Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy.
Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy.
复制标题
DOI：
10.1007/s00431-007-0635-4
复制
发表时间：
2008-03
影响因子：
3.6
通讯作者：
Zeman, Jiri
中科院分区：
文献类型：
--
作者：
Wraith, J. Edmond;Scarpa, Maurizio;Beck, Michael;Bodamer, Olaf A.;De Meirleir, Linda;Guffon, Nathalie;Lund, Allan Meldgaard;Malm, Gunilla;Van der Ploeg, Ans T.;Zeman, Jiri
关键词：
粘多糖样沉积症II型（MPS II;亨特氏综合征）是一种罕见的X连锁隐性遗传疾病，由溶酶体酶艾杜糖醛酸-2-硫酸酯酶缺乏引起，导致糖胺聚糖在几乎所有细胞类型、组织和器官中进行性蓄积。临床表现包括严重的呼吸道阻塞、骨骼畸形、心肌病，并且在大多数患者中，神经功能下降。死亡通常发生在生命的第二个十年，尽管一些病情较轻的患者存活到第五或第六个十年。直到最近，MPS II还没有有效的治疗方法，治疗一直是姑息性的。然而，现在已经引入了使用重组人艾杜糖醛酸-2-硫酸酯酶（艾度硫酸酯酶）的酶替代疗法（ERT）。已证明每周静脉输注艾度硫酸酯酶可改善MPS II患者的许多体征和症状以及总体健康状况。本文概述了MPS II患者的临床表现、诊断和症状管理，并提供了使用ERT的建议。还讨论了治疗非常年轻的患者和那些中枢神经系统受累的问题。ERT联合艾度硫酸酯酶有可能使许多MPS II患者获益，尤其是在病程早期开始的患者。
Mucopolysaccharidosis type II (MPS II; Hunter syndrome) is a rare X-linked recessive disease caused by deficiency of the lysosomal enzyme iduronate-2-sulphatase, leading to progressive accumulation of glycosaminoglycans in nearly all cell types, tissues and organs. Clinical manifestations include severe airway obstruction, skeletal deformities, cardiomyopathy and, in most patients, neurological decline. Death usually occurs in the second decade of life, although some patients with less severe disease have survived into their fifth or sixth decade. Until recently, there has been no effective therapy for MPS II, and care has been palliative. Enzyme replacement therapy (ERT) with recombinant human iduronate-2-sulphatase (idursulfase), however, has now been introduced. Weekly intravenous infusions of idursulfase have been shown to improve many of the signs and symptoms and overall wellbeing in patients with MPS II. This paper provides an overview of the clinical manifestations, diagnosis and symptomatic management of patients with MPS II and provides recommendations for the use of ERT. The issue of treating very young patients and those with CNS involvement is also discussed. ERT with idursulfase has the potential to benefit many patients with MPS II, especially if started early in the course of the disease.
登录
查看更多内容
影响因子：
3.8
作者：
Muenzer, Joseph;Gucsavas-Calikoglu, Muge;Kimura, Alan
通讯作者：
Kimura, Alan
影响因子：
1.9
作者：
Rigante, D;Segni, G
通讯作者：
Segni, G
影响因子：
4.1
作者：
BECK, M;COLE, G
通讯作者：
COLE, G
影响因子：
5.3
作者：
Poorthuis, BJHM;Wevers, RA;van Diggelen, OP
通讯作者：
van Diggelen, OP
DOI：
10.1302/0301-620x.79b4.7547
发表时间：
1997-07-01
影响因子：
--
作者：
Haddad, FS;Jones, DHA;Pitt, MC
通讯作者：
Pitt, MC