Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America
Autor(a) principal: | |
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Data de Publicação: | 2014 |
Outros Autores: | , , , , , , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Institucional da UNIFESP |
Texto Completo: | http://dx.doi.org/10.1590/S1415-47572014000300003 http://repositorio.unifesp.br/handle/11600/8408 |
Resumo: | This review aims to provide clinicians in Latin America with the most current information on the clinical aspects, diagnosis, and management of Hunter syndrome, a serious and progressive disease for which specific treatment is available. Hunter syndrome is a genetic disorder where iduronate-2-sulfatase (I2S), an enzyme that degrades glycosaminoglycans, is absent or deficient. Clinical manifestations vary widely in severity and involve multiple organs and tissues. An attenuated and a severe phenotype are recognized depending on the degree of cognitive impairment. Early diagnosis is vital for disease management. Clinical signs common to children with Hunter syndrome include inguinal hernia, frequent ear and respiratory infections, facial dysmorphisms, macrocephaly, bone dysplasia, short stature, sleep apnea, and behavior problems. Diagnosis is based on screening urinary glycosaminoglycans and confirmation by measuring I2S activity and analyzing I2S gene mutations. Idursulfase (recombinant I2S) (Elaprase®, Shire) enzyme replacement therapy (ERT), designed to address the underlying enzyme deficiency, is approved treatment and improves walking capacity and respiratory function, and reduces spleen and liver size and urinary glycosaminoglycan levels. Additional measures, responding to the multi-organ manifestations, such as abdominal/inguinal hernia repair, carpal tunnel surgery, and cardiac valve replacement, should also be considered. Investigational treatment options such as intrathecal ERT are active areas of research, and bone marrow transplantation is in clinical practice. Communication among care providers, social workers, patients and families is essential to inform and guide their decisions, establish realistic expectations, and assess patients' responses. |
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Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin AmericaHunter syndromelysosomal diseaseiduronate-2-sulfataseenzyme replacement therapytreatment guidelinesThis review aims to provide clinicians in Latin America with the most current information on the clinical aspects, diagnosis, and management of Hunter syndrome, a serious and progressive disease for which specific treatment is available. Hunter syndrome is a genetic disorder where iduronate-2-sulfatase (I2S), an enzyme that degrades glycosaminoglycans, is absent or deficient. Clinical manifestations vary widely in severity and involve multiple organs and tissues. An attenuated and a severe phenotype are recognized depending on the degree of cognitive impairment. Early diagnosis is vital for disease management. Clinical signs common to children with Hunter syndrome include inguinal hernia, frequent ear and respiratory infections, facial dysmorphisms, macrocephaly, bone dysplasia, short stature, sleep apnea, and behavior problems. Diagnosis is based on screening urinary glycosaminoglycans and confirmation by measuring I2S activity and analyzing I2S gene mutations. Idursulfase (recombinant I2S) (Elaprase®, Shire) enzyme replacement therapy (ERT), designed to address the underlying enzyme deficiency, is approved treatment and improves walking capacity and respiratory function, and reduces spleen and liver size and urinary glycosaminoglycan levels. Additional measures, responding to the multi-organ manifestations, such as abdominal/inguinal hernia repair, carpal tunnel surgery, and cardiac valve replacement, should also be considered. Investigational treatment options such as intrathecal ERT are active areas of research, and bone marrow transplantation is in clinical practice. Communication among care providers, social workers, patients and families is essential to inform and guide their decisions, establish realistic expectations, and assess patients' responses.Hospital de Clinicas de Porto Alegre Serviço de Génetica MédicaUniversidade Federal do Rio Grande do Sul