Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome

Heeringa S. F. , Vlangos C. N. , Chernin G., Hinkes B., Gbadegesin R., Liu J., ...Daha Fazla

NEPHROLOGY DIALYSIS TRANSPLANTATION, cilt.23, sa.11, ss.3527-3533, 2008 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 23 Konu: 11
  • Basım Tarihi: 2008
  • Doi Numarası: 10.1093/ndt/gfn271
  • Sayfa Sayıları: ss.3527-3533


Background. Congenital nephrotic syndrome (CNS) is defined as nephrotic syndrome that manifests at birth or within the first 3 months of life. Most patients develop end-stage renal disease (ESRD) within 2 to 3 years of life. CNS of the Finnish-type (CNF) features a rather specific renal histology and is caused by recessive mutations in the NPHS1 gene encoding nephrin, a major structural protein of the glomerular slit-diaphragm. So far, more than 80 different mutations of NPHS1 causing CNF have been published.