Kidney nontumor / medical renal
Glomerular disease
Inherited glomerular disease
Finnish type
Author: Nikhil Sangle, M.D.
Last author update: 1 April 2012
Last staff update: 18 August 2023
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PubMed Search: Congenital nephrotic syndrome Finnish type
Table of Contents
Definition / general | Case reports | Gross description | Microscopic (histologic) description | Microscopic (histologic) images | Immunofluorescence description | Electron microscopy description | Electron microscopy imagesCite this page: Sangle N. Finnish type. PathologyOutlines.com website. https://www.pathologyoutlines.com/topic/kidneycongenitalnephroticsyndromefinnishtype.html. Accessed September 30th, 2023.
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
- Two Korean infants with genetically confirmed cases (J Korean Med Sci 2009;24:S210)
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:
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
