DOI: 10.34172/jnp.2023.21481 ISSN:

Schimke immuno-osseous dysplasia in a boy with generalized edema; a case report

Paniz Pourpashang, Nasrin Esfandiar, Samaneh Panjeshahi, Samin Sharafian, Seyed Hamidreza Mirbehbahani
  • Nephrology

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.

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