Literature DB >> 24671321

The importance of genetic mutation screening to determine retransplantation following failed kidney allograft from recurrent atypical haemolytic ureamic syndrome.

Samantha Chua1, Germaine Wong, Wai Hon Lim.   

Abstract

We report the case of a patient with familial atypical haemolytic uraemic syndrome (aHUS) who underwent successful retransplantation 30 months following his failed first kidney allograft from recurrent aHUS. He achieved excellent graft function (creatinine 90 μmol/L), with no evidence of disease recurrence on standard maintenance immunosuppression 9 months after his second deceased donor kidney transplantation. Genetic mutation testing was not available prior to first transplant but screening prior to retransplant identified the patient as having a newly discovered mutation, c.T3566A, within exon 23 of the complement factor H (CFH) gene. Currently, public financing and subsidisation for eculizumab, a costly but effect complement (C5) inhibitor for the treatment of aHUS is not available in Australia. The decision for retransplantation must balance between the risk of disease recurrence and greater risk of death on dialysis. The absence of a more severe CFH genotype assisted in the decision for retransplantation and suggests the importance of genetic mutation screening in order to stratify the risk of disease recurrence and graft loss versus the benefit of transplantation.

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Year:  2014        PMID: 24671321      PMCID: PMC3975487          DOI: 10.1136/bcr-2013-202875

Source DB:  PubMed          Journal:  BMJ Case Rep        ISSN: 1757-790X


  22 in total

Review 1.  Liver-kidney transplantation to cure atypical hemolytic uremic syndrome.

Authors:  Jeffrey M Saland; Piero Ruggenenti; Giuseppe Remuzzi
Journal:  J Am Soc Nephrol       Date:  2008-12-17       Impact factor: 10.121

2.  Hemolytic uremic syndrome: a fatal outcome after kidney and liver transplantation performed to correct factor h gene mutation.

Authors:  Giuseppe Remuzzi; Piero Ruggenenti; Michele Colledan; Bruno Gridelli; Alessandro Bertani; Paola Bettinaglio; Sara Bucchioni; Aurelio Sonzogni; Ezio Bonanomi; Valter Sonzogni; Jeffrey L Platt; Norberto Perico; Marina Noris
Journal:  Am J Transplant       Date:  2005-05       Impact factor: 8.086

3.  Favorable long-term outcome after liver-kidney transplant for recurrent hemolytic uremic syndrome associated with a factor H mutation.

Authors:  J M Saland; S H Emre; B L Shneider; C Benchimol; S Ames; J S Bromberg; G Remuzzi; L Strain; T H J Goodship
Journal:  Am J Transplant       Date:  2006-08       Impact factor: 8.086

4.  Haemolytic uraemic syndrome caused by factor H mutation: is single kidney transplantation under intensive plasmatherapy an option?

Authors:  Patricia Hirt-Minkowski; Stefan Schaub; Michael Mayr; Jürg A Schifferli; Michael Dickenmann; Véronique Frémeaux-Bacchi; Jürg Steiger
Journal:  Nephrol Dial Transplant       Date:  2009-07-25       Impact factor: 5.992

5.  Eculizumab, a terminal complement inhibitor, improves anaemia in patients with paroxysmal nocturnal haemoglobinuria.

Authors:  Jörg Schubert; Peter Hillmen; Alexander Röth; Neal S Young; Modupe O Elebute; Jeffrey Szer; Giacomo Gianfaldoni; Gérard Socié; Paul Browne; Robert Geller; Russell P Rother; Petra Muus
Journal:  Br J Haematol       Date:  2008-05-22       Impact factor: 6.998

6.  Successful liver-kidney transplantation in two children with aHUS caused by a mutation in complement factor H.

Authors:  H Jalanko; S Peltonen; A Koskinen; J Puntila; H Isoniemi; C Holmberg; A Pinomäki; E Armstrong; A Koivusalo; E Tukiainen; H Mäkisalo; J Saland; G Remuzzi; S de Cordoba; R Lassila; S Meri; T S Jokiranta
Journal:  Am J Transplant       Date:  2007-10-31       Impact factor: 8.086

7.  Multicenter phase 3 study of the complement inhibitor eculizumab for the treatment of patients with paroxysmal nocturnal hemoglobinuria.

Authors:  Robert A Brodsky; Neal S Young; Elisabetta Antonioli; Antonio M Risitano; Hubert Schrezenmeier; Jörg Schubert; Anna Gaya; Luke Coyle; Carlos de Castro; Chieh-Lin Fu; Jaroslaw P Maciejewski; Monica Bessler; Henk-André Kroon; Russell P Rother; Peter Hillmen
Journal:  Blood       Date:  2007-11-30       Impact factor: 22.113

8.  Successful split liver-kidney transplant for factor H associated hemolytic uremic syndrome.

Authors:  Jeffrey M Saland; Benjamin L Shneider; Jonathan S Bromberg; Patricia A Shi; Stephen C Ward; Margret S Magid; Corinne Benchimol; Mouin G Seikaly; Sukru H Emre; Elena Bresin; Giuseppe Remuzzi
Journal:  Clin J Am Soc Nephrol       Date:  2008-11-12       Impact factor: 8.237

9.  Spontaneous hemolytic uremic syndrome triggered by complement factor H lacking surface recognition domains.

Authors:  Matthew C Pickering; Elena Goicoechea de Jorge; Rubén Martinez-Barricarte; Sergio Recalde; Alfredo Garcia-Layana; Kirsten L Rose; Jill Moss; Mark J Walport; H Terence Cook; Santiago Rodriguez de Córdoba; Marina Botto
Journal:  J Exp Med       Date:  2007-05-21       Impact factor: 14.307

10.  Plasma therapy in atypical haemolytic uremic syndrome: lessons from a family with a factor H mutation.

Authors:  Jean Claude Davin; Lisa Strain; Tim H J Goodship
Journal:  Pediatr Nephrol       Date:  2008-05-16       Impact factor: 3.714

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  2 in total

Review 1.  Complement related kidney diseases: Recurrence after transplantation.

Authors:  Maurizio Salvadori; Elisabetta Bertoni
Journal:  World J Transplant       Date:  2016-12-24

Review 2.  Thrombotic microangiopathy after renal transplantation: Current insights in de novo and recurrent disease.

Authors:  Fedaey Abbas; Mohsen El Kossi; Jon Jin Kim; Ajay Sharma; Ahmed Halawa
Journal:  World J Transplant       Date:  2018-09-10
  2 in total

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