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- 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.
- Authors
Perruzza, Italia; Di Pietro, Valentina; Tavazzi, Barbara; Lazzarino, Giuseppe; Gamberini, Marco; Barsotti, Paola; Amorini, Angela Maria; Giardina, Bruno; Balducci, Alessandro
- 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.
- Subjects
VITAMIN B deficiency; CHRONIC kidney failure; URINARY calculi; HEMODIALYSIS; GENETIC carriers
- Publication
NDT Plus, 2008, Vol 1, Issue 5, p292
- ISSN
1753-0784
- Publication type
Article
- DOI
10.1093/ndtplus/sfn072