| dc.creator | Wraith, J. Edmond | |
| dc.creator | Beck, Michael | |
| dc.creator | Giugliani, Roberto | |
| dc.creator | Clarke, Joe | |
| dc.creator | Martin, Rick | |
| dc.creator | Muenzer, Joseph | |
| dc.date | 2015-06-09T14:59:25Z | |
| dc.date | 2015-06-09T14:59:25Z | |
| dc.date | 2008 | |
| dc.date.accessioned | 2023-09-27T00:03:53Z | |
| dc.date.available | 2023-09-27T00:03:53Z | |
| dc.identifier | WRAITH, J. Edmond et al. Initial report from the hunter outcome survey. Genetics in Medicine, Baltimore, v. 10, n. 7, p. 508–516, 2008. | |
| dc.identifier | 1098-3600 | |
| dc.identifier | https://www.arca.fiocruz.br/handle/icict/10744 | |
| dc.identifier.uri | https://repositorioslatinoamericanos.uchile.cl/handle/2250/8897072 | |
| dc.description | Purpose:Hunter syndrome (Mucopolysaccharidosis II) is a rare, X-linked disorder of glycosaminoglycan metabo-lism. It is caused by a deficiency in the lysosomal enzyme iduronate-2-sulfatase, and in affected patients
glycosaminoglycan accumulates in lysosomes of various tissues and organs and contributes to the pathophysiol-ogy of Hunter syndrome. The Hunter Outcome Survey (HOS) was established to better describe the natural history
of this disorder and to evaluate the long-term effect of enzyme replacement therapy.Methods:HOS is an
international, multicenter, long-term observational survey that will collect data on participating patients with a
confirmed diagnosis of Hunter syndrome. Data will be collected during regular physician examinations and entered
into an electronic database. Examples of observations include vital signs, laboratory values, signs and symptoms
of organ involvement, and the results of selected functional tests (e.g., audiometry, echocardiogram, joint mobility,
etc.).Results:As of May 15, 2007, 263 patients from 16 countries have enrolled in HOS; 24% of these patients
were currently being treated with enzyme replacement therapy. The median age at enrollment was 12.2 years. The
median age of onset of symptoms and diagnosis of Hunter syndrome were 1.5 and 3.5 years, respectively. Otitis
media and abdominal hernia were the earliest presenting symptoms. Facial dysmorphismand hepatosplenomegaly
were demonstrated by 95% and 89% of patients, respectively.Conclusions:HOS will be a valuable resource for
enhancing the understanding of Hunter syndrome and will provide important information about the natural history
of the disease and the role of enzyme replacement therapy in its treatment. Patients and their physicians should
be encouraged to participate. | |
| dc.format | application/pdf | |
| dc.language | eng | |
| dc.publisher | Nature Publishing Group | |
| dc.rights | restricted access | |
| dc.subject | Mucopolysaccharidosis II | |
| dc.subject | Hunter Syndrome | |
| dc.subject | Enzyme Replacement Therapy | |
| dc.subject | Lysosomal Storage Disease | |
| dc.subject | Mucopolissacaridose II | |
| dc.subject | Terapia de Reposição de Enzimas | |
| dc.title | Initial report from the hunter outcome survey | |
| dc.type | Article | |
