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Screening for NPHS2 Mutations May Help Predict FSGS Recurrence after Transplantation
Dr. Therese Jungraithmayr and colleagues in the March issue of the Journal of the American Society of Nephrology (JASN) report the observation that patients with FSGS and a single-nucleotide polymorphism (SNP mutation) in the NPHS2 gene coding for the podocyte protein (podocin) seem somewhat protected from NS and FSGS recurrence after renal transplantation, compared to a recurrence rate of 48% in those without the mutations.
This is of considerable interest as the recurrence rate and graft loss in FSGS recipients of renal allograft is around 30-40%t, with a limited number of known predictors of recurrence. It is clear that those with a recurrence in a first graft are at higher risk of recurrence in the second. Other factors are more controversial; such as young age at time of transplant, a rapid decline in chronic kidney disease (CKD) before transplantation etc.
This finding adds a useful predictor, suggesting that the recipient should be screened for NPHS2 mutations (protective), but also the donor to a mutation positive recipient should also be screened for the mutation. Of note others (Bertelli et al. 2003) found an equal recurrence rate in genetic versus non-genetic FSGS. Clearly, the debate and investigations continue.