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Case Reports
. 2007 Mar;28(3):457-60.

Schimke immuno-osseous dysplasia

Mitra Basiratnia  1 , Mohammad H Fallahzadeh
Affiliations
  • PMID: 17334480
Case Reports

Schimke immuno-osseous dysplasia

Mitra Basiratnia et al. Saudi Med J. 2007 Mar.

Erratum in

  • Saudi Med J. 2007 Jun;28(6):988

Abstract

Schimke immuno-osseous dysplasia SIOD is a rare autosomal recessive disorder characterized by steroid resistant nephrotic syndrome, immune deficiency, and osseous dysplasia. SW/SNF2 related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 SMARCAL 1 is the gene responsible for SIOD but the underlying pathophysiologic mechanism is unclear, therefore, there is limited therapeutic options. To our best knowledge, less then 50 cases of SIOD have been published and we report 2 more cases with typical clinical and laboratory features from South of Iran. It is emphasized that this disorder should be considered in children with steroid resistant nephrotic syndrome and bone dysplasia.

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