Infant primary hyperoxaluria type 1: A case report and literature review

Primary hyperoxaluria (PH) is a rare autosomal recessive disorder, with PH type 1 (PH1) being the most common. It is primarily characterized by recurrent renal calculi, renal calcification, and can lead to acute renal failure. In infants, PH1 often results in early end-stage renal disease (ESRD) with a high mortality rate. This paper reports a case of an infant with acute renal failure in the Second Hospital of Shandong University who was diagnosed as PH1 using whole-exome sequencing, revealing a homozygous mutation in the AGXT gene (c.596-2A>G), which is reported here for the first time in the Chinese population. Previous literature indicates that urinary oxalate levels and stone composition can suggest PH1, with the gold standard for diagnosis being liver biopsy combined with alanine-glyoxylate aminotransferase (AGT) enzyme activity assessment. However, due to its convenience, AGXT gene sequencing has increasingly become the preferred diagnostic method. Conservative treatments for PH1 include adequate fluid intake, citrate, vitamin B6, and continuous renal replacement therapy, while liver transplantation is the only curative treatment. Infants with unexplained acute renal failure should be evaluated for PH1, with early detection of the level of urine oxalate and screening for genetic testing recommended.