Allogeneic stem cell transplantation for the treatment of lysosomal and peroxisomal metabolic diseases
Allogeneic stem cell transplantation for the treatment of lysosomal and peroxisomal metabolic diseases
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DOI：
10.1007/s00281-004-0166-2
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发表时间：
2004-11-01
期刊：
影响因子：
--
通讯作者：
Krivit, W
中科院分区：
文献类型：
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作者：
Krivit, W
本文综述了异基因造血干细胞移植治疗以下疾病的临床反应和新疗法的前景：（MPS 1-H），球样细胞脑白质营养不良（GLD; Krabbes病）、肾上腺脑白质营养不良、异染性脑白质营养不良、Wolmans病、I细胞病（粘脂沉积症II; MLS-II）、α-甘露糖苷沉积症、岩藻糖苷沉积症、尼曼-皮克病（Niemann-Pick）B/A病、Slys病（MPS VII）、戈谢病（Gaucher-II-III）、Battens病、Farbers病、Sanfilippo综合征（MPS-III）、Hunters病（MPS-II）、Maroteaux-Lamy综合征（MPS-VI）和γ-氨基葡萄糖尿症（AGU）。自世纪前第一位患者接受造血干细胞移植治疗以来，已有超过500例因初级酶缺乏而患有溶酶体和过氧化物酶体代谢性储积病的患者接受了造血干细胞移植治疗。这些年来，正常的酶活性一直是稳健和持续的，不需要任何药物。已报告了多种积极作用的原理证明，包括中枢神经系统重建。此外，需要强调的是，良好的植入率沿着显著降低的移植物抗宿主病。上面列举的遗传性疾病与本期《免疫病理学研讨会》中其他地方讨论的遗传性疾病有显著的不同。每一种都有更大的遗传异质性。误诊导致延误治疗、功能和最终生活质量进一步下降的情况几乎一直存在。新生儿筛查这些疾病将是强制性的，以大大改善结果。目前正在实施计划，使用滤纸上的干血点，这是许多其他遗传疾病的常见做法。许多新的治疗方法正在被采用，这将提高造血干细胞移植治疗的积极性和可接受性。
This is a review of the clinical responses and prospectus of new therapies following use of allogeneic hematopoietic stem cell transplantation for the treatment of the following disorders: Hurlers syndrome ( MPS 1-H), globoid cell leukodystrophy (GLD; Krabbes disease), adrenoleukodystrophy, metachromatic leukodystrophy, Wolmans disease, I-cell disease (mucolipidosis II; MLS-II), alpha-mannosidosis, fucosidosis, Niemann-Pick B/A disease, Slys disease (MPS VII), Gauchers disease (Gaucher-II-III), Battens disease, Farbers disease, Sanfilippo syndrome (MPS-III), Hunters disease (MPS-II), Maroteaux-Lamy syndrome (MPS-VI), and aspartylglucosaminuria (AGU). Over 500 patients with lysosomal and peroxisomal metabolic storage diseases due to deficiency of primary enzymes have been treated with hematopoietic stem cell transplantation since the initial patient was treated a quarter of century ago. Normal enzymatic activity has been robust and continuous over these years without the need for any medication. Proof of principle has been reported for multiple positive effects including that of the reconstruction of the central nervous system. Furthermore, the excellent engraftment rate along with significantly diminished graft-vs-host-disease needs to be emphasized. The genetic diseases enumerated above have remarkable differences from those discussed elsewhere in this issue of Seminars in Immunopathology. Each has a greater genetic heterogeneity. Misdiagnosis resulting in delay of treatment and further decline of function and ultimate quality of life occurs almost all the time. Neonatal screening of these diseases will be mandatory to vastly improve outcomes. Plans are being implemented to use dried blood spots on filter paper, as is commonly done for many other genetic diseases. Many new therapies are being adopted which should enhance positivity and acceptance of treatment by hematopoietic stem cell transplantation.