APRT) deficiency is an uncommon genetic cause ofchronic kidney disease due to crystalline nephropathy.Methods: A case of a Chinese boy with APRT defi ciencypresenting with severe acute kidney injury secondaryto obstru...APRT) deficiency is an uncommon genetic cause ofchronic kidney disease due to crystalline nephropathy.Methods: A case of a Chinese boy with APRT defi ciencypresenting with severe acute kidney injury secondaryto obstructive uropathy from multiple renal calculi wasreviewed.Results: The patient underwent staged removal of thecalculi. Infrared spectrometry of the renal calculi showed2,8-dihydroxyadenine. APRT deficiency was confirmedwith abolished APRT enzyme activity in red blood cells.He was started on allopurinol and low purine diet withcomplete resolution of the residual calculi.Conclusion: APRT defi ciency should be considered inpatients with multiple radiolucent renal calculi.展开更多
文摘APRT) deficiency is an uncommon genetic cause ofchronic kidney disease due to crystalline nephropathy.Methods: A case of a Chinese boy with APRT defi ciencypresenting with severe acute kidney injury secondaryto obstructive uropathy from multiple renal calculi wasreviewed.Results: The patient underwent staged removal of thecalculi. Infrared spectrometry of the renal calculi showed2,8-dihydroxyadenine. APRT deficiency was confirmedwith abolished APRT enzyme activity in red blood cells.He was started on allopurinol and low purine diet withcomplete resolution of the residual calculi.Conclusion: APRT defi ciency should be considered inpatients with multiple radiolucent renal calculi.
