Anderson-Fabry Disease: A Rare Disease That Mimics Common Cardiac, Neurological, Renal, and Other Disorders: Approach for the Differential Diagnosis and Follow-Up

Detalhes bibliográficos
Autor(a) principal: Beirão,Idalina
Data de Publicação: 2016
Outros Autores: Cabrita,Ana, Torres,Márcia, Silva,Fernando, Aguiar,Patricio, Gomes,Ana Marta
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Journal of Inborn Errors of Metabolism and Screening
Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942016000100702
Resumo: Abstract Anderson-Fabry disease (AFD) is a rare inherited X-linked disease, caused by mutations of the gene encoding the α-galactosidase A enzyme, that leads to a deficiency or absence of its activity with consequent accumulation of globotriaosylceramide (Gb3) and other glycosphingolipids in the lysosomes of several cells types in the organism, mainly the endothelial, nervous system, cardiac, and renal cells. Its heterogeneous and nonspecific presentation, similar to other common pathologies, delays the diagnosis and leads to incorrect therapy. In the presence of attenuated phenotypes with predominant involvement of an organ, it is even harder to identify patients with AFD. It is highly important to be aware of this diagnosis, since enzyme replacement therapy is currently available. This review aims to approach the clinical manifestations of AFD and the phenotypes related to the differential diagnosis for each manifestation and the frequency of follow-up recommended.
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spelling Anderson-Fabry Disease: A Rare Disease That Mimics Common Cardiac, Neurological, Renal, and Other Disorders: Approach for the Differential Diagnosis and Follow-UpAnderson-Fabry diseasealpha-galactosidase Aproteinurialeucoencephalopathyangiokeratomachronic diarrheapersistent abdominal painacroparesthesiahypohidrosisAbstract Anderson-Fabry disease (AFD) is a rare inherited X-linked disease, caused by mutations of the gene encoding the α-galactosidase A enzyme, that leads to a deficiency or absence of its activity with consequent accumulation of globotriaosylceramide (Gb3) and other glycosphingolipids in the lysosomes of several cells types in the organism, mainly the endothelial, nervous system, cardiac, and renal cells. Its heterogeneous and nonspecific presentation, similar to other common pathologies, delays the diagnosis and leads to incorrect therapy. In the presence of attenuated phenotypes with predominant involvement of an organ, it is even harder to identify patients with AFD. It is highly important to be aware of this diagnosis, since enzyme replacement therapy is currently available. This review aims to approach the clinical manifestations of AFD and the phenotypes related to the differential diagnosis for each manifestation and the frequency of follow-up recommended.Latin American Society Inborn Errors and Neonatal Screening (SLEIMPN); Instituto Genética para Todos (IGPT)2016-01-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942016000100702Journal of Inborn Errors of Metabolism and Screening v.4 2016reponame:Journal of Inborn Errors of Metabolism and Screeninginstname:Instituto Genética para Todos (IGPT)instacron:IGPT10.1177/2326409816669372info:eu-repo/semantics/openAccessBeirão,IdalinaCabrita,AnaTorres,MárciaSilva,FernandoAguiar,PatricioGomes,Ana Martaeng2019-05-28T00:00:00Zoai:scielo:S2326-45942016000100702Revistahttp://jiems-journal.org/ONGhttps://old.scielo.br/oai/scielo-oai.phpjiems@jiems-journal.org||rgiugliani@hcpa.edu.br2326-45942326-4594opendoar:2019-05-28T00:00Journal of Inborn Errors of Metabolism and Screening - Instituto Genética para Todos (IGPT)false
dc.title.none.fl_str_mv Anderson-Fabry Disease: A Rare Disease That Mimics Common Cardiac, Neurological, Renal, and Other Disorders: Approach for the Differential Diagnosis and Follow-Up
title Anderson-Fabry Disease: A Rare Disease That Mimics Common Cardiac, Neurological, Renal, and Other Disorders: Approach for the Differential Diagnosis and Follow-Up
spellingShingle Anderson-Fabry Disease: A Rare Disease That Mimics Common Cardiac, Neurological, Renal, and Other Disorders: Approach for the Differential Diagnosis and Follow-Up