Departamento de GéneticaInstituto Nacional de Genética Médica PopulacionalAsociación Colombiana de Neurología InfantilInstituto Mexicano del Seguro SocialInstituto de Estudios AvanzadosHospital de NiñosLa Misericordia University HospitalUniversidade Federal de São Paulo (UNIFESP) Centro de Referência em Erros Inatos do MetabolismoUniversidade Federal de BahiaUniversidad de Chile Instituto de Nutrición y Tecnología de los AlimentosHospital Italiano Instituto de Genética MédicaHospital Pequeno Príncipe Departamento de NeuropediatraHospital Universitario AustralUNIFESP, Centro de Referência em Erros Inatos do MetabolismoSciELOSociedade Brasileira de GenéticaHospital de Clinicas de Porto Alegre Serviço de Génetica MédicaUniversidade Federal do Rio Grande do Sul Departamento de GéneticaInstituto Nacional de Genética Médica PopulacionalAsociación Colombiana de Neurología InfantilInstituto Mexicano del Seguro SocialInstituto de Estudios AvanzadosHospital de NiñosLa Misericordia University HospitalUniversidade Federal de São Paulo (UNIFESP)Universidade Federal de BahiaUniversidad de Chile Instituto de Nutrición y Tecnología de los AlimentosHospital Italiano Instituto de Genética MédicaHospital Pequeno Príncipe Departamento de NeuropediatraHospital Universitario AustralGiugliani, RobertoVillarreal, Martha Luz SolanoValdez, C. Araceli ArellanoHawilou, Antonieta MahfoudGuelbert, NorbertoGarzón, Luz Norela CorreaMartins, Ana Maria [UNIFESP]Acosta, AngelinaCabello, Juan FranciscoLemes, AídaSantos, Mara Lucia Schmitz FerreiraAmartino, Hernán2015-06-14T13:47:07Z2015-06-14T13:47:07Z2014-06-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersion315-329application/pdfhttp://dx.doi.org/10.1590/S1415-47572014000300003Genetics and Molecular Biology. Sociedade Brasileira de Genética, v. 37, n. 2, p. 315-329, 2014.10.1590/S1415-47572014000300003S1415-47572014000300003.pdf1415-4757S1415-47572014000300003http://repositorio.unifesp.br/handle/11600/8408WOS:000342562000003engGenetics and Molecular Biologyinfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da UNIFESPinstname:Universidade Federal de São Paulo (UNIFESP)instacron:UNIFESP2024-08-05T08:13:14Zoai:repositorio.unifesp.br/:11600/8408Repositório InstitucionalPUBhttp://www.repositorio.unifesp.br/oai/requestbiblioteca.csp@unifesp.bropendoar:34652024-08-05T08:13:14Repositório Institucional da UNIFESP - Universidade Federal de São Paulo (UNIFESP)false |
dc.title.none.fl_str_mv |
Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America |
title |
Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America |
spellingShingle |
Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America Giugliani, Roberto Hunter syndrome lysosomal disease iduronate-2-sulfatase enzyme replacement therapy treatment guidelines |
title_short |
Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America |
title_full |
Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America |
title_fullStr |
Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America |
title_full_unstemmed |
Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America |
title_sort |
Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America |
author |
Giugliani, Roberto |
author_facet |
Giugliani, Roberto Villarreal, Martha Luz Solano Valdez, C. Araceli Arellano Hawilou, Antonieta Mahfoud Guelbert, Norberto Garzón, Luz Norela Correa Martins, Ana Maria [UNIFESP] Acosta, Angelina Cabello, Juan Francisco Lemes, Aída Santos, Mara Lucia Schmitz Ferreira Amartino, Hernán |
author_role |
author |
author2 |
Villarreal, Martha Luz Solano Valdez, C. Araceli Arellano Hawilou, Antonieta Mahfoud Guelbert, Norberto Garzón, Luz Norela Correa Martins, Ana Maria [UNIFESP] Acosta, Angelina Cabello, Juan Francisco Lemes, Aída Santos, Mara Lucia Schmitz Ferreira Amartino, Hernán |
author2_role |
author author author author author author author author author author author |
dc.contributor.none.fl_str_mv |
Hospital de Clinicas de Porto Alegre Serviço de Génetica Médica Universidade Federal do Rio Grande do Sul Departamento de Génetica Instituto Nacional de Genética Médica Populacional Asociación Colombiana de Neurología Infantil Instituto Mexicano del Seguro Social Instituto de Estudios Avanzados Hospital de Niños La Misericordia University Hospital Universidade Federal de São Paulo (UNIFESP) Universidade Federal de Bahia Universidad de Chile Instituto de Nutrición y Tecnología de los Alimentos Hospital Italiano Instituto de Genética Médica Hospital Pequeno Príncipe Departamento de Neuropediatra Hospital Universitario Austral |
