Abstract
A 3-month-old female infant was admitted to our hospital because of convulsions and anuria. Routine laboratory investigation showed renal dysfunction, electrolyte abnormalities, and advanced metabolic acidosis, consistent with end-stage renal disease (ESRD). An abdominal computed tomography scan revealed bilateral renal cortex calcification suggestive of primary hyperoxaluria type 1 (PH1). Since she was anuric, blood oxalic acid and glycolic acid levels were measured using gas chromatography/mass spectrometry. Both oxalic acid and glycolic acid were elevated. We detected a homozygous nonsense mutation in the AGXT gene, and diagnosed PH1. When a patient with PH1 develops ESRD, dialysis cannot excrete the oxalic acid produced in the body, resulting in oxalosis. Infantile PH1 has a particularly poor prognosis, and as such, we considered liver transplantation immediately. The facilities capable of performing liver transplantation in Japan are limited, necessitating early referral. At 7 months of age, the patient received a segmental liver transplant from the mother. Although it may be considered difficult to continue peritoneal dialysis (PD) after abdominal surgery, PD has been continued postoperatively in this patient, without complication. This patient will be followed up and will receive renal transplantation therapy.
