title: NPHS2 mutations in adult patients with primary focal segmental glomerulosclerosis.
abstract: BACKGROUND
  Mutations in the NPHS2 gene encoding the protein podocin have recently been found in a recessive form of steroid-resistant nephrotic syndrome. Focal segmental glomerulosclerosis (FSGS) was the histologic diagnosis in many of the patients harboring these mutations. FSGS is a heterogeneous glomerular lesion with diverse origins and outcomes. Although mutational analysis in children permits the identification of an unresponsive group before initiating treatment, there is not much information on adult-onset patients with FSGS.
  
  
  METHODS
  We performed NPHS2 gene mutational analysis in 39 adult Brazilian patients with primary FSGS, and evaluated the clinical course of the disease and response to treatment; in addition, we performed urinary screening in 44 relatives of these patients.
  
  
  RESULTS
  In this group, only 1 patient (with familial FSGS) had a mutation in the NPHS2 gene with double heterozygosity. The absence of mutations in all other patients evaluated suggests its rarity in sporadic cases of adult-onset (steroid sensitive or resistant) FSGS in our population.
  
  
  CONCLUSIONS
  Our results suggest that the analysis of the NPHS2 gene mutation is not indicated as a routine diagnostic procedure in our population for adult-onset patients with FSGS.
authors.affiliation: Division of Nephrology, Department of Medicine, Escola Paulista de Medicina-UNIFESP (Federal University of Sao Paulo), Sao Paulo, Brazil.
authors.forename: Eduardo J B
authors.initials: EJ
authors.lastname: Monteiro
authors.forename: Alexandre C
authors.initials: AC
authors.lastname: Pereira
authors.forename: Aparecido B
authors.initials: AB
authors.lastname: Pereira
authors.forename: José E
authors.initials: JE
authors.lastname: Krieger
authors.forename: Gianna
authors.initials: G
authors.lastname: Mastroianni-Kirsztajn
mesh_terms: D000293:Adolescent; D000305:Adrenal Cortex Hormones / Q000627:therapeutic use; D000328:Adult; D001938:Brazil; D004351:Drug Resistance / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D005923:Glomerulosclerosis, Focal Segmental / Q000188:drug therapy / Q000235:genetics*; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*
chemical_list: D000305:Adrenal Cortex Hormones; D047908:Intracellular Signaling Peptides and Proteins; D008565:Membrane Proteins; C407223:NPHS2 protein