A family with a rare disease.
Autor(a) principal: | |
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Data de Publicação: | 2010 |
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/628 |
Resumo: | Fabry disease (FD) is a rare disorder resulting from mutations of the alpha-Galactosidase A lysosomal enzyme gene. Accumulation of enzyme substrates leads to multisystemic clinical manifestations and multiorgan progressive damage with high morbidity and mortality. Recombinant enzyme replacement therapy (RERT) now available aims to delay or even avoid the complications of FD. The index case was a 50-year-old man with bone pain since childhood, coarse facies, angiokeratomas, anemia, renal failure, proteinuria, sinus node disease, valvular disease and massive left ventricular hypertrophy and brain ischemic alterations. FD diagnosis was confirmed during hospital admission for bacterial endocarditis leading to death. Family screening revealed an affected brother with acroparesthesia, chronic cough, sinus bradycardia, long QT interval and near-nephrotic proteinuria, now under RERT. Their mother was not screened due to stroke sequelae. This report illustrates the need for early diagnosis, family screening and treatment, aiming to change the natural history of FD. |
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A family with a rare disease.Uma família com uma doença rara.Fabry disease (FD) is a rare disorder resulting from mutations of the alpha-Galactosidase A lysosomal enzyme gene. Accumulation of enzyme substrates leads to multisystemic clinical manifestations and multiorgan progressive damage with high morbidity and mortality. Recombinant enzyme replacement therapy (RERT) now available aims to delay or even avoid the complications of FD. The index case was a 50-year-old man with bone pain since childhood, coarse facies, angiokeratomas, anemia, renal failure, proteinuria, sinus node disease, valvular disease and massive left ventricular hypertrophy and brain ischemic alterations. FD diagnosis was confirmed during hospital admission for bacterial endocarditis leading to death. Family screening revealed an affected brother with acroparesthesia, chronic cough, sinus bradycardia, long QT interval and near-nephrotic proteinuria, now under RERT. Their mother was not screened due to stroke sequelae. This report illustrates the need for early diagnosis, family screening and treatment, aiming to change the natural history of FD.Fabry disease (FD) is a rare disorder resulting from mutations of the alpha-Galactosidase A lysosomal enzyme gene. Accumulation of enzyme substrates leads to multisystemic clinical manifestations and multiorgan progressive damage with high morbidity and mortality. Recombinant enzyme replacement therapy (RERT) now available aims to delay or even avoid the complications of FD. The index case was a 50-year-old man with bone pain since childhood, coarse facies, angiokeratomas, anemia, renal failure, proteinuria, sinus node disease, valvular disease and massive left ventricular hypertrophy and brain ischemic alterations. FD diagnosis was confirmed during hospital admission for bacterial endocarditis leading to death. Family screening revealed an affected brother with acroparesthesia, chronic cough, sinus bradycardia, long QT interval and near-nephrotic proteinuria, now under RERT. Their mother was not screened due to stroke sequelae. This report illustrates the need for early diagnosis, family screening and treatment, aiming to change the natural history of FD.Ordem dos Médicos2010-06-14info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttps://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/628oai:ojs.www.actamedicaportuguesa.com:article/628Acta Médica Portuguesa; Vol. 23 No. 3 (2010): May-June; 499-504Acta Médica Portuguesa; Vol. 23 N.º 3 (2010): Maio-Junho; 499-5041646-07580870-399Xreponame: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/628https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/628/312Capelo, JoanaSoares, CarlosCarragoso, AdelinoRibeiro, PedroGirão, FernandoHenriques, Pedroinfo:eu-repo/semantics/openAccess2022-12-20T10:56:38Zoai:ojs.www.actamedicaportuguesa.com:article/628Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T16:16:39.048029Repositório 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 |
A family with a rare disease. Uma família com uma doença rara. |
title |
A family with a rare disease. |
spellingShingle |
A family with a rare disease. Capelo, Joana |
title_short |
A family with a rare disease. |
title_full |
A family with a rare disease. |
title_fullStr |
A family with a rare disease. |
title_full_unstemmed |
A family with a rare disease. |
title_sort |
A family with a rare disease. |
author |
Capelo, Joana |
author_facet |
Capelo, Joana Soares, Carlos Carragoso, Adelino Ribeiro, Pedro Girão, Fernando Henriques, Pedro |
author_role |
author |
author2 |
Soares, Carlos Carragoso, Adelino Ribeiro, Pedro Girão, Fernando Henriques, Pedro |
author2_role |
author author author author author |
dc.contributor.author.fl_str_mv |
Capelo, Joana Soares, Carlos Carragoso, Adelino Ribeiro, Pedro Girão, Fernando Henriques, Pedro |
description |
Fabry disease (FD) is a rare disorder resulting from mutations of the alpha-Galactosidase A lysosomal enzyme gene. Accumulation of enzyme substrates leads to multisystemic clinical manifestations and multiorgan progressive damage with high morbidity and mortality. Recombinant enzyme replacement therapy (RERT) now available aims to delay or even avoid the complications of FD. The index case was a 50-year-old man with bone pain since childhood, coarse facies, angiokeratomas, anemia, renal failure, proteinuria, sinus node disease, valvular disease and massive left ventricular hypertrophy and brain ischemic alterations. FD diagnosis was confirmed during hospital admission for bacterial endocarditis leading to death. Family screening revealed an affected brother with acroparesthesia, chronic cough, sinus bradycardia, long QT interval and near-nephrotic proteinuria, now under RERT. Their mother was not screened due to stroke sequelae. This report illustrates the need for early diagnosis, family screening and treatment, aiming to change the natural history of FD. |
publishDate |
2010 |
dc.date.none.fl_str_mv |
2010-06-14 |
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://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/628 oai:ojs.www.actamedicaportuguesa.com:article/628 |
url |
https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/628 |
identifier_str_mv |
oai:ojs.www.actamedicaportuguesa.com:article/628 |
dc.language.iso.fl_str_mv |
por |
language |
por |
dc.relation.none.fl_str_mv |
https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/628 https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/628/312 |
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info:eu-repo/semantics/openAccess |
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openAccess |
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application/pdf |
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. 23 No. 3 (2010): May-June; 499-504 Acta Médica Portuguesa; Vol. 23 N.º 3 (2010): Maio-Junho; 499-504 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 |
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) |
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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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1799130620005187584 |