dc.contributor.author.fl_str_mv |
Giugliani, Roberto Villarreal, Martha Luz Solano Valdez, C. Araceli Arellano Hawilou, Antonieta Mahfoud Guelbert, Norberto Garzón, Luz Norela Correa Martins, Ana Maria [UNIFESP] Acosta, Angelina Cabello, Juan Francisco Lemes, Aída Santos, Mara Lucia Schmitz Ferreira Amartino, Hernán |
dc.subject.por.fl_str_mv |
Hunter syndrome lysosomal disease iduronate-2-sulfatase enzyme replacement therapy treatment guidelines |
topic |
Hunter syndrome lysosomal disease iduronate-2-sulfatase enzyme replacement therapy treatment guidelines |
description |
This review aims to provide clinicians in Latin America with the most current information on the clinical aspects, diagnosis, and management of Hunter syndrome, a serious and progressive disease for which specific treatment is available. Hunter syndrome is a genetic disorder where iduronate-2-sulfatase (I2S), an enzyme that degrades glycosaminoglycans, is absent or deficient. Clinical manifestations vary widely in severity and involve multiple organs and tissues. An attenuated and a severe phenotype are recognized depending on the degree of cognitive impairment. Early diagnosis is vital for disease management. Clinical signs common to children with Hunter syndrome include inguinal hernia, frequent ear and respiratory infections, facial dysmorphisms, macrocephaly, bone dysplasia, short stature, sleep apnea, and behavior problems. Diagnosis is based on screening urinary glycosaminoglycans and confirmation by measuring I2S activity and analyzing I2S gene mutations. Idursulfase (recombinant I2S) (Elaprase®, Shire) enzyme replacement therapy (ERT), designed to address the underlying enzyme deficiency, is approved treatment and improves walking capacity and respiratory function, and reduces spleen and liver size and urinary glycosaminoglycan levels. Additional measures, responding to the multi-organ manifestations, such as abdominal/inguinal hernia repair, carpal tunnel surgery, and cardiac valve replacement, should also be considered. Investigational treatment options such as intrathecal ERT are active areas of research, and bone marrow transplantation is in clinical practice. Communication among care providers, social workers, patients and families is essential to inform and guide their decisions, establish realistic expectations, and assess patients' responses. |
publishDate |
2014 |
dc.date.none.fl_str_mv |
2014-06-01 2015-06-14T13:47:07Z 2015-06-14T13:47:07Z |
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://dx.doi.org/10.1590/S1415-47572014000300003 Genetics and Molecular Biology. Sociedade Brasileira de Genética, v. 37, n. 2, p. 315-329, 2014. 10.1590/S1415-47572014000300003 S1415-47572014000300003.pdf 1415-4757 S1415-47572014000300003 http://repositorio.unifesp.br/handle/11600/8408 WOS:000342562000003 |
url |
http://dx.doi.org/10.1590/S1415-47572014000300003 http://repositorio.unifesp.br/handle/11600/8408 |
identifier_str_mv |
Genetics and Molecular Biology. Sociedade Brasileira de Genética, v. 37, n. 2, p. 315-329, 2014. 10.1590/S1415-47572014000300003 S1415-47572014000300003.pdf 1415-4757 S1415-47572014000300003 WOS:000342562000003 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
Genetics and Molecular Biology |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
315-329 application/pdf |
dc.publisher.none.fl_str_mv |
Sociedade Brasileira de Genética |
publisher.none.fl_str_mv |
Sociedade Brasileira de Genética |
dc.source.none.fl_str_mv |
reponame:Repositório Institucional da UNIFESP instname:Universidade Federal de São Paulo (UNIFESP) instacron:UNIFESP |
instname_str |
Universidade Federal de São Paulo (UNIFESP) |
instacron_str |
UNIFESP |
institution |
UNIFESP |
reponame_str |
Repositório Institucional da UNIFESP |
collection |
Repositório Institucional da UNIFESP |
repository.name.fl_str_mv |
Repositório Institucional da UNIFESP - Universidade Federal de São Paulo (UNIFESP) |
repository.mail.fl_str_mv |
biblioteca.csp@unifesp.br |
_version_ |
1814268362592616448 |