Primary hyperoxaluria type 1: A literature review upon three clinical cases
Autor(a) principal: | |
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Data de Publicação: | 2014 |
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=S0872-01692014000400002 |
Resumo: | Primary hyperoxaluria type 1 is a rare metabolic disorder of the hepatic peroxisomes characterised by excessive oxalate production, kidney deposition and subsequent systemic oxalosis. The diagnosis is often delayed and about 30% of the patients have end-stage renal disease at the time of diagnosis. The recommended treatment when there is end-stage renal disease is combined liver and kidney transplantation, bridging the hepatic enzyme defect and renal dysfunction. We report three cases of young women with primary hyperoxaluria type 1 and end-stage renal disease, making a subsequent systematic review of this topic. The timing of diagnosis and, consequently, the start of therapy were different for the three patients and may have an impact on prognosis. Since it is such a rare disease, the diagnosis is dependent on a strong clinical suspicion. In patients with a history of nephrocalcinosis and/or recurrent nephrolithiasis with progression to chronic kidney disease, this diagnosis should be excluded, especially before considering an isolated kidney transplant |
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Primary hyperoxaluria type 1: A literature review upon three clinical casesAlanineglyoxylate aminotransferasechronic kidney diseasecombined liver-kidney transplantationnephrolithiasisoxalateprimary hyperoxaluria type 1Primary hyperoxaluria type 1 is a rare metabolic disorder of the hepatic peroxisomes characterised by excessive oxalate production, kidney deposition and subsequent systemic oxalosis. The diagnosis is often delayed and about 30% of the patients have end-stage renal disease at the time of diagnosis. The recommended treatment when there is end-stage renal disease is combined liver and kidney transplantation, bridging the hepatic enzyme defect and renal dysfunction. We report three cases of young women with primary hyperoxaluria type 1 and end-stage renal disease, making a subsequent systematic review of this topic. The timing of diagnosis and, consequently, the start of therapy were different for the three patients and may have an impact on prognosis. Since it is such a rare disease, the diagnosis is dependent on a strong clinical suspicion. In patients with a history of nephrocalcinosis and/or recurrent nephrolithiasis with progression to chronic kidney disease, this diagnosis should be excluded, especially before considering an isolated kidney transplantSociedade Portuguesa de Nefrologia2014-12-01info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articletext/htmlhttp://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-01692014000400002Portuguese Journal of Nephrology & Hypertension v.28 n.4 2014reponame: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=S0872-01692014000400002Leal,RitaSantos,TâniaGalvão,AnaMacário,FernandoPratas,JorgeCunha,Fernanda XavierVilarinho,LauraCampos,Márioinfo:eu-repo/semantics/openAccess2024-02-06T17:04:46Zoai:scielo:S0872-01692014000400002Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-20T02:18:53.189979Repositório 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 |
Primary hyperoxaluria type 1: A literature review upon three clinical cases |
title |
Primary hyperoxaluria type 1: A literature review upon three clinical cases |
spellingShingle |
Primary hyperoxaluria type 1: A literature review upon three clinical cases Leal,Rita Alanine glyoxylate aminotransferase chronic kidney disease combined liver-kidney transplantation nephrolithiasis oxalate primary hyperoxaluria type 1 |
title_short |
Primary hyperoxaluria type 1: A literature review upon three clinical cases |
title_full |
Primary hyperoxaluria type 1: A literature review upon three clinical cases |
title_fullStr |
Primary hyperoxaluria type 1: A literature review upon three clinical cases |
title_full_unstemmed |
Primary hyperoxaluria type 1: A literature review upon three clinical cases |
title_sort |
Primary hyperoxaluria type 1: A literature review upon three clinical cases |
author |
Leal,Rita |
author_facet |
Leal,Rita Santos,Tânia Galvão,Ana Macário,Fernando Pratas,Jorge Cunha,Fernanda Xavier Vilarinho,Laura Campos,Mário |
author_role |
author |
author2 |
Santos,Tânia Galvão,Ana Macário,Fernando Pratas,Jorge Cunha,Fernanda Xavier Vilarinho,Laura Campos,Mário |
author2_role |
author author author author author author author |
dc.contributor.author.fl_str_mv |
Leal,Rita Santos,Tânia Galvão,Ana Macário,Fernando Pratas,Jorge Cunha,Fernanda Xavier Vilarinho,Laura Campos,Mário |
dc.subject.por.fl_str_mv |
Alanine glyoxylate aminotransferase chronic kidney disease combined liver-kidney transplantation nephrolithiasis oxalate primary hyperoxaluria type 1 |
topic |
Alanine glyoxylate aminotransferase chronic kidney disease combined liver-kidney transplantation nephrolithiasis oxalate primary hyperoxaluria type 1 |
description |
Primary hyperoxaluria type 1 is a rare metabolic disorder of the hepatic peroxisomes characterised by excessive oxalate production, kidney deposition and subsequent systemic oxalosis. The diagnosis is often delayed and about 30% of the patients have end-stage renal disease at the time of diagnosis. The recommended treatment when there is end-stage renal disease is combined liver and kidney transplantation, bridging the hepatic enzyme defect and renal dysfunction. We report three cases of young women with primary hyperoxaluria type 1 and end-stage renal disease, making a subsequent systematic review of this topic. The timing of diagnosis and, consequently, the start of therapy were different for the three patients and may have an impact on prognosis. Since it is such a rare disease, the diagnosis is dependent on a strong clinical suspicion. In patients with a history of nephrocalcinosis and/or recurrent nephrolithiasis with progression to chronic kidney disease, this diagnosis should be excluded, especially before considering an isolated kidney transplant |
publishDate |
2014 |
dc.date.none.fl_str_mv |
2014-12-01 |
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=S0872-01692014000400002 |
url |
http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-01692014000400002 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-01692014000400002 |
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.28 n.4 2014 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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1799137279049990144 |