Fabry disease: Treatment and diagnosis

Autores
Rozenfeld, Paula Adriana
Año de publicación
2009
Idioma
inglés
Tipo de recurso
artículo
Estado
versión publicada
Descripción
Fabry disease is an X-linked lysosomal disorder that results from a deficiency of the lysosomal enzyme α-galactosidase A leading to accumulation of glycolipids, mainly globotriaosylceramide in the cells from different tissues. Classical Fabry disease affects various organs. Clinical manifestations start at early age and include angiokeratoma, acroparesthesia, hypohydrosis, heat/exercise intolerance, gastrointestinal pain, diarrhea, and fever. The main complications of Fabry disease are more prominent after the age of 30 when kidney, heart, and/or cerebrovascular disorders appear. Most of the heterozygous females are symptomatic. Enzyme replacement therapy (ERT) is the only specific treatment for Fabry disease. The beneficial effect of ERT on different organs/systems has been extensively evaluated. Quality of life of patients receiving ERT is improved. Enzyme replacement stabilizes or slows the decline in renal function and reduces left ventricular hypertrophy. Fabry disease may be underdiagnosed because of nonspecific and multiorgan symptoms. Different screening strategies have been carried out in different at-risk populations in order to detect undiagnosed Fabry patients. An increasing knowledge about Fabry disease within the medical community increases the chances of patients to receive a timely diagnosis and, consequently, to access the appropriate therapy.
Fil: Rozenfeld, Paula Adriana. Universidad Nacional de La Plata. Facultad de Ciencias Exactas. Departamento de Ciencias Biológicas. Laboratorio de Investigaciones del Sistema Inmune; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata; Argentina
Materia
Α-GALACTOSIDASE A
DIAGNOSIS
ENZYME REPLACEMENT THERAPY
FABRY DISEASE
GLOBOTRIAOSYLCERAMIDE
LYSOSOMAL STORAGE DISORDERS
Nivel de accesibilidad
acceso abierto
Condiciones de uso
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
Repositorio
CONICET Digital (CONICET)
Institución
Consejo Nacional de Investigaciones Científicas y Técnicas
OAI Identificador
oai:ri.conicet.gov.ar:11336/148787
Acceder
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network_acronym_str CONICETDig
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network_name_str CONICET Digital (CONICET)
spelling Fabry disease: Treatment and diagnosisRozenfeld, Paula AdrianaΑ-GALACTOSIDASE ADIAGNOSISENZYME REPLACEMENT THERAPYFABRY DISEASEGLOBOTRIAOSYLCERAMIDELYSOSOMAL STORAGE DISORDERShttps://purl.org/becyt/ford/3.1https://purl.org/becyt/ford/3Fabry disease is an X-linked lysosomal disorder that results from a deficiency of the lysosomal enzyme α-galactosidase A leading to accumulation of glycolipids, mainly globotriaosylceramide in the cells from different tissues. Classical Fabry disease affects various organs. Clinical manifestations start at early age and include angiokeratoma, acroparesthesia, hypohydrosis, heat/exercise intolerance, gastrointestinal pain, diarrhea, and fever. The main complications of Fabry disease are more prominent after the age of 30 when kidney, heart, and/or cerebrovascular disorders appear. Most of the heterozygous females are symptomatic. Enzyme replacement therapy (ERT) is the only specific treatment for Fabry disease. The beneficial effect of ERT on different organs/systems has been extensively evaluated. Quality of life of patients receiving ERT is improved. Enzyme replacement stabilizes or slows the decline in renal function and reduces left ventricular hypertrophy. Fabry disease may be underdiagnosed because of nonspecific and multiorgan symptoms. Different screening strategies have been carried out in different at-risk populations in order to detect undiagnosed Fabry patients. An increasing knowledge about Fabry disease within the medical community increases the chances of patients to receive a timely diagnosis and, consequently, to access the appropriate therapy.Fil: Rozenfeld, Paula Adriana. Universidad Nacional de La Plata. Facultad de Ciencias Exactas. Departamento de Ciencias Biológicas. Laboratorio de Investigaciones del Sistema Inmune; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata; ArgentinaJohn Wiley & Sons Inc2009-11info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/148787Rozenfeld, Paula Adriana; Fabry disease: Treatment and diagnosis; John Wiley & Sons Inc; IUBMB Life; 61; 11; 11-2009; 1043-10501521-65431521-6551CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/url/https://iubmb.onlinelibrary.wiley.com/doi/10.1002/iub.257info:eu-repo/semantics/altIdentifier/doi/10.1002/iub.257info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-09-29T10:24:44Zoai:ri.conicet.gov.ar:11336/148787instacron:CONICETInstitucionalhttp://ri.conicet.gov.ar/Organismo científico-tecnológicoNo correspondehttp://ri.conicet.gov.ar/oai/requestdasensio@conicet.gov.ar; lcarlino@conicet.gov.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:34982025-09-29 10:24:45.184CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
dc.title.none.fl_str_mv Fabry disease: Treatment and diagnosis
title Fabry disease: Treatment and diagnosis
spellingShingle Fabry disease: Treatment and diagnosis
Rozenfeld, Paula Adriana
Α-GALACTOSIDASE A
DIAGNOSIS
ENZYME REPLACEMENT THERAPY
FABRY DISEASE
GLOBOTRIAOSYLCERAMIDE
LYSOSOMAL STORAGE DISORDERS
title_short Fabry disease: Treatment and diagnosis
