Home treatment in paediatric patients with Hunter syndrome: the first Italian experience

Italian Journal of Pediatrics

Daniela Concolino²  Elio Dizione²  Antonino Lauricella²  Elisa Pascale²  Simona Sestito²  Italia Mascaro²  Ferdinando Ceravolo¹ 

[1] Present address: Operative Unit of Metabolic Disease, Bambino Gesù Children’s Hospital, Rome, Italy;Department of Paediatrics, University “Magna Graecia” of Catanzaro c/o Ospedale Civile A.Pugliese, Viale Pio X, 88100 Catanzaro, Italy

关键词: Home treatment (max 6);    Mucopolysaccharidoses;    Idursulfase;    Enzyme replacement therapy;    Hunter syndrome;   

Others  :  813250
DOI  :  10.1186/1824-7288-39-53

 received in 2013-06-03, accepted in 2013-09-03,  发布年份 2013

【 摘 要 】

Hunter syndrome (mucopolysaccharidosis type II [MPS II], OMIM309900) is a rare X-linked lysosomal storage disorder caused by the deficiency of the enzyme iduronate-2-sulphatase, resulting in accumulation of glycosaminoglycans, progressive multisystem organ failure, and early death. Enzyme replacement therapy (ERT) with weekly intravenous infusions of idursulfase, a treatment for MPS II and commercially available since 2007, has been shown to improve certain symptoms and signs of the disease. The efficacy and safety data of this enzyme preparation have been widely reported and, after a change to the idursulfase Summary of Product Characteristics in March 2010, home ERT by infusion is now an option for selected patients. Previously reported experiences of home therapy in MPS II have shown increased treatment compliance and an improvement in quality of life for both patients and families. We report the results of the home therapy experience of 3 paediatric patients with MPS II in southern Italy. This pilot experience with home infusion is the first reported from Italy.

【 授权许可】

   
2013 Ceravolo et al.; licensee BioMed Central Ltd.

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