In utero diagnosis of Autosomal Dominant Polycystic Kidney Disease

Detalhes bibliográficos
Autor(a) principal: Cal,Margarida
Data de Publicação: 2020
Outros Autores: Godinho,Iolanda, Sá,Mariana Soeiro e, Cunha,Margarida, Carvalho,Rui Marques de
Tipo de documento: Relatório
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=S1646-58302020000300010
Resumo: Autosomal Dominant Polycystic Kidney Disease (ADPKD) is the most common inherited renal disease; its diagnosis, which used to be made during adulthood, has shifted towards earlier ages due to the development and widespread use of ultrasonography. Very-early onset (VEO) cases represent a high-risk group of patients. We describe a case of prenatal diagnosis in a pregnant woman with ADPKD. This case shows how diagnosis of ADPKD through ultrasound may signal high-risk patients that may benefit from early and timely treatment.
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spelling In utero diagnosis of Autosomal Dominant Polycystic Kidney DiseaseADPKDIn utero diagnosisVEOUltrasoundPreimplantation genetic diagnosisAutosomal Dominant Polycystic Kidney Disease (ADPKD) is the most common inherited renal disease; its diagnosis, which used to be made during adulthood, has shifted towards earlier ages due to the development and widespread use of ultrasonography. Very-early onset (VEO) cases represent a high-risk group of patients. We describe a case of prenatal diagnosis in a pregnant woman with ADPKD. This case shows how diagnosis of ADPKD through ultrasound may signal high-risk patients that may benefit from early and timely treatment.Euromédice, Edições Médicas Lda.2020-09-01info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/reporttext/htmlhttp://scielo.pt/scielo.php?script=sci_arttext&pid=S1646-58302020000300010Acta Obstétrica e Ginecológica Portuguesa v.14 n.3 2020reponame: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=S1646-58302020000300010Cal,MargaridaGodinho,IolandaSá,Mariana Soeiro eCunha,MargaridaCarvalho,Rui Marques deinfo:eu-repo/semantics/openAccess2024-02-06T17:21:49Zoai:scielo:S1646-58302020000300010Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-20T02:28:42.918076Repositório 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 In utero diagnosis of Autosomal Dominant Polycystic Kidney Disease
title In utero diagnosis of Autosomal Dominant Polycystic Kidney Disease
spellingShingle In utero diagnosis of Autosomal Dominant Polycystic Kidney Disease
Cal,Margarida
ADPKD
In utero diagnosis
VEO
Ultrasound
Preimplantation genetic diagnosis
title_short In utero diagnosis of Autosomal Dominant Polycystic Kidney Disease
title_full In utero diagnosis of Autosomal Dominant Polycystic Kidney Disease
title_fullStr In utero diagnosis of Autosomal Dominant Polycystic Kidney Disease
title_full_unstemmed In utero diagnosis of Autosomal Dominant Polycystic Kidney Disease
title_sort In utero diagnosis of Autosomal Dominant Polycystic Kidney Disease
author Cal,Margarida
author_facet Cal,Margarida
Godinho,Iolanda
Sá,Mariana Soeiro e
Cunha,Margarida
Carvalho,Rui Marques de
author_role author
author2 Godinho,Iolanda
Sá,Mariana Soeiro e
Cunha,Margarida
Carvalho,Rui Marques de
author2_role author
author
author
author
dc.contributor.author.fl_str_mv Cal,Margarida
Godinho,Iolanda
Sá,Mariana Soeiro e
Cunha,Margarida
Carvalho,Rui Marques de
dc.subject.por.fl_str_mv ADPKD
In utero diagnosis
VEO
Ultrasound
Preimplantation genetic diagnosis
topic ADPKD
In utero diagnosis
VEO
Ultrasound
Preimplantation genetic diagnosis
description Autosomal Dominant Polycystic Kidney Disease (ADPKD) is the most common inherited renal disease; its diagnosis, which used to be made during adulthood, has shifted towards earlier ages due to the development and widespread use of ultrasonography. Very-early onset (VEO) cases represent a high-risk group of patients. We describe a case of prenatal diagnosis in a pregnant woman with ADPKD. This case shows how diagnosis of ADPKD through ultrasound may signal high-risk patients that may benefit from early and timely treatment.
publishDate 2020
dc.date.none.fl_str_mv 2020-09-01
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
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dc.language.iso.fl_str_mv eng
language eng
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dc.publisher.none.fl_str_mv Euromédice, Edições Médicas Lda.
publisher.none.fl_str_mv Euromédice, Edições Médicas Lda.
dc.source.none.fl_str_mv Acta Obstétrica e Ginecológica Portuguesa v.14 n.3 2020
reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
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instacron: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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