Paniz Pourpashang, N. Esfandiar, Samaneh Panjeshahi, S. Sharafian, Seyed Hamidreza Mirbehbahani
{"title":"Schimke immuno-osseous dysplasia in a boy with generalized edema; a case report","authors":"Paniz Pourpashang, N. Esfandiar, Samaneh Panjeshahi, S. Sharafian, Seyed Hamidreza Mirbehbahani","doi":"10.34172/jnp.2023.21481","DOIUrl":null,"url":null,"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.","PeriodicalId":16515,"journal":{"name":"Journal of Nephropathology","volume":" ","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2023-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Nephropathology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.34172/jnp.2023.21481","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"Medicine","Score":null,"Total":0}
引用次数: 0
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.
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