Initial report from the Hunter Outcome Survey

• DOI: 10.1097/gim.0b013e31817701e6
• Publication Date: 2009-03-05T20:00:22Z
• Authors: J. Edmond Wraith; Michael Beck; Roberto Giugliani; Joe Clarke; Rick Martin; Joseph Muenzer
• Keywords: Hunter syndrome; Hepatosplenomegaly; Mucopolysaccharidosis type II; Mucopolysaccharidosis; Lysosomal storage disease

Hunter syndrome (Mucopolysaccharidosis II) is a rare, X-linked disorder of glycosaminoglycan metabolism. It caused by deficiency in the lysosomal enzyme iduronate-2-sulfatase, and affected patients accumulates lysosomes various tissues organs contributes to pathophysiology syndrome. The Outcome Survey (HOS) was established better describe natural history this evaluate long-term effect replacement therapy.HOS an international, multicenter, observational survey that will collect data on participating with confirmed diagnosis Data be collected during regular physician examinations entered into electronic database. Examples observations include vital signs, laboratory values, signs symptoms organ involvement, results selected functional tests (e.g., audiometry, echocardiogram, joint mobility, etc.).As May 15, 2007, 263 from 16 countries have enrolled HOS; 24% these were currently being treated therapy. median age at enrollment 12.2 years. onset 1.5 3.5 years, respectively. Otitis media abdominal hernia earliest presenting symptoms. Facial dysmorphism hepatosplenomegaly demonstrated 95% 89% patients, respectively.HOS valuable resource for enhancing understanding provide important information about disease role therapy its treatment. Patients their physicians should encouraged participate.