Fanconi Anemia and pregnancy: a new reality

Detalhes bibliográficos
Autor(a) principal: Gomes,Helena
Data de Publicação: 2022
Outros Autores: Lourenço,Inês, Ferreira,Isabelina, Aboim,Leonor, Veríssimo,Carlos
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=S1646-58302022000100062
Resumo: Abstract Fanconi Anemia (FA) is a rare hereditary syndrome which commonly causes infertility. We present a case of a spontaneous successful pregnancy in a patient with FA. During pregnancy, she had a progressive worsening of baseline thrombocytopenia without improvement with corticosteroid or platelet transfusions. Due to inability to maintain a safe platelet level, therapy with a thrombopoietin receptor agonist (Eltrombopag), previously used in patients with refractory immune thrombocytopenia, was started with good response. As this report shows, pregnancy with good perinatal outcome in patients with FA is possible with appropriate multidisciplinary follow-up.
id RCAP_14fdfd263e20d26a484a8544e64cf590
oai_identifier_str oai:scielo:S1646-58302022000100062
network_acronym_str RCAP
network_name_str Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
repository_id_str 7160
spelling Fanconi Anemia and pregnancy: a new realityFanconi anemiaPregnancyThrombocytopeniaThrombopoietin receptor agonistAbstract Fanconi Anemia (FA) is a rare hereditary syndrome which commonly causes infertility. We present a case of a spontaneous successful pregnancy in a patient with FA. During pregnancy, she had a progressive worsening of baseline thrombocytopenia without improvement with corticosteroid or platelet transfusions. Due to inability to maintain a safe platelet level, therapy with a thrombopoietin receptor agonist (Eltrombopag), previously used in patients with refractory immune thrombocytopenia, was started with good response. As this report shows, pregnancy with good perinatal outcome in patients with FA is possible with appropriate multidisciplinary follow-up.Euromédice, Edições Médicas Lda.2022-03-01info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/reporttext/htmlhttp://scielo.pt/scielo.php?script=sci_arttext&pid=S1646-58302022000100062Acta Obstétrica e Ginecológica Portuguesa v.16 n.1 2022reponame: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=S1646-58302022000100062Gomes,HelenaLourenço,InêsFerreira,IsabelinaAboim,LeonorVeríssimo,Carlosinfo:eu-repo/semantics/openAccess2024-02-06T17:21:56Zoai:scielo:S1646-58302022000100062Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-20T02:28:46.777640Repositório 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 Fanconi Anemia and pregnancy: a new reality
title Fanconi Anemia and pregnancy: a new reality
spellingShingle Fanconi Anemia and pregnancy: a new reality
Gomes,Helena
Fanconi anemia
Pregnancy
Thrombocytopenia
Thrombopoietin receptor agonist
title_short Fanconi Anemia and pregnancy: a new reality
title_full Fanconi Anemia and pregnancy: a new reality
title_fullStr Fanconi Anemia and pregnancy: a new reality
title_full_unstemmed Fanconi Anemia and pregnancy: a new reality
title_sort Fanconi Anemia and pregnancy: a new reality
author Gomes,Helena
author_facet Gomes,Helena
Lourenço,Inês
Ferreira,Isabelina
Aboim,Leonor
Veríssimo,Carlos
author_role author
author2 Lourenço,Inês
Ferreira,Isabelina
Aboim,Leonor
Veríssimo,Carlos
author2_role author
author
author
author
dc.contributor.author.fl_str_mv Gomes,Helena
Lourenço,Inês
Ferreira,Isabelina
Aboim,Leonor
Veríssimo,Carlos
dc.subject.por.fl_str_mv Fanconi anemia
Pregnancy
Thrombocytopenia
Thrombopoietin receptor agonist
topic Fanconi anemia
Pregnancy
Thrombocytopenia
Thrombopoietin receptor agonist
description Abstract Fanconi Anemia (FA) is a rare hereditary syndrome which commonly causes infertility. We present a case of a spontaneous successful pregnancy in a patient with FA. During pregnancy, she had a progressive worsening of baseline thrombocytopenia without improvement with corticosteroid or platelet transfusions. Due to inability to maintain a safe platelet level, therapy with a thrombopoietin receptor agonist (Eltrombopag), previously used in patients with refractory immune thrombocytopenia, was started with good response. As this report shows, pregnancy with good perinatal outcome in patients with FA is possible with appropriate multidisciplinary follow-up.
publishDate 2022
dc.date.none.fl_str_mv 2022-03-01
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=S1646-58302022000100062
url http://scielo.pt/scielo.php?script=sci_arttext&pid=S1646-58302022000100062
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv http://scielo.pt/scielo.php?script=sci_arttext&pid=S1646-58302022000100062
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.16 n.1 2022
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
_version_ 1817550068099579904