Schimke免疫性骨发育不良男孩全身水肿；病例报告

Q4 Medicine

Journal of Nephropathology Pub Date : 2023-08-31 DOI:10.34172/jnp.2023.21481

Paniz Pourpashang, N. Esfandiar, Samaneh Panjeshahi, S. Sharafian, Seyed Hamidreza Mirbehbahani

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引用次数: 0

摘要

Schimke免疫-骨发育不良(SIOD)是一种由骨骼畸形、类固醇抵抗性肾病综合征(SRNs)和t细胞免疫缺陷诊断的罕见疾病。蛋白尿伴局灶节段性肾小球硬化(FSGS)是SIOD中最常见的肾脏病理表现。在这个病例报告中，我们提出了一个8岁的男孩，患有全身性水肿，后凸和肾病综合征，最终被诊断为SIOD。

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

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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来源期刊

Journal of Nephropathology Medicine-Nephrology

CiteScore

1.30

自引率

0.00%

发文量