RT Journal Article
SR Electronic
T1 Schimke immuno-osseous dysplasia
JF Saudi Medical Journal
JO Saudi Med J
FD Prince Sultan Military Medical City
SP 457
OP 460
VO 28
IS 3
A1 Basiratnia, Mitra
A1 Fallahzadeh, Mohammad H.
YR 2007
UL http://smj.org.sa/content/28/3/457.abstract
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.