目的　探讨ABCG5基因突变所致的植物固醇血症的临床及基因变异特征。方法　回顾分析1例ABCG5基 因突变致植物固醇血症患儿的临床资料。结果　1岁3个月男性幼儿，约4月龄时腕、踝关节皮肤褶皱处开始出现线状黄瘤， 后渐加重。血固醇谱检查示菜油固醇、二氢胆固醇明显升高。全外显子检测示ABCG5基因c.904+1（IVS7）G>A剪切位点 突变和c.-76（exonl）C>T非编码区突变。经严格控制植物固醇摄入、少量限制动物固醇摄入以及口服消胆胺治疗40天后， 复查患儿血固醇谱，植物固醇水平较前明显降低。结论　ABCG5变异可致植物固醇血症，及时诊断以及药物和饮食控制 可改善预后。

Objective　To explore the clinical and gene variation characteristics of phytosterolemia caused by ABCG5 gene mutation. Method　The clinical data of phytosterolemia caused by ABCG5 gene mutation in a child was retrospective analyzed. Results　A boy, aged 1 year and 3months old, began to appear linear xanthan in the skin folds of wrist and ankle joints at about 4 months old, and then gradually aggravated. Serum sterol spectrum revealed that the levels of rapeseed sterol and dihydrocholesterol increased significantly. Whole exon detection of ABCG5 gene showed splice site mutation at c.904+1(IVS7) G>A and non-coding region mutation at c.-76 (exonl) C>T. After strictly limiting plant sterol intake, reducing animal sterol intake and treating with cholestyramine for 40 days, the level of plant sterol was significantly lower than before. Conclusion　ABCG5 mutation can cause phytosterolemia. Timely diagnosis, drug treatment and diet control can improve the prognosis.