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Hypouricaemia and hyperuricosuria in familial renal glucosuria
Familial renal glucosuria is a rare co-dominantly inherited benign phenotype characterized by the presence of glucose in the urine. It is caused by mutations in the SLC5A2 gene that encodes SGLT2, the Na(+)-glucose cotransporter responsible for the reabsorption of the bulk of glucose in the proximal...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2013
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4438413/ https://www.ncbi.nlm.nih.gov/pubmed/26064518 http://dx.doi.org/10.1093/ckj/sft100 |
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author | Aires, Inês Santos, Ana Rita Pratas, Jorge Nolasco, Fernando Calado, Joaquim |
author_facet | Aires, Inês Santos, Ana Rita Pratas, Jorge Nolasco, Fernando Calado, Joaquim |
author_sort | Aires, Inês |
collection | PubMed |
description | Familial renal glucosuria is a rare co-dominantly inherited benign phenotype characterized by the presence of glucose in the urine. It is caused by mutations in the SLC5A2 gene that encodes SGLT2, the Na(+)-glucose cotransporter responsible for the reabsorption of the bulk of glucose in the proximal tubule. We report a case of FRG displaying both severe glucosuria and renal hypouricaemia. We hypothesize that glucosuria can disrupt urate reabsorption in the proximal tubule, directly causing hyperuricosuria. |
format | Online Article Text |
id | pubmed-4438413 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2013 |
publisher | Oxford University Press |
record_format | MEDLINE/PubMed |
spelling | pubmed-44384132015-06-10 Hypouricaemia and hyperuricosuria in familial renal glucosuria Aires, Inês Santos, Ana Rita Pratas, Jorge Nolasco, Fernando Calado, Joaquim Clin Kidney J Clinical Cases Familial renal glucosuria is a rare co-dominantly inherited benign phenotype characterized by the presence of glucose in the urine. It is caused by mutations in the SLC5A2 gene that encodes SGLT2, the Na(+)-glucose cotransporter responsible for the reabsorption of the bulk of glucose in the proximal tubule. We report a case of FRG displaying both severe glucosuria and renal hypouricaemia. We hypothesize that glucosuria can disrupt urate reabsorption in the proximal tubule, directly causing hyperuricosuria. Oxford University Press 2013-10 2013-09-05 /pmc/articles/PMC4438413/ /pubmed/26064518 http://dx.doi.org/10.1093/ckj/sft100 Text en © The Author 2013. 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 | Clinical Cases Aires, Inês Santos, Ana Rita Pratas, Jorge Nolasco, Fernando Calado, Joaquim Hypouricaemia and hyperuricosuria in familial renal glucosuria |
title | Hypouricaemia and hyperuricosuria in familial renal glucosuria |
title_full | Hypouricaemia and hyperuricosuria in familial renal glucosuria |
title_fullStr | Hypouricaemia and hyperuricosuria in familial renal glucosuria |
title_full_unstemmed | Hypouricaemia and hyperuricosuria in familial renal glucosuria |
title_short | Hypouricaemia and hyperuricosuria in familial renal glucosuria |
title_sort | hypouricaemia and hyperuricosuria in familial renal glucosuria |
topic | Clinical Cases |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4438413/ https://www.ncbi.nlm.nih.gov/pubmed/26064518 http://dx.doi.org/10.1093/ckj/sft100 |
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