20.500.12556/RUL-138711 Therapy-type related long-term outcomes in mucopolysaccaridosis type II (Hunter syndrome) case series 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. MPS mucopolysaccharidosis type II Hunter syndrome hematopoietic stem cell transplantation HSCT enzyme replacement therapy MPS mukopolisaharidoza tipa 2 Hunterjev sindrom transplantacija matičnih celic encimska nadomestna terapija redke bolezni true false true Angleški jezik Slovenski jezik Članek v reviji 2022-08-10 11:11:27 2022-08-10 11:11:28 2022-09-15 04:17:05 0000-00-00 00:00:00 2021 0 0 6 str. Vol. 28, art. 100779 Sep. 2021 0000-00-00 Zaloznikova Objavljeno NiDoloceno 0000-00-00 0000-00-00 0000-00-00 616 2214-4269 10.1016/j.ymgmr.2021.100779 68721667 1-s2.0-S2214426921000732-main.pdf 1-s2.0-S2214426921000732-main.pdf 1 36329F3BC2C42783ED2A6BACC0B70E15 a55fab0d8de9ee080c965bc8e2e2902a79a54a09b5c3faec7eb80bda14bbe33e a6dbe138-188c-11ed-8aca-00155dcfd717 https://repozitorij.uni-lj.si/Dokument.php?lang=slv&id=159126 https://www.sciencedirect.com/science/article/pii/S2214426921000732 1 20a2344a-188c-11ed-8aca-00155dcfd717 https://repozitorij.uni-lj.si/Dokument.php?lang=slv&id=159125 Medicinska fakulteta 0 0 0