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首页> 外文期刊>Journal of Inborn Errors of Metabolism & Screening >Mucopolysaccharidosis VI Evaluation After 2 Years of Treatment
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Mucopolysaccharidosis VI Evaluation After 2 Years of Treatment

机译：治疗2年后粘多糖贮积症VI评估

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Introduction:Mucopolysaccharidosis VI (MPS VI) is the result of the absence of arylsulfatase B leading to the abnormal lysosomal accumulation of glycosaminoglycans. Two different phenotypes have been described to date, namely, rapidly progressive and slowly progressive. Aim:To present the evolution of a slowly progressive phenotype of MPS VI in a patient after 2 years of enzyme replacement therapy. Case report:A 26-year-old man diagnosed with MPS VI at 9 years of age started enzyme replacement therapy with galsulfase due to cardiac, pulmonary, neurologic, and joint involvement. After 10 months of treatment, improvement in quality-of-life scales and walk test was evident. Because of persistent symptomatology associated with narrow cervical spinal canal, decompressive surgery was performed. After 2 years of treatment, there was a clear improvement in the respiratory, motor, and cardiac functions as well as in the spinal symptoms. Discussion:The evolution of our patient leads to the conclusion that the combined treatment of galasulfase and decompressive surgery should be indicated at an early stage in order to achieve best outcome for the patient.
机译：简介：黏多糖贮积症VI（MPS VI）是由于缺少芳基硫酸酯酶B导致糖胺聚糖溶酶体积累异常的结果。迄今为止已经描述了两种不同的表型，即快速进行和缓慢进行。目的：介绍经过两年的酶替代治疗的患者中MPS VI缓慢进展表型的演变。病例报告：一名26岁的男性在9岁时被诊断出患有MPS VI，这是由于心脏，肺，神经系统和关节受累而开始用半硫酸盐酶进行酶替代治疗。治疗10个月后，生活质量量表和步行测试明显改善。由于狭窄的颈椎管伴有持续的症状，因此进行了减压手术。经过2年的治疗，呼吸，运动和心脏功能以及脊柱症状明显改善。讨论：我们患者的病情发展得出结论，应在早期阶段就应联合应用加拉硫酸酶和减压术，以达到患者的最佳疗效。

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