2,8-Dihydroxyadenine Urolithiasis: Report of a Case First Diagnosed after Renal Transplant
GLICKLICH, DANIEL; GRUBER, HARRY E.; MATAS, ARTHUR J.; TELLIS, VIVIAN A.; KARWA, GATTU; FINLEY, KIM; SALEM, CAROL; SOBERMAN, ROBERT; SEEGMILLER, J. EDWIN; From the Renal Division, Department of MedicineSan Diego, La Jolla California; GRUBER HARRY E.; Department of Medicine, University of California; MATAS ARTHUR J.; Department of Surgery, Montefiore Medical Center of the Albert Einstein College of Medicine; TELLIS VIVIAN A.; Department of Surgery, Montefiore Medical Center of the Albert Einstein College of Medicine; KARWA GATTU; Department of Surgery, Montefiore Medical Center of the Albert Einstein College of Medicine; FINLEY KIM; Department of Medicine, University of California; SALEM CAROL; Department of Medicine, University of California; SEEGMILLER J. EDWIN; Department of Medicine, University of California
Журнал:
QJM: An International Journal of Medicine
Дата:
1988
Аннотация:
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.
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