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。
相似文献
1
Growth patterns and the use of growth hormone in the mucopolysaccharidoses.
J Pediatr Rehabil Med. 2010;3(1):25-38. doi: 10.3233/PRM-2010-0106.
2
Effect of recombinant human growth hormone on changes in height, bone mineral density, and body composition over 1-2 years in children with Hurler or Hunter syndrome.
Mol Genet Metab. 2014 Feb;111(2):101-6. doi: 10.1016/j.ymgme.2013.11.013. Epub 2013 Dec 11.
3
Long-term cognitive and somatic outcomes of enzyme replacement therapy in untransplanted Hurler syndrome.
Mol Genet Metab Rep. 2017 Sep 27;13:64-68. doi: 10.1016/j.ymgmr.2017.07.012. eCollection 2017 Dec.
4
The use of recombinant human growth hormone in patients with Mucopolysaccharidoses and growth hormone deficiency: a case series.
Ital J Pediatr. 2019 Aug 1;45(1):93. doi: 10.1186/s13052-019-0691-1.
5
[Enzyme replacement therapy for mucopolysaccharidoses I, II and VI: recommendations from a group of Brazilian F experts].
Rev Assoc Med Bras (1992). 2010 May-Jun;56(3):271-7. doi: 10.1590/s0104-42302010000300009.
6
The natural history of neurocognition in MPS disorders: A review.
Mol Genet Metab. 2021 May;133(1):8-34. doi: 10.1016/j.ymgme.2021.03.002. Epub 2021 Mar 11.
7
Elevated TNF-α is associated with pain and physical disability in mucopolysaccharidosis types I, II, and VI.
Mol Genet Metab. 2016 Apr;117(4):427-30. doi: 10.1016/j.ymgme.2016.01.012. Epub 2016 Jan 28.
8
Therapies for the bone in mucopolysaccharidoses.
Mol Genet Metab. 2015 Feb;114(2):94-109. doi: 10.1016/j.ymgme.2014.12.001. Epub 2014 Dec 9.
9
Cerebral magnetic resonance findings during enzyme replacement therapy in mucopolysaccharidosis.
Pediatr Radiol. 2017 Nov;47(12):1659-1669. doi: 10.1007/s00247-017-3935-5. Epub 2017 Jul 21.
10
Early initiation of enzyme replacement therapy for the mucopolysaccharidoses.
Mol Genet Metab. 2014 Feb;111(2):63-72. doi: 10.1016/j.ymgme.2013.11.015. Epub 2013 Dec 11.
引用本文的文献
1
Impact of growth hormone on scoliosis.
Pediatr Discov. 2023 Sep 26;1(3):e26. doi: 10.1002/pdi3.26. eCollection 2023 Dec.
2
Impact of hematopoietic stem cell transplantation on growth outcomes in mucopolysaccharidosis: a systematic review.
Clin Exp Pediatr. 2025 Jun;68(6):417-427. doi: 10.3345/cep.2024.01725. Epub 2025 Mar 11.
3
Prevalence and natural history of gibbus deformity in patients with Hurler syndrome.
Neuroradiology. 2024 Nov;66(11):2083-2088. doi: 10.1007/s00234-024-03462-4. Epub 2024 Sep 5.
4
Morquio B disease: a case report.
Front Pediatr. 2024 Mar 4;12:1285414. doi: 10.3389/fped.2024.1285414. eCollection 2024.
5
Increased pituitary volumes in patients with Sanfilippo syndrome (mucopolysaccharidosis type 3, MPS III).
Neuroradiology. 2023 Sep;65(9):1381-1386. doi: 10.1007/s00234-023-03157-2. Epub 2023 May 2.
6
Mucopolysaccharidosis: What Pediatric Rheumatologists and Orthopedics Need to Know.
Diagnostics (Basel). 2022 Dec 27;13(1):75. doi: 10.3390/diagnostics13010075.
7
Growth in individuals with attenuated mucopolysaccharidosis type I during untreated and treated periods: Data from the MPS I registry.
Am J Med Genet A. 2022 Oct;188(10):2941-2951. doi: 10.1002/ajmg.a.62910. Epub 2022 Jul 23.
8
A Case of Growth Hormone Use in Dyggve-Melchior-Clausen Syndrome.
Case Rep Endocrinol. 2022 Mar 15;2022:8542281. doi: 10.1155/2022/8542281. eCollection 2022.
9
Non-cardiac Manifestations in Adult Patients With Mucopolysaccharidosis.
Front Cardiovasc Med. 2022 Mar 7;9:839391. doi: 10.3389/fcvm.2022.839391. eCollection 2022.
10
Growth hormone therapy in short-stature patients with kyphoscoliosis: a literature review.
EFORT Open Rev. 2022 Mar 17;7(3):240-246. doi: 10.1530/EOR-21-0116.
本文引用的文献
1
Short-term growth hormone treatment in children with Hurler syndrome after hematopoietic cell transplantation.
Bone Marrow Transplant. 2009 Sep;44(5):279-85. doi: 10.1038/bmt.2009.31. Epub 2009 Mar 2.
2
The effect of growth hormone replacement on exercise capacity in patients with GH deficiency: a metaanalysis.
J Clin Endocrinol Metab. 2008 Nov;93(11):4413-7. doi: 10.1210/jc.2008-1239. Epub 2008 Aug 12.
3
Muscle function improves during growth hormone therapy in short children born small for gestational age: results of a peripheral quantitative computed tomography study on body composition.
J Clin Endocrinol Metab. 2008 Aug;93(8):2978-83. doi: 10.1210/jc.2007-2600. Epub 2008 May 27.
4
Long-term follow-up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI: Final results of three clinical studies of recombinant human N-acetylgalactosamine 4-sulfatase.
Mol Genet Metab. 2008 Aug;94(4):469-475. doi: 10.1016/j.ymgme.2008.04.001. Epub 2008 May 23.
5
Growth charts for patients affected with Morquio A disease.
Am J Med Genet A. 2008 May 15;146A(10):1286-95. doi: 10.1002/ajmg.a.32281.
6
Growth and endocrine function in patients with Hurler syndrome after hematopoietic stem cell transplantation.
Bone Marrow Transplant. 2008 Jun;41(12):1005-11. doi: 10.1038/bmt.2008.20. Epub 2008 Feb 18.
7
Vertebral body growth after craniospinal irradiation.
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
Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy.
Eur J Pediatr. 2008 Mar;167(3):267-77. doi: 10.1007/s00431-007-0635-4. Epub 2007 Nov 23.
9
Combination of enzyme replacement and hematopoietic stem cell transplantation as therapy for Hurler syndrome.
Bone Marrow Transplant. 2008 Mar;41(6):531-5. doi: 10.1038/sj.bmt.1705934. Epub 2007 Nov 26.
10
Long-term safety of recombinant human growth hormone in turner syndrome.
J Clin Endocrinol Metab. 2008 Feb;93(2):344-51. doi: 10.1210/jc.2007-1723. Epub 2007 Nov 13.
Zotero 插件