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Major causes of congenital nephrotic syndrome

Major causes of congenital nephrotic syndrome
Primary causes
Genetic disorders
  • Finnish-type congenital nephrotic syndrome due to variants of NPHS1, which encodes nephrin
  • Familial focal segmental glomerulosclerosis (FSGS) due to variants of NPHS2, which encodes podocin
  • Denys-Drash syndrome due to variants of WT1, which encodes the transcription tumor suppressor
  • Pierson syndrome due to variants of LAMB2, which encodes laminin beta 2
  • Variants of NPHS3 (PLCE1), which encodes phospholipase C epsilon
  • Other genetic disorders that present with congenital nephrotic syndrome include Galloway-Mowat syndrome, mitochondrial disorders, Herlitz junctional epidermolysis bullosa, and some cases of nail-patella syndrome
Idiopathic nephrotic syndrome*
Secondary causes
Infection
  • Congenital syphilis
  • Congenital toxoplasmosis
Toxic exposure
  • Mercury exposure
* Idiopathic nephrosis rarely occurs at birth, more commonly presenting during the first year of life. All the morphological variants of idiopathic nephrotic syndrome seen in older children can occur at this time including minimal change disease, diffuse mesangial proliferation, and focal segmental glomerulosclerosis.
Graphic 80781 Version 3.0