Primary Hyperoxaluria Type 1: The First Patient Treated with Lumasiran in Portugal

Detalhes bibliográficos
Autor(a) principal: Borges,Madalena Almeida
Data de Publicação: 2023
Outros Autores: Martins,João, Dias,Joana Monteiro, Fonseca,Nuno Moreira, Francisco,Telma, Abranches,Margarida
Tipo de documento: Relatório
Idioma: eng
Título da fonte: Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
Texto Completo: http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-01692023000200093
Resumo: ABSTRACT Primary hyperoxaluria type 1 is a rare genetic disease caused by mutations in AGXT, leading to an excessive hepatic production of oxalate, resulting in urolithiasis, nephrocalcinosis and chronic kidney disease. The authors present the case of a young female with PH1 who is the first patient treated with lumasiran in Portugal, and currently has a follow-up of 18 months.
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spelling Primary Hyperoxaluria Type 1: The First Patient Treated with Lumasiran in PortugalHyperoxaluria, Primary/drug therapyKidney CalculiRNA, Small Interfering/therapeutic useRNAi TherapeuticsABSTRACT Primary hyperoxaluria type 1 is a rare genetic disease caused by mutations in AGXT, leading to an excessive hepatic production of oxalate, resulting in urolithiasis, nephrocalcinosis and chronic kidney disease. The authors present the case of a young female with PH1 who is the first patient treated with lumasiran in Portugal, and currently has a follow-up of 18 months.Sociedade Portuguesa de Nefrologia2023-06-01info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/reporttext/htmlhttp://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-01692023000200093Portuguese Journal of Nephrology & Hypertension v.37 n.2 2023reponame:Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)instname:FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologiainstacron:RCAAPenghttp://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-01692023000200093Borges,Madalena AlmeidaMartins,JoãoDias,Joana MonteiroFonseca,Nuno MoreiraFrancisco,TelmaAbranches,Margaridainfo:eu-repo/semantics/openAccess2024-02-06T17:05:17Zoai:scielo:S0872-01692023000200093Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireinfo@rcaap.ptopendoar:https://opendoar.ac.uk/repository/71602025-05-28T12:54:42.556349Repositórios Científicos de Acesso Aberto de Portugal (RCAAP) - FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologiafalse
dc.title.none.fl_str_mv Primary Hyperoxaluria Type 1: The First Patient Treated with Lumasiran in Portugal
title Primary Hyperoxaluria Type 1: The First Patient Treated with Lumasiran in Portugal
spellingShingle Primary Hyperoxaluria Type 1: The First Patient Treated with Lumasiran in Portugal
Borges,Madalena Almeida
Hyperoxaluria, Primary/drug therapy
Kidney Calculi
RNA, Small Interfering/therapeutic use
RNAi Therapeutics
title_short Primary Hyperoxaluria Type 1: The First Patient Treated with Lumasiran in Portugal
title_full Primary Hyperoxaluria Type 1: The First Patient Treated with Lumasiran in Portugal
title_fullStr Primary Hyperoxaluria Type 1: The First Patient Treated with Lumasiran in Portugal
title_full_unstemmed Primary Hyperoxaluria Type 1: The First Patient Treated with Lumasiran in Portugal
title_sort Primary Hyperoxaluria Type 1: The First Patient Treated with Lumasiran in Portugal
author Borges,Madalena Almeida
author_facet Borges,Madalena Almeida
Martins,João
Dias,Joana Monteiro
Fonseca,Nuno Moreira
Francisco,Telma
Abranches,Margarida
author_role author
author2 Martins,João
Dias,Joana Monteiro
Fonseca,Nuno Moreira
Francisco,Telma
Abranches,Margarida
author2_role author
author
author
author
author
dc.contributor.author.fl_str_mv Borges,Madalena Almeida
Martins,João
Dias,Joana Monteiro
Fonseca,Nuno Moreira
Francisco,Telma
Abranches,Margarida
dc.subject.por.fl_str_mv Hyperoxaluria, Primary/drug therapy
Kidney Calculi
RNA, Small Interfering/therapeutic use
RNAi Therapeutics
topic Hyperoxaluria, Primary/drug therapy
Kidney Calculi
RNA, Small Interfering/therapeutic use
RNAi Therapeutics
description ABSTRACT Primary hyperoxaluria type 1 is a rare genetic disease caused by mutations in AGXT, leading to an excessive hepatic production of oxalate, resulting in urolithiasis, nephrocalcinosis and chronic kidney disease. The authors present the case of a young female with PH1 who is the first patient treated with lumasiran in Portugal, and currently has a follow-up of 18 months.
publishDate 2023
dc.date.none.fl_str_mv 2023-06-01
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/report
format report
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-01692023000200093
url http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-01692023000200093
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-01692023000200093
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.37 n.2 2023
reponame:Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
instname:FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologia
instacron:RCAAP
instname_str FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologia
instacron_str RCAAP
institution RCAAP
reponame_str Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
collection Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
repository.name.fl_str_mv Repositórios Científicos de Acesso Aberto de Portugal (RCAAP) - FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologia
repository.mail.fl_str_mv info@rcaap.pt
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