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

• Autor(a) principal: GIUGLIANI, Roberto
• Data de Publicação: 2010
• Outros Autores: FEDERHEN, Andressa, MUÑOZ ROJAS, Maria Verónica, VIEIRA, Taiane Alves, ARTIGALÁS, Osvaldo Alfonso Pinto, PINTO, Louise Lapagesse de Carmargo, AZEVEDO, Ana Cecília Medeiros Mano, ACOSTA, Angelina Xavier, BONFIM, Carmem Maria Sales, LOURENÇO, Charles Marques, KIM, Chong Ae, HOROVITZ, Denize Bonfim, NORATO, Denise Yvonne Janovitz, MARINHO, Diane Ruschel, PALHARES, Durval Batista, SANTOS, Emerson Santana, RIBEIRO, Erlane Marques, VALADARES, Eugênia Ribeiro, GUARANY, Fábio Coelho, LUCCA, Gisele Rosone de, PIMENTEL, Helena, SOUZA, Isabel Cristina Neves de, CORRÊA NETO, Jordão, FRAGA, José Carlos, 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 Lucia Schmitz Ferreira, MOREIRA, Maria Ângela, KERSTENETZKY, Marcelo Soares, RIBEIRO, Márcia Gonçalves, GUARANY, Nicole Ruas, BARRIOS, Patricia Martins Moura, ARANDA, Paulo Cesar, HONJO, Rachel Sayuri, SILVA, Raquel Tavares Boy da, COSTA, Ronaldo, SOUZA, Carolina Fischinger Moura de, ALCANTARA, Flavio Ferraz de Paes e, AVILLA, Sylvio Gilberto Andrade, FAGONDES, Simone Chaves, MARTINS, Ana Maria
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Repositório Institucional da UFPA
• Texto Completo: http://repositorio.ufpa.br/jspui/handle/2011/5137
• topic: Mucopolissacaridoses; Síndrome de Hurler; Síndrome de Hunter; Síndrome de Maroteaux-Lamy; Terapia de reposição enzimática

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.