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

Am J Transplant. 2006 Sep;6(9):2208-11. doi: 10.1111/j.1600-6143.2006.01418.x. Epub 2006 Jun 19.

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Female
  • Genotype
  • Glomerulosclerosis, Focal Segmental / genetics*
  • Glomerulosclerosis, Focal Segmental / surgery*
  • Glomerulosclerosis, Focal Segmental / urine
  • Humans
  • Kidney Transplantation / adverse effects*
  • Mutation / genetics*
  • Plasmapheresis
  • Postoperative Complications
  • Proteinuria / etiology*
  • Proteinuria / therapy
  • Recurrence
  • WT1 Proteins / genetics*

Substances

  • WT1 Proteins