SCHIMKE IMMUNE-OSSEOUS DYSPLASIA: A CASE REPORT
Journal Title: World Journal of Pharmaceutical and Medical Research - Year 2018, Vol 4, Issue 12
Abstract
The Schimke Immuno-Osseous Dysplasia (SIOD) is an autosomal, recessive and multisystem disease which is rarely seen and to which the biallelic mutation causes in the SMARCAL-1 gene. There are spondyloepiphyseal dysplasia, steroid-resistant nephrotic syndrome, progressive renal failure, T cellular immunodeficiency, bone marrow failure and cerebral infarctions between the typical findings in the SIOD. A patient at the age of 29 and taken to our intensive care unit for following-up by the reason of acute kidney failure will be discussed in this case report.
Authors and Affiliations
Dr. Uzm. İrem Akin Şen
Keywords
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