Hypouricaemia and hyperuricosuria in familial renal glucosuria

Detalhes bibliográficos
Autor(a) principal: Aires, I.
Data de Publicação: 2013
Outros Autores: Santos, A.R., Pratas, Jorge, Nolasco, F., Calado, J.
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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spelling 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
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
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application/pdf
dc.source.none.fl_str_mv reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron:RCAAP
instname_str Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron_str RCAAP
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reponame_str Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
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repository.name.fl_str_mv Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
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