Schimke immuno-osseous dysplasia.
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.
Basiratnia
Mitra
M
Department of Pediatrics, Nemazee Hospital, University of Medical Sciences, Shiraz, Iran. m_basiratnia@yahoo.com
Fallahzadeh
Mohammad H
MH
D000015:Abnormalities, Multiple / Q000175:diagnosis; D001848:Bone Diseases, Developmental / Q000175:diagnosis* / Q000276:immunology; D018450:Disease Progression; D004351:Drug Resistance; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000175:diagnosis*; D007231:Infant, Newborn; D007492:Iran; D008297:Male; D009404:Nephrotic Syndrome / Q000175:diagnosis* / Q000188:drug therapy; D035583:Rare Diseases; D013256:Steroids / Q000627:therapeutic use; D013577:Syndrome
D013256:Steroids