无关脐带血移植治疗青少年脑硫脂沉积病：3 名发病同胞的 5 年随访研究
Unrelated umbilical cord blood transplant for juvenile metachromatic leukodystrophy: a 5-year follow-up in three affected siblings.
机构信息
Neurogenetics Branch, National Institute of Neurological Disorders and Stroke/NIH, Bethesda, MD 20892, USA.
出版信息
Mol Genet Metab. 2011 Feb;102(2):207-9. doi: 10.1016/j.ymgme.2010.10.002. Epub 2010 Oct 28.
Abstract
Unrelated umbilical cord blood transplantation (UCBT) was used to treat three siblings with juvenile metachromatic leukodystrophy (jMLD). The efficacy of this therapy was measured over a 5-year period with serial neurological examinations, neuroimaging, nerve conduction studies (NCS), and neuropsychological evaluations (NPE). Outcomes were a function of disease stage at time of UCBT with alteration of disease course occurring in the first 2 years after UCBT and then subsequent halting of progression and stabilization of symptoms and disease.
摘要
采用非亲缘脐带血移植（UCBT）治疗了 3 名患有幼年型黏脂贮积症（jMLD）的同胞。通过连续的神经学检查、神经影像学、神经传导研究（NCS）和神经心理学评估（NPE），对该治疗的疗效进行了 5 年的评估。移植时疾病阶段是影响结果的关键因素，UCBT 后 2 年内疾病进程发生改变，随后疾病进展停止，症状和疾病稳定。
相似文献
1
Unrelated umbilical cord blood transplant for juvenile metachromatic leukodystrophy: a 5-year follow-up in three affected siblings.无关脐带血移植治疗青少年脑硫脂沉积病：3 名发病同胞的 5 年随访研究
Mol Genet Metab. 2011 Feb;102(2):207-9. doi: 10.1016/j.ymgme.2010.10.002. Epub 2010 Oct 28.
2
Umbilical cord blood transplantation for juvenile metachromatic leukodystrophy.脐带血移植治疗青少年异染性脑白质营养不良
Ann Neurol. 2008 Nov;64(5):583-7. doi: 10.1002/ana.21522.
3
Outcome of Early Juvenile Onset Metachromatic Leukodystrophy After Unrelated Cord Blood Transplantation: A Case Series and Review of the Literature.无关脐血移植后早发型幼年型异染性脑白质营养不良的结局：病例系列及文献综述
J Child Neurol. 2016 Mar;31(3):338-44. doi: 10.1177/0883073815595078. Epub 2015 Jul 17.
4
Neurodevelopmental outcomes of umbilical cord blood transplantation in metachromatic leukodystrophy.脐血移植治疗黏脂贮积症的神经发育转归。
Biol Blood Marrow Transplant. 2013 Apr;19(4):616-24. doi: 10.1016/j.bbmt.2013.01.010. Epub 2013 Jan 22.
5
Stabilization of juvenile metachromatic leukodystrophy after bone marrow transplantation: a 13-year follow-up.骨髓移植后青少年异染性脑白质营养不良的病情稳定：13年随访
J Child Neurol. 2007 Sep;22(9):1139-42. doi: 10.1177/0883073807306256.
6
[Metachromatic Leukodystrophy (MLD): MRI findings].[异染性脑白质营养不良（MLD）：磁共振成像（MRI）表现]
Rofo. 2011 Oct;183(10):893-5.
7
Juvenile metachromatic leukodystrophy: neurological outcome two years after bone marrow transplantation.青少年异染性脑白质营养不良：骨髓移植两年后的神经学转归
J Inherit Metab Dis. 1995;18(2):159-61. doi: 10.1007/BF00711755.
8
Juvenile-onset metachromatic leukodystrophy: biochemical and electrophysiologic studies.青少年型异染性脑白质营养不良：生化与电生理研究
Neurology. 1979 Mar;29(3):346-3. doi: 10.1212/wnl.29.3.346.
9
Lentivirus-modified hematopoietic stem cell gene therapy for advanced symptomatic juvenile metachromatic leukodystrophy: a long-term follow-up pilot study.慢病毒修饰造血干细胞基因疗法治疗晚期有症状的青少年异染性脑白质营养不良：一项长期随访的试点研究。
Protein Cell. 2025 Jan 4;16(1):16-27. doi: 10.1093/procel/pwae037.
10
Haematopoietic stem cell transplantation does not retard disease progression in the psycho-cognitive variant of late-onset metachromatic leukodystrophy.造血干细胞移植不会延缓晚发性异染性脑白质营养不良的精神认知变异型的疾病进展。
J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S471-5. doi: 10.1007/s10545-010-9240-1. Epub 2010 Nov 16.
引用本文的文献
1
Clinical and Radiological Profile of Nine Patients with Metachromatic Leukodystrophy.9例异染性脑白质营养不良患者的临床及影像学特征
Mol Syndromol. 2025 Apr;16(2):138-151. doi: 10.1159/000540925. Epub 2024 Sep 18.
2
Biochemical and molecular analysis of pediatric patients with metachromatic leukodystrophy in South China: functional characterization of five novel ARSA variants.中国南方儿童进行性脑白质营养不良患者的生化和分子分析：五个新型 ARSA 变异体的功能特征。
Metab Brain Dis. 2024 Jun;39(5):753-762. doi: 10.1007/s11011-024-01348-1. Epub 2024 May 22.
