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J Nephropathol. 2024;13(4): e21481.
doi: 10.34172/jnp.2023.21481
  Abstract View: 732
  PDF Download: 77

Case Report

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

Paniz Pourpashang 1 ORCID logo, Nasrin Esfandiar 1* ORCID logo, Samaneh Panjeshahi 2 ORCID logo, Samin Sharafian 3, Seyed Hamidreza Mirbehbahani 1 ORCID logo

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
*Corresponding Author: Nasrin Esfandiar, Email: nasrinesfandiar@gmail.com

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.

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Submitted: 21 Jun 2023
Accepted: 09 Aug 2023
ePublished: 31 Aug 2023
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