Multidisciplinary management of Hunter syndrome

Pediatrics. 2009 Dec;124(6):e1228-39. doi: 10.1542/peds.2008-0999. Epub 2009 Nov 9.

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.

Publication types

  • Review

MeSH terms

  • 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

Substances

  • Recombinant Proteins
  • Iduronate Sulfatase
  • idursulfase