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Musculoskeletal manifestations in mucopolysaccharidosis type I (Hurler syndrome) following hematopoietic stem cell transplantation.造血干细胞移植后黏多糖贮积症I型（Hurler综合征）的肌肉骨骼表现
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2
Progression of Hip Dysplasia in Mucopolysaccharidosis Type I Hurler After Successful Hematopoietic Stem Cell Transplantation.Ⅰ型黏多糖贮积症（Hurler综合征）患者造血干细胞移植成功后髋关节发育不良的进展
J Bone Joint Surg Am. 2016 Mar 2;98(5):386-95. doi: 10.2106/JBJS.O.00601.
3
A Long-term Retrospective Evaluation of Functional and Radiographic Outcomes of Pediatric Hip Surgery in Hurler Syndrome.黏多糖贮积症I型患儿髋关节手术功能及影像学结果的长期回顾性评估
J Pediatr Orthop. 2016 Jan;36(1):25-8. doi: 10.1097/BPO.0000000000000385.
4
Total hip arthroplasty in very young bone marrow transplant patients.非常年轻的骨髓移植患者的全髋关节置换术
J Surg Orthop Adv. 2015 Summer;24(2):99-104. doi: 10.3113/jsoa.2015.0099.
5
Treatment of hip dysplasia in patients with mucopolysaccharidosis type I after hematopoietic stem cell transplantation: results of an international consensus procedure.I 型黏多糖贮积症患者造血干细胞移植后髋关节发育不良的治疗：国际共识方案的结果。
Orphanet J Rare Dis. 2013 Oct 3;8:155. doi: 10.1186/1750-1172-8-155.
6
Total Hip Arthroplasty in Mucopolysaccharidosis Type IH.黏多糖贮积症 I 型中的全髋关节置换术
Case Rep Orthop. 2011;2011:832439. doi: 10.1155/2011/832439. Epub 2012 Jan 26.
7
Musculoskeletal manifestations of Hurler syndrome: long-term follow-up after bone marrow transplantation.黏多糖贮积症I型的肌肉骨骼表现：骨髓移植后的长期随访
J Pediatr Orthop. 2004 Jan-Feb;24(1):97-101. doi: 10.1097/00004694-200401000-00019.
8
The presenting features of mucopolysaccharidosis type IH (Hurler syndrome).I型黏多糖贮积症（Hurler综合征）的临床表现。
Acta Paediatr. 1995 Mar;84(3):337-9. doi: 10.1111/j.1651-2227.1995.tb13640.x.
9
Reversal of clinical features of Hurler's disease and biochemical improvement after treatment by bone-marrow transplantation.骨髓移植治疗后，黏多糖贮积症I型临床特征的逆转及生化指标的改善。
Lancet. 1981 Oct 3;2(8249):709-12. doi: 10.1016/s0140-6736(81)91046-1.
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Relative frequency of the Hurler and Hunter syndromes.
N Engl J Med. 1971 Jan 28;284(4):221-2. doi: 10.1056/NEJM197101282840425.

黏多糖贮积症I型患者的全髋关节置换术——8年随访——病例报告并文献复习

Total hip arthroplasty in Hurler syndrome - 8 years follow up - A case report with review of literature.

作者信息

Gautam Deepak, Malhotra Rajesh

机构信息

Department of Orthopedics, All India Institute of Medical Sciences (AIIMS), New Delhi 110029, India.

出版信息

J Orthop. 2018 Feb 2;15(1):111-113. doi: 10.1016/j.jor.2018.01.036. eCollection 2018 Mar.

DOI:10.1016/j.jor.2018.01.036
PMID:29657451
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5895911/
Abstract

Life expectancy in Hurler syndrome is significantly improved by enzyme therapy with bone marrow transplantation. However, the deterioration of skeletal abnormalities persists. Hip dysplasia is a common presentation which may progress to significant hip arthritis requiring total hip arthroplasty at later stage. We report a long-term outcome of cementless total hip arthroplasty in a patient with Hurler syndrome who was successfully treated with bone marrow transplant.

摘要

通过骨髓移植进行酶替代疗法可显著提高黏多糖贮积症I型（Hurler综合征）患者的预期寿命。然而，骨骼异常仍会持续恶化。髋关节发育不良是常见表现，可能会发展为严重的髋关节炎，后期需要进行全髋关节置换术。我们报告了1例接受骨髓移植成功治疗的Hurler综合征患者接受非骨水泥型全髋关节置换术的长期疗效。