Therapy-type related long-term outcomes in mucopolysaccaridosis type II (Hunter syndrome) : case series

Žerjav-Tanšek, Mojca (author), Kodrič, Jana (author), Klemenčič, Simona (author), Boelens, Jaap Jan (author), van Hasselt, Peter M. (author), Drole Torkar, Ana (author), Dorič, Maja (author), Koren, Alenka (author), Avčin, Simona (author), Battelino, Tadej (author), Grošelj, Urh (author)

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.

• Language: English
• Keywords: MPS, mucopolysaccharidosis type II, Hunter syndrome, hematopoietic stem cell transplantation, HSCT, enzyme replacement therapy
• Work type: Article
• Typology: 1.02 - Review Article
• Organization: MF - Faculty of Medicine
• Publication status: Published
• Publication version: Version of Record
• Year: 2021
• Number of pages: 6 str.
• Numbering: Vol. 28, art. 100779
• PID: 20.500.12556/RUL-138711
• UDC: 616
• ISSN on article: 2214-4269
• DOI: 10.1016/j.ymgmr.2021.100779
• COBISS.SI-ID: 68721667
• Publication date in RUL: 10.08.2022

Record is a part of a journal

• Title: Molecular genetics and metabolism reports
• Publisher: Elsevier
• ISSN: 2214-4269
• COBISS.SI-ID: 520387097

Licences

• License: CC BY 4.0, Creative Commons Attribution 4.0 International
• Link: http://creativecommons.org/licenses/by/4.0/
• Description: This is the standard Creative Commons license that gives others maximum freedom to do what they want with the work as long as they credit the author.

Secondary language

• Language: Slovenian
• Keywords: MPS, mukopolisaharidoza tipa 2, Hunterjev sindrom, transplantacija matičnih celic, encimska nadomestna terapija, redke bolezni

Projects

• Funder: ARRS - Slovenian Research Agency
• Project number: P3-0343
• Name: Etiologija, zgodnje odkrivanje in zdravljenje bolezni pri otrocih in mladostnikih

• Funder: EC - European Commission
• Name: European Reference Network for Rare Hereditary Metabolic Disorders
• Acronym: MetabERN