title: WT-1 and NPHS2 mutation analysis in patients with non-familial steroid-resistant focal-segmental glomerulosclerosis.
abstract: BACKGROUND
  Familial forms of steroid-resistant nephrotic syndrome with the histologic findings of focal-segmental glomerulosclerosis have frequently a genetic basis. For the non-familial forms this is still unresolved.
  
  
  METHODS
  Ten children with non-familial steroid-resistant nephrotic syndrome along with focal-segmental glomerulosclerosis were tested for mutations in the WT-1 and NPHS2 genes.
  
  
  RESULTS
  In 1 patient, a mutation in intron 9 of the WT-1 gene and in 1 patient a heterozygous NPHS2 mutation could be detected. Both abnormalities are important for the treatment modalities and prognosis.
  
  
  CONCLUSIONS
  Additional studies will have to provide a solid basis for the recommendation of mutation analysis in non-familial steroid-resistant focal-segmental glomerulosclerosis.
authors.affiliation: Department of Pediatrics, University Medical Center Nijmegen, Nijmegen, The Netherlands.
authors.forename: M M
authors.initials: MM
authors.lastname: Löwik
authors.forename: E N
authors.initials: EN
authors.lastname: Levtchenko
authors.forename: L A H
authors.initials: LA
authors.lastname: Monnens
authors.forename: L P W J
authors.initials: LP
authors.lastname: van den Heuvel
mesh_terms: D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005260:Female; D005923:Glomerulosclerosis, Focal Segmental / Q000235:genetics; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D007438:Introns; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009404:Nephrotic Syndrome / Q000235:genetics*; D011110:Polymorphism, Genetic; D025721:WT1 Proteins / Q000235:genetics*
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; D008565:Membrane Proteins; C407223:NPHS2 protein; D025721:WT1 Proteins