目的　探讨葡萄糖磷酸异构酶（GPI）缺乏症的临床特点及致病基因。方法 回顾分析1例GPI缺乏症患儿的 临床资料，并复习相关文献。结果 患儿，男， 4岁3月龄。自出生起反复出现贫血、黄疸，伴有肝脾肿大、膝关节疼痛、大 运动发育落后；葡萄糖-6-磷酸脱氧酶、丙酮酸激酶、血红蛋白电泳、直接抗人球蛋白试验、红细胞脆性试验及骨髓细胞学 检查均未见异常；膝关节磁共振示双膝关节少量积液并滑膜炎。全外显子测序显示患儿GPI基因6号外显子存在纯合错 义变异c.553T>A（F185I），Sanger测序验证分别来自其父母，为未见报道的新发变异。该变异为致病性变异。结论? GPI 缺乏症为罕见的常染色体隐性遗传病，早期行基因检测可协助诊断。

Objective　To explore the clinical characteristics and pathogenic genes of glucose-6-phosphate isomerase (GPI)?deficiency.?Method? The?clinical?data?of?GPI?deficiency?in?a?child?was?retrospectively?analyzed,?and?the?related?literature? was?reviewed.?Results? A?4-year-?and?3-month-old?boy?suffered?from?repeated?anemia?and?jaundice?since?birth,?accompanied? by?hepatosplenomegaly,?knee?joint?pain?and?gross?motor?development?retardation.?No?abnormality?was?found?in?G6PD?enzyme,? pyruvate?kinase,?hemoglobin?electrophoresis,?direct?Coombs?test,?erythrocyte?fragility?and?bone?marrow?cytological?examination.? Knee?joint?MRI?showed?a?small?amount?of?fluid?and?synovitis?in?both?knee?joints.?Whole?exome?sequencing?showed?that?there?was? a?homozygous?missense?mutation,?c.553T>A?(F185I),?in?exon?6?of?the?GPI?gene.?Sanger?sequencing?verified?that?they?were?from? their?parents?and?it?was?a?new?mutation?not?reported?before.?The?mutation?was?pathogenic.?Conclusion? GPI?deficiency?is?a?rare? autosomal?recessive?genetic?disease,?and?early?genetic?testing?can?assist?in?the?diagnosis.