Abstract:

To improve the knowledge of Schimke immuno-osseous dysplasia （SIOD）， two patients were reported. Methods　In Aug. and

Dec. 2008，the clinical characteristics and laboratory investigations of the 2 patients in Captial institute of pediatrics were summarized，

and the relevant literature about SIOD was reviewed. Results　The two patients presented with steroid-resistant nephrotic syndrome （FSGS），

spondylo-epiphyseal dysplasia， T-cell deficiency， and an unusual facies. The diagnosis of the 2 patients was SIOD. Conclusion　SIOD should

be suspected if the patients present with steroid-resistant nephrotic syndrome combined with facial dysmorphisms， short stature and

lymphopenia.

Key words: nephrotic syndrome, steroid resistance, spondylo-epiphyseal dysplasia, immunodeficiency

摘要：

报道2例Schimke免疫-骨发育不良（Schimke immuno-osseous dysplasia，SIOD）患儿，以提高对该病的认识。方法　收集2008年8～12月就诊于首都儿科研究所附属儿童医院的2例患儿临床资料，并复习文献总结其临床特点、发病机制及预后。结果　2例患儿均表现为激素耐药肾病综合征，病理表现为局灶节段性肾小球硬化（FSGS），脊柱骨骺发育不良，T细胞免疫缺陷及特殊面容，符合典型SIOD诊断。结论　对于激素耐药肾病综合征患者，如伴有特殊面容、身材矮小、T细胞免疫缺陷等其他系统异常应该考虑到SIOD的可能性，以尽早诊断，避免过度治疗。

关键词: 肾病综合征, 激素耐药, 脊柱骨骺发育不良, 免疫缺陷