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

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.

Keywords

• schimke immuno-osseous dysplasia
• nephrotic syndrome
• immunodeficiency