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In utero diagnosis of Autosomal Dominant Polycystic Kidney Disease

Bibliographic Details
Main Author: Cal,Margarida
Publication Date: 2020
Other Authors: Godinho,Iolanda, Sá,Mariana Soeiro e, Cunha,Margarida, Carvalho,Rui Marques de
Format: Report
Language: eng
Source: Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
Download full: http://scielo.pt/scielo.php?script=sci_arttext&pid=S1646-58302020000300010
Summary: 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: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=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/openaireinfo@rcaap.ptopendoar:https://opendoar.ac.uk/repository/71602025-05-28T13:09:12.003979Repositórios 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 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
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=S1646-58302020000300010
url http://scielo.pt/scielo.php?script=sci_arttext&pid=S1646-58302020000300010
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv http://scielo.pt/scielo.php?script=sci_arttext&pid=S1646-58302020000300010
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 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: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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