Publicação
In utero diagnosis of Autosomal Dominant Polycystic Kidney Disease
| 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. |
|---|---|
| Autores principais: | Cal,Margarida |
| Outros Autores: | Godinho,Iolanda; Sá,Mariana Soeiro e; Cunha,Margarida; Carvalho,Rui Marques de |
| Assunto: | ADPKD In utero diagnosis VEO Ultrasound Preimplantation genetic diagnosis |
| Ano: | 2020 |
| País: | Portugal |
| Tipo de documento: | relatório |
| Tipo de acesso: | acesso aberto |
| Instituição associada: | Fundação para a Ciência e Tecnologia |
| Idioma: | inglês |
| Origem: | SciELO Portugal |
| _version_ | 1868441862427115520 |
|---|---|
| author | Cal,Margarida |
| author2 | Godinho,Iolanda Sá,Mariana Soeiro e Cunha,Margarida Carvalho,Rui Marques de |
| author2_role | author author author author |
| author_facet | Cal,Margarida Godinho,Iolanda Sá,Mariana Soeiro e Cunha,Margarida Carvalho,Rui Marques de |
| author_role | author |
| country_str | PT |
| creators_json_txt | [{\"Person.name\":\"Cal,Margarida\"},{\"Person.name\":\"Godinho,Iolanda\"},{\"Person.name\":\"Sá,Mariana Soeiro e\"},{\"Person.name\":\"Cunha,Margarida\"},{\"Person.name\":\"Carvalho,Rui Marques de\"}] |
| datacite.creators.creator.creatorName.fl_str_mv | Cal,Margarida Godinho,Iolanda Sá,Mariana Soeiro e Cunha,Margarida Carvalho,Rui Marques de |
| datacite.rights.fl_str_mv | http://purl.org/coar/access_right/c_abf2 |
| datacite.subjects.subject.fl_str_mv | ADPKD In utero diagnosis VEO Ultrasound Preimplantation genetic diagnosis |
| datacite.titles.title.fl_str_mv | In utero diagnosis of Autosomal Dominant Polycystic Kidney Disease |
| dc.creator.none.fl_str_mv | Cal,Margarida Godinho,Iolanda Sá,Mariana Soeiro e Cunha,Margarida Carvalho,Rui Marques de |
| dc.format.none.fl_str_mv | text/html |
| dc.identifier.none.fl_str_mv | http://scielo.pt/scielo.php?script=sci_arttext&pid=S1646-58302020000300010 |
| dc.language.none.fl_str_mv | eng |
| dc.publisher.none.fl_str_mv | Euromédice, Edições Médicas Lda. |
| dc.rights.none.fl_str_mv | http://purl.org/coar/access_right/c_abf2 |
| dc.source.none.fl_str_mv | Acta Obstétrica e Ginecológica Portuguesa v.14 n.3 2020 |
| dc.subject.none.fl_str_mv | ADPKD In utero diagnosis VEO Ultrasound Preimplantation genetic diagnosis |
| dc.title.fl_str_mv | In utero diagnosis of Autosomal Dominant Polycystic Kidney Disease |
| dc.type.none.fl_str_mv | http://purl.org/coar/resource_type/c_93fc |
| 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. |
| dirty | 0 |
| eu_rights_str_mv | openAccess |
| format | report |
| id | scielopt_5cd25878b31c2a2eec6eefacd99adfd2 |
| identifier.url.fl_str_mv | http://scielo.pt/scielo.php?script=sci_arttext&pid=S1646-58302020000300010 |
| instacron_str | SciELO |
| institution | Fundação para a Ciência e Tecnologia |
| instname_str | Fundação para a Ciência e Tecnologia |
| language | eng |
| network_acronym_str | scielopt |
| network_name_str | SciELO Portugal |
| oai_identifier_str | oai:scielo:S1646-58302020000300010 |
| organization_str_mv | urn:organizationAcronym:scielo |
| person_str_mv | Cal,Margarida Godinho,Iolanda Sá,Mariana Soeiro e Cunha,Margarida Carvalho,Rui Marques de |
| publishDate | 2020 |
| publisher.none.fl_str_mv | Euromédice, Edições Médicas Lda. |
| reponame_str | SciELO Portugal |
| repository_id_str | urn:repositoryAcronym:scielopt |
| service_str_mv | urn:repositoryAcronym:scielopt |
| spelling | In utero diagnosis of Autosomal Dominant Polycystic Kidney DiseaseCal,MargaridaGodinho,IolandaSá,Mariana Soeiro eCunha,MargaridaCarvalho,Rui Marques deADPKDIn utero diagnosisVEOUltrasoundPreimplantation genetic diagnosisopen accesshttp://purl.org/coar/access_right/c_abf2http://scielo.pt/scielo.php?script=sci_arttext&pid=S1646-58302020000300010URLhttp://scielo.pt/scielo.php?script=sci_arttext&pid=S1646-58302020000300010URLHasVersion2020-09-01Autosomal 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.Acta Obstétrica e Ginecológica Portuguesa v.14 n.3 2020text/htmlengreporthttp://purl.org/coar/resource_type/c_93fcother research product |
| spellingShingle | In utero diagnosis of Autosomal Dominant Polycystic Kidney Disease Cal,Margarida ADPKD In utero diagnosis VEO Ultrasound Preimplantation genetic diagnosis |
| status | SINGLETON |
| subject.fl_str_mv | ADPKD In utero diagnosis VEO Ultrasound Preimplantation genetic diagnosis |
| title | 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_short | In utero diagnosis of Autosomal Dominant Polycystic Kidney Disease |
| title_sort | In utero diagnosis of Autosomal Dominant Polycystic Kidney Disease |
| topic | ADPKD In utero diagnosis VEO Ultrasound Preimplantation genetic diagnosis |
| topic_facet | ADPKD In utero diagnosis VEO Ultrasound Preimplantation genetic diagnosis |
| url | http://scielo.pt/scielo.php?script=sci_arttext&pid=S1646-58302020000300010 |
| visible | 1 |