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- Title
Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome.
- Authors
Heeringa, Saskia F.; Vlangos, Christopher N.; Chernin, Gil; Hinkes, Bernward; Gbadegesin, Rasheed; Liu, Jinhong; Hoskins, Bethan E.; Ozaltin, Fatih; Hildebrandt, Friedhelm
- Abstract
Background. Congenital nephrotic syndrome (CNS) is de- fined 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.
- Subjects
GENETIC mutation; NEPHROTIC syndrome in children; KIDNEY diseases; GENETIC disorders; SYNDROMES
- Publication
Nephrology Dialysis Transplantation, 2008, Vol 23, Issue 11, p3527
- ISSN
0931-0509
- Publication type
Article
- DOI
10.1093/ndt/gfn271