Adenine phosphoribosyltransferase deficiency as a rare cause of renal allograft dysfunction.
Adenine phosphoribosyltransferase deficiency is a rare autosomal recessive disorder manifesting as urolithiasis or crystalline nephropathy. It leads to the generation of large amounts of poorly soluble 2,8-dihydroxyadenine excreted in urine, yielding kidney injury and in some patients, kidney failure. Early recognition of the disease, institution of xanthine analog therapy to block the formation of 2,8-dihydroxyadenine, high fluid intake, and low purine diet prevent CKD. Because of symptom variability and lack of awareness, however, the diagnosis is sometimes extremely deferred. We describe a patient with adenine phosphoribosyltransferase deficiency who was diagnosed during evaluation of a poorly functioning second kidney allograft. This report highlights the risk of renal allograft loss in patients with undiagnosed adenine phosphoribosyltransferase deficiency and the need for improved early detection of this disease.
Department of Nephrology, and.
Kati
K
Kaartinen
Ulla
U
Hemmilä
Kaija
K
Salmela
Anne
A
Räisänen-Sokolowski
Timo
T
Kouri
Satu
S
Mäkelä
D000225:Adenine / Q000031:analogs & derivatives / Q000378:metabolism; D000228:Adenine Phosphoribosyltransferase / Q000172:deficiency*; D064591:Allografts; D006801:Humans; D007669:Kidney Calculi / Q000601:surgery*; D016030:Kidney Transplantation / Q000009:adverse effects*; D008297:Male; D008661:Metabolism, Inborn Errors / Q000150:complications*; D008875:Middle Aged; D012307:Risk Factors; D052878:Urolithiasis / Q000150:complications*
C002993:2,8-dihydroxyadenine; D000228:Adenine Phosphoribosyltransferase; D000225:Adenine