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Bilateral optic nevritis in a sickle cell anaemia carrier? – a rare clinical presentation

Bibliographic Details
Main Author: Rodrigues, Paulo
Publication Date: 2004
Other Authors: Maltez, Fernando, Machado, João, Proença, Rui
Format: Article
Language: por
Source: Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
Download full: https://revista.spmi.pt/index.php/rpmi/article/view/1723
Summary: Sickle cell anaemia is one of the oldest known haemoglobinopathies, occurs frequently and is spread worldwide. The syndrome is highly polymorphic with clinical features ranging from mild symptoms to severe presentations. Severe forms of the diseases are only frequent in the homozygotic form (SS) and double heterozygotes, while sickle cell carriers are generally assymptomatic. Ocular manifestations are frequent in sickle cell anaemia and SC disease, occurring very rarely in heterozygotes, as stated. The authors describe a severe clinical case of sickle cell trait in a young female patient, with exceptional ocular manifestations (bilateral optic nevritis). 
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spelling Bilateral optic nevritis in a sickle cell anaemia carrier? – a rare clinical presentationTraço drepanocítico com nevrite óptica bilateral? — um quadro clínico rarotraço drepanocíticonevrite ópticasickle cell traitoptic nevritisSickle cell anaemia is one of the oldest known haemoglobinopathies, occurs frequently and is spread worldwide. The syndrome is highly polymorphic with clinical features ranging from mild symptoms to severe presentations. Severe forms of the diseases are only frequent in the homozygotic form (SS) and double heterozygotes, while sickle cell carriers are generally assymptomatic. Ocular manifestations are frequent in sickle cell anaemia and SC disease, occurring very rarely in heterozygotes, as stated. The authors describe a severe clinical case of sickle cell trait in a young female patient, with exceptional ocular manifestations (bilateral optic nevritis). A drepanocitose é das hemoglobinopatias há mais tempo conhecidas, sendo também a mais disseminada no Mundo e numericamente a mais importante. O polimorfismo das síndromes falciformes é grande, revelando-se por quadros clínicos com largo espectro de gravidade e de complicações. A doença grave só é comum na anemia de células falciformes (homozigotia SS) e nos estados de dupla heterozigotia, sendo o traço drepanocítico habitualmente assintomático. Relativamente às suas manifestações oculares, elas são frequentes na anemia de células falciformes e na doença SC, sendo muito raras na heterozigotia AS. Os autores descrevem um caso de traço drepanocítico numa mulher jovem que se revestiu de grande gravidade e com manifestações oculares acompanhantes excepcionais (nevrite óptica bilateral).Sociedade Portuguesa de Medicina Interna2004-03-31info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttps://revista.spmi.pt/index.php/rpmi/article/view/1723Internal Medicine; Vol. 11 No. 1 (2004): Janeiro/ Março; 17-22Medicina Interna; Vol. 11 N.º 1 (2004): Janeiro/ Março; 17-222183-99800872-671Xreponame:Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)instname:FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologiainstacron:RCAAPporhttps://revista.spmi.pt/index.php/rpmi/article/view/1723https://revista.spmi.pt/index.php/rpmi/article/view/1723/1192Rodrigues, PauloMaltez, FernandoMachado, JoãoProença, Ruiinfo:eu-repo/semantics/openAccess2023-04-01T06:11:27Zoai:oai.revista.spmi.pt:article/1723Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireinfo@rcaap.ptopendoar:https://opendoar.ac.uk/repository/71602025-05-28T10:55:33.000317Repositórios 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 Bilateral optic nevritis in a sickle cell anaemia carrier? – a rare clinical presentation
Traço drepanocítico com nevrite óptica bilateral? — um quadro clínico raro
title Bilateral optic nevritis in a sickle cell anaemia carrier? – a rare clinical presentation
spellingShingle Bilateral optic nevritis in a sickle cell anaemia carrier? – a rare clinical presentation
Rodrigues, Paulo
traço drepanocítico
nevrite óptica
sickle cell trait
optic nevritis
title_short Bilateral optic nevritis in a sickle cell anaemia carrier? – a rare clinical presentation
title_full Bilateral optic nevritis in a sickle cell anaemia carrier? – a rare clinical presentation
title_fullStr Bilateral optic nevritis in a sickle cell anaemia carrier? – a rare clinical presentation
title_full_unstemmed Bilateral optic nevritis in a sickle cell anaemia carrier? – a rare clinical presentation
title_sort Bilateral optic nevritis in a sickle cell anaemia carrier? – a rare clinical presentation
author Rodrigues, Paulo
author_facet Rodrigues, Paulo
Maltez, Fernando
Machado, João
Proença, Rui
author_role author
author2 Maltez, Fernando
Machado, João
Proença, Rui
author2_role author
author
author
dc.contributor.author.fl_str_mv Rodrigues, Paulo
Maltez, Fernando
Machado, João
Proença, Rui
dc.subject.por.fl_str_mv traço drepanocítico
nevrite óptica
sickle cell trait
optic nevritis
topic traço drepanocítico
nevrite óptica
sickle cell trait
optic nevritis
description Sickle cell anaemia is one of the oldest known haemoglobinopathies, occurs frequently and is spread worldwide. The syndrome is highly polymorphic with clinical features ranging from mild symptoms to severe presentations. Severe forms of the diseases are only frequent in the homozygotic form (SS) and double heterozygotes, while sickle cell carriers are generally assymptomatic. Ocular manifestations are frequent in sickle cell anaemia and SC disease, occurring very rarely in heterozygotes, as stated. The authors describe a severe clinical case of sickle cell trait in a young female patient, with exceptional ocular manifestations (bilateral optic nevritis). 
publishDate 2004
dc.date.none.fl_str_mv 2004-03-31
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://revista.spmi.pt/index.php/rpmi/article/view/1723
url https://revista.spmi.pt/index.php/rpmi/article/view/1723
dc.language.iso.fl_str_mv por
language por
dc.relation.none.fl_str_mv https://revista.spmi.pt/index.php/rpmi/article/view/1723
https://revista.spmi.pt/index.php/rpmi/article/view/1723/1192
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Sociedade Portuguesa de Medicina Interna
publisher.none.fl_str_mv Sociedade Portuguesa de Medicina Interna
dc.source.none.fl_str_mv Internal Medicine; Vol. 11 No. 1 (2004): Janeiro/ Março; 17-22
Medicina Interna; Vol. 11 N.º 1 (2004): Janeiro/ Março; 17-22
2183-9980
0872-671X
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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