Il peso della non-diagnosi: deficit di adenina fosforibosil transferasi diagnosticato in seguito a nefropatia da cristalli in ricevente di trapianto renale
Restricted accessResearch articleFirst published online July, 2009
Il peso della non-diagnosi: deficit di adenina fosforibosil transferasi diagnosticato in seguito a nefropatia da cristalli in ricevente di trapianto renale
SilvaM., SilvaC.H., IulekJ., ThiemannO.H.Three-dimensional structure of human adenine phosphoribosyltransferase and its relation to DHA-urolithiasis.Biochemistry2004 Jun 22; 43(24): 7663–71.
5.
BouzidiH., LacourB., DaudonM.[2,8-dihydroxyadenine nephrolithiasis: from diagnosis to therapy].Ann Biol Clin (Paris)2007 Nov-Dec; 65(6): 585–92. Review. French.
6.
CochatP., PichaultV., BacchettaJ., DubourgL., SabotJ.F., SabanC., DaudonM., LiutkusA.Nephrolithiasis related to inborn metabolic diseases.Pediatr Nephrol2009 Jan 21. [Epub ahead of print].
7.
EdvardssonV., PalssonR., OlafssonI.. Clinical features and genotype of adenine phosphoribosyltransferase deficiency in Iceland.Am J Kidney Dis2001; 38: 473–80.
8.
KamataniN., TeraiC., KimS.Y., ChenC.L., YamanakaH., HakodaM., TotokawaS., KashiwazakiS.The origin of the most common mutation of adenine phosphoribosyltransferase among Japanese goes back to a prehistoric era.Hum Genet1996; 98(5): 596–600.
9.
GlicklichD., GruberH.E., MatasA.J., TellisV.A., KarwaG., FinleyK., SalemC., SobermanR., SeegmillerJ.E.2,8-dihydroxyadenine urolithiasis: report of a case first diagnosed after renal transplant.Q J Med1988; 68(258): 785–93.
10.
GagnéE.R., DelandE., DaudonM., NoëlL.H., NawarT.Chronic renal failure secondary to 2,8-dihydroxyadenine deposition: the first report of recurrence in a kidney transplant.Am J Kidney Dis1994; 24(1): 104–7.
11.
de JongD.J., AssmannK.J., De AbreuR.A., MonnensL.A., van LiebergenF.J., DijkmanH.B., HuysmansF.T.2,8-Dihydroxyadenine stone formation in a renal transplant recipient due to adenine phosphoribosyltransferase deficiency.J Urol1996; 156(5): 1754–5. No abstract available.
12.
BrownH.A.Recurrence of 2,8-dihydroxyadenine tubulointerstitial lesions in a kidney transplant recipient with a primary presentation of chronic renal failure.Nephrol Dial Transplant1998; 13(4): 998–1000.
CassidyM.J., McCullochT., FairbanksL.D., SimmondsH.A.Diagnosis of adenine phosphoribosyltransferase deficiency as the underlying cause of renal failure in a renal transplant recipient.Nephrol Dial Transplant.2004 Mar; 19(3): 736–8. No abstract available.
15.
EllerP., RosenkranzA.R., MarkW., TheurlI., LauferJ., LhottaK.Four consecutive renal transplantations in a patient with adenine phosphoribosyltransferase deficiency.Clin Nephrol2004; 61(3): 217–21.
16.
WittenF.R., MorganJ.W., FosterJ.G., GlennJ.F.2,8-dihydroxyadenine urolithiasis: review of the literature and report of a case in the United States.J Urol1983; 130(5): 938–42.
17.
ArnadottirM., LaxdalT., HalldorsdottirB.2,8-dihydroxyadeninuria: are there no cases in Scandinavia?1: Scand J Urol Nephrol2005; 39(1): 82–6.
18.
KonishiN., TakeshitaK., YasuiH.[A case of adenine phosphoribosyltransferase (APRT) deficiency discovered by urine examination]Nippon Jinzo Gakkai Shi1994; 36(10): 1191–5.
19.
KitamiK., KinoshitaY., HosakaM.[A case of 2,8-dihydroxyadenine stone with a partial deficiency of adenine phosphoribosyltransferase].Hinyokika Kiyo1990; 36(1): 73–6.
20.
OhneT., FujitoA., KogaK., ImaideY., UchidaM.[2,8-dihydroxyadenine urolithiasis due to partial deficiency of adenine phosphoribosyltransferase: a case report].Hinyokika Kiyo1998; 44(10): 725–8.
VerdescaS., BrambillaC., GarigaliG., CrociM.D., MessaP., FogazziG.B.How a skillful (correction of skilful) and motivated urinary sediment examination can save the kidneys.Nephrol Dial Transplant2007; 22(6): 1778–81.
23.
FogazziG.B., GarigaliG.The clinical art and science of urine microscopy.Curr Opin Nephrol Hypertens2003; 12(6): 625–32. Review.