Genetic abnormalities and prognosis in patients with congenital and infantile nephrotic syndrome

Cil O., Besbas N., DÜZOVA A., TOPALOĞLU R., PECO-ANTIC A., KORKMAZ E., ...More

PEDIATRIC NEPHROLOGY, vol.30, no.8, pp.1279-1287, 2015 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 30 Issue: 8
  • Publication Date: 2015
  • Doi Number: 10.1007/s00467-015-3058-x
  • Journal Name: PEDIATRIC NEPHROLOGY
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.1279-1287
  • Keywords: Congenital nephrotic syndrome, Infantile nephrotic syndrome, NPHS1, NPHS2, WT1, LAMB2, DENYS-DRASH SYNDROME, FINNISH TYPE, SEGMENTAL GLOMERULOSCLEROSIS, GLOMERULAR PROTEIN, PODOCIN MUTATIONS, NPHS2 MUTATIONS, WT1, NEPHRIN, CHILDREN, MANAGEMENT
  • Hacettepe University Affiliated: Yes

Abstract

Congenital nephrotic syndrome (CNS) and infantile nephrotic syndrome (INS) are caused primarily by mutations in genes that encode structural and regulatory proteins of the glomerular filtration barrier. The aim of this study was to determine genotype-phenotype correlations and prognosis in patients with CNS and INS.