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

• Autor(a) principal: Giugliani, Roberto
• Data de Publicação: 2010
• Outros Autores: Federhen, Andressa, Munoz Rojas, Maria Verônica, Vieira, Taiane, Artigalás, Osvaldo, Lapagesse Pinto, Louise, Azevedo, Ana Cecília, Acosta, Angelina, Bonfim, Carmen, Lourenço, Charles Marques, Chong Ae, Kim, Horovitz, Dafne, Bonfim, Denize, Norato, Denise, Marinho, Diane, Palhares, Durval, Santos, Emerson Santana, Ribeiro, Erlane, Valadares, Eugênia, Guarany, Fábio, Lucca, Gisele Rosone De, Pimentel, Helena, Souza, Isabel Neves de, Corrêa Neto, Jordão [UNIFESP], Fraga, José Carlos, Goes, José Eduardo, Cabral, José Maria, Simionato, José, Llerena Junior, Juan, Jardim, Laura, Giuliani, Liane, Silva, Luiz Carlos Santana da, Santos, Mara L., Moreira, Maria Angela, Kerstenetzky, Marcelo, Ribeiro, Márcia, Ruas, Nicole, Barrios, Patricia, Aranda, Paulo, Honjo, Rachel, Boy, Raquel, Costa, Ronaldo, Souza, Carolina, Alcantara, Flavio F., Avilla, Silvio Gilberto A., Fagondes, Simone, Martins, Ana Maria [UNIFESP]
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Repositório Institucional da UNIFESP
• Texto Completo: http://dx.doi.org/10.1590/S1415-47572010005000093; http://repositorio.unifesp.br/handle/11600/5500
• topic: mucopolisaccharidoses; Hurler syndrome; Hunter syndrome; Maroteaux-Lamy syndrome; enzyme replacement therapy; treatment guidelines

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.