Skip to main content
SpringerLink
Log in

Congenital Nephrotic Syndrome

  • Chapter
  • First Online:
Kidney and Urinary Tract Diseases in the Newborn

  • 1388 Accesses

Abstract

Congenital nephrotic syndrome (CNS) is a group of rare conditions that present with high-grade urine protein (albumin) losses, hypoalbuminemia, and edema within the first 3 months of life. It is important to differentiate CNS from other presentations of nephrotic syndrome, mainly the infantile form (4–12 months of age) and childhood nephrotic syndrome (onset after the 1st year of life). Unless treatment is initiated, CNS is universally fatal.

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

Access this chapter

Log in via an institution
Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 119.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 159.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book
USD 159.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

References

  1. Kestila M et al (1998) Positionally cloned gene for a novel glomerular protein–nephrin–is mutated in congenital nephrotic syndrome. Mol Cell 1(4):575–582

    Article  CAS  PubMed  Google Scholar 

  2. Bolk S et al (1999) Elevated frequency and allelic heterogeneity of congenital nephrotic syndrome, Finnish type, in the old order Mennonites. Am J Hum Genet 65(6):1785–1790

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  3. Papez KE, Smoyer WE (2004) Recent advances in congenital nephrotic syndrome. Curr Opin Pediatr 16(2):165–170

    Article  PubMed  Google Scholar 

  4. Tryggvason K, Patrakka J, Wartiovaara J (2006) Hereditary proteinuria syndromes and mechanisms of proteinuria. N Engl J Med 354(13):1387–1401

    Article  CAS  PubMed  Google Scholar 

  5. Jalanko H (2009) Congenital nephrotic syndrome. Pediatr Nephrol 24(11):2121–2128

    Article  PubMed Central  PubMed  Google Scholar 

  6. Khoshnoodi J, Tryggvason K (2001) Congenital nephrotic syndromes. Curr Opin Genet Dev 11(3):322–327

    Article  CAS  PubMed  Google Scholar 

  7. Hinkes BG et al (2007) Nephrotic syndrome in the first year of life: two thirds of cases are caused by mutations in 4 genes (NPHS1, NPHS2, WT1, and LAMB2). Pediatrics 119(4):e907–e919

    Article  PubMed  Google Scholar 

  8. Ahvenainen EK, Hallman N, Hjelt L (1956) Nephrotic syndrome in newborn and young infants. Ann Paediatr Fenn 2(3):227–241

    CAS  PubMed  Google Scholar 

  9. Kestila M et al (1994) Congenital nephrotic syndrome of the Finnish type maps to the long arm of chromosome 19. Am J Hum Genet 54(5):757–764

    PubMed Central  CAS  PubMed  Google Scholar 

  10. Mannikko M et al (1995) Fine mapping and haplotype analysis of the locus for congenital nephrotic syndrome on chromosome 19q13.1. Am J Hum Genet 57(6):1377–1383

    PubMed Central  CAS  PubMed  Google Scholar 

  11. Savage JM et al (1999) Improved prognosis for congenital nephrotic syndrome of the Finnish type in Irish families. Arch Dis Child 80(5):466–469

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  12. Suh JH et al (2011) Forced expression of laminin beta1 in podocytes prevents nephrotic syndrome in mice lacking laminin beta2, a model for Pierson syndrome. Proc Natl Acad Sci USA 108(37):15348–15353

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  13. VanDeVoorde R et al (2006) Pierson syndrome: a novel cause of congenital nephrotic syndrome. Pediatrics 118(2):e501–e505

    Article  PubMed  Google Scholar 

  14. Niaudet P (2004) Genetic forms of nephrotic syndrome. Pediatr Nephrol 19(12):1313–1318

    Article  PubMed  Google Scholar 

  15. Heeringa SF et al (2008) Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome. Nephrol Dial Transplant 23(11):3527–3533

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  16. Huber TB et al (2003) Molecular basis of the functional podocin-nephrin complex: mutations in the NPHS2 gene disrupt nephrin targeting to lipid raft microdomains. Hum Mol Genet 12(24):3397–3405

    Article  CAS  PubMed  Google Scholar 

  17. Schwarz K et al (2001) Podocin, a raft-associated component of the glomerular slit diaphragm, interacts with CD2AP and nephrin. J Clin Invest 108(11):1621–1629

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  18. Denys P et al (1967) Association of an anatomo-pathological syndrome of male pseudohermaphroditism, Wilms’ tumor, parenchymatous nephropathy and XX/XY mosaicism. Arch Fr Pediatr 24(7):729–739

    CAS  PubMed  Google Scholar 

  19. Drash A et al (1970) A syndrome of pseudohermaphroditism, Wilms’ tumor, hypertension, and degenerative renal disease. J Pediatr 76(4):585–593

    Article  CAS  PubMed  Google Scholar 

  20. Pierson M et al (1963) An unusual congenital and familial congenital malformative combination involving the eye and kidney. J Genet Hum 12:184–213

