Disruption of urate transport in familial renal glucosuria and report on SGLT2 expression in normal and pathological kidney

Detalhes bibliográficos
Autor(a) principal: Aires,Ines
Data de Publicação: 2013
Outros Autores: Santos,Ana Rita, Bogarin,Roberto, Genc,Gurkan, Pratas,Jorge, Ozkaya,Ozan, Carvalho,Fernanda, Rueff,Jose, Nolasco,Fernando, Calado,Joaquim
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-01692013000400006
Resumo: Familial renal glucosuria (FRG) 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, a Na+ -glucose co -transporter. The purpose of our current work was twofold: to characterize the molecular and phenotype findings of an FRG cohort and, in addition, to detail the SGLT2 expression in the adult human kidney. The phenotype of FRG pedigrees was evaluated using direct sequencing for the identification of sequence variations in the SLC5A2 gene. The expression of SGLT2 in the adult human kidney was studied by immunofluorescence on kidney biopsy specimens. In the absence of renal biopsies from FRG individuals, and in order to evaluate the potential disruption of SGLT2 expression in a glucosuric nephropathy, we have selected cases of nucleoside analogues induced proximal tubular toxicity. We identified six novel SLC5A2 mutations in six FRG pedigrees and described the occurrence of hyperuricosuria associated with hypouricaemia in the two probands with the most severe phenotypes. Histopathological studies proved that SGLT2 is localized to the brush -border of the proximal tubular epithelia cell and that this normal pattern was found to be disrupted in cases of nucleoside analogues induced tubulopathy. We present six novel SLC5A2 mutations, further contributing to the allelic heterogeneity in FRG, and identified hyperuricosuria and hypouricaemia as part of the FRG phenotype. SGLT2 is localized to the brush -border of the proximal tubule in the adult human normal kidney, and aberrant expression of the co-transporter may underlie the glucosuria seen with the use of nucleoside analogues.
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spelling Disruption of urate transport in familial renal glucosuria and report on SGLT2 expression in normal and pathological kidneyglucosuriaproximal tubuleSGLT2 expressionuric acidFamilial renal glucosuria (FRG) 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, a Na+ -glucose co -transporter. The purpose of our current work was twofold: to characterize the molecular and phenotype findings of an FRG cohort and, in addition, to detail the SGLT2 expression in the adult human kidney. The phenotype of FRG pedigrees was evaluated using direct sequencing for the identification of sequence variations in the SLC5A2 gene. The expression of SGLT2 in the adult human kidney was studied by immunofluorescence on kidney biopsy specimens. In the absence of renal biopsies from FRG individuals, and in order to evaluate the potential disruption of SGLT2 expression in a glucosuric nephropathy, we have selected cases of nucleoside analogues induced proximal tubular toxicity. We identified six novel SLC5A2 mutations in six FRG pedigrees and described the occurrence of hyperuricosuria associated with hypouricaemia in the two probands with the most severe phenotypes. Histopathological studies proved that SGLT2 is localized to the brush -border of the proximal tubular epithelia cell and that this normal pattern was found to be disrupted in cases of nucleoside analogues induced tubulopathy. We present six novel SLC5A2 mutations, further contributing to the allelic heterogeneity in FRG, and identified hyperuricosuria and hypouricaemia as part of the FRG phenotype. SGLT2 is localized to the brush -border of the proximal tubule in the adult human normal kidney, and aberrant expression of the co-transporter may underlie the glucosuria seen with the use of nucleoside analogues.Sociedade Portuguesa de Nefrologia2013-12-01info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articletext/htmlhttp://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-01692013000400006Portuguese Journal of Nephrology & Hypertension v.27 n.4 2013reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAPenghttp://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-01692013000400006Aires,InesSantos,Ana RitaBogarin,RobertoGenc,GurkanPratas,JorgeOzkaya,OzanCarvalho,FernandaRueff,JoseNolasco,FernandoCalado,Joaquiminfo:eu-repo/semantics/openAccess2024-02-06T17:04:43Zoai:scielo:S0872-01692013000400006Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-20T02:18:51.322524Repositório 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 Disruption of urate transport in familial renal glucosuria and report on SGLT2 expression in normal and pathological kidney
