[Schimke immuno-osseous dysplasia. A pediatric disease reaches adulthood]

Med Klin (Munich). 2006 Mar 15;101(3):208-11. doi: 10.1007/s00063-006-1026-8.
[Article in German]

Abstract

Background: Schimke immuno-osseous dysplasia (SIOD) is a rare autosomal recessive multisystemic disorder caused by mutations of the SMARCAL 1 gene (SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a-like 1).

Clinical features: Main clinical features are: disproportional growth deficiency due to spondyloepiphyseal dysplasia, nephrotic syndrome with focal and segmental glomerulosclerosis, and defective cellular immunity. Patients with severe SIOD have life-limiting complications like cerebral ischemia due to vaso-occlusive processes. Only a few patients reached adulthood.

Case reports: The clinical course of four adult SIOD patients is presented.

Conclusion: Even patients with severe SIOD can reach adulthood. Therefore, doctors working in the field of internal medicine and family doctors should be familiar with the clinical picture of SIOD.

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • Adolescent
  • Adult
  • Age Factors
  • Cause of Death
  • Cerebral Infarction / diagnosis
  • Cerebral Infarction / genetics
  • Cerebral Infarction / immunology
  • Cerebral Infarction / mortality
  • Chromosome Aberrations
  • DNA Helicases / genetics
  • DNA Mutational Analysis
  • Dwarfism / diagnosis
  • Dwarfism / genetics
  • Dwarfism / immunology
  • Dwarfism / mortality
  • Female
  • Genes, Recessive
  • Genotype
  • Glomerulosclerosis, Focal Segmental / diagnosis
  • Glomerulosclerosis, Focal Segmental / genetics
  • Glomerulosclerosis, Focal Segmental / immunology
  • Glomerulosclerosis, Focal Segmental / mortality
  • Humans
  • Immunologic Deficiency Syndromes / diagnosis*
  • Immunologic Deficiency Syndromes / genetics
  • Immunologic Deficiency Syndromes / immunology
  • Immunologic Deficiency Syndromes / mortality
  • Kyphosis / diagnosis
  • Kyphosis / genetics
  • Kyphosis / immunology
  • Kyphosis / mortality
  • Lymphopenia / diagnosis*
  • Lymphopenia / genetics
  • Lymphopenia / immunology
  • Lymphopenia / mortality
  • Male
  • Nephrotic Syndrome / diagnosis
  • Nephrotic Syndrome / genetics
  • Nephrotic Syndrome / immunology
  • Nephrotic Syndrome / mortality
  • Osteochondrodysplasias / diagnosis*
  • Osteochondrodysplasias / genetics
  • Osteochondrodysplasias / immunology
  • Osteochondrodysplasias / mortality
  • Phenotype
  • Prognosis
  • Scoliosis / diagnosis
  • Scoliosis / genetics
  • Scoliosis / immunology
  • Scoliosis / mortality
  • T-Lymphocytes / immunology*

Substances

  • SMARCAL1 protein, human
  • DNA Helicases