Paniz Pourpashang
1 
, Nasrin Esfandiar
1* , Samaneh Panjeshahi
2 , Samin Sharafian
3, Seyed Hamidreza Mirbehbahani
1 1 Pediatric Nephrology Research Center, Research Institute for Children’s Health, Shahid Beheshti University of Medical Sciences, Tehran, Iran
2 Department of Medical Genetics, Shahid Beheshti University of Medical Sciences, Tehran, Iran
3 Department of Immunology and Allergy, Mofid Children’s Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran
Abstract
Schimke immuno-osseous dysplasia (SIOD) is a rare disease diagnosed by skeletal malformations, steroid-resistant nephrotic syndrome (SRNs), and T-cell immunodeficiency. Proteinuria with focal segmental glomerulosclerosis (FSGS) is the most common renal pathologic finding in SIOD. In this case report, we present an 8-year-old boy with generalized edema, kyphosis, and nephrotic syndrome who was eventually diagnosed with SIOD.
Implication for health policy/practice/research/medical education:
Schimke immuno-osseous dysplasia is rare and manifests as skeletal malformations, SRNS, and T-cell immunodeficiency. The most common renal pathology in SIOD is proteinuria with FSGS.
Please cite this paper as: Pourpashang P, Esfandiar N, Panjeshahi S, Sharafian S, Mirbehbahani SH. Schimke immuno-osseous dysplasia in a boy with generalized edema; a case report. J Nephropathol. 2024;13(4):e21481. DOI: 10.34172/jnp.2023.21481.