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World Journal of Pharmaceutical
and Medical Research

An International Peer Reviewed Journal for Pharmaceutical and Medical Research and Technology
An Official Publication of Society for Advance Healthcare Research (Reg. No. : 01/01/01/31674/16)
ISSN 2455-3301
IMPACT FACTOR: 4.639

ICV : 78.6

Abstract

SCHIMKE IMMUNE-OSSEOUS DYSPLASIA: A CASE REPORT

Dr. Uzm. İrem Akin Şen* and Prof. Dr. Hülya Sungurtekin

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.

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