Campo DC | Valor | Idioma |
dc.contributor.author | Horovitz, Dafne Dain Gandelman | - |
dc.contributor.author | Magalhães, Tatiana S. P. C. | - |
dc.contributor.author | Acosta, Angelina Xavier | - |
dc.contributor.author | Ribeiro, Erlane Marques | - |
dc.contributor.author | Giuliani, Liane de Rosso | - |
dc.contributor.author | Palhares, Durval Batista | - |
dc.contributor.author | Kim, Chong Ae | - |
dc.contributor.author | Paula, Ana Carolina de | - |
dc.contributor.author | Kerstenestzy, Marcelo | - |
dc.contributor.author | Pianovski, Mara Albonei Dudeque | - |
dc.contributor.author | Costa, Maria Ione Ferreira | - |
dc.contributor.author | Santos, Francisca C. | - |
dc.contributor.author | Martins, Ana Maria | - |
dc.contributor.author | Aranda, Carolina Sanchez | - |
dc.contributor.author | Correa Neto, Jordão | - |
dc.contributor.author | Holanda, Gervina Brady Moreira | - |
dc.contributor.author | Cardoso Junior, Laércio | - |
dc.contributor.author | Silva, Carlos A. B. da | - |
dc.contributor.author | Bonatti, Renata Cristina Franzon | - |
dc.contributor.author | Ribeiro, Bethânia de Freitas Rodrigues | - |
dc.contributor.author | Rodrigues, Maria do Carmo S. | - |
dc.contributor.author | Llerena Junior, Juan Clinton | - |
dc.creator | Horovitz, Dafne Dain Gandelman | - |
dc.creator | Magalhães, Tatiana S. P. C. | - |
dc.creator | Acosta, Angelina Xavier | - |
dc.creator | Ribeiro, Erlane Marques | - |
dc.creator | Giuliani, Liane de Rosso | - |
dc.creator | Palhares, Durval Batista | - |
dc.creator | Kim, Chong Ae | - |
dc.creator | Paula, Ana Carolina de | - |
dc.creator | Kerstenestzy, Marcelo | - |
dc.creator | Pianovski, Mara Albonei Dudeque | - |
dc.creator | Costa, Maria Ione Ferreira | - |
dc.creator | Santos, Francisca C. | - |
dc.creator | Martins, Ana Maria | - |
dc.creator | Aranda, Carolina Sanchez | - |
dc.creator | Correa Neto, Jordão | - |
dc.creator | Holanda, Gervina Brady Moreira | - |
dc.creator | Cardoso Junior, Laércio | - |
dc.creator | Silva, Carlos A. B. da | - |
dc.creator | Bonatti, Renata Cristina Franzon | - |
dc.creator | Ribeiro, Bethânia de Freitas Rodrigues | - |
dc.creator | Rodrigues, Maria do Carmo S. | - |
dc.creator | Llerena Junior, Juan Clinton | - |
dc.date.accessioned | 2013-10-31T18:11:52Z | - |
dc.date.issued | 2013 | - |
dc.identifier.issn | 1096-7192 | - |
dc.identifier.uri | http://repositorio.ufba.br/ri/handle/ri/13434 | - |
dc.description | Texto completo. Acesso restrito. p. 62-69 | pt_BR |
dc.description.abstract | Background
Mucopolysaccharidosis type VI (MPS VI) is a progressive, chronic and multisystem lysosomal storage disease with a wide disease spectrum. Clinical and biochemical improvements have been reported for MPS VI patients on enzyme replacement therapy (ERT) with rhASB (recombinant human arylsulfatase B; galsulfase, Naglazyme®, BioMarin Pharmaceutical Inc.), making early diagnosis and intervention imperative for optimal patient outcomes. Few studies have included children younger than five years of age. This report describes 34 MPS VI patients that started treatment with galsulfase before five years of age.
Methods
Data from patients who initiated treatment at < 5 years of age were collected from patients' medical records. Baseline and follow-up assessments of common symptoms that led to diagnosis and that were used to evaluate disease progression and treatment efficacy were evaluated.
Results
A significant negative correlation was seen with treatment with ERT and urinary GAG levels. Of those with baseline and follow-up growth data, 47% remained on their pre-treatment growth curve or moved to a higher percentile after treatment. Of the 9 patients with baseline and follow-up sleep studies, 5 remained unaffected and 1 patient initially with mild sleep apnea showed improvement. Data regarding cardiac, ophthalmic, central nervous system, hearing, surgical interventions and development are also reported. No patient discontinued treatment due to an adverse event and all that were treatment-emergent resolved.
Conclusions
The prescribed dosage of 1 mg/kg IV weekly with galsulfase ERT is shown to be safe and effective in slowing and/or improving certain aspects of the disease, although patients should be closely monitored for complications associated with the natural history of the disease, especially cardiac valve involvement and spinal cord compression. A long-term follow-up investigation of this group of children will provide further information on the benefits of early treatment as well as disease progression and treatment efficacy and safety in this young patient population. | pt_BR |
dc.language.iso | en | pt_BR |
dc.publisher | Molecular Genetics and Metabolism | pt_BR |
dc.rights | Acesso Aberto | pt_BR |
dc.source | http://dx.doi.org/10.1016/j.ymgme.2013.02.014 | pt_BR |
dc.subject | Mucopolysaccharidosis VI | pt_BR |
dc.subject | MPS VI | pt_BR |
dc.subject | Lysosomal storage disorder | pt_BR |
dc.subject | Galsulfase | pt_BR |
dc.subject | Enzyme replacement therapy | pt_BR |
dc.subject | Pediatric | pt_BR |
dc.title | Enzyme replacement therapy with galsulfase in 34 children younger than five years of age with MPS VI | pt_BR |
dc.title.alternative | Molecular Genetics and Metabolism | pt_BR |
dc.type | Artigo de Periódico | pt_BR |
dc.description.localpub | Salvador | pt_BR |
dc.identifier.number | v. 109, n. 1 | pt_BR |
dc.embargo.liftdate | 10000-01-01 | - |
Aparece nas coleções: | Artigo Publicado em Periódico (Faculdade de Medicina)
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