Author/Authors :
Bakr, Ashraf Mansoura University Children’s Hospital - Department of Pediatric Nephrology, Egypt , Eid, Riham Mansoura University Children’s Hospital - Department of Pediatric Nephrology, Egypt , Sarhan, Amr Mansoura University Children’s Hospital - Department of Pediatric Nephrology, Egypt , Hammad, Ayman Mansoura University Children’s Hospital - Department of Pediatric Nephrology, Egypt , El-Refaey, Ahmed Mahmoud Mansoura University Children’s Hospital - Department of Pediatric Nephrology, Egypt , El-Mougy, Atef Mansoura University Children’s Hospital - Department of Pediatric Nephrology, Egypt , Zedan, Mohammed Magdy Mansoura University Children’s Hospital - Department of Pediatric Nephrology, Egypt , ElHusseini, Fatma Mansoura University Children’s Hospital - Department of Pathology, Egypt
Abstract :
Schimke immune-osseous dysplasia (SIOD) is a rare autosomal recessive disorder characterized by spondylo-epiphyseal dysplasia (SED),progressive renal insufficiency beginning as steroid-resistant nephrotic syndrome (SRNS) and defective cellular immunity. This article reports a case from Egypt with a mild form of SIOD. A 14.5-year-old male patient presented with disproportionate short stature,SRNS (focal and segmental glomerulosclerosis),laboratory evidence of cellular immune deficiency and radiologic characteristics of SED. He died at the age of 16.5 years with bone marrow failure and severe pneumonia. To the best of our knowledge,this is the first case of SIOD to be reported from Egypt.
