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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 |
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000786718.pdf (140.0Kb) | Texto completo | Adobe PDF | Visualizar/abrir |
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