Disruption of urate transport in familial renal glucosuria and report on SGLT2 expression in normal and pathological kidney
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: | 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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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 |
url |
http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-01692013000400006 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-01692013000400006 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
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 |
repository.mail.fl_str_mv |
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1799137278988124160 |