2014
DOI: 10.1136/bcr-2013-202875
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The importance of genetic mutation screening to determine retransplantation following failed kidney allograft from recurrent atypical haemolytic ureamic syndrome

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 retransp… Show more

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Cited by 5 publications
(4 citation statements)
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“…25 And like other retrospective studies we had no information about whether the TMA was systemic or localized 6, 26 which has implication in determining the short term survival, but long term survival is similar in both forms 27,28 Another limitation regarding the recurrent TMA cases, performing genetic testing at time of diagnosis of TMA would be fundamental for assessing the possible outcome. 29 Genetic testing also has therapeutic benefit because unlike de novo TMA which has limited treatment options, recurrent TMA has an effective therapy by blockade of c5-9 through Eculizumab. 30 Still this study is considered the first study in Kurdistan region to shed the light on the topic of TMA after kidney transplantation and describe clinical and pathological features of biopsy proven TMA…”
Section: Resultsmentioning
confidence: 99%
“…25 And like other retrospective studies we had no information about whether the TMA was systemic or localized 6, 26 which has implication in determining the short term survival, but long term survival is similar in both forms 27,28 Another limitation regarding the recurrent TMA cases, performing genetic testing at time of diagnosis of TMA would be fundamental for assessing the possible outcome. 29 Genetic testing also has therapeutic benefit because unlike de novo TMA which has limited treatment options, recurrent TMA has an effective therapy by blockade of c5-9 through Eculizumab. 30 Still this study is considered the first study in Kurdistan region to shed the light on the topic of TMA after kidney transplantation and describe clinical and pathological features of biopsy proven TMA…”
Section: Resultsmentioning
confidence: 99%
“…In the case of aHUS, less aggressive genotype mutations may be amenable to retransplantation with a low risk of recurrence. 68 The availability of terminal complement pathway inhibiting drugs has considerably improved access to retransplantation in those with aHUS from genetic mutations. 66,69,70 The FSGS recurrence rate varies widely (8%-86%).…”
Section: Retransplantation After Primary Disease Recurrencementioning
confidence: 99%
“…Not all of the genetic mutations share the same magnitude of risk on allograft survival. Despite the fact that genetic screening is difficult and complex and the spectrum of gene mutation is a continuously expanding field[ 102 ], performing such studies is fundamental to determining the possible outcome of the kidney transplant in the set of aHUS recurrence[ 128 ].…”
Section: Pathophysiology Of Tma Recurrencementioning
confidence: 99%