目的　探讨原发性I型高草酸尿症（PH I）的临床特点、诊断及治疗。方法　回顾分析2例PH I患儿的临床表现、 实验室检查结果，并对家系成员进行全外显子测序。结果　2例患儿发病年龄分别为2个月和1岁5个月，均有肾衰竭，伴不 同程度贫血、肾石症等。全外显子测序发现2例患儿分别为AGXT基因c.815_816GA纯合变异及c.25_26 insC、c.815_816 insGA复合杂合变异。确诊为PH I后给予肾脏替代联合对症治疗。结论　PH I无特异性临床表现，部分患儿肾衰竭进展迅速。

Objective　To explore the clinical characteristics, diagnosis, and treatment of primary hyperoxaluria type Ⅰ (PHⅠ). Method　The clinical manifestations and laboratory examination results of PHⅠ in 2 children were retrospectively analyzed, and whole exon sequencing was performed in family members. Results　The ages at onset of the 2 children were 2 months and 1 year and 5 months respectively. Both had renal failure, accompanied by different degrees of anemia and nephrolithiasis. The homozygous variant of c.815_816GA was found in a child and the compound heterozygous variants of c.25_26 insC and c.815_816 insGA were found in another child in AGXT gene by whole exon sequencing. Kidney replacement combined with symptomatic treatment was performed after diagnosis of PHⅠ. Conclusion　PHⅠ has no specific clinical manifestations, and renal failure is developed rapidly in some children.