title: Is adenine phophorybosiltransferase deficiency a still underdiagnosed cause of urolithiasis and chronic renal failure? A report of two cases in a family with an uncommon novel mutation.
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.
authors.affiliation: Department of Nephrology, Azienda Ospedaliera S. Giovanni-Addolorata, Rome.
authors.forename: Italia
authors.initials: I
authors.lastname: Perruzza
authors.affiliation: Institute of Biochemistry and Clinical Biochemistry , Catholic University of Rome , Rome.
authors.forename: Valentina
authors.initials: V
authors.lastname: Di Pietro
authors.affiliation: Institute of Biochemistry and Clinical Biochemistry , Catholic University of Rome , Rome.
authors.forename: Barbara
authors.initials: B
authors.lastname: Tavazzi
authors.affiliation: Department of Chemical Sciences, Laboratory of Biochemistry , University of Catania , Catania.
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Lazzarino
authors.affiliation: Department of Nephrology, Azienda Ospedaliera S. Giovanni-Addolorata, Rome.
authors.forename: Marco
authors.initials: M
authors.lastname: Gamberini
authors.affiliation: Department of Experimental Medicine and Pathology , University of Rome "La Sapienza" , Rome , Italy.
authors.forename: Paola
authors.initials: P
authors.lastname: Barsotti
authors.affiliation: Department of Chemical Sciences, Laboratory of Biochemistry , University of Catania , Catania.
authors.forename: Angela Maria
authors.initials: AM
authors.lastname: Amorini
authors.affiliation: Institute of Biochemistry and Clinical Biochemistry , Catholic University of Rome , Rome.
authors.forename: Bruno
authors.initials: B
authors.lastname: Giardina
authors.affiliation: Department of Nephrology, Azienda Ospedaliera S. Giovanni-Addolorata, Rome.
authors.forename: Alessandro
authors.initials: A
authors.lastname: Balducci
keywords: 2,8-dihydroxyadenine (2,8-DHA); adenine phosphoribosyltransferase (APRT) deficiency; renal failure; urolithiasis