nephrotic syndrome

The nephrotic syndrome is characterized by massive proteinuria, which leads to hypoproteinemia/hypoalbunemia, hyperlipidemia with elevated cholesterols, triglycerides and other lipids, and edema.

Nephrotic syndrome is a malfunction of the kidney glomerular filter that leads to proteinuria, edema and, in steroid-resistant nephrotic syndrome, end-stage kidney disease.

Synopsis

 minimal change glomerulopathy (+)
 membranous glomerulopathy (+)
 focal segmental glomerulosclerosis (+)
 mesangioproliferative glomerulopathy (-)
 diffuse mesangial sclerosis (DMS)

Types

 early-onset nephrotic syndrome

Etiology

 inherited nephrotic syndromes

• WT1 mutations
  • Denys-Drash syndrome
  • Frasier syndrome are related diseases caused by mutations in the WT1

• familial forms of idiopathic nephrotic syndrome with focal and segmental glomerular sclerosis/focal and segmental glomerular hyalinosis

• • Finnish type congenital nephrotic syndrome (mutations in the NPHS1 encoding nephrin)

 paraneoplastic nephrotic syndrome (membranous glomerulonephritis 75%)

• malignant bronchopulmonary tumors
  • small cell bronchial carcinoma
  • squamous bronchial carcinoma

 PLCE1 mutations in early-onset nephrotic syndrome

 NPSE2 mutations

References

 Salomon R, Gubler MC, Niaudet P. Genetics of the nephrotic syndrome. Curr Opin Pediatr. 2000 Apr;12(2):129-34. PMID: 10763762