Multidisciplinary Management of Hunter Syndrome

Hunter syndrome is a rare, X-linked disorder caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase. In the absence of sufficient enzyme activity, glycosaminoglycans accumulate in the lysosomes of many tissues and organs and contribute to the multisystem, progressive pathologies seen i...

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Bibliographic Details
Published in:	Pediatrics (Evanston) Vol. 124; no. 6; pp. e1228 - e1239
Main Authors:	Muenzer, Joseph, Beck, M, Eng, C. M, Escolar, M. L, Giugliani, R, Guffon, N. H, Harmatz, P, Kamin, W, Kampmann, C, Koseoglu, S. T, Link, B, Martin, R. A, Molter, D. W, Munoz Rojas, M. V, Ogilvie, J. W, Parini, R, Ramaswami, U, Scarpa, M, Schwartz, I. V, Wood, R. E, Wraith, E
Format:	Journal Article
Language:	English
Published:	United States Am Acad Pediatrics 01-12-2009
Subjects:	Adolescent Adult Child Child, Preschool Combined Modality Therapy Cooperative Behavior Enzyme Replacement Therapy Genotype Hematopoietic Stem Cell Transplantation Humans Iduronate Sulfatase - adverse effects Infant Infant, Newborn Infusions, Intravenous Interdisciplinary Communication Male Mucopolysaccharidosis II - genetics Mucopolysaccharidosis II - therapy Patient Care Team Phenotype Randomized Controlled Trials as Topic Recombinant Proteins - administration & dosage Young Adult
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Summary:	Hunter syndrome is a rare, X-linked disorder caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase. In the absence of sufficient enzyme activity, glycosaminoglycans accumulate in the lysosomes of many tissues and organs and contribute to the multisystem, progressive pathologies seen in Hunter syndrome. The nervous, cardiovascular, respiratory, and musculoskeletal systems can be involved in individuals with Hunter syndrome. Although the management of some clinical problems associated with the disease may seem routine, the management is typically complex and requires the physician to be aware of the special issues surrounding the patient with Hunter syndrome, and a multidisciplinary approach should be taken. Subspecialties such as otorhinolaryngology, neurosurgery, orthopedics, cardiology, anesthesiology, pulmonology, and neurodevelopment will all have a role in management, as will specialty areas such as physiotherapy, audiology, and others. The important management topics are discussed in this review, and the use of enzyme-replacement therapy with recombinant human iduronate-2-sulfatase as a specific treatment for Hunter syndrome is presented.
Bibliography:	ObjectType-Article-2 SourceType-Scholarly Journals-1 ObjectType-Feature-3 content type line 23 ObjectType-Review-1
ISSN:	0031-4005 1098-4275
DOI:	10.1542/peds.2008-0999