2,8-dihydroxyadenine urolithiasis: report of a case first diagnosed after renal transplant.
We report a case of homozygous adenine phosphoribosyl transferase (APRT) deficiency associated with 2,8-dihydroxyadenine stones recurrent in a patient with a renal transplant. The disease was diagnosed 23 years after the initial episode of renal colic. At that time the disease was unknown. Our patient is only the second case of this disorder reported from the United States. Correct diagnosis is important because long-term maintenance with allopurinol and a low purine diet can effectively prevent stone formation and renal failure.
Glicklich
D
D
Department of Medicine, Montefiore Medical Center, Albert Einstein College of Medicine, Bronx, NY 10467.
Gruber
H E
HE
Matas
A J
AJ
Tellis
V A
VA
Karwa
G
G
Finley
K
K
Salem
C
C
Soberman
R
R
Seegmiller
J E
JE
D000225:Adenine / Q000031:analogs & derivatives* / Q000032:analysis; D000228:Adenine Phosphoribosyltransferase / Q000172:deficiency*; D000328:Adult; D005260:Female; D006801:Humans; D007669:Kidney Calculi / Q000032:analysis / Q000201:enzymology / Q000209:etiology*; D007676:Kidney Failure, Chronic / Q000209:etiology; D016030:Kidney Transplantation; D010430:Pentosyltransferases; D012008:Recurrence
C002993:2,8-dihydroxyadenine; D010430:Pentosyltransferases; D000228:Adenine Phosphoribosyltransferase; D000225:Adenine