Beirão,Idalina
Anderson-Fabry disease
alpha-galactosidase A
proteinuria
leucoencephalopathy
angiokeratoma
chronic diarrhea
persistent abdominal pain
acroparesthesia
hypohidrosis
title_short Anderson-Fabry Disease: A Rare Disease That Mimics Common Cardiac, Neurological, Renal, and Other Disorders: Approach for the Differential Diagnosis and Follow-Up
title_full Anderson-Fabry Disease: A Rare Disease That Mimics Common Cardiac, Neurological, Renal, and Other Disorders: Approach for the Differential Diagnosis and Follow-Up
title_fullStr Anderson-Fabry Disease: A Rare Disease That Mimics Common Cardiac, Neurological, Renal, and Other Disorders: Approach for the Differential Diagnosis and Follow-Up
title_full_unstemmed Anderson-Fabry Disease: A Rare Disease That Mimics Common Cardiac, Neurological, Renal, and Other Disorders: Approach for the Differential Diagnosis and Follow-Up
title_sort Anderson-Fabry Disease: A Rare Disease That Mimics Common Cardiac, Neurological, Renal, and Other Disorders: Approach for the Differential Diagnosis and Follow-Up
author Beirão,Idalina
author_facet Beirão,Idalina
Cabrita,Ana
Torres,Márcia
Silva,Fernando
Aguiar,Patricio
Gomes,Ana Marta
author_role author
author2 Cabrita,Ana
Torres,Márcia
Silva,Fernando
Aguiar,Patricio
Gomes,Ana Marta
author2_role author
author
author
author
author
dc.contributor.author.fl_str_mv Beirão,Idalina
Cabrita,Ana
Torres,Márcia
Silva,Fernando
Aguiar,Patricio
Gomes,Ana Marta
dc.subject.por.fl_str_mv Anderson-Fabry disease
alpha-galactosidase A
proteinuria
leucoencephalopathy
angiokeratoma
chronic diarrhea
persistent abdominal pain
acroparesthesia
hypohidrosis
topic Anderson-Fabry disease
alpha-galactosidase A
proteinuria
leucoencephalopathy
angiokeratoma
chronic diarrhea
persistent abdominal pain
acroparesthesia
hypohidrosis
description Abstract Anderson-Fabry disease (AFD) is a rare inherited X-linked disease, caused by mutations of the gene encoding the α-galactosidase A enzyme, that leads to a deficiency or absence of its activity with consequent accumulation of globotriaosylceramide (Gb3) and other glycosphingolipids in the lysosomes of several cells types in the organism, mainly the endothelial, nervous system, cardiac, and renal cells. Its heterogeneous and nonspecific presentation, similar to other common pathologies, delays the diagnosis and leads to incorrect therapy. In the presence of attenuated phenotypes with predominant involvement of an organ, it is even harder to identify patients with AFD. It is highly important to be aware of this diagnosis, since enzyme replacement therapy is currently available. This review aims to approach the clinical manifestations of AFD and the phenotypes related to the differential diagnosis for each manifestation and the frequency of follow-up recommended.
publishDate 2016
dc.date.none.fl_str_mv 2016-01-01
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942016000100702
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942016000100702
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1177/2326409816669372
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv text/html
dc.publisher.none.fl_str_mv Latin American Society Inborn Errors and Neonatal Screening (SLEIMPN); Instituto Genética para Todos (IGPT)
publisher.none.fl_str_mv Latin American Society Inborn Errors and Neonatal Screening (SLEIMPN); Instituto Genética para Todos (IGPT)
dc.source.none.fl_str_mv Journal of Inborn Errors of Metabolism and Screening v.4 2016
reponame:Journal of Inborn Errors of Metabolism and Screening
instname:Instituto Genética para Todos (IGPT)
instacron:IGPT
instname_str Instituto Genética para Todos (IGPT)
instacron_str IGPT
institution IGPT
reponame_str Journal of Inborn Errors of Metabolism and Screening
collection Journal of Inborn Errors of Metabolism and Screening
repository.name.fl_str_mv Journal of Inborn Errors of Metabolism and Screening - Instituto Genética para Todos (IGPT)
repository.mail.fl_str_mv jiems@jiems-journal.org||rgiugliani@hcpa.edu.br
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