engleski

Enzyme replacement therapy in two patients with mucopolysaccharidosis type I.

To determine the efficacy of the enzyme replacement therapy with rh-alpha-L-iduronidase (Aldurazyme) in two patients with Mb. Hurler, the most severe form in the clinical spectrum of Mucopolysaccharidosis type I. Rh alpha-L-iduronidase has been administrated weekly, 100 IU/kg. At the beginning of the treatment, both patients, a nine-year-old boy and an eight-year-old girl, were at the advanced stage of the disease. After 13 months of the therapy, the boy showed an improvement in general physical condition, respiratory function and mobility, as well as the reduced hearing impairment. The sleep-apnea syndrome disappeared, together with all other sleeping disorders. The results of the urinary GAGs became normal and the leukocyte alpha-L-iduronidase reached the therapeutic level. The girl showed a similar improvement in the first six months of the treatment, but a relative stagnation in her clinical condition followed. A gradual decrease of leukocyte alpha-L-iduronidase concentration was also noted. The enzyme replacement therapy has demonstrated positive clinical results in our patients, but a constant monitoring of the clinical and biochemical parameters is necessary for a proper evaluation of the treatment efficacy.

MPS IH; enzyme replacement therapy; advanced disease

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