Multidisciplinary management of Hunter syndrome

Joseph Muenzer, M. Beck, C. M. Eng, M. L. Escolar, R. Giugliani, N. H. Guffon, P. Harmatz, W. Kamin, C. Kampmann, S. T. Koseoglu, B. Link, R. A. Martin, D. W. Molter, M. V.Muñoz Rojas, J. W. Ogilvie, R. Parini, U. Ramaswami, L. M. Scarpa, I. V. Schwartz, R. E. WoodE. Wraith

Research output: Contribution to journalReview articlepeer-review

131 Scopus citations

Abstract

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.

Original languageEnglish
Pages (from-to)e1228-e1239
JournalPediatrics
Volume124
Issue number6
DOIs
StatePublished - Dec 2009

Keywords

  • Enzyme-replacement therapy
  • Hunter syndrome
  • Lysosomal storage diseases
  • Mucopolysaccharidosis II

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