|
|
| Giugliani,Roberto; Villarreal,Martha Luz Solano; Valdez,C. Araceli Arellano; Hawilou,Antonieta Mahfoud; Guelbert,Norberto; Garzón,Luz Norela Correa; Martins,Ana Maria; Acosta,Angelina; Cabello,Juan Francisco; Lemes,Aída; Santos,Mara Lucia Schmitz Ferreira; Amartino,Hernán. |
| This review aims to provide clinicians in Latin America with the most current information on the clinical aspects, diagnosis, and management of Hunter syndrome, a serious and progressive disease for which specific treatment is available. Hunter syndrome is a genetic disorder where iduronate-2-sulfatase (I2S), an enzyme that degrades glycosaminoglycans, is absent or deficient. Clinical manifestations vary widely in severity and involve multiple organs and tissues. An attenuated and a severe phenotype are recognized depending on the degree of cognitive impairment. Early diagnosis is vital for disease management. Clinical signs common to children with Hunter syndrome include inguinal hernia, frequent ear and respiratory infections, facial dysmorphisms,... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Hunter syndrome; Lysosomal disease; Iduronate-2-sulfatase; Enzyme replacement therapy; Treatment guidelines. |
| Ano: 2014 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572014000300003 |
| |