3
The natural history and burden of illness of metachromatic leukodystrophy: a systematic literature review.脑硫脂沉积病的自然病史和疾病负担：系统文献回顾。
Eur J Med Res. 2024 Mar 18;29(1):181. doi: 10.1186/s40001-024-01771-1.
4
Early clinical course after hematopoietic stem cell transplantation in children with juvenile metachromatic leukodystrophy.青少年异染性脑白质营养不良患儿造血干细胞移植后的早期临床病程
Mol Cell Pediatr. 2020 Sep 3;7(1):12. doi: 10.1186/s40348-020-00103-7.
5
Peripheral neuropathy in metachromatic leukodystrophy: current status and future perspective.脑硫脂沉积病周围神经病：现状与展望。
Orphanet J Rare Dis. 2019 Nov 4;14(1):240. doi: 10.1186/s13023-019-1220-4.
6
Phenotypic variation between siblings with Metachromatic Leukodystrophy.同患异染性脑白质营养不良的兄弟姐妹间的表型差异。
Orphanet J Rare Dis. 2019 Jun 11;14(1):136. doi: 10.1186/s13023-019-1113-6.
7
Gene therapy for metachromatic leukodystrophy.用于异染性脑白质营养不良的基因治疗。
J Neurosci Res. 2016 Nov;94(11):1169-79. doi: 10.1002/jnr.23792.
8
Long-term outcomes after allogeneic hematopoietic stem cell transplantation for metachromatic leukodystrophy: the largest single-institution cohort report.异基因造血干细胞移植治疗异染性脑白质营养不良的长期预后：最大单中心队列报告
Orphanet J Rare Dis. 2015 Aug 7;10:94. doi: 10.1186/s13023-015-0313-y.
9
Emerging treatments for pediatric leukodystrophies.儿童脑白质营养不良的新兴治疗方法。
Pediatr Clin North Am. 2015 Jun;62(3):649-66. doi: 10.1016/j.pcl.2015.03.006. Epub 2015 Apr 8.
10
Disease specific therapies in leukodystrophies and leukoencephalopathies.脑白质营养不良和脑白质病的疾病特异性疗法。
Mol Genet Metab. 2015 Apr;114(4):527-36. doi: 10.1016/j.ymgme.2015.01.014. Epub 2015 Feb 7.
本文引用的文献
1
Metachromatic leukodystrophy: a scoring system for brain MR imaging observations.脑磁共振成像观察的脑硫脂沉积病评分系统。
AJNR Am J Neuroradiol. 2009 Nov;30(10):1893-7. doi: 10.3174/ajnr.A1739. Epub 2009 Oct 1.
2
Umbilical cord blood transplantation for juvenile metachromatic leukodystrophy.脐带血移植治疗青少年异染性脑白质营养不良
Ann Neurol. 2008 Nov;64(5):583-7. doi: 10.1002/ana.21522.
3
Metachromatic leukodystrophy: genetics, pathogenesis and therapeutic options.异染性脑白质营养不良：遗传学、发病机制及治疗选择
Acta Paediatr. 2008 Apr;97(457):15-21. doi: 10.1111/j.1651-2227.2008.00648.x.
4
Stabilization of juvenile metachromatic leukodystrophy after bone marrow transplantation: a 13-year follow-up.骨髓移植后青少年异染性脑白质营养不良的病情稳定：13年随访
J Child Neurol. 2007 Sep;22(9):1139-42. doi: 10.1177/0883073807306256.
5
Gene therapy of metachromatic leukodystrophy reverses neurological damage and deficits in mice.异染性脑白质营养不良的基因治疗可逆转小鼠的神经损伤和缺陷。
J Clin Invest. 2006 Nov;116(11):3070-82. doi: 10.1172/JCI28873.
6
Results of the cord blood transplantation study (COBLT): outcomes of unrelated donor umbilical cord blood transplantation in pediatric patients with lysosomal and peroxisomal storage diseases.脐血移植研究（COBLT）结果：溶酶体和过氧化物酶体贮积症患儿接受非亲属供者脐血移植的结局
Biol Blood Marrow Transplant. 2006 Feb;12(2):184-94. doi: 10.1016/j.bbmt.2005.09.016.
7
Transplantation of umbilical-cord blood in babies with infantile Krabbe's disease.脐带血移植治疗婴儿型克拉伯病患儿
N Engl J Med. 2005 May 19;352(20):2069-81. doi: 10.1056/NEJMoa042604.
8
Enzyme replacement improves nervous system pathology and function in a mouse model for metachromatic leukodystrophy.酶替代疗法改善了异染性脑白质营养不良小鼠模型的神经系统病理学和功能。
Hum Mol Genet. 2005 May 1;14(9):1139-52. doi: 10.1093/hmg/ddi126. Epub 2005 Mar 16.
9
Hematopoietic cell transplantation for inherited metabolic diseases: an overview of outcomes and practice guidelines.遗传性代谢疾病的造血细胞移植：结局与实践指南概述
Bone Marrow Transplant. 2003 Feb;31(4):229-39. doi: 10.1038/sj.bmt.1703839.
10
The efficacy of enzyme replacement therapy in patients with chronic neuronopathic Gaucher's disease.酶替代疗法对慢性神经病变型戈谢病患者的疗效。
J Pediatr. 2001 Apr;138(4):539-47. doi: 10.1067/mpd.2001.112171.
Zotero 插件