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Diseases

Genetic and Rare Diseases Information Center (GARD)

Schimke immunoosseous dysplasia


Other Names for this Disease
  • Spondyloepiphyseal dysplasia nephrotic syndrome
  • Schimke syndrome
  • Immunoosseous dysplasia, schimke type
  • SIOD
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Treatment

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How might Schimke immunoosseous dysplasia be treated?

Treatment of Schimke immunoosseous dysplasia (SIOD) is based on addressing individual symptoms as they develop.  Renal transplantation can treat the renal disease, and bone marrow transplantation has been done to treat the immunodeficiency.  Blood thinning medications can transiently improve blood flow through the atherosclerotic arteries but do not provide enduring relief from cerebral ischemia.  Treatment with acyclovir and some antibacterial agents has been beneficial for preventing of reducing the frequency of opportunistic infections. [1][2] More detailed information about treatment for SIOD can be found on the GeneReview's Web site. Click on the GeneReview link to read more.
Last updated: 10/20/2010

References
  1. Leah I Elizondo, Thomas Luecke, MD, Cornelius F Boerkoel, MD, PhD. Schimke Immunoosseous Dysplasia . GeneReviews. December 7, 2006; http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=siod. Accessed 10/19/2010.
  2. NORD:Schimke Immuno-osseous Dysplasia. NORD. 2008; http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Schimke+Immuno-osseous+Dysplasia. Accessed 10/20/2010.


Management Guidelines

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.

Clinical Trials & Research for this Disease

  • The U.S. National Institutes of Health, through the National Library of Medicine, developed ClinicalTrials.gov to provide patients, family members, and members of the public with current information on clinical research studies. There is a study titled Evaluation and Treatment of Skeletal Diseases which may be of interest to you.
Other Names for this Disease
  • Spondyloepiphyseal dysplasia nephrotic syndrome
  • Schimke syndrome
  • Immunoosseous dysplasia, schimke type
  • SIOD
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.