Adenine phosphoribosyltransferase deficiency: Leave no stone unturned

Table 1 Key points about the diagnosis and treatment of adenine phosphoribosyltransferase deficiency

Key points
APRT deficiency is a rare but underrecognized genetic disease
Recurrent urolithiasis and DHA nephropathy are the two clinical manifestations of APRT deficiency and diagnosis can be made at any age
DHA nephropathy can relapse after renal transplantation
In most cases, urine microscopy and stone analysis will lead to diagnosis
APRT activity assay and genetic testing are useful for confirmation of diagnosis, for family screening and in difficult cases of urolithias or crystalline nephropathy
Allopurinol is the cornerstone of preventing recurrence of kidney stones and DHA nephropathy

APRT: Adenine phosphoribosyltransferase; DHA: 2,8-dihydroxyadenine.