title_full Fabry disease: Treatment and diagnosis
title_fullStr Fabry disease: Treatment and diagnosis
title_full_unstemmed Fabry disease: Treatment and diagnosis
title_sort Fabry disease: Treatment and diagnosis
dc.creator.none.fl_str_mv Rozenfeld, Paula Adriana
author Rozenfeld, Paula Adriana
author_facet Rozenfeld, Paula Adriana
author_role author
dc.subject.none.fl_str_mv Α-GALACTOSIDASE A
DIAGNOSIS
ENZYME REPLACEMENT THERAPY
FABRY DISEASE
GLOBOTRIAOSYLCERAMIDE
LYSOSOMAL STORAGE DISORDERS
topic Α-GALACTOSIDASE A
DIAGNOSIS
ENZYME REPLACEMENT THERAPY
FABRY DISEASE
GLOBOTRIAOSYLCERAMIDE
LYSOSOMAL STORAGE DISORDERS
purl_subject.fl_str_mv https://purl.org/becyt/ford/3.1
https://purl.org/becyt/ford/3
dc.description.none.fl_txt_mv Fabry disease is an X-linked lysosomal disorder that results from a deficiency of the lysosomal enzyme α-galactosidase A leading to accumulation of glycolipids, mainly globotriaosylceramide in the cells from different tissues. Classical Fabry disease affects various organs. Clinical manifestations start at early age and include angiokeratoma, acroparesthesia, hypohydrosis, heat/exercise intolerance, gastrointestinal pain, diarrhea, and fever. The main complications of Fabry disease are more prominent after the age of 30 when kidney, heart, and/or cerebrovascular disorders appear. Most of the heterozygous females are symptomatic. Enzyme replacement therapy (ERT) is the only specific treatment for Fabry disease. The beneficial effect of ERT on different organs/systems has been extensively evaluated. Quality of life of patients receiving ERT is improved. Enzyme replacement stabilizes or slows the decline in renal function and reduces left ventricular hypertrophy. Fabry disease may be underdiagnosed because of nonspecific and multiorgan symptoms. Different screening strategies have been carried out in different at-risk populations in order to detect undiagnosed Fabry patients. An increasing knowledge about Fabry disease within the medical community increases the chances of patients to receive a timely diagnosis and, consequently, to access the appropriate therapy.
Fil: Rozenfeld, Paula Adriana. Universidad Nacional de La Plata. Facultad de Ciencias Exactas. Departamento de Ciencias Biológicas. Laboratorio de Investigaciones del Sistema Inmune; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata; Argentina
description Fabry disease is an X-linked lysosomal disorder that results from a deficiency of the lysosomal enzyme α-galactosidase A leading to accumulation of glycolipids, mainly globotriaosylceramide in the cells from different tissues. Classical Fabry disease affects various organs. Clinical manifestations start at early age and include angiokeratoma, acroparesthesia, hypohydrosis, heat/exercise intolerance, gastrointestinal pain, diarrhea, and fever. The main complications of Fabry disease are more prominent after the age of 30 when kidney, heart, and/or cerebrovascular disorders appear. Most of the heterozygous females are symptomatic. Enzyme replacement therapy (ERT) is the only specific treatment for Fabry disease. The beneficial effect of ERT on different organs/systems has been extensively evaluated. Quality of life of patients receiving ERT is improved. Enzyme replacement stabilizes or slows the decline in renal function and reduces left ventricular hypertrophy. Fabry disease may be underdiagnosed because of nonspecific and multiorgan symptoms. Different screening strategies have been carried out in different at-risk populations in order to detect undiagnosed Fabry patients. An increasing knowledge about Fabry disease within the medical community increases the chances of patients to receive a timely diagnosis and, consequently, to access the appropriate therapy.
publishDate 2009
dc.date.none.fl_str_mv 2009-11
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
http://purl.org/coar/resource_type/c_6501
info:ar-repo/semantics/articulo
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/11336/148787
Rozenfeld, Paula Adriana; Fabry disease: Treatment and diagnosis; John Wiley & Sons Inc; IUBMB Life; 61; 11; 11-2009; 1043-1050
1521-6543
1521-6551
CONICET Digital
CONICET
url http://hdl.handle.net/11336/148787
identifier_str_mv Rozenfeld, Paula Adriana; Fabry disease: Treatment and diagnosis; John Wiley & Sons Inc; IUBMB Life; 61; 11; 11-2009; 1043-1050
1521-6543
1521-6551
CONICET Digital
CONICET
dc.language.none.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv info:eu-repo/semantics/altIdentifier/url/https://iubmb.onlinelibrary.wiley.com/doi/10.1002/iub.257
info:eu-repo/semantics/altIdentifier/doi/10.1002/iub.257
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
eu_rights_str_mv openAccess
rights_invalid_str_mv https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.format.none.fl_str_mv application/pdf
application/pdf
dc.publisher.none.fl_str_mv John Wiley & Sons Inc
publisher.none.fl_str_mv John Wiley & Sons Inc
dc.source.none.fl_str_mv reponame:CONICET Digital (CONICET)
instname:Consejo Nacional de Investigaciones Científicas y Técnicas
reponame_str CONICET Digital (CONICET)
collection CONICET Digital (CONICET)
instname_str Consejo Nacional de Investigaciones Científicas y Técnicas
repository.name.fl_str_mv CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicas
repository.mail.fl_str_mv dasensio@conicet.gov.ar; lcarlino@conicet.gov.ar
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score 13.070432

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