title: [Schimke immuno-osseous dysplasia. A pediatric disease reaches adulthood].
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).
  
  
  METHODS
  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.
  
  
  METHODS
  The clinical course of four adult SIOD patients is presented.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Kinderklinik Abteilung II, Medizinische Hochschule, 30625 Hannover. luecke.thomas@mh-hannover.de
authors.forename: Thomas
authors.initials: T
authors.lastname: Lücke
authors.forename: Nele
authors.initials: N
authors.lastname: Kanzelmeyer
authors.forename: Doris
authors.initials: D
authors.lastname: Franke
authors.forename: Hans
authors.initials: H
authors.lastname: Hartmann
authors.forename: Jochen H H
authors.initials: JH
authors.lastname: Ehrich
authors.forename: Anibh M
authors.initials: AM
authors.lastname: Das
mesh_terms: D000293:Adolescent; D000328:Adult; D000367:Age Factors; D002423:Cause of Death; D002544:Cerebral Infarction / Q000175:diagnosis / Q000235:genetics / Q000276:immunology / Q000401:mortality; D002869:Chromosome Aberrations; D004265:DNA Helicases / Q000235:genetics; D004252:DNA Mutational Analysis; D004392:Dwarfism / Q000175:diagnosis / Q000235:genetics / Q000276:immunology / Q000401:mortality; D005260:Female; D005808:Genes, Recessive; D005838:Genotype; D005923:Glomerulosclerosis, Focal Segmental / Q000175:diagnosis / Q000235:genetics / Q000276:immunology / Q000401:mortality; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000175:diagnosis* / Q000235:genetics / Q000276:immunology / Q000401:mortality; D007738:Kyphosis / Q000175:diagnosis / Q000235:genetics / Q000276:immunology / Q000401:mortality; D008231:Lymphopenia / Q000175:diagnosis* / Q000235:genetics / Q000276:immunology / Q000401:mortality; D008297:Male; D009404:Nephrotic Syndrome / Q000175:diagnosis / Q000235:genetics / Q000276:immunology / Q000401:mortality; D010009:Osteochondrodysplasias / Q000175:diagnosis* / Q000235:genetics / Q000276:immunology / Q000401:mortality; D010641:Phenotype; D011379:Prognosis; D012600:Scoliosis / Q000175:diagnosis / Q000235:genetics / Q000276:immunology / Q000401:mortality; D013601:T-Lymphocytes / Q000276:immunology*
chemical_list: C412482:SMARCAL1 protein, human; D004265:DNA Helicases