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Mutational analysis of NPHS2 and WT1 in frequently relapsing and steroid-dependent nephrotic syndrome.

Publication ,  Journal Article
Gbadegesin, R; Hinkes, B; Vlangos, C; Mucha, B; Liu, J; Hopcian, J; Hildebrandt, F
Published in: Pediatr Nephrol
April 2007

Idiopathic nephrotic syndrome is a common pediatric kidney disease, 80% of all cases are steroid sensitive (SSNS). A significant proportion of children with SSNS will have a frequently relapsing or steroid-dependent course (FRNS/SDNS) that is associated with significant treatment-related morbidity. Mutations in NPHS2 account for more than 28% of all cases of steroid-resistant nephrotic syndrome (SRNS) and dominant mutations in WT1 for 5%; while mutations are absent from children with uncomplicated SSNS. Since FRNS/SDNS is phenotypically positioned within a spectrum between SSNS and SRNS, we hypothesized that heterozygous mutations of NPHS2 may be causing FRNS/SDNS. Mutational analysis of NPHS2 and WT1 was carried out in a single-center cohort of 20 children with FRNS/SDNS, ten children with uncomplicated SSNS (control), and 22 children with SRNS (control). Renal biopsy findings were available in 15/20 children with FRNS/SDNS and revealed IgM nephropathy, MCNS, and FSGS in six, five, and four children, respectively. Children with FRNS/SDNS were significantly younger at first presentation than those with SSNS and SRNS (median age: 3.0 years in FRNS/SDNS patients, 7.0 years in SSNS patients, and 5.0 in SRNS patients; p < 0.001). No NPHS2 or WT1 mutations were found in patients with FRNS/SDNS and uncomplicated SSNS. The hypothesis that FRNS/SDNS may be associated with heterozygous mutations in NPHS2 or WT1 was not confirmed.

Duke Scholars

Published In

Pediatr Nephrol

DOI

ISSN

0931-041X

Publication Date

April 2007

Volume

22

Issue

4

Start / End Page

509 / 513

Location

Germany

Related Subject Headings

  • WT1 Proteins
  • Urology & Nephrology
  • Steroids
  • Recurrence
  • Polymerase Chain Reaction
  • Nephrotic Syndrome
  • Mutation
  • Membrane Proteins
  • Male
  • Intracellular Signaling Peptides and Proteins
 

Citation

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Gbadegesin, R., Hinkes, B., Vlangos, C., Mucha, B., Liu, J., Hopcian, J., & Hildebrandt, F. (2007). Mutational analysis of NPHS2 and WT1 in frequently relapsing and steroid-dependent nephrotic syndrome. Pediatr Nephrol, 22(4), 509–513. https://doi.org/10.1007/s00467-006-0377-y
Gbadegesin, Rasheed, Bernward Hinkes, Christopher Vlangos, Bettina Mucha, Jinhong Liu, Jeff Hopcian, and Friedhelm Hildebrandt. “Mutational analysis of NPHS2 and WT1 in frequently relapsing and steroid-dependent nephrotic syndrome.Pediatr Nephrol 22, no. 4 (April 2007): 509–13. https://doi.org/10.1007/s00467-006-0377-y.
Gbadegesin R, Hinkes B, Vlangos C, Mucha B, Liu J, Hopcian J, et al. Mutational analysis of NPHS2 and WT1 in frequently relapsing and steroid-dependent nephrotic syndrome. Pediatr Nephrol. 2007 Apr;22(4):509–13.
Gbadegesin, Rasheed, et al. “Mutational analysis of NPHS2 and WT1 in frequently relapsing and steroid-dependent nephrotic syndrome.Pediatr Nephrol, vol. 22, no. 4, Apr. 2007, pp. 509–13. Pubmed, doi:10.1007/s00467-006-0377-y.
Gbadegesin R, Hinkes B, Vlangos C, Mucha B, Liu J, Hopcian J, Hildebrandt F. Mutational analysis of NPHS2 and WT1 in frequently relapsing and steroid-dependent nephrotic syndrome. Pediatr Nephrol. 2007 Apr;22(4):509–513.
Journal cover image

Published In

Pediatr Nephrol

DOI

ISSN

0931-041X

Publication Date

April 2007

Volume

22

Issue

4

Start / End Page

509 / 513

Location

Germany

Related Subject Headings

  • WT1 Proteins
  • Urology & Nephrology
  • Steroids
  • Recurrence
  • Polymerase Chain Reaction
  • Nephrotic Syndrome
  • Mutation
  • Membrane Proteins
  • Male
  • Intracellular Signaling Peptides and Proteins