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Fanconi syndrome with lysinuric protein intolerance
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, p...
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2014
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4389143/ https://www.ncbi.nlm.nih.gov/pubmed/25859380 http://dx.doi.org/10.1093/ckj/sfu107 |
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author | Riccio, Eleonora Pisani, Antonio |
author_facet | Riccio, Eleonora Pisani, Antonio |
author_sort | Riccio, Eleonora |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-4389143 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2014 |
publisher | Oxford University Press |
record_format | MEDLINE/PubMed |
spelling | pubmed-43891432015-04-09 Fanconi syndrome with lysinuric protein intolerance Riccio, Eleonora Pisani, Antonio Clin Kidney J Original Contributions 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. Oxford University Press 2014-12 2014-10-20 /pmc/articles/PMC4389143/ /pubmed/25859380 http://dx.doi.org/10.1093/ckj/sfu107 Text en © The Author 2014. Published by Oxford University Press on behalf of ERA-EDTA. All rights reserved. For permissions, please email: journals.permissions@oup.com. http://creativecommons.org/licenses/by-nc/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited. For commercial re-use, please contact journals.permissions@oup.com |
spellingShingle | Original Contributions Riccio, Eleonora Pisani, Antonio Fanconi syndrome with lysinuric protein intolerance |
title | Fanconi syndrome with lysinuric protein intolerance |
title_full | Fanconi syndrome with lysinuric protein intolerance |
title_fullStr | Fanconi syndrome with lysinuric protein intolerance |
title_full_unstemmed | Fanconi syndrome with lysinuric protein intolerance |
title_short | Fanconi syndrome with lysinuric protein intolerance |
title_sort | fanconi syndrome with lysinuric protein intolerance |
topic | Original Contributions |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4389143/ https://www.ncbi.nlm.nih.gov/pubmed/25859380 http://dx.doi.org/10.1093/ckj/sfu107 |
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