Title |
Home treatment in paediatric patients with Hunter syndrome: the first Italian experience
|
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Published in |
Italian Journal of Pediatrics, September 2013
|
DOI | 10.1186/1824-7288-39-53 |
Pubmed ID | |
Authors |
Ferdinando Ceravolo, Italia Mascaro, Simona Sestito, Elisa Pascale, Antonino Lauricella, Elio Dizione, Daniela Concolino |
Abstract |
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. |
X Demographics
Geographical breakdown
Country | Count | As % |
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Spain | 1 | 50% |
Unknown | 1 | 50% |
Demographic breakdown
Type | Count | As % |
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Members of the public | 2 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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Unknown | 48 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
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Researcher | 8 | 17% |
Student > Master | 7 | 15% |
Other | 5 | 10% |
Unspecified | 5 | 10% |
Student > Doctoral Student | 4 | 8% |
Other | 7 | 15% |
Unknown | 12 | 25% |
Readers by discipline | Count | As % |
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Medicine and Dentistry | 10 | 21% |
Unspecified | 5 | 10% |
Nursing and Health Professions | 3 | 6% |
Pharmacology, Toxicology and Pharmaceutical Science | 2 | 4% |
Biochemistry, Genetics and Molecular Biology | 2 | 4% |
Other | 10 | 21% |
Unknown | 16 | 33% |