2, 8-dihydroxyadenine urolithiasis: Report of a case first diagnosed after renal transplant

Daniel Glicklich; Harry E. Gruber; Arthur J. Matast; Vivian A. Tellist; Gattu Karwat; Kim Finley; Carol Salem; Robert Soberman; J. Edwin Seegmiller

doi:10.1093/oxfordjournals.qjmed.a068245

2, 8-dihydroxyadenine urolithiasis: Report of a case first diagnosed after renal transplant

Daniel Glicklich, Harry E. Gruber, Arthur J. Matast, Vivian A. Tellist, Gattu Karwat, Kim Finley, Carol Salem, Robert Soberman, J. Edwin Seegmiller

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Abstract

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.

Original language	English (US)
Pages (from-to)	785-793
Number of pages	9
Journal	QJM
Volume	69
Issue number	1
DOIs	https://doi.org/10.1093/oxfordjournals.qjmed.a068245
State	Published - Oct 1988

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General Medicine

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title = "2, 8-dihydroxyadenine urolithiasis: Report of a case first diagnosed after renal transplant",

abstract = "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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AU - Matast, Arthur J.

AU - Tellist, Vivian A.

AU - Karwat, Gattu

AU - Finley, Kim

AU - Salem, Carol

AU - Soberman, Robert

AU - Seegmiller, J. Edwin

PY - 1988/10

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AB - 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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2, 8-dihydroxyadenine urolithiasis: Report of a case first diagnosed after renal transplant

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