黏多糖贮积症的生长模式及生长激素的使用
Growth patterns and the use of growth hormone in the mucopolysaccharidoses.
作者信息
Polgreen L E, Miller B S
机构信息
University of Minnesota, Department of Pediatrics, Division of Endocrinology, Minneapolis, MN, USA.
出版信息
J Pediatr Rehabil Med. 2010;3(1):25-38. doi: 10.3233/PRM-2010-0106.
Abstract
Short stature is characteristic of patients with mucopolysaccharidosis (MPS) diseases. For children with skeletal dysplasias, such as MPS, it is important to know the natural history of growth. An understanding of the natural growth pattern in each MPS disease provides a measurement to which treatments can be compared, as well as data which can help families and providers make individualized decisions about growth promoting treatments. Multiple advancements have been made in the treatment of MPS with both hematopoietic cell transplantation (HCT) and enzyme replacement therapy (ERT). The long term benefit of these treatments on growth is unknown. This article will review the published data on growth in children with MPS, and describe preliminary data on the use of human growth hormone (hGH) in children with MPS.
摘要
身材矮小是黏多糖贮积症（MPS）患者的特征。对于患有骨骼发育不良的儿童，如MPS患者，了解生长的自然史很重要。了解每种MPS疾病的自然生长模式可提供一个用于比较治疗效果的衡量标准，以及有助于家庭和医疗服务提供者就促进生长的治疗做出个性化决策的数据。造血细胞移植（HCT）和酶替代疗法（ERT）在MPS治疗方面均取得了多项进展。这些治疗对生长的长期益处尚不清楚。本文将回顾已发表的关于MPS患儿生长的数据，并描述使用人生长激素（hGH）治疗MPS患儿的初步数据。
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本文引用的文献
1
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Bone Marrow Transplant. 2009 Sep;44(5):279-85. doi: 10.1038/bmt.2009.31. Epub 2009 Mar 2.
2
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J Clin Endocrinol Metab. 2008 Nov;93(11):4413-7. doi: 10.1210/jc.2008-1239. Epub 2008 Aug 12.
3
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J Clin Endocrinol Metab. 2008 Aug;93(8):2978-83. doi: 10.1210/jc.2007-2600. Epub 2008 May 27.
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Int J Radiat Oncol Biol Phys. 2008 Apr 1;70(5):1343-9. doi: 10.1016/j.ijrobp.2007.08.085. Epub 2007 Dec 31.
8
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9
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10
Long-term safety of recombinant human growth hormone in turner syndrome.重组人生长激素在特纳综合征中的长期安全性。
J Clin Endocrinol Metab. 2008 Feb;93(2):344-51. doi: 10.1210/jc.2007-1723. Epub 2007 Nov 13.
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