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nephrotic syndrome

Tuesday 11 May 2004

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

  • 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