Naslov
Enzyme replacement therapy in three patients with MPS II

Autori
Petković, Giorgie ; Barišić, Ingeborg

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

Izvornik
Paediatria Croatica. Supplement 2 / Barišić, Ingeborg - Zagreb, 2009, 48-48

Skup
8th Balkan Meeting on Human Genetics

Mjesto i datum
Cavtat, Hrvatska, 14.05.2009. - 17.05.2009

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
MPS II

Sažetak
Mucopolysaccharidosis type II (MPS II) is a rare lysosomal storage disorder due to the deficiency of the lysosome enzyme iduronate sulfatase (IDS). The enzymatic defect leads to the accumulation of dermatan and heparan sulfate in lysosomes causing progressive dysfunction of many tissues and organs. Enzyme replacement therapy (ERT) is now available with idursulfase. Aim: to present our experience with ERT treatment in three patients with MPS II. Patients/Methods: The diagnosis of MPS II was made based on clinical criteria, abnormal urinary glycosaminoglycan (GAG) excretion, deficient serum and/or fibroblast IDS activity, and molecular testing. Two patients had severe form of disease and one patient was mildly affected. After one year of therapy with idursulfase (ElapraseŸ) in two patients with advanced form of MPS II we found no progression of the disease, with stationary findings in stamina, cardiologic status and liver size. Urinary GAG levels returned to nearly normal levels. One of the two patients, who has epilepsy, showed a marked decrease in the frequency of seizure attacks. The patient with a mild form of MPS II, showed after 6 months of treatment increase in stamina, pulmonary function tests, range of motion, and decrease in liver size. Conclusion: ERT treatment prevented the progression of the disorder in two patients with advanced form of disease and considerably improved the condition of the mildly affected patient. The therapy was well tolerated and without serious side effects.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

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