title: Screening for NPHS2 mutations may help predict FSGS recurrence after transplantation.
abstract: Steroid-resistant focal segmental glomerulosclerosis (FSGS) often recurs after renal transplantation. In this international survey, we sought to identify genotype-phenotype correlations of recurrent FSGS. We surveyed 83 patients with childhood-onset primary FSGS who received at least one renal allograft and analyzed 53 of these patients for NPHS2 mutations. The mean age at diagnosis was 6.7 years, and the mean age at first renal transplantation was 13 years. FSGS recurred in 30 patients (36%) after a median of 13 days (range, 1.5 to 152 days). Twenty-three patients received a second kidney transplant, and FSGS recurred in 11 (48%) after a median of 16 days (range, 2.7 to 66 days). None of the 11 patients with homozygous or compound heterozygous NPHS2 mutations developed recurrent FSGS compared with 45% of patients without mutations. These data suggest that genetic testing for pathogenic mutations may be important for prognosis and treatment of FSGS both before and after transplantation.
authors.affiliation: Universitäts-Kinderklinik Innsbruck, Anichstrasse 35, Innsbruck, Austria. therese.jungraithmayr@uki.at
authors.forename: Therese C
authors.initials: TC
authors.lastname: Jungraithmayr
authors.forename: Katrin
authors.initials: K
authors.lastname: Hofer
authors.forename: Pierre
authors.initials: P
authors.lastname: Cochat
authors.forename: Gil
authors.initials: G
authors.lastname: Chernin
authors.forename: Gerard
authors.initials: G
authors.lastname: Cortina
authors.forename: Sonja
authors.initials: S
authors.lastname: Fargue
authors.forename: Paul
authors.initials: P
authors.lastname: Grimm
authors.forename: Tanja
authors.initials: T
authors.lastname: Knueppel
authors.forename: Andreas
authors.initials: A
authors.lastname: Kowarsch
authors.forename: Thomas
authors.initials: T
authors.lastname: Neuhaus
authors.forename: Philipp
authors.initials: P
authors.lastname: Pagel
authors.forename: Karl P
authors.initials: KP
authors.lastname: Pfeiffer
authors.forename: Franz
authors.initials: F
authors.lastname: Schäfer
authors.forename: Ulf
authors.initials: U
authors.lastname: Schönermarck
authors.forename: Tomas
authors.initials: T
authors.lastname: Seeman
authors.forename: Burkhard
authors.initials: B
authors.lastname: Toenshoff
authors.forename: Stefanie
authors.initials: S
authors.lastname: Weber
authors.forename: Michelle P
authors.initials: MP
authors.lastname: Winn
authors.forename: Johannes
authors.initials: J
authors.lastname: Zschocke
authors.forename: Lothar B
authors.initials: LB
authors.lastname: Zimmerhackl
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D056726:Genetic Association Studies; D005820:Genetic Testing; D005923:Glomerulosclerosis, Focal Segmental / Q000453:epidemiology* / Q000235:genetics / Q000601:surgery*; D006085:Graft Survival; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007223:Infant; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D016030:Kidney Transplantation; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D012008:Recurrence; D012189:Retrospective Studies; D055815:Young Adult
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; D008565:Membrane Proteins; C407223:NPHS2 protein