Diagnostic and treatment strategies in mucopolysaccharidosis VI

Detalhes bibliográficos
Autor(a) principal: Vairo, Filippo Pinto e
Data de Publicação: 2015
Outros Autores: Federhen, Andressa, Baldo, Guilherme, Burin, Maira Graeff, Riegel, Mariluce, Leistner-Segal, Sandra, Giugliani, Roberto
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Institucional da UFRGS
Texto Completo: http://hdl.handle.net/10183/194311
Resumo: Mucopolysaccharidosis VI (MPS VI) is a very rare autosomal recessive disorder caused by mutations in the ARSB gene, which lead to deficient activity of the lysosomal enzyme ASB. This enzyme is important for the breakdown of the glycosaminoglycans (GAGs) dermatan sulfate and chondroitin sulfate, which accumulate in body tissues and organs of MPS VI patients. The storage of GAGs (especially dermatan sulfate) causes bone dysplasia, joint restriction, organomegaly, heart disease, and corneal clouding, among several other problems, and reduced life span. Despite the fact that most cases are severe, there is a spectrum of severity and some cases are so attenuated that diagnosis is made late in life. Although the analysis of urinary GAGs and/or the measurement of enzyme activity in dried blood spots are useful screening methods, the diagnosis is based in the demonstration of the enzyme deficiency in leucocytes or fibroblasts, and/or in the identification of pathogenic mutations in the ARSB gene. Specific treatment with enzyme replacement has been available since 2005. It is safe and effective, bringing measurable benefits and increased survival to patients. As several evidences indicate that early initiation of therapy may lead to a better outcome, newborn screening is being considered for this condition, and it is already in place in selected areas where the incidence of MPS VI is increased. However, as enzyme replacement therapy is not curative, associated therapies should be considered, and research on innovative therapies continues. The management of affected patients by a multidisciplinary team with experience in MPS diseases is highly recommended.
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spelling Vairo, Filippo Pinto eFederhen, AndressaBaldo, GuilhermeBurin, Maira GraeffRiegel, MariluceLeistner-Segal, SandraGiugliani, Roberto2019-05-17T02:38:29Z20151178-704Xhttp://hdl.handle.net/10183/194311000981255Mucopolysaccharidosis VI (MPS VI) is a very rare autosomal recessive disorder caused by mutations in the ARSB gene, which lead to deficient activity of the lysosomal enzyme ASB. This enzyme is important for the breakdown of the glycosaminoglycans (GAGs) dermatan sulfate and chondroitin sulfate, which accumulate in body tissues and organs of MPS VI patients. The storage of GAGs (especially dermatan sulfate) causes bone dysplasia, joint restriction, organomegaly, heart disease, and corneal clouding, among several other problems, and reduced life span. Despite the fact that most cases are severe, there is a spectrum of severity and some cases are so attenuated that diagnosis is made late in life. Although the analysis of urinary GAGs and/or the measurement of enzyme activity in dried blood spots are useful screening methods, the diagnosis is based in the demonstration of the enzyme deficiency in leucocytes or fibroblasts, and/or in the identification of pathogenic mutations in the ARSB gene. Specific treatment with enzyme replacement has been available since 2005. It is safe and effective, bringing measurable benefits and increased survival to patients. As several evidences indicate that early initiation of therapy may lead to a better outcome, newborn screening is being considered for this condition, and it is already in place in selected areas where the incidence of MPS VI is increased. However, as enzyme replacement therapy is not curative, associated therapies should be considered, and research on innovative therapies continues. The management of affected patients by a multidisciplinary team with experience in MPS diseases is highly recommended.application/pdfengThe Application of Clinical Genetics. [Auckland, NZ]. Vol. 8 (2015), p. 245-255Mucopolissacaridose VIDoenças por armazenamento dos lisossomosTerapia de reposição de enzimasN-acetilgalactosamina-4-sulfataseMucopolysaccharidosis VILysosomal storage diseasesEnzyme replacement therapyArylsulfatase bDermatan sulfateMaroteaux lamy syndromeDiagnostic and treatment strategies in mucopolysaccharidosis VIEstrangeiroinfo:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da UFRGSinstname:Universidade Federal do Rio Grande do Sul (UFRGS)instacron:UFRGSTEXT000981255.pdf.txt000981255.pdf.txtExtracted Texttext/plain57036http://www.lume.ufrgs.br/bitstream/10183/194311/2/000981255.pdf.txt54f1da551c18942feefdaf34509b9885MD52ORIGINAL000981255.pdfTexto completo (inglês)application/pdf1512966http://www.lume.ufrgs.br/bitstream/10183/194311/1/000981255.pdfa23db5ff4e5ac8c9abe09242494a47a0MD5110183/1943112019-05-18 02:36:57.701259oai:www.lume.ufrgs.br:10183/194311Repositório de PublicaçõesPUBhttps://lume.ufrgs.br/oai/requestopendoar:2019-05-18T05:36:57Repositório Institucional da UFRGS - Universidade Federal do Rio Grande do Sul (UFRGS)false
