Mucopolysaccharidosis VI: Evaluation After 2 Years of Treatment
Autor(a) principal: | |
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Data de Publicação: | 2015 |
Outros Autores: | , , , |
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=S2326-45942015000100701 |
Resumo: | Abstract Introduction: Mucopolysaccharidosis VI (MPS VI) is the result of the absence of arylsulfatase B leading to the abnormal lysosomal accumulation of glycosaminoglycans. Two different phenotypes have been described to date, namely, rapidly progressive and slowly progressive. Aim: To present the evolution of a slowly progressive phenotype of MPS VI in a patient after 2 years of enzyme replacement therapy. Case report: A 26-year-old man diagnosed with MPS VI at 9 years of age started enzyme replacement therapy with galsulfase due to cardiac, pulmonary, neurologic, and joint involvement. After 10 months of treatment, improvement in quality-of-life scales and walk test was evident. Because of persistent symptomatology associated with narrow cervical spinal canal, decompressive surgery was performed. After 2 years of treatment, there was a clear improvement in the respiratory, motor, and cardiac functions as well as in the spinal symptoms. Discussion: The evolution of our patient leads to the conclusion that the combined treatment of galasulfase and decompressive surgery should be indicated at an early stage in order to achieve best outcome for the patient. |
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Journal of Inborn Errors of Metabolism and Screening |
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Mucopolysaccharidosis VI: Evaluation After 2 Years of Treatmentspinal compressiongalsulfaseglycosaminoglycansdermatan sulfatemucopolysaccharidosis VIAbstract Introduction: Mucopolysaccharidosis VI (MPS VI) is the result of the absence of arylsulfatase B leading to the abnormal lysosomal accumulation of glycosaminoglycans. Two different phenotypes have been described to date, namely, rapidly progressive and slowly progressive. Aim: To present the evolution of a slowly progressive phenotype of MPS VI in a patient after 2 years of enzyme replacement therapy. Case report: A 26-year-old man diagnosed with MPS VI at 9 years of age started enzyme replacement therapy with galsulfase due to cardiac, pulmonary, neurologic, and joint involvement. After 10 months of treatment, improvement in quality-of-life scales and walk test was evident. Because of persistent symptomatology associated with narrow cervical spinal canal, decompressive surgery was performed. After 2 years of treatment, there was a clear improvement in the respiratory, motor, and cardiac functions as well as in the spinal symptoms. Discussion: The evolution of our patient leads to the conclusion that the combined treatment of galasulfase and decompressive surgery should be indicated at an early stage in order to achieve best outcome for the patient.Latin American Society Inborn Errors and Neonatal Screening (SLEIMPN); Instituto Genética para Todos (IGPT)2015-01-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942015000100701Journal of Inborn Errors of Metabolism and Screening v.3 2015reponame:Journal of Inborn Errors of Metabolism and Screeninginstname:Instituto Genética para Todos (IGPT)instacron:IGPT10.1177/2326409814567130info:eu-repo/semantics/openAccessPolitei,JuanSchenone,Andrea BeatrizGustavo,CabreraAlejandra,AntacleMarina,Szlagoeng2019-06-17T00:00:00Zoai:scielo:S2326-45942015000100701Revistahttp://jiems-journal.org/ONGhttps://old.scielo.br/oai/scielo-oai.phpjiems@jiems-journal.org||rgiugliani@hcpa.edu.br2326-45942326-4594opendoar:2019-06-17T00:00Journal of Inborn Errors of Metabolism and Screening - Instituto Genética para Todos (IGPT)false |
dc.title.none.fl_str_mv |
Mucopolysaccharidosis VI: Evaluation After 2 Years of Treatment |
title |
Mucopolysaccharidosis VI: Evaluation After 2 Years of Treatment |
spellingShingle |
Mucopolysaccharidosis VI: Evaluation After 2 Years of Treatment Politei,Juan spinal compression galsulfase glycosaminoglycans dermatan sulfate mucopolysaccharidosis VI |
title_short |
Mucopolysaccharidosis VI: Evaluation After 2 Years of Treatment |
title_full |
Mucopolysaccharidosis VI: Evaluation After 2 Years of Treatment |
title_fullStr |
Mucopolysaccharidosis VI: Evaluation After 2 Years of Treatment |
title_full_unstemmed |
Mucopolysaccharidosis VI: Evaluation After 2 Years of Treatment |
title_sort |
Mucopolysaccharidosis VI: Evaluation After 2 Years of Treatment |
author |
Politei,Juan |
author_facet |
Politei,Juan Schenone,Andrea Beatriz Gustavo,Cabrera Alejandra,Antacle Marina,Szlago |
author_role |
author |
author2 |
Schenone,Andrea Beatriz Gustavo,Cabrera Alejandra,Antacle Marina,Szlago |
author2_role |
author author author author |
dc.contributor.author.fl_str_mv |
Politei,Juan Schenone,Andrea Beatriz Gustavo,Cabrera Alejandra,Antacle Marina,Szlago |
dc.subject.por.fl_str_mv |
spinal compression galsulfase glycosaminoglycans dermatan sulfate mucopolysaccharidosis VI |
topic |
spinal compression galsulfase glycosaminoglycans dermatan sulfate mucopolysaccharidosis VI |
description |
Abstract Introduction: Mucopolysaccharidosis VI (MPS VI) is the result of the absence of arylsulfatase B leading to the abnormal lysosomal accumulation of glycosaminoglycans. Two different phenotypes have been described to date, namely, rapidly progressive and slowly progressive. Aim: To present the evolution of a slowly progressive phenotype of MPS VI in a patient after 2 years of enzyme replacement therapy. Case report: A 26-year-old man diagnosed with MPS VI at 9 years of age started enzyme replacement therapy with galsulfase due to cardiac, pulmonary, neurologic, and joint involvement. After 10 months of treatment, improvement in quality-of-life scales and walk test was evident. Because of persistent symptomatology associated with narrow cervical spinal canal, decompressive surgery was performed. After 2 years of treatment, there was a clear improvement in the respiratory, motor, and cardiac functions as well as in the spinal symptoms. Discussion: The evolution of our patient leads to the conclusion that the combined treatment of galasulfase and decompressive surgery should be indicated at an early stage in order to achieve best outcome for the patient. |
publishDate |
2015 |
dc.date.none.fl_str_mv |
2015-01-01 |
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=S2326-45942015000100701 |
url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942015000100701 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
10.1177/2326409814567130 |
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.3 2015 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 |
_version_ |
1754732519898480640 |