Diamond-Blackfan Anemia: Case Series in a Portuguese Tertiary Level Hospital
Autor(a) principal: | |
---|---|
Data de Publicação: | 2020 |
Outros Autores: | , , , , , |
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.2020.18600 |
Resumo: | Introduction: Diamond-Blackfan anemia (DBA) is a rare congenital erythroid aplasia associated with congenital abnormalities and evolving to bone marrow failure. It should be considered when the evolution differs from transient erythroblastopenia of childhood. Methods: Retrospective and descriptive study including the DBA cases followed in a Unit of Pediatric Hematology in a Portuguese tertiary level hospital, over 14 years (2006 to 2019). Results: Nine DBA cases were identified (56% female; 89% caucasians; 22% with congenital morphological abnormalities). The median diagnosis age was two months and the main symptoms were pallor (89%), failure and to thrive (55%). The median diagnosis hemoglobin was 3,7 g/dL [1,4;8,1] associated to severely low reticulocyte count. Bone marrow aspirate and biopsy was performed in 67% and in half there was severe erythroid hypoplasia. Sixty-seven percent had diagnosis confirmed by genetic testing and 56% were heterozygotic to mutation in RPS19 gene. The majority of the cases was transfusion dependent until corticotherapy was initiated (89%). There was secondary hemosiderosis in one patient. None had hematopoietic stem cell transplantation. There was remission in 22% and no deaths. Discussion: DBA is rare and the high diagnosis suspicion in the first year of life is essential. National and international registers, and extensive genetic testing, are crucial for new insights into the pathophysiology and management of DBA patients. |
id |
RCAP_77c48fb7592c3975b94679beffa655a5 |
---|---|
oai_identifier_str |
oai:ojs.revistas.rcaap.pt:article/18600 |
network_acronym_str |
RCAP |
network_name_str |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
repository_id_str |
7160 |
spelling |
Diamond-Blackfan Anemia: Case Series in a Portuguese Tertiary Level HospitalANEMIA DE DIAMOND-BLACKFAN: CASUÍSTICA NUM HOSPITAL DE NÍVEL III PORTUGUÊSCase seriesIntroduction: Diamond-Blackfan anemia (DBA) is a rare congenital erythroid aplasia associated with congenital abnormalities and evolving to bone marrow failure. It should be considered when the evolution differs from transient erythroblastopenia of childhood. Methods: Retrospective and descriptive study including the DBA cases followed in a Unit of Pediatric Hematology in a Portuguese tertiary level hospital, over 14 years (2006 to 2019). Results: Nine DBA cases were identified (56% female; 89% caucasians; 22% with congenital morphological abnormalities). The median diagnosis age was two months and the main symptoms were pallor (89%), failure and to thrive (55%). The median diagnosis hemoglobin was 3,7 g/dL [1,4;8,1] associated to severely low reticulocyte count. Bone marrow aspirate and biopsy was performed in 67% and in half there was severe erythroid hypoplasia. Sixty-seven percent had diagnosis confirmed by genetic testing and 56% were heterozygotic to mutation in RPS19 gene. The majority of the cases was transfusion dependent until corticotherapy was initiated (89%). There was secondary hemosiderosis in one patient. None had hematopoietic stem cell transplantation. There was remission in 22% and no deaths. Discussion: DBA is rare and the high diagnosis suspicion in the first year of life is essential. National and international registers, and extensive genetic testing, are crucial for new insights into the pathophysiology and management of DBA patients.Introdução: A anemia de Diamond-Blackfan (ADB) é uma anemia congénita arregenerativa rara associada com malformações congénitas e evoluindo para falência medular. Deve ser considerada quando evolução natural da doença não é concordante com eritrobastopénia transitória da infância. Métodos: Estudo retrospectivo e descritivo, incluindo os casos de ADB seguidos numa Unidade de Hematologia Pediátrica de um hospital nível III em Portugal, durante 14 anos (2006 a 2019). Resultados: Identificaram-se 9 casos (56% do sexo feminino; 89% caucasianos; 22% com malformações congénitas). A mediana de idade ao diagnóstico foi de 2 meses e o principal sintoma foi palidez cutânea/ mucosas (89%), seguido de dificuldade alimentar (55%). A hemoglobina mediana de apresentação foi 3,7 g/dL [1,4;8,1] com reticulocitopénia grave associada. Realizada