文章基本信息

标题：Therapy-type related long-term outcomes in mucopolysaccaridosis type II (Hunter syndrome) – Case series
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作者：Mojca Zerjav Tansek ; Jana Kodric ; Simona Klemencic 等
期刊名称：Molecular Genetics and Metabolism Reports
印刷版ISSN：2214-4269
出版年度：2021
卷号：28
页码：100779
DOI：10.1016/j.ymgmr.2021.100779
出版社：Elsevier B.V.
摘要：Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is a rare, X-linked recessive multisystem lysosomal storage disease due to iduronate-2-sulfatase enzyme deficiency. We presented three unrelated Slovenian patients with the severe form of MPS II that received three different management approaches: natural course of the disease without received specific treatment, enzyme replacement therapy (ERT), and hematopoietic stem cell transplantation (HSCT). The decision on the management depended on disease severity, degree of cognitive impairment, and parent's informed decision. The current benefits of MPS II treatments are limited. The lifelong costly intravenous ERT brings significant benefits but the patients with severe phenotypes and neurological involvement progress to cognitive decline and disability regardless of ERT, as demonstrated in published reviews and our case series. The patient after HSCT was the only one of the three cases reported to show a slowly progressing cognitive development. The type of information from the case series is insufficient for generalized conclusions, but with advanced myeloablative conditioning, HSCT may be a preferred treatment option in early diagnosed MPS II patients with the severe form of the disease and low disease burden at the time of presentation.
关键词：MPS ; Mucopolysaccharidosis type II ; Hunter syndrome ; Hematopoietic stem cell transplantation ; HSCT; enzyme replacement therapy