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Mucopolysaccharidosis I, II, and VI : brief review and guidelines for treatment

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Mucopolysaccharidosis I, II, and VI : brief review and guidelines for treatment

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Título Mucopolysaccharidosis I, II, and VI : brief review and guidelines for treatment
Autor Giugliani, Roberto
Federhen, Andressa
Munõz Rojas, Maria Verônica
Vieira, Taiane Alves
Artigalas, Osvaldo Alfonso Pinto
Pinto, Louise Lapagesse de Camargo
Azevedo, Ana Cecília Medeiros Mano
Acosta, Angelina Xavier
Bonfim, Carmem Maria Sales
Lourenço, Charles Marques
Kim, Chong Ae
Horovitz, Dafne Dain Gandelman
Bonfim, Denize
Norato, Denise Y.J.
Marinho, Diane Ruschel
Palhares, Durval
Santos, Emerson Santana
Ribeiro, Erlane Marques
Valadares, Eugênia Ribeiro
Guarany, Fábio Coelho
Lucca, Gisele Rosone de
Pimentel, Helena
Souza, Isabel Neves de
Corrêa Neto, Jordão
Fraga, José Carlos Soares de
Góes, José Eduardo Coutinho
Cabral, José Maria
Simionato, José
Llerena Junior, Juan Clinton
Jardim, Laura Bannach
Giuliani, Liane de Rosso
Silva, Luiz Carlos Santana da
Santos, Mara Lúcia Ferreira
Moreira, Maria Ângela Fontoura
Kerstenetzky, Marcelo
Ribeiro, Márcia Gonçalves
Ruas, Nicole
Barrios, Patricia Martins Moura
Aranda, Paulo Cesar
Honjo, Raquel S.
Boy, Raquel
Costa, Ronaldo David da
Souza, Carolina Fischinger Moura de
Alcântara, Flavio F.
Avilla, Sylvio Gilberto A.
Fagondes, Simone Chaves
Martins, Ana Maria (Medicina)
Abstract Mucopolysaccharidoses (MPS) are rare genetic diseases caused by the deficiency of one of the lysosomal enzymes involved in the glycosaminoglycan (GAG) breakdown pathway. This metabolic block leads to the accumulation of GAG in various organs and tissues of the affected patients, resulting in a multisystemic clinical picture, sometimes including cognitive impairment. Until the beginning of the XXI century, treatment was mainly supportive. Bone marrow transplantation improved the natural course of the disease in some types of MPS, but the morbidity and mortality restricted its use to selected cases. The identification of the genes involved, the new molecular biology tools and the availability of animal models made it possible to develop specific enzyme replacement therapies (ERT) for these diseases. At present, a great number of Brazilian medical centers from all regions of the country have experience with ERT for MPS I, II, and VI, acquired not only through patient treatment but also in clinical trials. Taking the three types of MPS together, over 200 patients have been treated with ERT in our country. This document summarizes the experience of the professionals involved, along with the data available in the international literature, bringing together and harmonizing the information available on the management of these severe and progressive diseases, thus disclosing new prospects for Brazilian patients affected by these conditions.
Contido em Genetics and molecular biology. Ribeirao Preto. Vol. 33, no. 4 (2010), p. 589-604
Assunto Mucopolissacaridose I
Mucopolissacaridose II
Mucopolissacaridose VI
[en] Enzyme replacement therapy
[en] Hunter syndrome
[en] Hurler syndrome
[en] Maroteaux-lamy syndrome
[en] Mucopolisaccharidoses
[en] Treatment guidelines
Origem Nacional
Tipo Artigo de periódico
URI http://hdl.handle.net/10183/34295
Arquivos Descrição Formato
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