目的 总结Schimke免疫-骨发育不良(SIOD)5例患儿的临床特征，分析SMARCAL1基因变异情况，增加对SIOD的认识及了解基因诊断的意义。方法 收集2016至2024年于肾内科就诊的5例SIOD患儿的临床资料及基因检测结果。结果 例1、例2、例3分别于随访1年、1年3个月、8个月时死亡；例4随访9个月尿蛋白进行性增多，但肾功能正常；例5随访9年，于18岁时出现双髋关节脱位、行髋关节置换手术，目前19岁余，身材矮小、尿蛋白无明显增多、肾功能正常。均进行SMARCAL1基因检测，例1未发现致病变异，例2为c.1334+1G>A、c.1335-2A>C复合杂合剪接变异，例3为c.2425G>A（p.G809R）纯合错义变异，例4为c.1071delT（p.F357LfsTer26）纯合移码变异，例5为c.445C>T（p.Q149X）、c.1933C>T（p.R645C）复合杂合变异。其中c.1334+1G>A、c.2425G>A、c.445C>T、c.1933C>T为已知变异，c.1335-2A>C、c.1071delT为未报道的变异。结论 SIOD患儿临床特征典型，但严重程度各异，基因型与表型严重程度关联尚不明确。及时诊断SIOD可避免激素和免疫抑制剂等的使用，其治疗以对症治疗为主，总体预后不佳。

Objective To summarize the clinical characteristics of five children with Schimke immunoosseous dysplasia (SIOD) and analyze the variants in the SMARCAL1 gene, aiming to enhance the understanding of SIOD and underscore the significance of genetic diagnosis. Methods Clinical data and genetic testing results were retrospectively collected from five SIOD patients who presented to the Nephrology Department between 2016 and 2024. Results Patients 1, 2, and 3 died after 1 year, 1 year and 3 months, and 8 months of follow-up, respectively. Patient 4 exhibited progressive proteinuria during 9 months of follow-up but maintained normal renal function. Patient 5 was followed for 9 years; bilateral hip dislocation occurred at the age of 18, for which hip replacement surgery was performed. At 19 years of age, he presented with short stature, stable urinary protein levels, and preserved renal function. All patients underwent sequencing of the SMARCAL1 gene. No pathogenic variant was identified in patient 1. Patient 2 was compound heterozygous for the splice variants c.1334+1G>A and c.1335-2A>C. Patient 3 was homozygous for the missense variant c.2425G>A (p.G809R). Patient 4 was homozygous for the frameshift variant c.1071delT (p.F357LfsTer26). Patient 5 was compound heterozygous for the variants c.445C>T (p.Q149X) and c.1933C>T (p.R645C). Among these, c.1334+1G>A, c.2425G>A, c.445C>T, and c.1933C>T are known pathogenic or likely pathogenic variants, while c.1335-2A>C and c.1071delT represent novel variants not previously reported in the literature. Conclusions SIOD presents with characteristic multisystem clinical features, yet exhibits marked phenotypic variability. The genotype-phenotype correlation remains poorly defined. Early diagnosis enables avoidance of unnecessary immunosuppressive therapies, including corticosteroids, and supports timely symptomatic management. Despite advances in supportive care, the overall prognosis remains poor.