Naslov
Enzyme replacement therapy for MPS I - follow up of two patients

Autori
Barišić, Ingeborg ; Huzjak, Nevenka ; Tokić, Višnja ; Fumić, Ksenija ; Antičević, Darko ; Mrsić, Mirando

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni

Izvornik
Book of Abstracts of the European Human Genetics Conference ; u: European Journal of Human Genetics. Supplement 12 (2004) (S1) / - , 2004, 349-349

Skup
European Human Genetics Conference

Mjesto i datum
München, Njemačka, 12.06.2004. - 15.06.2004

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
enzyme replacement therapy; MPS I; Morbus Hurler

Sažetak
We present the one-year follow up results of two MPS I patients on enzyme replacement therapy with rh alpha-L-iduronidase (Aldurazyme). In the first patient, a 9 year old boy, we observed significant progress in mobility and general physical condition. We also noticed improvement of hearing and visual acuity, and reduction in spleen and liver size. The symptoms and signs of sleep-apnea syndrome disappeared. Cardiac function (NYHA II) remained stable. The leukocyte alpha-L-iduronidase activity reached therapeutic values. The second patient, an 8 year old girl, demonstrated similar improvements in the first six months of therapy: the amelioration of the respiratory function, hearing, and visual acuity, and a reduction in spleen and liver size. The sleep-apnea episodes disappeared. However, in the last six months we have not registered further improvements, and the clinical parameters remained stationary. We conclude that long term clinical and biochemical follow up is necessary to evaluate the individual response to the enzyme replacement therapy of MPS I patients.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

POVEZANOST RADA