Bisalbuminemia: A Rare Variant of Albumin
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Data de Publicação: | 2017 |
Outros Autores: | |
Tipo de documento: | Artigo |
Idioma: | por |
Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
Texto Completo: | https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/7187 |
Resumo: | Introduction: Bisalbuminemia is a qualitative disorder of albumin and it is defined by the coexistence in the same individual of two types of serum albumin with different electrophoretic mobility. There are two forms: hereditary and permanent, or acquired and transient.Case Report: Girl, 17-years-old, referenced to the hospital consult after incidental finding of bisalbuminemia detected in plasma protein electrophoresis performed within the investigation of diminished muscular tone in the lower limbs. Physical examination was normal. Secondary causes of bisalbuminemia were excluded. Later, it was confirmed the same disorder in plasma protein electrophoresis performed to her 14-years-old brother and mother.Discussion: We describe a rare case of hereditary bisalbuminemia in a portuguese family. In general, this condition shows no pathological significance, however it is of interest to the clinicians the knowledge of this analytic change for better orientation of their patients. |
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Bisalbuminemia: A Rare Variant of AlbuminBisalbuminémia: Uma Variante Rara da AlbuminaAlbuminsBlood Protein DisordersAlbuminaAlterações Proteínas SanguíneasIntroduction: Bisalbuminemia is a qualitative disorder of albumin and it is defined by the coexistence in the same individual of two types of serum albumin with different electrophoretic mobility. There are two forms: hereditary and permanent, or acquired and transient.Case Report: Girl, 17-years-old, referenced to the hospital consult after incidental finding of bisalbuminemia detected in plasma protein electrophoresis performed within the investigation of diminished muscular tone in the lower limbs. Physical examination was normal. Secondary causes of bisalbuminemia were excluded. Later, it was confirmed the same disorder in plasma protein electrophoresis performed to her 14-years-old brother and mother.Discussion: We describe a rare case of hereditary bisalbuminemia in a portuguese family. In general, this condition shows no pathological significance, however it is of interest to the clinicians the knowledge of this analytic change for better orientation of their patients.Introdução: A bisalbuminémia é uma alteração qualitativa da albumina e define-se pela coexistência no mesmo indivíduo de dois tipos de albumina sérica com mobilidade eletroforética diferente. Existem duas formas: hereditária e permanente ou adquirida e transitória.Caso Clínico: Adolescente, sexo feminino, 17 anos, referenciada à consulta hospitalar por achado incidental de bisalbuminémia detetada na eletroforese de proteínas plasmáticas, realizada em contexto de noção de diminuição da força dos membros inferiores. O exame objetivo não apresentava alterações. Foi excluída causa secundária de bisalbuminémia. Posteriormente, confirmou-se a mesma alteração em eletroforese de proteínas plasmáticas realizada ao irmão de 14 anos e à mãe.Discussão: Descrevemos um caso raro de bisalbuminémia hereditária numa família portuguesa. Em geral não apresenta significado patológico, no entanto tem interesse para o clínico o conhecimento desta alteração analítica para melhor orientar e esclarecer os seus doentes.Ordem dos Médicos2017-04-28info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfimage/jpegimage/jpegapplication/mswordapplication/mswordapplication/pdfhttps://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/7187oai:ojs.www.actamedicaportuguesa.com:article/7187Acta Médica Portuguesa; Vol. 30 No. 4 (2017): April; 330-333Acta Médica Portuguesa; Vol. 30 N.º 4 (2017): Abril; 330-3331646-07580870-399Xreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAPporhttps://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/7187https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/7187/5008https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/7187/8070https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/7187/8071https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/7187/8641https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/7187/8820https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/7187/9183Direitos de Autor (c) 2017 Acta Médica Portuguesainfo:eu-repo/semantics/openAccessGarcez, CarlaCarvalho, Susana2022-12-20T11:05:07Zoai:ojs.www.actamedicaportuguesa.com:article/7187Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T16:19:25.265088Repositório 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 |
Bisalbuminemia: A Rare Variant of Albumin Bisalbuminémia: Uma Variante Rara da Albumina |
title |
Bisalbuminemia: A Rare Variant of Albumin |
spellingShingle |
Bisalbuminemia: A Rare Variant of Albumin Garcez, Carla Albumins Blood Protein Disorders Albumina Alterações Proteínas Sanguíneas |
title_short |
Bisalbuminemia: A Rare Variant of Albumin |
title_full |
Bisalbuminemia: A Rare Variant of Albumin |
title_fullStr |
Bisalbuminemia: A Rare Variant of Albumin |
title_full_unstemmed |
Bisalbuminemia: A Rare Variant of Albumin |
title_sort |
Bisalbuminemia: A Rare Variant of Albumin |
author |
Garcez, Carla |
author_facet |
Garcez, Carla Carvalho, Susana |
author_role |
author |
author2 |
Carvalho, Susana |
author2_role |
author |
dc.contributor.author.fl_str_mv |
Garcez, Carla Carvalho, Susana |
dc.subject.por.fl_str_mv |
Albumins Blood Protein Disorders Albumina Alterações Proteínas Sanguíneas |
topic |
Albumins Blood Protein Disorders Albumina Alterações Proteínas Sanguíneas |
description |
Introduction: Bisalbuminemia is a qualitative disorder of albumin and it is defined by the coexistence in the same individual of two types of serum albumin with different electrophoretic mobility. There are two forms: hereditary and permanent, or acquired and transient.Case Report: Girl, 17-years-old, referenced to the hospital consult after incidental finding of bisalbuminemia detected in plasma protein electrophoresis performed within the investigation of diminished muscular tone in the lower limbs. Physical examination was normal. Secondary causes of bisalbuminemia were excluded. Later, it was confirmed the same disorder in plasma protein electrophoresis performed to her 14-years-old brother and mother.Discussion: We describe a rare case of hereditary bisalbuminemia in a portuguese family. In general, this condition shows no pathological significance, however it is of interest to the clinicians the knowledge of this analytic change for better orientation of their patients. |
publishDate |
2017 |
dc.date.none.fl_str_mv |
2017-04-28 |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
format |
article |
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publishedVersion |
dc.identifier.uri.fl_str_mv |
https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/7187 oai:ojs.www.actamedicaportuguesa.com:article/7187 |
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https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/7187 |
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oai:ojs.www.actamedicaportuguesa.com:article/7187 |
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por |
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por |
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https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/7187 https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/7187/5008 https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/7187/8070 https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/7187/8071 https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/7187/8641 https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/7187/8820 https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/7187/9183 |
dc.rights.driver.fl_str_mv |
Direitos de Autor (c) 2017 Acta Médica Portuguesa info:eu-repo/semantics/openAccess |
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Direitos de Autor (c) 2017 Acta Médica Portuguesa |
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openAccess |
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application/pdf image/jpeg image/jpeg application/msword application/msword application/pdf |
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Ordem dos Médicos |
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Ordem dos Médicos |
dc.source.none.fl_str_mv |
Acta Médica Portuguesa; Vol. 30 No. 4 (2017): April; 330-333 Acta Médica Portuguesa; Vol. 30 N.º 4 (2017): Abril; 330-333 1646-0758 0870-399X reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação instacron:RCAAP |
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Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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RCAAP |
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RCAAP |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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