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Background:
Adenine phosphoribosyltransferase (APRT) deficiency is an uncommon genetic cause of chronic kidney disease due to crystalline nephropathy.
Methods:
A case of a Chinese boy with APRT defi ciency presenting with severe acute kidney injury secondary to obstructive uropathy from multiple renal calculi was reviewed.
Results:
The patient underwent staged removal of the calculi. Infrared spectrometry of the renal calculi showed 2,8-dihydroxyadenine. APRT deficiency was confirmed with abolished APRT enzyme activity in red blood cells. He was started on allopurinol and low purine diet with complete resolution of the residual calculi.
Conclusion:
APRT defi ciency should be considered in patients with multiple radiolucent renal calculi.
Key words: 2,8-dihydroxyadenine; acute renal failure; adenine phosphoribosyltransferase defi ciency; urolithiasis
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