Aggressive primary hyperoxaluria involving the liver in an adult

摘要

Primary hyperoxaluria is a rare autosomal recessive condition with two forms: type I and type II. Primary hyperoxaluria type I is caused by deficiency of alanine-glyoxylate aminotransferase, whereas primary hyperoxaluria type II is because of the abnormality of glyoxylate reductase activity (1, 2). Primary hyperoxaluria typically manifest in early childhood with recurrent calcium oxa-late nephrolithiasis and renal failure related to obstruction, infection and oxalate deposition within the kidney. In some patients, the disease does not manifest until adult life. We present the first case of massive oxalate deposition in the liver of an adult patient.