Crystalline nephropathy due to adenine phosphoribosyl transferase deficiency as a cause of renal allograft dysfunction

A 22-year-old male born of non-consanguineous marriage, End stage renal failure on dialysis presented with the history Key messageAPRT defi ciency is a rare but under recognized genetic disease.Recurrent urolithiasis and DHA nephropathy are the two clinical manifestations of APRT defi ciency and diagnosis can be made at any age and recurs after renal transplant.Allopurinol is the cornerstone in preventing recurrence.APRT activity assay and genetic testing are useful for confi rmation of diagnosis, for family screening and in diffi cult cases of urolithias or crystalline nephropathy.