dc.title.pt_BR.fl_str_mv Diagnostic and treatment strategies in mucopolysaccharidosis VI
title Diagnostic and treatment strategies in mucopolysaccharidosis VI
spellingShingle Diagnostic and treatment strategies in mucopolysaccharidosis VI
Vairo, Filippo Pinto e
Mucopolissacaridose VI
Doenças por armazenamento dos lisossomos
Terapia de reposição de enzimas
N-acetilgalactosamina-4-sulfatase
Mucopolysaccharidosis VI
Lysosomal storage diseases
Enzyme replacement therapy
Arylsulfatase b
Dermatan sulfate
Maroteaux lamy syndrome
title_short Diagnostic and treatment strategies in mucopolysaccharidosis VI
title_full Diagnostic and treatment strategies in mucopolysaccharidosis VI
title_fullStr Diagnostic and treatment strategies in mucopolysaccharidosis VI
title_full_unstemmed Diagnostic and treatment strategies in mucopolysaccharidosis VI
title_sort Diagnostic and treatment strategies in mucopolysaccharidosis VI
author Vairo, Filippo Pinto e
author_facet Vairo, Filippo Pinto e
Federhen, Andressa
Baldo, Guilherme
Burin, Maira Graeff
Riegel, Mariluce
Leistner-Segal, Sandra
Giugliani, Roberto
author_role author
author2 Federhen, Andressa
Baldo, Guilherme
Burin, Maira Graeff
Riegel, Mariluce
Leistner-Segal, Sandra
Giugliani, Roberto
author2_role author
author
author
author
author
author
dc.contributor.author.fl_str_mv Vairo, Filippo Pinto e
Federhen, Andressa
Baldo, Guilherme
Burin, Maira Graeff
Riegel, Mariluce
Leistner-Segal, Sandra
Giugliani, Roberto
dc.subject.por.fl_str_mv Mucopolissacaridose VI
Doenças por armazenamento dos lisossomos
Terapia de reposição de enzimas
N-acetilgalactosamina-4-sulfatase
topic Mucopolissacaridose VI
Doenças por armazenamento dos lisossomos
Terapia de reposição de enzimas
N-acetilgalactosamina-4-sulfatase
Mucopolysaccharidosis VI
Lysosomal storage diseases
Enzyme replacement therapy
Arylsulfatase b
Dermatan sulfate
Maroteaux lamy syndrome
dc.subject.eng.fl_str_mv Mucopolysaccharidosis VI
Lysosomal storage diseases
Enzyme replacement therapy
Arylsulfatase b
Dermatan sulfate
Maroteaux lamy syndrome
description Mucopolysaccharidosis VI (MPS VI) is a very rare autosomal recessive disorder caused by mutations in the ARSB gene, which lead to deficient activity of the lysosomal enzyme ASB. This enzyme is important for the breakdown of the glycosaminoglycans (GAGs) dermatan sulfate and chondroitin sulfate, which accumulate in body tissues and organs of MPS VI patients. The storage of GAGs (especially dermatan sulfate) causes bone dysplasia, joint restriction, organomegaly, heart disease, and corneal clouding, among several other problems, and reduced life span. Despite the fact that most cases are severe, there is a spectrum of severity and some cases are so attenuated that diagnosis is made late in life. Although the analysis of urinary GAGs and/or the measurement of enzyme activity in dried blood spots are useful screening methods, the diagnosis is based in the demonstration of the enzyme deficiency in leucocytes or fibroblasts, and/or in the identification of pathogenic mutations in the ARSB gene. Specific treatment with enzyme replacement has been available since 2005. It is safe and effective, bringing measurable benefits and increased survival to patients. As several evidences indicate that early initiation of therapy may lead to a better outcome, newborn screening is being considered for this condition, and it is already in place in selected areas where the incidence of MPS VI is increased. However, as enzyme replacement therapy is not curative, associated therapies should be considered, and research on innovative therapies continues. The management of affected patients by a multidisciplinary team with experience in MPS diseases is highly recommended.
publishDate 2015
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dc.relation.ispartof.pt_BR.fl_str_mv The Application of Clinical Genetics. [Auckland, NZ]. Vol. 8 (2015), p. 245-255
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