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01-05-2006 | Original Article

Recurrence of proteinuria following renal transplantation in congenital nephrotic syndrome of the Finnish type

Authors: Tarak Srivastava, Robert E. Garola, Marjo Kestila, Karl Tryggvason, Vesa Ruotsalainen, Mukut Sharma, Virginia J. Savin, Hannu Jalanko, Bradley A. Warady

Published in: Pediatric Nephrology | Issue 5/2006

Abstract

We report a Caucasian boy of Italian descent with congenital nephrotic syndrome of the Finnish type (NPHS1, CNF, MIM 256300) who developed recurrence of proteinuria and hypoalbuminemia on the seventh post-operative day following living related renal transplantation from his paternal aunt. The allograft biopsy was normal except for effacement of podocyte foot processes on electron microscopy. He was treated by the substitution of mycophenolate mofetil with cyclophosphamide for 12 weeks, in addition to cyclosporine, prednisone and daclizumab. His proteinuria resolved quickly following the initiation of cyclophosphamide treatment, and he remains in remission 4 years after receiving his transplant. His native and allograft kidneys were evaluated for nephrin expression by immunohistochemistry, DNA analysis for the NPHS1 mutation, serum for the presence of auto-antibodies to nephrin by both enzyme-linked immunosorbent assay (ELISA) and fetal glomeruli immunofluorescence assay, and serum for glomerular permeability to albumin (P_alb) activity using a functional in vitro assay for P_alb. Nephrin expression was completely absent in the native kidney, while it was decreased in the allograft compared with normal. DNA analysis of the NPHS1 gene revealed mutations 3248G>T and 3250delG in exon 24, causing G1083V and 1084Vfs, respectively, inherited from his father, and 3478C>T in exon 27, that leads to R1160X, inherited from his mother. Serum was negative for auto-antibodies to nephrin. Interestingly, the P_alb activity was increased at the time of recurrence of proteinuria following transplantation (P_alb 0.73±0.10) and remained elevated when retested more than 3 years later (P_alb 0.54±0.09). This is the first report of increased P_alb activity in recurrence of proteinuria following transplantation in NPHS1. We speculate the role of increased P_alb activity in the recurrence of proteinuria following transplantation in NPHS1.

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Title: Recurrence of proteinuria following renal transplantation in congenital nephrotic syndrome of the Finnish type
Authors: Tarak Srivastava
Robert E. Garola
Marjo Kestila
Karl Tryggvason
Vesa Ruotsalainen
Mukut Sharma
Virginia J. Savin
Hannu Jalanko
Bradley A. Warady
Publication date: 01-05-2006
Publisher: Springer Berlin Heidelberg
Published in: Pediatric Nephrology / Issue 5/2006
Print ISSN: 0931-041X
Electronic ISSN: 1432-198X
DOI: https://doi.org/10.1007/s00467-006-0047-0

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Springer Medicine

Recurrence of proteinuria following renal transplantation in congenital nephrotic syndrome of the Finnish type

Abstract

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

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