Posttransplant recurrence of proteinuria in a case of focal segmental glomerulosclerosis associated with WT1 mutation

G. M. Ghiggeri, F. Aucella, G. Caridi, L. Bisceglia, L. Ghio, M. Gigante, F. Perfumo, M. Carraro, L. Gesualdo

Research output: Contribution to journalArticlepeer-review

Abstract

Posttransplant recurrence of inherited focal segmental glomerulosclerosis (FSGS) is still an enigma owing to the evident paradox of the molecular origin of proteinuria. A young girl with FSGS for WT1 mutation (IVS9 + 4C > T) and Frasier syndrome received a renal transplant at the age of 11 years. After an initial good outcome with recovery of renal function, proteinuria re-appeared after 7 days and steadily increased up to a nephrotic range. Determination of plasma permeability activity showed concomitant high Palb (0.7). At this point, plasmapheresis was started and after nine cycles with 1500 mL exchange and albumin re-infusion, proteinuria decreased to normal range and is still normal after 3 years. This is the first description of posttransplant recurrence of proteinuria in Frasier syndrome that should be included in potential outcome of renal transplant in this category of patients. This observation confirms the concept that recurrence of proteinuria may occur in inherited forms of FSGS so far reported only for patients carrying NPHS2 mutations and reinforces the idea on multifactorial origin of the disease.

Original languageEnglish
Pages (from-to)2208-2211
Number of pages4
JournalAmerican Journal of Transplantation
Volume6
Issue number9
DOIs
Publication statusPublished - Sep 2006

Keywords

  • Frasier syndrome
  • FSGS
  • Posttransplant recurrence
  • Rephrotic syndrome
  • WT1 mutations

ASJC Scopus subject areas

  • Immunology

Fingerprint

Dive into the research topics of 'Posttransplant recurrence of proteinuria in a case of focal segmental glomerulosclerosis associated with WT1 mutation'. Together they form a unique fingerprint.

Cite this