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Pediatric Nephrology

, Volume 23, Issue 8, pp 1373–1375 | Cite as

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

  • Konstantinos Voskarides
  • Christiana Makariou
  • Gregory Papagregoriou
  • Nicolaos Stergiou
  • Nicoletta Printza
  • Efstathios Alexopoulos
  • Avraam Elia
  • Fotis Papachristou
  • Alkis Pierides
  • Eleni Georgaki
  • Constantinos DeltasEmail author
Letter to the Editors

Sirs,

The idiopathic nephrotic syndrome is a common clinicopathological entity characterized by massive proteinuria, hypoalbuminaemia, hyperlipidaemia, oedema, and various glomerular changes, occurring mainly in children in 15–20% of whom the condition is steroid-resistant. About 85% of patients with steroid-resistant nephrotic syndrome (SRNS) exhibit renal histology of focal segmental glomerulosclerosis (FSGS), and the rest exhibit mesangial proliferative glomerulonephritis (MsPGN) or other rarer histological phenotypes [1]. Mutations in the NPHS2 gene, encoding podocin, which is one of the important proteins of the slit diaphragm, are a frequent cause of sporadic SRNS in children, occurring in 2.8–28% of the cases [2, 3, 4]. Mutations in exons 8 and 9 of the WT1 gene have also been reported (more frequently in girls) with isolated SRNS [5]. Other genes that are responsible have been recently reported, accounting for rare cases of SRNS.

Idiopathic nephrotic syndrome is a frequent...

Keywords

Nephrotic Syndrome Focal Segmental Glomerulosclerosis Idiopathic Nephrotic Syndrome Proliferative Glomerulonephritis Mesangial Proliferative Glomerulonephritis 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Notes

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).

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Copyright information

© IPNA 2008

Authors and Affiliations

  • Konstantinos Voskarides
    • 1
  • Christiana Makariou
    • 1
  • Gregory Papagregoriou
    • 1
  • Nicolaos Stergiou
    • 2
  • Nicoletta Printza
    • 3
  • Efstathios Alexopoulos
    • 4
  • Avraam Elia
    • 5
  • Fotis Papachristou
    • 3
  • Alkis Pierides
    • 6
  • Eleni Georgaki
    • 2
  • Constantinos Deltas
    • 1
    • 7
    Email author
  1. 1.Department of Biological SciencesUniversity of CyprusNicosiaCyprus
  2. 2.Department of Pediatric NephrologyAgia Sophia Children’s HospitalAthensGreece
  3. 3.First Pediatric Clinic, Hippokration HospitalAristotle University of ThessalonikiThessalonikaGreece
  4. 4.Department of NephrologyAristotle University of ThessalonikiThessalonikaGreece
  5. 5.Department of PediatricsArchbishop Makarios III HospitalNicosiaCyprus
  6. 6.Hippokration Private HospitalNicosiaCyprus
  7. 7.The Cyprus Institute of Neurology and GeneticsNicosiaCyprus

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