Adenine phosphoribosyltransferase (APRT) deficiency is an uncommon genetic cause of chronic kidney disease due to crystalline nephropathy.
A case of a Chinese boy with APRT deficiency presenting with severe acute kidney injury secondary to obstructive uropathy from multiple renal calculi was reviewed.
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.
APRT deficiency should be considered in patients with multiple radiolucent renal calculi.
World journal of pediatrics : WJP. 2015 Dec 18 [Epub ahead of print]
Siew Le Chong, Yong Hong Ng
Department of Pediatrics (Nephrology Service), KK Women's and Children's Hospital, Singapore, Singapore. , Department of Pediatrics (Nephrology Service), KK Women's and Children's Hospital, Singapore, Singapore.