Hypouricaemia and hyperuricosuria in familial renal glucosuria
Autor(a) principal: | |
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Data de Publicação: | 2013 |
Outros Autores: | , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
Texto Completo: | https://doi.org/10.1093/ckj/sft100 |
Resumo: | 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. © 2013 © The Author 2013. Published by Oxford University Press on behalf of ERA-EDTA. All rights reserved. For permissions, please email: journals.permissions@oup.com. |
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Hypouricaemia and hyperuricosuria in familial renal glucosuriaglucosekidneySGLT2uratecreatininecystinesodium glucose cotransporter 2uric acidadultarticlecase reportcreatinine blood leveldisease severityfamilial renal glucosuriafemalefollow upgene mutationgestational ageglucose urine levelhomozygosityhumanhyperuricosuriahypouricemiaincidental findingkidney proximal tubulekidney tubule absorptionpriority journalrenal diabetesuric acid blood levelurinary excretionSDG 3 - Good Health and Well-beingFamilial 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. © 2013 © The Author 2013. Published by Oxford University Press on behalf of ERA-EDTA. All rights reserved. For permissions, please email: journals.permissions@oup.com.NOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM)RUNAires, I.Santos, A.R.Pratas, JorgeNolasco, F.Calado, J.2017-10-04T22:01:51Z20132013-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/article3application/pdfhttps://doi.org/10.1093/ckj/sft100eng2048-8505PURE: 3165382https://www.scopus.com/inward/record.uri?eid=2-s2.0-84885056806&doi=10.1093%2fckj%2fsft100&partnerID=40&md5=0b0b1a0fe6a32dd02e0bd4ca5afcbc60https://doi.org/10.1093/ckj/sft100info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2024-03-11T04:12:17Zoai:run.unl.pt:10362/23892Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-20T03:27:55.974010Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse |
dc.title.none.fl_str_mv |
Hypouricaemia and hyperuricosuria in familial renal glucosuria |
title |
Hypouricaemia and hyperuricosuria in familial renal glucosuria |
spellingShingle |
Hypouricaemia and hyperuricosuria in familial renal glucosuria Aires, I. glucose kidney SGLT2 urate creatinine cystine sodium glucose cotransporter 2 uric acid adult article case report creatinine blood level disease severity familial renal glucosuria female follow up gene mutation gestational age glucose urine level homozygosity human hyperuricosuria hypouricemia incidental finding kidney proximal tubule kidney tubule absorption priority journal renal diabetes uric acid blood level urinary excretion SDG 3 - Good Health and Well-being |
title_short |
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_sort |
Hypouricaemia and hyperuricosuria in familial renal glucosuria |
author |
Aires, I. |
author_facet |
Aires, I. Santos, A.R. Pratas, Jorge Nolasco, F. Calado, J. |
author_role |
author |
author2 |
Santos, A.R. Pratas, Jorge Nolasco, F. Calado, J. |
author2_role |
author author author author |
dc.contributor.none.fl_str_mv |
NOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM) RUN |
dc.contributor.author.fl_str_mv |
Aires, I. Santos, A.R. Pratas, Jorge Nolasco, F. Calado, J. |
dc.subject.por.fl_str_mv |
glucose kidney SGLT2 urate creatinine cystine sodium glucose cotransporter 2 uric acid adult article case report creatinine blood level disease severity familial renal glucosuria female follow up gene mutation gestational age glucose urine level homozygosity human hyperuricosuria hypouricemia incidental finding kidney proximal tubule kidney tubule absorption priority journal renal diabetes uric acid blood level urinary excretion SDG 3 - Good Health and Well-being |
topic |
glucose kidney SGLT2 urate creatinine cystine sodium glucose cotransporter 2 uric acid adult article case report creatinine blood level disease severity familial renal glucosuria female follow up gene mutation gestational age glucose urine level homozygosity human hyperuricosuria hypouricemia incidental finding kidney proximal tubule kidney tubule absorption priority journal renal diabetes uric acid blood level urinary excretion SDG 3 - Good Health and Well-being |
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. © 2013 © The Author 2013. Published by Oxford University Press on behalf of ERA-EDTA. All rights reserved. For permissions, please email: journals.permissions@oup.com. |
publishDate |
2013 |
dc.date.none.fl_str_mv |
2013 2013-01-01T00:00:00Z 2017-10-04T22:01:51Z |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
https://doi.org/10.1093/ckj/sft100 |
url |
https://doi.org/10.1093/ckj/sft100 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
2048-8505 PURE: 3165382 https://www.scopus.com/inward/record.uri?eid=2-s2.0-84885056806&doi=10.1093%2fckj%2fsft100&partnerID=40&md5=0b0b1a0fe6a32dd02e0bd4ca5afcbc60 https://doi.org/10.1093/ckj/sft100 |
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info:eu-repo/semantics/openAccess |
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openAccess |
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3 application/pdf |
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Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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RCAAP |
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RCAAP |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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