Focal segmental glomerulosclerosis (FSGS) is a cause of nephrotic syndrome in children and adolescents, as well as a leading cause of kidney failure in adults. It is also known as “focal glomerular sclerosis” or “focal nodular glomerulosclerosis.” It accounts for about a sixth of the cases of nephrotic syndrome. (Minimal change disease (MCD) is by far the most common cause of nephrotic syndrome in children: MCD and primary FSGS may have a similar cause.)

 

Symptoms

In children and some adults, FSGS presents as a nephrotic syndrome, which is characterized by edema (associated with weight gain), hypoalbuminemia (low serum albumin, a protein in the blood), hyperlipidemia and hypertension (high blood pressure). In adults it may also present as kidney failure and proteinuria, without a full-blown nephrotic syndrome.

 

Causes

Some general secondary causes are listed below:

  • Glomerular hypertrophy/hyperfiltration
    • Unilateral renal agenesis
    • Morbid obesity
  • Scarring due to previous injury
    • Focal proliferative glomerulonephritis
    • Vasculitis
    • Lupus
  • Toxins (pamidronate)
  • Human immunodeficiency virus-associated nephropathy
  • Heroin nephropathy

Focal segmental glomerulosclerosis may develop following acquired loss of nephron’s from reflux nephropathy. Proteinuria is nonselective in most cases and may be in subnephrotic range(nephritic range <3.0gm/24hr) or nephritic range.

There are currently several known genetic causes of the hereditary forms of FSGS.

Tests

  • Urinalysis
  • Blood tests — cholesterol
  • Kidney biopsy

Resources

 

 

To learn more about rare genetic diseases, visit https://checkrare.com/diseases/congenital-and-genetic-conditions/