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©2014 Baishideng Publishing Group Inc.
World J Clin Urol. Nov 24, 2014; 3(3): 218-226
Published online Nov 24, 2014. doi: 10.5410/wjcu.v3.i3.218
Published online Nov 24, 2014. doi: 10.5410/wjcu.v3.i3.218
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 |
- Citation: Bollée G, Daudon M, Ceballos-Picot I. Adenine phosphoribosyltransferase deficiency: Leave no stone unturned. World J Clin Urol 2014; 3(3): 218-226
- URL: https://www.wjgnet.com/2219-2816/full/v3/i3/218.htm
- DOI: https://dx.doi.org/10.5410/wjcu.v3.i3.218