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

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

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.

• Jezik: Angleški jezik
• Ključne besede: MPS, mucopolysaccharidosis type II, Hunter syndrome, hematopoietic stem cell transplantation, HSCT, enzyme replacement therapy
• Vrsta gradiva: Članek v reviji
• Tipologija: 1.02 - Pregledni znanstveni članek
• Organizacija: MF - Medicinska fakulteta
• Status publikacije: Objavljeno
• Različica publikacije: Objavljena publikacija
• Leto izida: 2021
• Št. strani: 6 str.
• Številčenje: Vol. 28, art. 100779
• PID: 20.500.12556/RUL-138711
• UDK: 616
• ISSN pri članku: 2214-4269
• DOI: 10.1016/j.ymgmr.2021.100779
• COBISS.SI-ID: 68721667
• Datum objave v RUL: 10.08.2022

Gradivo je del revije

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

Licence

• Licenca: CC BY 4.0, Creative Commons Priznanje avtorstva 4.0 Mednarodna
• Povezava: http://creativecommons.org/licenses/by/4.0/deed.sl
• Opis: To je standardna licenca Creative Commons, ki daje uporabnikom največ možnosti za nadaljnjo uporabo dela, pri čemer morajo navesti avtorja.

Sekundarni jezik

• Jezik: Slovenski jezik
• Ključne besede: MPS, mukopolisaharidoza tipa 2, Hunterjev sindrom, transplantacija matičnih celic, encimska nadomestna terapija, redke bolezni

Projekti

• Financer: ARRS - Agencija za raziskovalno dejavnost Republike Slovenije
• Številka projekta: P3-0343
• Naslov: Etiologija, zgodnje odkrivanje in zdravljenje bolezni pri otrocih in mladostnikih

• Financer: EC - European Commission
• Naslov: European Reference Network for Rare Hereditary Metabolic Disorders
• Akronim: MetabERN