biópsia osteomedular em 67% e destes metade com hipoplasia acentuada da série eritróide. Em 67% foi confirmado diagnóstico por estudo genético e 56% eram heterozigotos para mutação no gene RPS19. A maioria dos casos era dependente de suporte transfusional até iniciar corticoterapia (89%). Num caso verificou-se hemossiderose secundária. Nenhum foi submetido a transplante de progenitores hematopoiéticos. Houve remissão em 2 casos e não ocorreram óbitos. Discussão: A ADB é rara, sendo que a elevada suspeição no primeiro ano de vida é fundamental para o diagnóstico. Os registos nacionais e internacionais, assim como testes genéticos mais abrangentes, são cruciais para novo conhecimento acercada fisiopatologia e abordagem dos doentes com ADB.Sociedade Portuguesa de Pediatria2020-07-09info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articlehttps://doi.org/10.25754/pjp.2020.18600eng2184-44532184-3333Moeda, SofiaViegas, InêsAlves, JoãoSilva, Raquel GouveiaSalgado, CatarinaPalaré, 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:RCAAP2023-08-03T02:58:04Zoai:ojs.revistas.rcaap.pt:article/18600Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T20:25:32.823508Repositório 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 |
Diamond-Blackfan Anemia: Case Series in a Portuguese Tertiary Level Hospital ANEMIA DE DIAMOND-BLACKFAN: CASUÍSTICA NUM HOSPITAL DE NÍVEL III PORTUGUÊS |
title |
Diamond-Blackfan Anemia: Case Series in a Portuguese Tertiary Level Hospital |
spellingShingle |
Diamond-Blackfan Anemia: Case Series in a Portuguese Tertiary Level Hospital Moeda, Sofia Case series |
title_short |
Diamond-Blackfan Anemia: Case Series in a Portuguese Tertiary Level Hospital |
title_full |
Diamond-Blackfan Anemia: Case Series in a Portuguese Tertiary Level Hospital |
title_fullStr |
Diamond-Blackfan Anemia: Case Series in a Portuguese Tertiary Level Hospital |
title_full_unstemmed |
Diamond-Blackfan Anemia: Case Series in a Portuguese Tertiary Level Hospital |
title_sort |
Diamond-Blackfan Anemia: Case Series in a Portuguese Tertiary Level Hospital |
author |
Moeda, Sofia |
author_facet |
Moeda, Sofia Viegas, Inês Alves, João Silva, Raquel Gouveia Salgado, Catarina Palaré, Maria João Ferrão, Anabela |
author_role |
author |
author2 |
Viegas, Inês Alves, João Silva, Raquel Gouveia Salgado, Catarina Palaré, Maria João Ferrão, Anabela |
author2_role |
author author author author author author |
dc.contributor.author.fl_str_mv |
Moeda, Sofia Viegas, Inês Alves, João Silva, Raquel Gouveia Salgado, Catarina Palaré, Maria João Ferrão, Anabela |
dc.subject.por.fl_str_mv |
Case series |
topic |
Case series |
description |
Introduction: Diamond-Blackfan anemia (DBA) is a rare congenital erythroid aplasia associated with congenital abnormalities and evolving to bone marrow failure. It should be considered when the evolution differs from transient erythroblastopenia of childhood. Methods: Retrospective and descriptive study including the DBA cases followed in a Unit of Pediatric Hematology in a Portuguese tertiary level hospital, over 14 years (2006 to 2019). Results: Nine DBA cases were identified (56% female; 89% caucasians; 22% with congenital morphological abnormalities). The median diagnosis age was two months and the main symptoms were pallor (89%), failure and to thrive (55%). The median diagnosis hemoglobin was 3,7 g/dL [1,4;8,1] associated to severely low reticulocyte count. Bone marrow aspirate and biopsy was performed in 67% and in half there was severe erythroid hypoplasia. Sixty-seven percent had diagnosis confirmed by genetic testing and 56% were heterozygotic to mutation in RPS19 gene. The majority of the cases was transfusion dependent until corticotherapy was initiated (89%). There was secondary hemosiderosis in one patient. None had hematopoietic stem cell transplantation. There was remission in 22% and no deaths. Discussion: DBA is rare and the high diagnosis suspicion in the first year of life is essential. National and international registers, and extensive genetic testing, are crucial for new insights into the pathophysiology and management of DBA patients. |
publishDate |
2020 |
dc.date.none.fl_str_mv |
2020-07-09 |
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.2020.18600 |
url |
https://doi.org/10.25754/pjp.2020.18600 |
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 |
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_ |
1799133524364623872 |