Literature DB >> 8023815

Chronic renal failure secondary to 2,8-dihydroxyadenine deposition: the first report of recurrence in a kidney transplant.

E R Gagné1, E Deland, M Daudon, L H Noël, T Nawar.   

Abstract

We report a case of adenine phosphoribosyltransferase deficiency in which the initial presentation was chronic renal failure. Diagnosis was made after infrared microscopy analysis of microcrystalline deposits on a kidney allograft biopsy specimen. This type of presentation is rarely seen, the most frequent manifestation of this disease being urolithiasis. This is the first report of recurrence of the microcrystalline nephritis in a kidney transplant with subsequent loss of allograft function.

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Year:  1994        PMID： 8023815     DOI： 10.1016/s0272-6386(12)80168-5

Source DB:  PubMed          Journal:  Am J Kidney Dis        ISSN： 0272-6386            Impact factor:   8.860


  14 in total

1.  A rare case of primary non-function of renal allograft due to adenine phosphoribosyltransferase deficiency.

Authors:  Benoit Brilland; Jean-François Augusto; Anne Croue; Jean-François Subra; Johnny Sayegh
Journal:  Int Urol Nephrol       Date:  2015-08-09       Impact factor: 2.370

Review 2.  Congenital/inherited kidney diseases: how to identify them early and how to manage them.

Authors:  Jean-Pierre Grünfeld
Journal:  Clin Exp Nephrol       Date:  2005-09       Impact factor: 2.801

3.  Adenine phosphoribosyltransferase deficiency in children.

Authors:  Jérôme Harambat; Guillaume Bollée; Michel Daudon; Irène Ceballos-Picot; Albert Bensman
Journal:  Pediatr Nephrol       Date:  2012-01-03       Impact factor: 3.714

4.  Phenotype and genotype characterization of adenine phosphoribosyltransferase deficiency.

Authors:  Guillaume Bollée; Cécile Dollinger; Lucile Boutaud; Delphine Guillemot; Albert Bensman; Jérôme Harambat; Patrice Deteix; Michel Daudon; Bertrand Knebelmann; Irène Ceballos-Picot
Journal:  J Am Soc Nephrol       Date:  2010-02-11       Impact factor: 10.121

5.  Crystalline Nephropathy due to APRT Deficiency: A Preventable Cause of Renal and Renal Allograft Failure.

Authors:  Prashant Rajput; Zaheer A Virani; Bharat V Shah
Journal:  Indian J Nephrol       Date:  2020-04-01

6.  Recurrence rates of urinary calculi according to stone composition and morphology.

Authors:  Michel Daudon; Paul Jungers; Dominique Bazin; James C Williams
Journal:  Urolithiasis       Date:  2018-02-01       Impact factor: 3.436

Review 7.  Primary disease recurrence—effects on paediatric renal transplantation outcomes.

Authors:  Justine Bacchetta; Pierre Cochat
Journal:  Nat Rev Nephrol       Date:  2015-04-28       Impact factor: 28.314

8.  Recurrent 2,8-dihydroxyadenine nephropathy: a rare but preventable cause of renal allograft failure.

Authors:  M Zaidan; R Palsson; E Merieau; E Cornec-Le Gall; A Garstka; U Maggiore; P Deteix; M Battista; E-R Gagné; I Ceballos-Picot; J-P Duong Van Huyen; C Legendre; M Daudon; V O Edvardsson; B Knebelmann
Journal:  Am J Transplant       Date:  2014-10-10       Impact factor: 8.086

9.  Adenine phosphoribosyltransferase (APRT) deficiency: a new genetic mutation with early recurrent renal stone disease in kidney transplantation.

Authors:  Vanna Micheli; Fabio Massarino; Gabriella Jacomelli; Matteo Bertelli; Maria Rita Corradi; Andrea Guerrini; Antonino Cucchiara; Jean Louis Ravetti; Laura Negretti; Giuseppe Cannella
Journal:  NDT Plus       Date:  2010-06-02

10.  Kidney Transplant Outcomes in Patients With Adenine Phosphoribosyltransferase Deficiency.

Authors:  Hrafnhildur Linnet Runolfsdottir; Runolfur Palsson; Inger M Sch Agustsdottir; Olafur S Indridason; Jennifer Li; Myriam Dao; Bertrand Knebelmann; Dawn S Milliner; Vidar O Edvardsson
Journal:  Transplantation       Date:  2020-10       Impact factor: 5.385
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