摘要
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 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.
出处
《中国实用儿科杂志》
CSCD
北大核心
2010年第1期49-51,共3页
Chinese Journal of Practical Pediatrics
关键词
肾病综合征
激素耐药
脊柱骨骺发育不良
免疫缺陷
nephrotic syndrome
steroid resistance
spondylo-epiphyseal dysplasia
immunodeficiency
