Initial report from the Hunter Outcome Survey

Hunter syndrome (Mucopolysaccharidosis II) is a rare, X-linked disorder of glycosaminoglycan metabolism. 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 th...

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Bibliographic Details
Published in:Genetics in medicine 2008-07, Vol.10 (7), p.508-516
Main Authors: Wraith, J. Edmond, Beck, Michael, Giugliani, Roberto, Clarke, Joe, Martin, Rick, Muenzer, Joseph
Format: Article
Language:English
Subjects:
Body Weights and Measures
Child
Cross-Sectional Studies
enzyme replacement therapy
Female
Glycoproteins - deficiency
Glycoproteins - therapeutic use
Humans
Hunter syndrome
lysosomal storage disease
Male
Mucopolysaccharidosis II
Mucopolysaccharidosis II - drug therapy
Mucopolysaccharidosis II - epidemiology
Mucopolysaccharidosis II - genetics
Mucopolysaccharidosis II - pathology
Mutation - genetics
Phenotype
Prevalence
Treatment Outcome
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Summary:Hunter syndrome (Mucopolysaccharidosis II) is a rare, X-linked disorder of glycosaminoglycan metabolism. 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 pathophysiology 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. 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.). 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 dysmorphism and hepatosplenomegaly were demonstrated by 95% and 89% of patients, respectively. 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.
ISSN:1098-3600
1530-0366
DOI:10.1097/GIM.0b013e31817701e6