Early and unusual presentation of type I primary hyperoxaluria

Oxalosis, the systemic deposition of calcium oxalate crystals, may occur in several hyperoxaluric states due to increased production or absorption of oxalate. Type I primary hyperoxaluria (PH I) is a rare autosomal recessive disease caused by deficiency of the peroxisomal enzyme alanine:glyoxylate aminotransferase. Most patients with this disorder are noticed in mid-childhood or even later due to symptoms related to urinary stone disease. In this paper, we report a patient with PH I with a rapid downhill progression to renal failure and death. Oxalosis was detected by renal biopsy, and the diagnosis of PH I was confirmed by increased urinary oxalate and glycolate levels.