目的 报道1例中国儿童Schimke免疫-骨发育不良（SIOD）所致的肾损害。 方法 分析患者的临床资料并对肾穿组织进行光镜、电镜及免疫荧光观察，结合文献复习，探讨本病的临床病理特点及诊断思路。 结果 本例临床上以反复发生感染为首发表现，患儿出现明显的生长发育迟缓、脊柱骨骺发育不良，随后出现蛋白尿，渐发展为肾病综合征。肾活检病理显示肾小球呈局灶节段性肾小球硬化。 结论 细胞免疫缺陷、生长发育迟缓、脊柱骨骺发育不良及肾脏损害是SIOD的特征性临床表现，肾脏病理表现为局灶节段性肾小球硬化。

Objective To report a Chinese boy suffering from nephrotic syndrome associated with Schimke immuno-osseous dysplasia（SIOD）. Methods The clnical data and pathological changes of renal biopsy were analyzed and associated literatures were reviewed. The clinicopathological features and diagnosis of SIOD were discussed. Results The first symptom of the patient was recurrent infections. Growth retardation, spondyloepiphyseal dysplasia accompanied by nephrotic syndrome and defective cellular immunity were seen as clinical features in this patient. Renal pathology showed focal segmental glomerulosclerosis. Conclusion Combining the clinical manifestation with renal pathology, the case is diagnosed as Schimke immuno-osseous dysplasia.