The infant (a girl aged 6 months) was admitted to the hospital because of oliguria and acute renal dysfunction. The laboratory examination results showed serious metabolic acidosis and increased blood urea nitrogen and serum creatinine levels. The patient continued to be anuric after 10 days of treatment with continuous renal replacement therapy (CRRT). she died a day later. The family history showed that the patient's sister died of acute renal failure 6 months after birth. The genomic sequencing results showed AGXT mutation in the patient and confirmed the diagnosis of primary hyperoxaluria type 1 (PH1). Her parents were heterozygous carriers. PH1 should be considered when the children have abnormal renal function or recurrent renal calculi or have a family history of these symptoms. AGXT gene analysis is an important method for PH1 diagnosis.
患儿，女，6月龄，急性起病，因尿量减少、肾功能异常入院。辅助检查提示严重代谢性酸中毒，血肌酐和尿素氮明显增高。予限制液体、纠正酸中毒、连续床旁血液净化等治疗10d，患儿仍持续无尿，放弃治疗后死亡。患儿姐姐于6月龄死于急性肾功能衰竭。患儿经基因检测证实为丙氨酸乙醛酸氨基转移酶（AGT）编码基因AGXT突变引起的原发性高草酸尿症1型（PH1），其父母为杂合突变携带者。PH1是一种临床罕见疾病，对于肾功能显著异常，或伴反复发作肾结石，以及有类似家族史的患者，应考虑到PH1的可能，AGXT基因分析是PH1诊断的重要手段。