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Artículo en Inglés | WPRIM | ID: wpr-180434

RESUMEN

Hunter syndrome (or mucopolysaccharidosis type II [MPS II]) arises because of a deficiency in the lysosomal enzyme iduronate-2-sulfatase. Short stature is a prominent and consistent feature in MPS II. Enzyme replacement therapy (ERT) with idursulfase (Elaprase(R)) or idursulfase beta (Hunterase(R)) have been developed for these patients. The effect of ERT on the growth of Korean patients with Hunter syndrome was evaluated at a single center. This study comprised 32 patients, who had received ERT for at least 2 yr; they were divided into three groups according to their ages at the start of ERT: group 1 (<6 yr, n=14), group 2 (6-10 yr, n=11), and group 3 (10-20 yr, n=7). The patients showed marked growth retardation as they got older. ERT may have less effect on the growth of patients with the severe form of Hunter syndrome. The height z-scores in groups 2 and 3 revealed a significant change (the estimated slopes before and after the treatment were -0.047 and -0.007, respectively: difference in the slope, 0.04; P<0.001). Growth in response to ERT could be an important treatment outcome or an endpoint for future studies.


Asunto(s)
Adolescente , Niño , Preescolar , Humanos , Lactante , Masculino , Adulto Joven , Estatura , Demografía , Terapia de Reemplazo Enzimático , Iduronato Sulfatasa/uso terapéutico , Disfunción Cognitiva/etiología , Mucopolisacaridosis II/complicaciones , Mutación , Fenotipo , Isoformas de Proteínas/uso terapéutico , República de Corea
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