Kidney nontumor
Inherited glomerular diseases
Congenital nephrotic syndrome - Finnish type

Topic Completed: 1 April 2012

Minor changes: 7 February 2020

Copyright: 2002-2020,, Inc.

PubMed Search: Congenital nephrotic syndrome [title] Finnish type

Nikhil Sangle, M.D.
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Cite this page: Sangle N. Congenital nephrotic syndrome - Finnish type. website. Accessed May 28th, 2020.
Definition / general
  • Autosomal recessive disorder (OMIM: Nephrotic Syndrome, Type 1; NPHS1)
  • Also called NPHS1, Finnish congenital nephrosis
  • 1.5% of cases of nephrotic syndrome in childhood
  • Occurs in 1 per 10,000 newborns in Finland, lower incidence elsewhere (1 in 50,000 in North America)
  • Nephrin protein is produced by glomerular podocyte, encoded by NPHS1 at 19q13.1; normally expressed at slit diaphragm of glomerular podocyte but missing or defective (due to misfolding or defective intracellular trafficking) in patients with Finnish type syndrome
  • Can diagnose in utero via genetic testing; suggested by heavy proteinuria in utero, increased AFP levels in maternal serum or amniotic fluid
  • At birth, large placentas, proteinuria, edema, infections, premature birth, mild facial / limb abnormalities and poor development
  • Doesn't respond to steroids or immunosuppression; death without kidney transplant
  • Dramatic improvement with transplant but 20% have recurrence of nephrotic syndrome, which may respond to rituximab (Pediatr Transplant 2012;16:183)
Case reports
Gross description
  • Enlarged kidneys due to tubular dilation and interstitial edema
Microscopic (histologic) description
  • Proximal and distal tubular ectasia with flattening of tubular epithelium, microcysts with or without tubular PAS+ hyaline casts, glomerulosclerosis, mesangial hypercellularity, occasional immature glomeruli
  • May evolve to focal and segmental glomerulosclerosis
  • At renal failure stage, is interstitial fibrosis, global glomerulosclerosis and tubular atrophy
Microscopic (histologic) images

Images hosted on other servers:

Patchy interstitial edema
and cystically dilated
tubules with attenuated

Mesangial hypercellularity
and diffuse increase
of mesangial matrix

Various immunostains

Immunofluorescence description
  • Nonspecific IgM and C3 in mesangium and capillaries
Electron microscopy description
  • Obliteration (effacement) of foot processes
Electron microscopy images

Images hosted on other servers:

Wide effacement of epithelial foot processes

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