NPHS2 p.V290M mutation in late-onset steroid-resistant nephrotic syndrome

Andrea Kerti, Rózsa Csohány, Attila Szabó, Ottó Árkossy, P. Sallay, Vincent Moriniére, Virginia Vega-Warner, Gábor Nyíro, Orsolya Lakatos, Tamás Szabó, Beata S. Lipska, Franz Schaefer, Corinne Antignac, G. Reusz, T. Tulassay, K. Tory

Research output: Contribution to journalArticle

15 Citations (Scopus)

Abstract

Background: The most frequently mutated gene of steroid-resistant nephrotic syndrome (SRNS) is NPHS2. Current guidelines propose the sequencing of all NPHS2 exons only in childhood-onset SRNS. Methods: A cohort of 38 Hungarian patients with childhood-onset nephrotic-range proteinuria was screened for NPHS2 mutations. The frequency of the p.V290M mutation in late-onset SRNS was examined in the French and PodoNet cohorts. Results: Of the 38 Hungarian patients screened, seven carried NPHS2 mutations on both alleles, of whom two - diagnosed with proteinuria through school screening programs at the age of 9.7 and 14 years, respectively - did not develop nephrotic syndrome in childhood. The first, an 18-year-old boy, homozygous for p.V290M, has never developed edema. The second, a 31-year-old woman - compound heterozygous for p.V290M and p.R138Q - was first detected with hypoalbuminemia (

Original languageEnglish
Pages (from-to)751-757
Number of pages7
JournalPediatric Nephrology
Volume28
Issue number5
DOIs
Publication statusPublished - May 2013

Fingerprint

Nephrotic Syndrome
Steroids
Mutation
Proteinuria
Hypoalbuminemia
Exons
Edema
Alleles
Guidelines
Genes

Keywords

  • Algorithm
  • Genetics
  • Mutation screening
  • Nephrotic syndrome
  • NPHS2
  • Podocin

ASJC Scopus subject areas

  • Nephrology
  • Pediatrics, Perinatology, and Child Health

Cite this

NPHS2 p.V290M mutation in late-onset steroid-resistant nephrotic syndrome. / Kerti, Andrea; Csohány, Rózsa; Szabó, Attila; Árkossy, Ottó; Sallay, P.; Moriniére, Vincent; Vega-Warner, Virginia; Nyíro, Gábor; Lakatos, Orsolya; Szabó, Tamás; Lipska, Beata S.; Schaefer, Franz; Antignac, Corinne; Reusz, G.; Tulassay, T.; Tory, K.

In: Pediatric Nephrology, Vol. 28, No. 5, 05.2013, p. 751-757.

Research output: Contribution to journalArticle

Kerti, A, Csohány, R, Szabó, A, Árkossy, O, Sallay, P, Moriniére, V, Vega-Warner, V, Nyíro, G, Lakatos, O, Szabó, T, Lipska, BS, Schaefer, F, Antignac, C, Reusz, G, Tulassay, T & Tory, K 2013, 'NPHS2 p.V290M mutation in late-onset steroid-resistant nephrotic syndrome', Pediatric Nephrology, vol. 28, no. 5, pp. 751-757. https://doi.org/10.1007/s00467-012-2379-2
Kerti, Andrea ; Csohány, Rózsa ; Szabó, Attila ; Árkossy, Ottó ; Sallay, P. ; Moriniére, Vincent ; Vega-Warner, Virginia ; Nyíro, Gábor ; Lakatos, Orsolya ; Szabó, Tamás ; Lipska, Beata S. ; Schaefer, Franz ; Antignac, Corinne ; Reusz, G. ; Tulassay, T. ; Tory, K. / NPHS2 p.V290M mutation in late-onset steroid-resistant nephrotic syndrome. In: Pediatric Nephrology. 2013 ; Vol. 28, No. 5. pp. 751-757.
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