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Abstract
We describe two patients that had a history of recurrent renal stones and chronic renal insufficiency. The first case was a 51-year-old man with an adenine phophoribosyltransferase (APRT) deficiency who was diagnosed only after he had been referred for severe renal failure requiring hemodialysis. This led to a screening of the entire family, which identified six carriers and an additional affected relative (a 41-year-old man and the second case reported herein). Genetic analysis of the APRT gene revealed an atypical mutation previously described only once in a compound heterozygote.
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Details
1 Department of Nephrology, Azienda Ospedaliera S. Giovanni-Addolorata, Rome
2 Institute of Biochemistry and Clinical Biochemistry, Catholic University of Rome, Rome
3 Department of Chemical Sciences, Laboratory of Biochemistry, University of Catania, Catania
4 Department of Experimental Medicine and Pathology, University of Rome “La Sapienza”, Rome, Italy