Naslov
MPS VI enzyme replacement therapy in two Croatian patients

Autori
Petković, Giorgie ; Barišić, Ingeborg

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

Izvornik
Abstracts of the 3rd Eastern European Conference on Rare Diseases and Orphan Drugs "Rare Diseases : prevention, diganosis, tretment" / - , 2008, 23-23

Skup
Eastern European Conference on Rare Diseases and Orphan Drugs "Rare Diseases : prevention, diganosis, tretment" (3 ; 2008)

Mjesto i datum
Plovdiv, Bugarska, 01.03.2008. - 02.03.2008

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
MPS VI treatement

Sažetak
At Children’s University Hospital Zagreb we provide enzyme replacement therapy (ERT) for patients with mucopolysaccharidosis (MPS) type I, II and VI. We report on two patients, a brother M.C. age 16 and sister V.C. age 15, with MPS VI who are undergoing treatment for 7 months ERT with arylsulfatase B (Naglazyme). Before the beginning of treatment the boy had cardiomyopathy, mitral/tricuspidal regurgitation and asthma with low baseline saturation levels. His 6-minute walk test was 126 meters and he was unable to complete the 12-minute walk test (6/12MWT). In 3-minute stair climb (3MSC) test he was able to climb 31 stairs. The girl had no clinical signs of pulmonary/heart disease, 6/12MWT was 357/735 meters, while 3MSC was 117 stairs. Both had evidence of enlarged liver/spleen with enlarged abdominal diameter. Urinary GAG levels were 4 times above normal range. Naglazyme was administered once a week in a dose of 1mL/kg in 250mL saline for 4.5 hours. After six months of treatment both had evidence of greater stamina, increased saturation levels, while 6/12MWT increased to 140/227 meters in the boy and 409.5/836.4 meters in the girl. The 3MSC increased to 60 stairs for the boy and 131 stairs (maximum available) in 2 minutes and 10 seconds for the girl. Liver/spleen size was reduced and shoulder joint mobility increased in both patients. Urine GAG levels returned to normal values. The 6-months follow up of our patients showed that ERT for MPS VI improved endurance, significantly reduced urinary GAG levels and was in general well tolerated.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

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