PF2(PAG).pdfcystinosisglycosuriarenal fanconi syndrome |
| spellingShingle | Jayashree Kanthila Smitha Dsa Kamalakshi G. Bhat Nephropathic Cystinosis Presenting as Renal Fanconi Syndrome without Glycosuria Journal of Clinical and Diagnostic Research cystinosis glycosuria renal fanconi syndrome |
| title | Nephropathic Cystinosis Presenting as Renal Fanconi Syndrome without Glycosuria |
| title_full | Nephropathic Cystinosis Presenting as Renal Fanconi Syndrome without Glycosuria |
| title_fullStr | Nephropathic Cystinosis Presenting as Renal Fanconi Syndrome without Glycosuria |
| title_full_unstemmed | Nephropathic Cystinosis Presenting as Renal Fanconi Syndrome without Glycosuria |
| title_short | Nephropathic Cystinosis Presenting as Renal Fanconi Syndrome without Glycosuria |
| title_sort | nephropathic cystinosis presenting as renal fanconi syndrome without glycosuria |
| topic | cystinosis glycosuria renal fanconi syndrome |
| url | https://jcdr.net/articles/PDF/5692/10875_CE(RA1)_F(T)_PF1(NJAK)_PFA(AK)_PF2(PAG).pdf |
| work_keys_str_mv | AT jayashreekanthila nephropathiccystinosispresentingasrenalfanconisyndromewithoutglycosuria AT smithadsa nephropathiccystinosispresentingasrenalfanconisyndromewithoutglycosuria AT kamalakshigbhat nephropathiccystinosispresentingasrenalfanconisyndromewithoutglycosuria |