| Enzyme replacement therapy for mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): experience in Hong Kong. | |
| | |
MedLine Citation:
|
PMID: 21813902 Owner: NLM Status: In-Data-Review |
Abstract/OtherAbstract:
|
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. |
| | |
Authors:
|
W M But; M Y Wong; J Ck Chow; W Ky Chan; W T Ko; S P Wu; M L Wong; T Y Miu; W Y Tse; W Wy Hung; T W Fan; C C Shek |
Publication Detail:
|
Type: Journal Article |
Journal Detail:
|
Title: Hong Kong medical journal = Xianggang yi xue za zhi / Hong Kong Academy of Medicine Volume: 17 ISSN: 1024-2708 ISO Abbreviation: Hong Kong Med J Publication Date: 2011 Aug |
Date Detail:
|
Created Date: 2011-08-04 Completed Date: - Revised Date: - |
Medline Journal Info:
|
Nlm Unique ID: 9512509 Medline TA: Hong Kong Med J Country: China |
Other Details:
|
Languages: eng Pagination: 317-24 Citation Subset: IM |
Affiliation:
|
Department of Paediatrics, Queen Elizabeth Hospital, 30 Gascoigne Road, Hong Kong. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
|
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Treatment of patients with chronic obstructive pulmonary disease as practised in a defined Hong Kong...
Next Document: Post-oesophagectomy anastomotic-bronchial fistula.