    CAS  PubMed  Google Scholar 

  21. Zenker M et al (2004) Human laminin beta2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities. Hum Mol Genet 13(21):2625–2632

    Article  CAS  PubMed  Google Scholar 

  22. Galloway WH, Mowat AP (1968) Congenital microcephaly with hiatus hernia and nephrotic syndrome in two sibs. J Med Genet 5(4):319–321

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  23. Dreyer SD et al (1998) Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome. Nat Genet 19(1):47–50

    Article  CAS  PubMed  Google Scholar 

  24. Hinkes B et al (2006) Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible. Nat Genet 38(12):1397–1405

    Article  CAS  PubMed  Google Scholar 

  25. Goldenberg A et al (2005) Respiratory chain deficiency presenting as congenital nephrotic syndrome. Pediatr Nephrol 20(4):465–469

    Article  PubMed  Google Scholar 

  26. Hata D et al (2005) Nephrotic syndrome and aberrant expression of laminin isoforms in glomerular basement membranes for an infant with Herlitz junctional epidermolysis bullosa. Pediatrics 116(4):e601–e607

    Article  PubMed  Google Scholar 

  27. Besbas N et al (2006) Cytomegalovirus-related congenital nephrotic syndrome with diffuse mesangial sclerosis. Pediatr Nephrol 21(5):740–742

    Article  PubMed  Google Scholar 

  28. Shahin B, Papadopoulou ZL, Jenis EH (1974) Congenital nephrotic syndrome associated with congenital toxoplasmosis. J Pediatr 85(3):366–370

    Article  CAS  PubMed  Google Scholar 

  29. Dudley J et al (1996) Systemic lupus erythematosus presenting as congenital nephrotic syndrome. Pediatr Nephrol 10(6):752–755

    Article  CAS  PubMed  Google Scholar 

  30. Massengill SF, Richard GA, Donnelly WH (1994) Infantile systemic lupus erythematosus with onset simulating congenital nephrotic syndrome. J Pediatr 124(1):27–31

    Article  CAS  PubMed  Google Scholar 

  31. Westenend PJ (1995) Congenital nephrotic syndrome in neonatal lupus syndrome. J Pediatr 126(5 Pt 1):851

    Article  CAS  PubMed  Google Scholar 

  32. Levy M, Feingold J (2000) Estimating prevalence in single-gene kidney diseases progressing to renal failure. Kidney Int 58(3):925–943

    Article  CAS  PubMed  Google Scholar 

  33. Holmberg C et al (1995) Management of congenital nephrotic syndrome of the Finnish type. Pediatr Nephrol 9(1):87–93

    Article  CAS  PubMed  Google Scholar 

  34. Seppala M et al (1976) Congenital nephrotic syndrome: prenatal diagnosis and genetic counselling by estimation of amniotic-fluid and maternal serum alpha-fetoprotein. Lancet 2(7977):123–125

    Article  CAS  PubMed  Google Scholar 

  35. Wiggelinkhuizen J et al (1976) Alpha fetoprotein in the antenatal diagnosis of the congenital nephrotic syndrome. J Pediatr 89(3):452–455

    Article  CAS  PubMed  Google Scholar 

  36. Mannikko M et al (1997) Improved prenatal diagnosis of the congenital nephrotic syndrome of the Finnish type based on DNA analysis. Kidney Int 51(3):868–872

    Article  CAS  PubMed  Google Scholar 

  37. Lanning P et al (1989) Ultrasonic features of the congenital nephrotic syndrome of the Finnish type. Acta Paediatr Scand 78(5):717–720

    Article  CAS  PubMed  Google Scholar 

  38. Licht C et al (2000) A stepwise approach to the treatment of early onset nephrotic syndrome. Pediatr Nephrol 14(12):1077–1082

    Article  CAS  PubMed  Google Scholar 

  39. Jalanko H, Holmberg C (2009) Congenital nephrotic syndrome. In: Avner ED, Niaudet P, Yoshikawa N (eds) Pediatric nephrology. Springer, Berlin, pp 601–619

    Chapter  Google Scholar 

  40. Kovacevic L, Reid CJ, Rigden SP (2003) Management of congenital nephrotic syndrome. Pediatr Nephrol 18(5):426–430

    PubMed  Google Scholar 

  41. Guez S et al (1998) Adequate clinical control of congenital nephrotic syndrome by enalapril. Pediatr Nephrol 12(2):130–132

    Article  CAS  PubMed  Google Scholar 

  42. Heaton PA, Smales O, Wong W (1999) Congenital nephrotic syndrome responsive to captopril and indometacin. Arch Dis Child 81(2):174–175

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  43. Pomeranz A et al (1995) Successful treatment of Finnish congenital nephrotic syndrome with captopril and indomethacin. J Pediatr 126(1):140–142