title Disruption of urate transport in familial renal glucosuria and report on SGLT2 expression in normal and pathological kidney
spellingShingle Disruption of urate transport in familial renal glucosuria and report on SGLT2 expression in normal and pathological kidney
Aires,Ines
glucosuria
proximal tubule
SGLT2 expression
uric acid
title_short Disruption of urate transport in familial renal glucosuria and report on SGLT2 expression in normal and pathological kidney
title_full Disruption of urate transport in familial renal glucosuria and report on SGLT2 expression in normal and pathological kidney
title_fullStr Disruption of urate transport in familial renal glucosuria and report on SGLT2 expression in normal and pathological kidney
title_full_unstemmed Disruption of urate transport in familial renal glucosuria and report on SGLT2 expression in normal and pathological kidney
title_sort Disruption of urate transport in familial renal glucosuria and report on SGLT2 expression in normal and pathological kidney
author Aires,Ines
author_facet Aires,Ines
Santos,Ana Rita
Bogarin,Roberto
Genc,Gurkan
Pratas,Jorge
Ozkaya,Ozan
Carvalho,Fernanda
Rueff,Jose
Nolasco,Fernando
Calado,Joaquim
author_role author
author2 Santos,Ana Rita
Bogarin,Roberto
Genc,Gurkan
Pratas,Jorge
Ozkaya,Ozan
Carvalho,Fernanda
Rueff,Jose
Nolasco,Fernando
Calado,Joaquim
author2_role author
author
author
author
author
author
author
author
author
dc.contributor.author.fl_str_mv Aires,Ines
Santos,Ana Rita
Bogarin,Roberto
Genc,Gurkan
Pratas,Jorge
Ozkaya,Ozan
Carvalho,Fernanda
Rueff,Jose
Nolasco,Fernando
Calado,Joaquim
dc.subject.por.fl_str_mv glucosuria
proximal tubule
SGLT2 expression
uric acid
topic glucosuria
proximal tubule
SGLT2 expression
uric acid
description Familial renal glucosuria (FRG) 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, a Na+ -glucose co -transporter. The purpose of our current work was twofold: to characterize the molecular and phenotype findings of an FRG cohort and, in addition, to detail the SGLT2 expression in the adult human kidney. The phenotype of FRG pedigrees was evaluated using direct sequencing for the identification of sequence variations in the SLC5A2 gene. The expression of SGLT2 in the adult human kidney was studied by immunofluorescence on kidney biopsy specimens. In the absence of renal biopsies from FRG individuals, and in order to evaluate the potential disruption of SGLT2 expression in a glucosuric nephropathy, we have selected cases of nucleoside analogues induced proximal tubular toxicity. We identified six novel SLC5A2 mutations in six FRG pedigrees and described the occurrence of hyperuricosuria associated with hypouricaemia in the two probands with the most severe phenotypes. Histopathological studies proved that SGLT2 is localized to the brush -border of the proximal tubular epithelia cell and that this normal pattern was found to be disrupted in cases of nucleoside analogues induced tubulopathy. We present six novel SLC5A2 mutations, further contributing to the allelic heterogeneity in FRG, and identified hyperuricosuria and hypouricaemia as part of the FRG phenotype. SGLT2 is localized to the brush -border of the proximal tubule in the adult human normal kidney, and aberrant expression of the co-transporter may underlie the glucosuria seen with the use of nucleoside analogues.
publishDate 2013
dc.date.none.fl_str_mv 2013-12-01
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 http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-01692013000400006
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dc.language.iso.fl_str_mv eng
language eng
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dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
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dc.format.none.fl_str_mv text/html
dc.publisher.none.fl_str_mv Sociedade Portuguesa de Nefrologia
publisher.none.fl_str_mv Sociedade Portuguesa de Nefrologia
dc.source.none.fl_str_mv Portuguese Journal of Nephrology & Hypertension v.27 n.4 2013
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
institution RCAAP
reponame_str Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
collection Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
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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