PT  - JOURNAL ARTICLE
AU  - Basiratnia, Mitra
AU  - Fallahzadeh, Mohammad H.
TI  - Schimke immuno-osseous dysplasia
DP  - 2007 Mar 01
TA  - Saudi Medical Journal
PG  - 457--460
VI  - 28
IP  - 3
4099  - http://smj.org.sa/content/28/3/457.short
4100  - http://smj.org.sa/content/28/3/457.full
SO  - Saudi Med J2007 Mar 01; 28
AB  - 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.