title: [Oliguria and acute renal dysfunction in a six-month-old infant].
abstract: 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.
authors.affiliation: Department of ICU, Zhengzhou Children's Hospital, Zhengzhou 450003, China. chengyibing002@163.com.
authors.forename: Ya-Jie
authors.initials: YJ
authors.lastname: Cui
authors.forename: Chun-Lan
authors.initials: CL
authors.lastname: Song
authors.forename: Yi-Bing
authors.initials: YB
authors.lastname: Cheng
mesh_terms: D058186:Acute Kidney Injury / Q000209:etiology*; D005260:Female; D006801:Humans; D006960:Hyperoxaluria, Primary / Q000150:complications*; D007223:Infant; D009154:Mutation; D009846:Oliguria / Q000209:etiology*; D000637:Transaminases / Q000235:genetics
chemical_list: D000637:Transaminases; C019635:Alanine-glyoxylate transaminase