Fanconi Anemia: How to Recognize It Before Bone Marrow Failure?

Detalhes bibliográficos
Autor(a) principal: Ferreira, Filipa
Data de Publicação: 2021
Outros Autores: Palaré, Maria João, Ferrão, Anabela
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: https://doi.org/10.25754/pjp.2021.21321
Resumo: Fanconi anemia is the most common of the rare inherited bone marrow failure syndromes. It is caused by genetic mutations that lead to genomic instability, the hallmark of the disorder. Therefore, patients are extremely vulnerable to bone marrow failure, leukemia and neoplasms. Several physical anomalies have been associated, affecting multiple organ systems. We present three cases in whom the diagnosis was made before the onset of aplasia, highlighting the important clinical clues that physicians should be aware of. 
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spelling Fanconi Anemia: How to Recognize It Before Bone Marrow Failure?Anemia de Fanconi: como reconhecer antes da falência medular?Case reportsFanconi anemia is the most common of the rare inherited bone marrow failure syndromes. It is caused by genetic mutations that lead to genomic instability, the hallmark of the disorder. Therefore, patients are extremely vulnerable to bone marrow failure, leukemia and neoplasms. Several physical anomalies have been associated, affecting multiple organ systems. We present three cases in whom the diagnosis was made before the onset of aplasia, highlighting the important clinical clues that physicians should be aware of. Sociedade Portuguesa de Pediatria2021-11-03info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articlehttps://doi.org/10.25754/pjp.2021.21321eng2184-44532184-3333Ferreira, FilipaPalaré, Maria JoãoFerrão, Anabelainfo:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-08-03T02:58:13Zoai:ojs.revistas.rcaap.pt:article/21321Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T20:25:36.583366Repositório 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: How to Recognize It Before Bone Marrow Failure?
Anemia de Fanconi: como reconhecer antes da falência medular?
title Fanconi Anemia: How to Recognize It Before Bone Marrow Failure?
spellingShingle Fanconi Anemia: How to Recognize It Before Bone Marrow Failure?
Ferreira, Filipa
Case reports
title_short Fanconi Anemia: How to Recognize It Before Bone Marrow Failure?
title_full Fanconi Anemia: How to Recognize It Before Bone Marrow Failure?
title_fullStr Fanconi Anemia: How to Recognize It Before Bone Marrow Failure?
title_full_unstemmed Fanconi Anemia: How to Recognize It Before Bone Marrow Failure?
title_sort Fanconi Anemia: How to Recognize It Before Bone Marrow Failure?
author Ferreira, Filipa
author_facet Ferreira, Filipa
Palaré, Maria João
Ferrão, Anabela
author_role author
author2 Palaré, Maria João
Ferrão, Anabela
author2_role author
author
dc.contributor.author.fl_str_mv Ferreira, Filipa
Palaré, Maria João
Ferrão, Anabela
dc.subject.por.fl_str_mv Case reports
topic Case reports
description Fanconi anemia is the most common of the rare inherited bone marrow failure syndromes. It is caused by genetic mutations that lead to genomic instability, the hallmark of the disorder. Therefore, patients are extremely vulnerable to bone marrow failure, leukemia and neoplasms. Several physical anomalies have been associated, affecting multiple organ systems. We present three cases in whom the diagnosis was made before the onset of aplasia, highlighting the important clinical clues that physicians should be aware of. 
publishDate 2021
dc.date.none.fl_str_mv 2021-11-03
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 https://doi.org/10.25754/pjp.2021.21321
url https://doi.org/10.25754/pjp.2021.21321
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 2184-4453
2184-3333
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.publisher.none.fl_str_mv Sociedade Portuguesa de Pediatria
publisher.none.fl_str_mv Sociedade Portuguesa de Pediatria
dc.source.none.fl_str_mv 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
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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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