CONGENITAL NEPHROTIC SYNDROME
 
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CONGENITAL NEPHROTIC SYNDROME

 

DEFINITION:

A familial nephrosis characterized by massive proteinuria, hypoalbuminemia, edema, and hyperlipidemia.

EPIDEMIOLOGY:

  • incidence: 1/10,000 newborns (Finland)
  • age of onset:
    • newborn
  • risk factors:
    • familial - autosomal recessive
      • chrom.#: ?
      • gene: ?
    • M = F

PATHOGENESIS:

1. Background

  • disorder results in a secondary glomerulopathy
  • the etiology is unknown but may involve a glomerular basement membrane (BM) abnormality:
    • metabolic - altered glycoprotein or type IV collagen
    • faulty glomerular BM - synthesis, structure, permeability

CLINICAL FEATURES:

1. Renal Manifestations

1. Proteinuria

  • onset at birth or within 1st week of life

2. Complications

1. Nephrotic Syndrome

  • nephrotic within first 3 months with edema, anasarca

2. Chronic Renal Failure

  • progressing to end stage renal failure (ESRF)

2. Other Manifestations

  • prematurity, large placenta, low birth weight
  • small snub nose, poor somatic development
  • failure to thrive, abdominal distension, infections

INVESTIGATIONS:

1. Urinalysis

  • proteinuria (from birth)

2. Serum

  • elevated maternal and amniotic fluid alpha-fetoprotein (antenatal diagnosis)
  • low albumin, high lipid

3. Renal Biopsy

  • LM - tubules - dilation of the proximal convoluted tubules
  • EM - glomeruli - fusion of foot processes
    • mesangial proliferation and sclerosis

MANAGEMENT:

1. Supportive

  • no treatment for underlying disorder
  • multidisciplinary approach
    • Paediatrics, Nephrology

2. Medical

  • medical management of complications:

1. Nephrotic Syndrome

  • resistant to steroids and immunosuppressives

2. Chronic Renal Failure

  • dialysis or transplantation for ESRF

3. Prognosis

  • poor as many die of recurrent infections or renal failure during the 1st year of life

 

 

 

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