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., ...Daha Fazla

PEDIATRIC NEPHROLOGY, cilt.30, sa.8, ss.1279-1287, 2015 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 30 Sayı: 8
  • Basım Tarihi: 2015
  • Doi Numarası: 10.1007/s00467-015-3058-x
  • Dergi Adı: PEDIATRIC NEPHROLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.1279-1287
  • Anahtar Kelimeler: 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 Üniversitesi Adresli: Evet

Özet

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.