59 143

Cited 5 times in

Enzyme replacement therapy improves joint motion and outcome of the 12-min walk test in a mucopolysaccharidosis type VI patient previously treated with bone marrow transplantation

Authors
Sohn, YB; Park, SW; Kim, SH; Cho, SY; Ji, ST; Kwon, EK; Han, SJ; Oh, SJ; Park, YJ; Ko, AR; Paik, KH; Lee, J; Lee, DH; Jin, DK
Citation
American journal of medical genetics. Part A, 158A(5):1158-1163, 2012
Journal Title
American journal of medical genetics. Part A
ISSN
1552-48251552-4833
Abstract
Mucopolysaccharidosis type VI (MPS VI; Maroteaux-Lamy syndrome, OMIM #253200) is a rare disorder involving multiple organs and manifested particularly by severe skeletal abnormalities. Bone marrow transplantation (BMT) improves cardiopulmonary function and facial features, but has limited success in ameliorating skeletal abnormalities and short stature. Here, we report the outcome of enzyme replacement therapy (ERT) with recombinant human arylsulfatase-B (ASB, Naglazyme, BioMarin, Novato, CA) in an MPS VI patient who received BMT 10 years prior to ERT induction. Administration of weekly Naglazyme for 18 months was effective in improving range of motion in several joints [shoulders (improvement of flexion (Right/Left): 40°/55°; improvement of extension 30°/40°; improvement of abduction 10°/10°), elbows (improvement of flexion 25°/25°; improvement of extension 10°/15°), hips (improvement of flexion 25°/10°), and knees (improvement of flexion 45°/40°; improvement of extension 50°/60°)]. Improvement in the outcome of the 12-min walk test (70% increase) and 3-min stair-climbing test (29% increase) was also noted after ERT. Because ERT improved clinical features in an MPS VI patient who had undergone prior BMT, the role of ERT post successful BMT in MPS VI needs further investigation.
MeSH terms
AdolescentBone Marrow Transplantation*Enzyme Replacement TherapyExercise TestFaceFemaleHumansJoints/drug effects/*physiopathologyMucopolysaccharidosis VI/drug therapy/*physiopathology/*therapyN-Acetylgalactosamine-4-Sulfatase/*therapeutic useRange of Motion, ArticularWalking
DOI
10.1002/ajmg.a.35263
PMID
22495825
Appears in Collections:
Journal Papers > School of Medicine / Graduate School of Medicine > Medical Genetics
AJOU Authors
손, 영배
Files in This Item:
fulltext not available.txtDownload
Export
RIS (EndNote)
XLS (Excel)
XML

qrcode

해당 아이템을 이메일로 공유하기 원하시면 인증을 거치시기 바랍니다.

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.

Browse