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Pediatric Nephrology

, Volume 28, Issue 5, pp 751–757 | Cite as

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

  • Andrea Kerti
  • Rózsa Csohány
  • Attila Szabó
  • Ottó Árkossy
  • Péter Sallay
  • Vincent Moriniére
  • Virginia Vega-Warner
  • Gábor Nyírő
  • Orsolya Lakatos
  • Tamás Szabó
  • Beata S. Lipska
  • Franz Schaefer
  • Corinne Antignac
  • George Reusz
  • Tivadar Tulassay
  • Kálmán ToryEmail author
Original Article

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 (<30 g/l) and edema at the age of 24.3 and 27.5 years, respectively. Both patients currently have a normal glomerular filtration rate. The mutation p.V290M was carried by three of the 38 patients in the Hungarian cohort, by two of the 95 patients with late-onset SRNS in the PodoNet cohort and by none of the 83 patients in the French cohort.

Conclusions

We propose that not only the p.R229Q variant, but also the p.V290M mutation should be screened in Central and Eastern European patients with late-onset SRNS.

Keywords

Genetics Nephrotic syndrome NPHS2 Podocin Mutation screening Algorithm 

Notes

Acknowledgments

This work was supported by Pfizer, TÁMOP-4.2.1/B-09/1/KMR-2010-0001, OTKA 84087/2010, Bólyai János research fellowship of the Hungarian Academy of Sciences and Magyary Zoltán fellowship for KT. The authors thank Mária Bernáth for expert technical assistance.

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Copyright information

© IPNA 2012

Authors and Affiliations

  • Andrea Kerti
    • 1
  • Rózsa Csohány
    • 1
  • Attila Szabó
    • 1
  • Ottó Árkossy
    • 2
  • Péter Sallay
    • 1
  • Vincent Moriniére
    • 3
  • Virginia Vega-Warner
    • 4
  • Gábor Nyírő
    • 5
  • Orsolya Lakatos
    • 6
  • Tamás Szabó
    • 7
  • Beata S. Lipska
    • 8
    • 9
  • Franz Schaefer
    • 9
  • Corinne Antignac
    • 3
  • George Reusz
    • 1
  • Tivadar Tulassay
    • 1
    • 10
  • Kálmán Tory
    • 1
    Email author
  1. 1.First Department of PediatricsSemmelweis University, BudapestBudapestHungary
  2. 2.Nephrology Outpatient Department, FMC Szépvölgyi Dialysis CentreSzent János HospitalBudapestHungary
  3. 3.INSERM U983ParisFrance
  4. 4.Departments of Pediatrics and Human GeneticsUniversity of MichiganAnn ArborUSA
  5. 5.Clinical and Research Center for Molecular NeurologySemmelweis UniversityBudapestHungary
  6. 6.Department of PediatricsUniversity of PécsPécsHungary
  7. 7.Medical and Health Science Center, Pediatric InstituteUniversity of DebrecenDebrecenHungary
  8. 8.Department of Biology and GeneticsMedical University of GdanskGdanskPoland
  9. 9.Division of Pediatric Nephrology, Center for Pediatrics and Adolescent MedicineUniversity of HeidelbergHeidelbergGermany
  10. 10.Research Laboratory for Pediatrics and NephrologyHungarian Academy of Sciences and Semmelweis UniversityBudapestHungary

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