Skip to main content
SpringerLink
Log in

NPHS2 screening with SURVEYOR in Hellenic children with steroid-resistant nephrotic syndrome

  • Letter to the Editors
  • Published:
Pediatric Nephrology Aims and scope Submit manuscript

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1

References

  1. Fuchshuber A, Gribouval O, Ronner V, Kroiss S, Karle S, Brandis M, Hildebrandt F (2001) Clinical and genetic evaluation of familial steroid-responsive nephrotic syndrome in childhood. J Am Soc Nephrol 12:374–378

    CAS  PubMed  Google Scholar 

  2. Boute N, Gribouval O, Roselli S, Benessy F, Lee H, Fuchshuber A, Dahan K, Gubler MC, Niaudet P, Antignac C (2000) NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome. Nat Genet 24:349–354

    Article  CAS  Google Scholar 

  3. Ruf RG, Lichtenberger A, Karle SM, Haas JP, Anacleto FE, Schultheiss M, Zalewski I, Imm A, Ruf EM, Mucha B, Bagga A, Neuhaus T, Fuchshuber A, Bakkaloglu A, Hildebrandt F, Arbeitsgemeinschaft Für Pädiatrische Nephrologie Study Group (2004) Patients with mutations in NPHS2 (podocin) do not respond to standard steroid treatment of nephrotic syndrome. J Am Soc Nephrol 15:722–732

    Article  Google Scholar 

  4. Ozcakar ZB, Cengiz FB, Cakar N, Uncu N, Kara N, Acar B, Yuksel S, Ekim M, Tekin M, Yalcinkaya F (2006) Analysis of NPHS2 mutations in Turkish steroid-resistant nephrotic syndrome patients. Pediatr Nephrol 21:1093–1096

    Article  Google Scholar 

  5. Mucha B, Ozaltin F, Hinkes BG, Hasselbacher K, Ruf RG, Schultheiss M, Hangan D, Hoskins BE, Everding AS, Bogdanovic R, Seeman T, Hoppe B, Hildebrandt F, Members of the APN Study Group (2006) Mutations in the Wilms’ tumor 1 gene cause isolated steroid resistant nephrotic syndrome and occur in exons 8 and 9. Pediatr Res 59:325–331

    Article  CAS  Google Scholar 

  6. Voskarides K, Damianou L, Neocleous V, Zouvani I, Christodoulidou S, Hadjiconstantinou V, Ioannou K, Athanasiou Y, Patsias C, Alexopoulos E, Pierides A, Kyriakou K, Deltas C (2007) COL4A3/COL4A4 mutations in families with thin basement membrane nephropathy that is associated with focal segmental glomerulosclerosis and chronic or end-stage renal failure. J Am Soc Nephrol 18:3004–3016

    Article  CAS  Google Scholar 

  7. Caridi G, Bertelli R, Carrea A, Di Duca M, Catarsi P, Artero M, Carraro M, Zennaro C, Candiano G, Musante L, Seri M, Ginevri F, Perfumo F, Ghiggeri GM (2001) Prevalence, genetics, and clinical features of patients carrying podocin mutations in steroid-resistant nonfamilial focal segmental glomerulosclerosis. J Am Soc Nephrol 12:2742–2746

    CAS  PubMed  Google Scholar 

  8. Schwarz K, Simons M, Reiser J, Saleem MA, Faul C, Kriz W, Shaw AS, Holzman LB, Mundel P (2001) Podocin, a raft-associated component of the glomerular slit diaphragm, interacts with CD2AP and nephrin. J Clin Invest 108:1621–1629

    Article  CAS  Google Scholar 

  9. Franceschini N, North KE, Kopp JB, McKenzie L, Winkler C (2006) NPHS2 gene, nephrotic syndrome and focal segmental glomerulosclerosis: a HuGE review. Genet Med 8:63–75

    Article  CAS  Google Scholar 

Download references

Acknowledgements

This work was funded mainly through a grant by the Cyprus Research Promotion Foundation, ΕΝΙΣΧ/0505/02, and partly by the Cyprus Ministry of Health, the Cyprus Kidney Association (scholarship to K.V.) and the University of Cyprus (Research Activities 3/312).

Author information

Authors and Affiliations

  1. Department of Biological Sciences, University of Cyprus, Kallipoleos 75, 1678, Nicosia, Cyprus

    Konstantinos Voskarides, Christiana Makariou, Gregory Papagregoriou & Constantinos Deltas

  2. Department of Pediatric Nephrology, Agia Sophia Children’s Hospital, Athens, Greece

    Nicolaos Stergiou & Eleni Georgaki

  3. First Pediatric Clinic, Hippokration Hospital, Aristotle University of Thessaloniki, Thessalonika, Greece

    Nicoletta Printza & Fotis Papachristou

  4. Department of Nephrology, Aristotle University of Thessaloniki, Thessalonika, Greece

    Efstathios Alexopoulos

  5. Department of Pediatrics, Archbishop Makarios III Hospital, Nicosia, Cyprus

    Avraam Elia

  6. Hippokration Private Hospital, Nicosia, Cyprus

    Alkis Pierides

  7. The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus

    Constantinos Deltas

Authors
  1. Konstantinos Voskarides
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Christiana Makariou
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Gregory Papagregoriou
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Nicolaos Stergiou
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Nicoletta Printza
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Efstathios Alexopoulos
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. Avraam Elia
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. Fotis Papachristou
    View author publications

    You can also search for this author in PubMed Google Scholar

  9. Alkis Pierides
    View author publications

    You can also search for this author in PubMed Google Scholar

  10. Eleni Georgaki
    View author publications

    You can also search for this author in PubMed Google Scholar

  11. Constantinos Deltas
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Constantinos Deltas.

Additional information

The authors declare that they have no competing financial interests.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Voskarides, K., Makariou, C., Papagregoriou, G. et al. NPHS2 screening with SURVEYOR in Hellenic children with steroid-resistant nephrotic syndrome. Pediatr Nephrol 23, 1373–1375 (2008). https://doi.org/10.1007/s00467-008-0804-3

Download citation

  • Received:

  • Revised:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00467-008-0804-3

Keywords

Search

Navigation