Schimke-immunoossäre Dysplasie View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2006-03

AUTHORS

Thomas Lücke, Nele Kanzelmeyer, Doris Franke, Hans Hartmann, Jochen H. H. Ehrich, Anibh M. Das

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. More... »

PAGES

208-211

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s00063-006-1026-8

DOI

http://dx.doi.org/10.1007/s00063-006-1026-8

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1025324506

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/16648978


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