Two cases report of Schimke immuno-osseous dysplasia
LI Jian-guo
JI Li-na
CHEN Da-kun
CAO Li
YANG Ji-yun
LIU Jing-cheng
Abstract：Objecfive 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.
Keywords：nephrotie syndromesteroid resistancespondylo-epiphyseal dysplasiaimmunodeficiency
Publication Date：2010-01-01
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：3( 49-51 )