Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America

Detalhes bibliográficos
Autor(a) principal: Giugliani, Roberto
Data de Publicação: 2014
Outros Autores: 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
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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spelling 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
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