Back to Search
Start Over
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.
- Source :
-
NDT Plus . Oct2008, Vol. 1 Issue 5, p292-295. 4p. 2 Diagrams, 1 Chart. - Publication Year :
- 2008
-
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. [ABSTRACT FROM PUBLISHER]
Details
- Language :
- English
- ISSN :
- 17530784
- Volume :
- 1
- Issue :
- 5
- Database :
- Academic Search Index
- Journal :
- NDT Plus
- Publication Type :
- Academic Journal
- Accession number :
- 44438081
- Full Text :
- https://doi.org/10.1093/ndtplus/sfn072