Schimke immuno-osseous dysplasia

SIOD causes spondyloepiphyseal dysplasia, causing disproportionate stature, renal dysfunction, lymphocytopenia with T-cell immunodeficiency, facial dysmorfism. Approximately half of all patients also exhibit hyperthyroidism, while around half also exhibit episodal cerebral ischemia. Other features include hyperpigmented macules on the trunk, corneal opacities, other hematological abnormalities.

Therapeutic options

  • Management of SIOD patients is symptomatic. Renal disease progresses from proteinuria to end-stage renal disease. ACE-inhibitor enalapril plus ATII receptor antagonist losartan can reduce proteinuria. Cyclosporin A, tacrolimus, or corticosteroids have had a transient reduction in the rate of renal disease progression. Renal transplantation effectively treats the nephropathy. Prophylaxis against Pneumocystis carinii pneumonia is usually recommended. Bone marrow transplantation (BMT) treats neutropenia resulting in immunodeficiency and recurrent infections.

Research programs, clinical trials