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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...

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Autores principales: Aires, Inês, Santos, Ana Rita, Pratas, Jorge, Nolasco, Fernando, Calado, Joaquim
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2013
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.
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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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