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目的报道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。
Objective To report two cases of Schimke immuno-osseous dysplasia (SIOD) in order to improve the understanding of the disease. Methods The clinical data of 2 children admitted to Children’s Hospital affiliated to Capital Institute of Pediatrics from August to December 2008 were collected and their clinical features, pathogenesis and prognosis were reviewed. Results Both of the two cases showed steroid-resistant nephrotic syndrome. The pathological findings were focal segmental glomerulosclerosis (FSGS), spine epiphyseal dysplasia, T-cell immunodeficiency and special facial features, which were in accordance with typical SIOD diagnosis. Conclusion For patients with steroid resistant nephrotic syndrome, such as with special face, short stature, T cell immune deficiency and other system abnormalities should take into account the possibility of SIOD to early diagnosis and avoid over-treatment.