Bisalbuminemia: A Rare Variant of Albumin

Detalhes bibliográficos
Autor(a) principal: Garcez, Carla
Data de Publicação: 2017
Outros Autores: Carvalho, Susana
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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spelling 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
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identifier_str_mv oai:ojs.www.actamedicaportuguesa.com:article/7187
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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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dc.publisher.none.fl_str_mv Ordem dos Médicos
publisher.none.fl_str_mv 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
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