| Journal: | Genetics and molecular biology |
| Database: | PERIÓDICA |
| System number: | 000371742 |
| ISSN: | 1415-4757 |
| Authors: | Dornelles, Alicia Dorneles1 Pinto, Louise Lapagesse de Camargo2 Paula, Ana Carolina de15 Steiner, Carlos Eduardo4 Lourenco, Charles Marques5 Kim, Chong Ae3 Horovitz, Dafne Dain Gandelman6 Ribeiro, Erlane Marques7 Valadares, Eugenia Ribeiro8 Goulart, Isabela9 Souza, Isabel C. Neves de10 Neri, Joao Ivanildo da Costa11 Santana-da-Silva, Luiz Carlos14 Silva, Luiz Roberto9 Ribeiro, Marcia12 Oliveira-Sobrinho, Ruy Pires de4 Giuglianiani, Roberto13 Schwartz, Ida Vanessa Doederlein13 |
| Institutions: | 1Hospital de Clinicas de Porto Alegre, Medical Genetics Service, Porto Alegre, Rio Grande do Sul. Brasil 2Hospital Infantil Joana de Gusmao, Medical Genetics Service, Florianopolis, Santa Catarina. Brasil 3Universidade de Sao Paulo, Instituto da Crianca, Sao Paulo. Brasil 4Universidade Estadual de Campinas, Department of Medical Genetics, Campinas, Sao Paulo. Brasil 5Universidade de Sao Paulo, Hospital das Clinicas de Ribeirao Preto, Ribeirao Preto, Sao Paulo. Brasil 6Fundacao Oswaldo Cruz, Instituto Nacional de Saude da Mulher, da Crianca e do Adolescente Fernandes Figueira, Rio de Janeiro. Brasil 7Hospital Infantil Albert Sabin, Medical Genetics Service, Fortaleza, Ceara. Brasil 8Hospital das Clinicas, Ambulatorio de Erros Inatos do Metabolismo, Belo Horizonte, Minas Gerais. Brasil 9Universidade Federal de Uberlandia, Hospital de Clinicas, Uberlandia, Minas Gerais. Brasil 10Universidade Federal do Para, Hospital Universitario Bettina Ferro de Souza, Belem, Para. Brasil 11Outpatient Genetics Clinic, Prefeitura de Parnamirim, Parnamirim, Rio Grande do Norte. Brasil 12Universidade Federal do Rio de Janeiro, Instituto de Puericultura e Pediatria Martagao Gesteira, Rio de Janeiro. Brasil 13Universidade Federal do Rio Grande do Sul, Department of Genetics, Porto Alegre, Rio Grande do Sul. Brasil 14Universidade Federal do Para, Laboratório de Erros Inatos do Metabolismo, Belem, Para. Brasil 15Hospital Municipal da Criança e Adolescente, Guarulhos, Sao Paulo. Brasil |
| Year: | 2014 |
| Season: | Mar |
| Volumen: | 37 |
| Number: | 1 |
| Pages: | 23-29 |
| Country: | Brasil |
| Language: | Inglés |
| Document type: | Artículo |
| Approach: | Experimental |
| English abstract | Mucopolysaccharidosis type I (MPS I) is a rare lysosomal disorder caused by deficiency of alpha-L-iduronidase. Few clinical trials have assessed the effect of enzyme replacement therapy (ERT) for this condition. We conducted an exploratory, open-label, non-randomized, multicenter cohort study of patients with MPS I. Data were collected from questionnaires completed by attending physicians at the time of diagnosis (T1; n = 34) and at a median time of 2.5 years later (T2; n = 24/34). The 24 patients for whom data were available at T2 were allocated into groups: A, no ERT (9 patients; median age at T1 = 36 months; 6 with severe phenotype); B, on ERT (15 patients; median age at T1 = 33 months; 4 with severe phenotype). For all variables in which there was no between-group difference at baseline, a delta of 20% was considered clinically relevant. The following clinically relevant differences were identified in group B in T2: lower rates of mortality and reported hospitalization for respiratory infection; lower frequency of hepatosplenomegaly; increased reported rates of obstructive sleep apnea syndrome and hearing loss; and stabilization of gibbus deformity. These changes could be due to the effect of ERT or of other therapies which have also been found more frequently in group B. Our findings suggest MPS I patients on ERT also receive a better overall care. ERT may have a positive effect on respiratory morbidity and overall mortality in patients with MPS I. Additional studies focusing on these outcomes and on other therapies should be performed |
| Disciplines: | Medicina, Química |
| Keyword: | Metabolismo y nutrición, Terapéutica y rehabilitación, Bioquímica, Terapia de reemplazo enzimático, Laronidasa, Mucopolisacaridosis tipo I, Alfa-L-iduronidasa |
| Keyword: | Medicine, Chemistry, Metabolism and nutrition, Therapeutics and rehabilitation, Biochemistry, Enzyme replacement therapy, Laronidase, Mucopolysaccharidosis type I, Alpha-L-iduronidase |
| Full text: | Texto completo (Ver PDF) |
