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 UFRGS |
Texto Completo: | http://hdl.handle.net/10183/207140 |
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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Giugliani, RobertoSolano Villareal, Martha LuzArellano Valdez, Carmen AraceliMahfoud Hawilou, AntonietaGuelbert, NorbertoCorrea Garzón, Luz NorelaMartins, Ana Maria (Medicina)Acosta, Angelina XavierCabello, Juan FranciscoLemes, AídaSantos, Mara Lúcia Schmitz FerreiraAmartino, Hernan2020-05-01T04:08:56Z20141415-4757http://hdl.handle.net/10183/207140001103570This 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.application/pdfengGenetics and molecular biology. Ribeirão Preto. Vol. 37 n. 2 (June 2014), p. 315-329Mucopolissacaridose IITerapia de reposição de enzimasIduronato sulfaseHunter syndromeLysosomal diseaseiduronate-2-sulfataseEnzyme replacement therapyTreatment guidelinesGuidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin Americainfo:eu-repo/semantics/articleinfo:eu-repo/semantics/otherinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da UFRGSinstname:Universidade Federal do Rio Grande do Sul (UFRGS)instacron:UFRGSTEXT001103570.pdf.txt001103570.pdf.txtExtracted Texttext/plain67106http://www.lume.ufrgs.br/bitstream/10183/207140/2/001103570.pdf.txtf306b4966fe8aa42a60af2fa25af4388MD52ORIGINAL001103570.pdfTexto completo (inglês)application/pdf824491http://www.lume.ufrgs.br/bitstream/10183/207140/1/001103570.pdf45dcb6d4216ac392015c77395248a401MD5110183/2071402024-05-23 06:42:34.164536oai:www.lume.ufrgs.br:10183/207140Repositório de PublicaçõesPUBhttps://lume.ufrgs.br/oai/requestopendoar:2024-05-23T09:42:34Repositório Institucional da UFRGS - Universidade Federal do Rio Grande do Sul (UFRGS)false |
dc.title.pt_BR.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 Mucopolissacaridose II Terapia de reposição de enzimas Iduronato sulfase 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 Solano Villareal, Martha Luz Arellano Valdez, Carmen Araceli Mahfoud Hawilou, Antonieta Guelbert, Norberto Correa Garzón, Luz Norela Martins, Ana Maria (Medicina) Acosta, Angelina Xavier Cabello, Juan Francisco Lemes, Aída Santos, Mara Lúcia Schmitz Ferreira Amartino, Hernan |
author_role |
author |
author2 |
Solano Villareal, Martha Luz Arellano Valdez, Carmen Araceli Mahfoud Hawilou, Antonieta Guelbert, Norberto Correa Garzón, Luz Norela Martins, Ana Maria (Medicina) Acosta, Angelina Xavier Cabello, Juan Francisco Lemes, Aída Santos, Mara Lúcia Schmitz Ferreira Amartino, Hernan |
author2_role |
author author author author author author author author author author author |
dc.contributor.author.fl_str_mv |
Giugliani, Roberto Solano Villareal, Martha Luz Arellano Valdez, Carmen Araceli Mahfoud Hawilou, Antonieta Guelbert, Norberto Correa Garzón, Luz Norela Martins, Ana Maria (Medicina) Acosta, Angelina Xavier Cabello, Juan Francisco Lemes, Aída Santos, Mara Lúcia Schmitz Ferreira Amartino, Hernan |
dc.subject.por.fl_str_mv |
Mucopolissacaridose II Terapia de reposição de enzimas Iduronato sulfase |
topic |
Mucopolissacaridose II Terapia de reposição de enzimas Iduronato sulfase Hunter syndrome Lysosomal disease iduronate-2-sulfatase Enzyme replacement therapy Treatment guidelines |
dc.subject.eng.fl_str_mv |
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.issued.fl_str_mv |
2014 |
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2020-05-01T04:08:56Z |
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dc.relation.ispartof.pt_BR.fl_str_mv |
Genetics and molecular biology. Ribeirão Preto. Vol. 37 n. 2 (June 2014), p. 315-329 |
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