Published online November 9, 2009
PEDIATRICS (doi:10.1542/peds.2008-0999)

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Special Articles

Multidisciplinary Management of Hunter Syndrome

Joseph Muenzer, MD, PhD^a, M. Beck, MD^b, C. M. Eng, MD^c, M. L. Escolar, MD^a, R. Giugliani, MD, PhD^d, N. H. Guffon, MD^e, P. Harmatz, MD^f, W. Kamin, MD^b, C. Kampmann, MD^b, S. T. Koseoglu, MD^f, B. Link, MD^g, R. A. Martin, MD^h, D. W. Molter, MDⁱ, M. V. Muñoz Rojas, MD^d, J. W. Ogilvie, MD^j, R. Parini, MD^k, U. Ramaswami, MD^l, M. Scarpa, MD, PhD^m, I. V. Schwartz, MD, PhD^d, R. E. Wood, MD, PhDⁿ and E. Wraith, MD^o

^aDepartment of Pediatrics, University of North Carolina, Chapel Hill, North Carolina;
^bVilla Metabolica, Children's Hospital, University of Mainz, Mainz, Germany;
^cDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas;
^dMedical Genetics Service, Hospital de Clinicas de Porto Alegre, and Department of Genetics, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil;
^eHôpital Edouard Herriot Pavilion S, Maladies Metaboliques, Lyon, France;
^fDivision of Ophthalmology, Children's Hospital and Research Center Oakland, Oakland, California;
^gOrthopedic Department, University Hospital Johannes Gutenberg-University, Mainz, Germany;
^hDivision of Medical Genetics, St Louis University, St Louis, Missouri;
ⁱDepartment of Otolaryngology, Washington University in St Louis, St Louis, Missouri;
^jDepartment of Orthopaedic Surgery, University of Utah School of Medicine, St Lake City, Utah;
^kPediatric Department, Ospedale San Gerardo, Monza, Italy;
^lPaediatric Metabolic Unit, Addenbrooke's Hospital, Cambridge, United Kingdom;
^mDepartment of Pediatrics, University of Padova, Padova, Italy;
ⁿDivision of Pulmonary Medicine, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio;
^oInherited Metabolic Medicine, Genetic Medicine, St. Mary's Hospital, Manchester, United Kingdom

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.

Key Words: Hunter syndrome • mucopolysaccharidosis II • lysosomal storage diseases • enzyme-replacement therapy

Abbreviations: ERT, enzyme-replacement therapy

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Accepted Dec 11, 2009.

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