Mucopolysaccharidosis type I, II and VI and response to enzyme replacement therapy
Carregando...
Data
Data de publicação
Autores IPEN
Orientador
Título da Revista
ISSN da Revista
Título do Volume
É parte de
É parte de
É parte de
Intractable & Rare Diseases Research
Exportar
Resumo
Mucopolysaccharidoses (MPS) types I, II and VI are associated with deficiencies in alpha-
L-iduronidase, iduronate-2-sulfatase and N-acetylgalactosamine-4-sulfatase, respectively,
and generally involve progressive and multi-systemic clinical manifestations. Enzyme
replacement therapy (ERT) appears to be reasonably well tolerated. The aim of this study
was to examine clinical and diagnostic findings of a series of pediatric and adult MPS
patients, and assess the safety and efficacy of ERT in children and adults with MPS type
I, II and VI. Pediatric and adult patients were treated weekly with 1 mg/kg recombinant
human N-acetylgalactosamine-4-sulphatase (rhASB), 0.45 mg/kg alpha-L-iduronidase,
or 0.5 mg/kg iduronate-2-sulfatase. Clinical and biochemical parameters with ERT were
evaluated for a mean duration of 5 years. Mantel-Haenszel risk ratios and associated 95%
confidence intervals (CIs) were calculated for rates of death among different types of enzyme
replacement therapies (ERTs). Twenty-seven patients (mean ages – pediatric: 6.8 years;
adult: 29 years) were included. ERT was found to be consistently well tolerated and effective
in attenuating symptoms, but did not prevent the progression of the disease or reduce
mortality rates. Our findings demonstrated that early diagnosis and initiation of ERT are
critical for improvements in patient-important outcomes and quality of life, although disease
progression and mortality rates remain high.
Como referenciar
FRANCO, JOSE F. da S.; EL DIB, REGINA; AGARWAL, ARNAV; SOARES, DIOGO; MILHAN, NOALA V.M.; ALBANO, LILIAN M.J.; KIM, CHONG A. Mucopolysaccharidosis type I, II and VI and response to enzyme replacement therapy: results from a single-center case series study. Intractable & Rare Diseases Research, v. 6, n. 3, p. 183-190, 2017. DOI: 10.5582/irdr.2017.01036. Disponível em: http://repositorio.ipen.br/handle/123456789/28443. Acesso em: 30 Dec 2025.
Esta referência é gerada automaticamente de acordo com as normas do estilo IPEN/SP (ABNT NBR 6023) e recomenda-se uma verificação final e ajustes caso necessário.