Focal segmental glomerulosclerosis (FSGS) in adults with nephrotic range proteinuria. FSGS accounts for about 15% to 20% of the nephrotic syndrome in older children as well. The frequency of FSGS in a given population of patients with the nephrotic syndrome is influenced by the racial composition of the population, because FSGS is more common in blacks than whites.
Children and young adults with FSGS nephrotic syndrome have large amounts of protein in the urine (proteinuria), which is the result of tissue degeneration and scarring that occurs in the kidney’s glomeruli, tiny clusters of looping blood vessels that filter the blood. The degeneration and scarring are characteristically limited to one part of the glomerulus and to a minority of glomeruli in the affected region. Non-selective proteinuria is both a valuable surrogate marker for measuring the severity of injury to the glomeruli and a risk factor for progressive loss of kidney function.
Symptoms of nephrotic syndrome include retention of fluid in body tissues (edema), retention of fluid in the abdominal cavity (ascites), a high level of blood lipids (hyperlipidemia), and formation of blood clots (thromboemboli). Most pediatric patients have renal biopsy findings consistent with the diagnosis of minimal change disease. Typically, these patients will have remission of clinical symptoms after treatment with a course of high-dose prednisone, and they rarely develop progressive disease that leads to end-stage renal disease (ESRD) and kidney failure.
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Focal segmental glomerulosclerosis (FSGS) is a disease in which scar tissue develops on the parts of the kidneys that filter waste out of the blood (the glomeruli). FSGS can be caused by a variety of conditions. Without treatment, primary FSGS will usually lead to kidney failure where the only treatment options are dialysis or kidney transplant.
Signs and symptoms
The most common clinical presenting feature of FSGS (>70% of patients) is nephrotic syndrome, characterized by generalized edema, massive proteinuria, hypoalbuminemia, and hyperlipidemia. However, the natural history of FSGS is variable and can range from edema that is difficult to manage, to proteinuria that is refractory to corticosteroids and other immunosuppressive agents, to worsening hypertension and a progressive loss of renal function.
In the collapsing form of FSGS, the disease is marked by severe hypertension, more massive proteinuria, a very poor response to corticosteroids, and a much faster rate of progression to ESRD. In human immunodeficiency virus (HIV)–associated FSGS, the renal functional deterioration is rapid, leading to ESRD within a few weeks to 1 year.
Diagnosis For FSGS
Kidney (renal) function testing. Blood tests and an analysis of a 24-hour urine collection are mainstays. Sometimes a more sophisticated test may be ordered — an iothalamate clearance test, which uses a special contrast agent to track how well your kidneys are filtering. Mayo Clinic is one of the few centers to specialize in iothalamate clearance testing using a dedicated renal pathology laboratory.
Kidney biopsy. Biopsy is the most accurate test to confirm the diagnosis of many kidney diseases, including FSGS. Because of the large number of people they evaluate each day, Mayo Clinic specialists are very experienced with kidney biopsies and have an outstanding track record for safety.
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