Phenotypic evolution in adrenoleukodystrophy.
Autor(a) principal: | |
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Data de Publicação: | 2003 |
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/1180 |
Resumo: | The X-linked adrenoleukodystrophy (ALD) is a genetic disease, caused by a defect mapped to Xq28. It is characterised by progressive demyelination of the cerebral white matter and adrenal insufficiency. The most important change that occurs is the accumulation of very long chain fatty acids (VLCFAs). The authors describe a patient whom the initial phenotype was Addison disease only (AO). With 21 years old he developed neurological complaints and the electrophysiological and neuroradiological studies performed, confirmed the phenotypic change from AO to pure Adrenomyeloneuropathy. Less than 2 years later, the clinical condition worsened and the magnetic resonance performed confirmed cerebral involvement by the disease. The authors point out the need to determine the levels of VLCFAs in all men with adrenal insufficiency. They also put much emphasis on the endocrinology and neurology following of any patient with ALD because of the possibility of a phenotypic change to occur. |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Phenotypic evolution in adrenoleukodystrophy.Evolução fenotípica na adrenoleucodistrofia.The X-linked adrenoleukodystrophy (ALD) is a genetic disease, caused by a defect mapped to Xq28. It is characterised by progressive demyelination of the cerebral white matter and adrenal insufficiency. The most important change that occurs is the accumulation of very long chain fatty acids (VLCFAs). The authors describe a patient whom the initial phenotype was Addison disease only (AO). With 21 years old he developed neurological complaints and the electrophysiological and neuroradiological studies performed, confirmed the phenotypic change from AO to pure Adrenomyeloneuropathy. Less than 2 years later, the clinical condition worsened and the magnetic resonance performed confirmed cerebral involvement by the disease. The authors point out the need to determine the levels of VLCFAs in all men with adrenal insufficiency. They also put much emphasis on the endocrinology and neurology following of any patient with ALD because of the possibility of a phenotypic change to occur.The X-linked adrenoleukodystrophy (ALD) is a genetic disease, caused by a defect mapped to Xq28. It is characterised by progressive demyelination of the cerebral white matter and adrenal insufficiency. The most important change that occurs is the accumulation of very long chain fatty acids (VLCFAs). The authors describe a patient whom the initial phenotype was Addison disease only (AO). With 21 years old he developed neurological complaints and the electrophysiological and neuroradiological studies performed, confirmed the phenotypic change from AO to pure Adrenomyeloneuropathy. Less than 2 years later, the clinical condition worsened and the magnetic resonance performed confirmed cerebral involvement by the disease. The authors point out the need to determine the levels of VLCFAs in all men with adrenal insufficiency. They also put much emphasis on the endocrinology and neurology following of any patient with ALD because of the possibility of a phenotypic change to occur.Ordem dos Médicos2003-08-31info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttps://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/1180oai:ojs.www.actamedicaportuguesa.com:article/1180Acta Médica Portuguesa; Vol. 16 No. 4 (2003): July-August; 285-8Acta Médica Portuguesa; Vol. 16 N.º 4 (2003): Julho-Agosto; 285-81646-07580870-399Xreponame: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/1180https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/1180/832Mendes, PaulaMeneses, IsabelMonteiro, LuisCoelho, TeresaVasconcelos, CristianaLemos, ManuelaFerreira, RitaSá Miranda, Maria Clarainfo:eu-repo/semantics/openAccess2022-12-20T10:57:34Zoai:ojs.www.actamedicaportuguesa.com:article/1180Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T16:17:00.741764Repositório 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 |
Phenotypic evolution in adrenoleukodystrophy. Evolução fenotípica na adrenoleucodistrofia. |
title |
Phenotypic evolution in adrenoleukodystrophy. |
spellingShingle |
Phenotypic evolution in adrenoleukodystrophy. Mendes, Paula |
title_short |
Phenotypic evolution in adrenoleukodystrophy. |
title_full |
Phenotypic evolution in adrenoleukodystrophy. |
title_fullStr |
Phenotypic evolution in adrenoleukodystrophy. |
title_full_unstemmed |
Phenotypic evolution in adrenoleukodystrophy. |
title_sort |
Phenotypic evolution in adrenoleukodystrophy. |
author |
Mendes, Paula |
author_facet |
Mendes, Paula Meneses, Isabel Monteiro, Luis Coelho, Teresa Vasconcelos, Cristiana Lemos, Manuela Ferreira, Rita Sá Miranda, Maria Clara |
author_role |
author |
author2 |
Meneses, Isabel Monteiro, Luis Coelho, Teresa Vasconcelos, Cristiana Lemos, Manuela Ferreira, Rita Sá Miranda, Maria Clara |
author2_role |
author author author author author author author |
dc.contributor.author.fl_str_mv |
Mendes, Paula Meneses, Isabel Monteiro, Luis Coelho, Teresa Vasconcelos, Cristiana Lemos, Manuela Ferreira, Rita Sá Miranda, Maria Clara |
description |
The X-linked adrenoleukodystrophy (ALD) is a genetic disease, caused by a defect mapped to Xq28. It is characterised by progressive demyelination of the cerebral white matter and adrenal insufficiency. The most important change that occurs is the accumulation of very long chain fatty acids (VLCFAs). The authors describe a patient whom the initial phenotype was Addison disease only (AO). With 21 years old he developed neurological complaints and the electrophysiological and neuroradiological studies performed, confirmed the phenotypic change from AO to pure Adrenomyeloneuropathy. Less than 2 years later, the clinical condition worsened and the magnetic resonance performed confirmed cerebral involvement by the disease. The authors point out the need to determine the levels of VLCFAs in all men with adrenal insufficiency. They also put much emphasis on the endocrinology and neurology following of any patient with ALD because of the possibility of a phenotypic change to occur. |
publishDate |
2003 |
dc.date.none.fl_str_mv |
2003-08-31 |
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://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/1180 oai:ojs.www.actamedicaportuguesa.com:article/1180 |
url |
https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/1180 |
identifier_str_mv |
oai:ojs.www.actamedicaportuguesa.com:article/1180 |
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/1180 https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/1180/832 |
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info:eu-repo/semantics/openAccess |
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openAccess |
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application/pdf |
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Ordem dos Médicos |
publisher.none.fl_str_mv |
Ordem dos Médicos |
dc.source.none.fl_str_mv |
Acta Médica Portuguesa; Vol. 16 No. 4 (2003): July-August; 285-8 Acta Médica Portuguesa; Vol. 16 N.º 4 (2003): Julho-Agosto; 285-8 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 |
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RCAAP |
reponame_str |
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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