    Article  CAS  PubMed  Google Scholar 

  44. Chadha V, Alon US (1999) Bilateral nephrectomy reverses hypothyroidism in congenital nephrotic syndrome. Pediatr Nephrol 13(3):209–211

    Article  CAS  PubMed  Google Scholar 

  45. Kim MS, Primack W, Harmon WE (1992) Congenital nephrotic syndrome: preemptive bilateral nephrectomy and dialysis before renal transplantation. J Am Soc Nephrol 3(2):260–263

    CAS  PubMed  Google Scholar 

  46. Hu M et al (2004) Prophylactic bilateral nephrectomies in two paediatric patients with missense mutations in the WT1 gene. Nephrol Dial Transplant 19(1):223–226

    Article  CAS  PubMed  Google Scholar 

  47. Slaughenhoupt BL et al (1998) Urologic management of congenital nephrotic syndrome of the Finnish type. Urology 51(3):492–494

    Article  CAS  PubMed  Google Scholar 

  48. Laakkonen H et al (2008) Peritoneal dialysis in children under two years of age. Nephrol Dial Transplant 23(5):1747–1753

    Article  PubMed  Google Scholar 

  49. Haws RM, Weinberg AG, Baum M (1992) Spontaneous remission of congenital nephrotic syndrome: a case report and review of the literature. Pediatr Nephrol 6(1):82–84

    Article  CAS  PubMed  Google Scholar 

  50. Laine J et al (1993) Post-transplantation nephrosis in congenital nephrotic syndrome of the Finnish type. Kidney Int 44(4):867–874

    Article  CAS  PubMed  Google Scholar 

  51. Patrakka J et al (2002) Recurrence of nephrotic syndrome in kidney grafts of patients with congenital nephrotic syndrome of the Finnish type: role of nephrin. Transplantation 73(3):394–403

    Article  PubMed  Google Scholar 

  52. Chaudhuri A et al (2011) Rituximab treatment for recurrence of nephrotic syndrome in a pediatric patient after renal transplantation for congenital nephrotic syndrome of Finnish type. Pediatr Transplant 16(5):E183–E187

    Article  PubMed  Google Scholar 

  53. Kuusniemi AM et al (2007) Plasma exchange and retransplantation in recurrent nephrosis of patients with congenital nephrotic syndrome of the Finnish type (NPHS1). Transplantation 83(10):1316–1323

    Article  PubMed  Google Scholar 

  54. Srivastava T et al (2006) Recurrence of proteinuria following renal transplantation in congenital nephrotic syndrome of the Finnish type. Pediatr Nephrol 21(5):711–718

    Article  PubMed  Google Scholar 

  55. Qvist E et al (1999) Graft function 5–7 years after renal transplantation in early childhood. Transplantation 67(7):1043–1049

    Article  CAS  PubMed  Google Scholar 

  56. Weber S (2008) Hereditary nephrotic syndrome. In: Geary DF, Schaefer F (eds) Comprehensive pediatric nephrology, 1st edn. Elsevier, Philadelphia

    Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Division of Pediatric Nephrology, Cincinnati Children’s Hospital, 3333 Burnet Avenue, Cincinnati, OH, 45229, USA

    Latawanya D. Pleasant MD, FAAP

  2. Division of Pediatric Nephrology, Hypertension and Renal Transplantation, Kentucky Children’s Hospital, University of Kentucky, William R. Willard Medical Science Building, 800 Rose Street, Room MN-109, Lexington, KY, 40536-0284, USA

    Stefan G. Kiessling MD, FAAP

Authors
  1. Latawanya D. Pleasant MD, FAAP
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Stefan G. Kiessling MD, FAAP
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Stefan G. Kiessling MD, FAAP .

Editor information

Editors and Affiliations

  1. Division of Pediatric Nephrology, Hypertension and Renal Transplantation, Kentucky Children’s Hospital, University of Kentucky, Lexington, Kentucky, USA

    Aftab S. Chishti

  2. Urogenital Center, Division of Pediatric Urology, Cincinnati Children’s Medical Center, Cincinnati, Ohio, USA

    Shumyle Alam

  3. Division of Pediatrics, University of Kentucky Children's Hospital, Lexington, Kentucky, USA

    Stefan G. Kiessling

Rights and permissions

Reprints and permissions

Copyright information

© 2014 Springer-Verlag Berlin Heidelberg

About this chapter

Cite this chapter

Pleasant, L.D., Kiessling, S.G. (2014). Congenital Nephrotic Syndrome. In: Chishti, A., Alam, S., Kiessling, S. (eds) Kidney and Urinary Tract Diseases in the Newborn. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-39988-6_15

Download citation

  • DOI: https://doi.org/10.1007/978-3-642-39988-6_15

  • Published:

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-642-39987-9

  • Online ISBN: 978-3-642-39988-6

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics

Search

Navigation