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Congenital Nephrotic Syndrome (CNS)

Definition

CNS is a rare kidney disease usually symptomatic within the first 3  months of life or even intrauterine. The congenital Finnish type nephrotic syndrome is due to recessive mutations in the gene NPHS1, usually progressess rapidly to end-stage kidney disease. Although initally described in Finnish population, it has been detected worldwide. There are other less severe genetic forms reported, some of them are syndromatic and some others are autosomal dominant. The genetic forms of nephrotic syndrome are typically resistant to steroids and other immunosupresive therapies, genetic test is very useful to perform precise diagnosis and provide optimal therapy.

Why to perform genetic testing in cases with suspected CNS

  • To confirm the PRECISE diagnosis
  • To better perform risk stratification and prognosis
  • To select the best therapeutic option for that spcific patient based on the genotype
  • To identify other relatives at risk to develop the disease

 

Our CNS panel

Short Panel:

LAMB2, LMX1B, MAGI2, NPHS1, NPHS2, PLCE1, WT1

Long Panel:

ACTN4,  AGXT, CD2AP, CLCN5, COL4A3, COL4A4, COL4A5, COQ2, CTNS,  GLA, INF2, ITGA3, LAMB2, LMX1B, MAGI2, NPHS1, NPHS2, OCRL, PAX2, PLCE1, SMARCAL1, TRPC6, TTC21B, WT1

Important: All our panels can be modified based on the phenotype. Please contact us if you have questions

What to expect from this test: The yield of the genetic test in congenital forms of nephrotic syndrome is close to 80%

 

Recommended Literature

  • Detailed clinical manifestations at onset and prognosis of neonatal-onset Denys-Drash syndrome and congenital nephrotic syndrome of the Finnish type. Nishi K, et al., Clin Exp Nephrol. 2019 Apr 8.
  • Treatment and outcome of congenital nephrotic syndrome. Berody S., et al., Nephrol Dial Transplant. 2019 Mar 1;34(3):458-467
  • Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome. Warejko JK. Clin J Am Soc Nephrol. 2018 Jan 6; 13(1): 53–6

 

Download here interesting open access manuscripts on CNS