| Autor: |
But WM; Department of Paediatrics, Queen Elizabeth Hospital, 30 Gascoigne Road, Hong Kong. butwm@ha.org.hk, Wong MY, Chow JC, Chan WK, Ko WT, Wu SP, Wong ML, Miu TY, Tse WY, Hung WW, Fan TW, Shek CC |
| Jazyk: |
angličtina |
| Zdroj: |
Hong Kong medical journal = Xianggang yi xue za zhi [Hong Kong Med J] 2011 Aug; Vol. 17 (4), pp. 317-24. |
| Abstrakt: |
Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) is a very rare inherited lysosomal storage disease. We evaluated the efficacy and safety of weekly infusions of recombinant human arylsulfatase B as enzyme replacement therapy for two patients in whom this condition was advanced. The primary outcome variables were the distance walked in a 6-minute walk test, forced vital capacity, and ejection fraction. The secondary outcome variables were the number of stairs climbed in a 3-minute stair climbing test, joint mobility, urinary glycosaminoglycan excretion, auto-continuous positive airway pressure study and liver size. After 24 weeks of treatment, patient A walked 40 m (36%) and patient B walked 66 m (58%) more in the walk test than at baseline. After 48 weeks, in patient A the corresponding improvements were 142 m (129%) in the walk test and 33 stairs (60%) in the 3-minute stair climbing test, and in patient B the respective improvements were 198 m (174%) and 77 stairs (140%). There was a significant decline in urinary glycosaminoglycan excretion and improvement in range of motion of joints in both patients. The auto-continuous positive airway pressure study revealed improvements in patient A, while other efficacy variables remained static. There were no drug-related adverse events or allergic reactions reported during and after the infusions of recombinant human arylsulfatase B. Recombinant human arylsulfatase B significantly improves endurance and reduces urinary glycosaminoglycan excretion. The drug is generally safe and well tolerated. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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