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黏多糖贮积症Ⅰ型的骨髓移植。对骨骼发育的影响。

Bone-marrow transplantation in Hurler's syndrome. Effect on skeletal development.

作者信息

Field R E, Buchanan J A, Copplemans M G, Aichroth P M

机构信息

Chelsea and Westminster Hospital, London, England.

出版信息

J Bone Joint Surg Br. 1994 Nov;76(6):975-81.

PMID:7983131
Abstract

Between 1980 and 1988, displacement bone-marrow transplantation was performed on 25 children with Hurler's syndrome (type-1 mucopolysaccharidosis). We describe the musculoskeletal development of 11 of the 12 surviving children and the orthopaedic procedures undertaken to treat progressive thoracolumbar kyphosis, hip subluxation and carpal tunnel syndrome. We found abnormal bone modelling, focal failures of ossification and an avascular disorder of the femoral head in every patient and offer an explanation for these phenomena. Increasing valgus deformity of the knees and progressive generalised myopathy caused loss of mobility as the children entered adolescence. The benefit of bone-marrow transplantation as a treatment for the skeletal disorders of Hurler's syndrome is limited by the poor penetration of the musculoskeletal tissues by the enzyme derived from the leucocytes.

摘要

1980年至1988年间,对25名患有Hurler综合征(I型黏多糖贮积症)的儿童进行了置换性骨髓移植。我们描述了12名存活儿童中11名的肌肉骨骼发育情况,以及为治疗进行性胸腰椎后凸、髋关节半脱位和腕管综合征而采取的骨科手术。我们发现每名患者均存在骨塑形异常、局灶性骨化失败和股骨头缺血性病变,并对这些现象作出了解释。随着患儿进入青春期,膝关节外翻畸形加重和进行性全身性肌病导致活动能力丧失。骨髓移植作为Hurler综合征骨骼疾病的一种治疗方法,其疗效受到白细胞来源的酶在肌肉骨骼组织中渗透性差的限制。

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