1. Mucopolysaccharidosis VI: the Italian experience.
- Author
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Scarpa, Maurizio, Barone, Rita, Fiumara, Agata, Astarita, Luca, Parenti, Giancarlo, Rampazzo, Angelica, Sala, Stefania, Sorge, Giovanni, and Parini, Rossella
- Subjects
MUCOPOLYSACCHARIDOSIS treatment ,INTELLECTUAL disabilities ,DIAGNOSIS ,HEART valve diseases ,SHORT stature ,ENZYMES ,COMPARATIVE studies ,RESEARCH methodology ,MEDICAL cooperation ,MUCOPOLYSACCHARIDOSIS ,RESEARCH ,RESEARCH funding ,EVALUATION research ,TREATMENT effectiveness - Abstract
The current paper describes the natural history and management of mucopolysaccharidosis VI (MPS VI) in all patients currently diagnosed with the disease in Italy. Nine patients (5.5-14.4 years) were included in the data review in March 2008. Gestational and perinatal data were normal for all patients. Median age at diagnosis was 1.9 years. During the course of the disease, all patients developed coarsened facial features, short stature, heart valve disease, eye problems, musculoskeletal problems, hepatosplenomegaly and neurological abnormalities. All patients received rhASB enzyme replacement therapy (ERT) and showed improvement or stabilisation in clinical manifestations after onset of therapy. The most frequently reported improvements were increased joint mobility and reduced hepatosplenomegaly. No relevant safety issues of ERT were reported. In conclusion, patients in Italy with MPS VI are diagnosed early in life. All patients have access to ERT and appear to benefit from this therapy. [ABSTRACT FROM AUTHOR]
- Published
- 2009
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