Bay Biosciences provides high-quality biopsy tissue samples, formalin fixed paraffin embedded (FFPE) tissue blocks, with matched fresh frozen sera (serum), plasma, and peripheral blood mononuclear cells (PBMC) bio-fluids, from patients diagnosed with focal segmental glomerulosclerosis (FSGS).
The sera (serum), plasma and peripheral blood mononuclear cells (PBMC) biofluid specimens are processed from patients peripheral whole-blood using customized collection and processing protocols from focal segmental glomerulosclerosis (FSGS).
Fresh frozen tissue and matched biofluid samples were, collected from unique patients diagnosed with focal segmental glomerulosclerosis (FSGS).
Bio-samples are provided to a valued pharmaceutical customer for research, diagnostics, discovery, and drug development.
Focal Segmental Glomerulosclerosis (FSGS) Overview
Focal segmental glomerulosclerosis (FSGS) is a disease in which scar tissue develops on the glomeruli, the small parts of the kidneys that filter waste from the blood. It is a serious condition that can lead to kidney failure, which can only be treated with dialysis or kidney transplant.
Focal segmental glomerulosclerosis (FSGS) is a rare disease that received its name because of how the affected kidney tissue looked under a microscope.
Each of your kidneys contain about one million small filters. These filters are made up of a tuft of small blood vessels called a glomerulus.
In FSGS, some but not all of the glomeruli (focal) are affected in one part of the glomerulus, known as a segment (segmental), with the formation of a scar (also called sclerosis) leading to the name focal segmental glomerulosclerosis.
When this scarring happens, these tiny filters do not work properly. Proteins that are normally retained in the circulation are lost in your urine, excess fluid may be retained leading to swelling and the blood isn’t cleaned properly, which can cause symptoms of kidney failure.
Scarring of the glomeruli can also contribute to other health problems, such as high blood pressure (hypertension) and high cholesterol (elevated levels of fat in the blood). In some cases, FSGS causes permanent kidney damage or kidney failure.
Types of FSGS
Following are different types of Focal segmental glomerulosclerosis (FSGS):
- Primary FSGS: Most patients diagnosed with FSGS have no known cause for their disease. This condition is known as primary or idiopathic FSGS
- Secondary FSGS: Several factors, such as infection, drug toxicity, diseases including diabetes or sickle cell disease, obesity, and even other kidney diseases can cause secondary FSGS. Controlling or treating the underlying cause often slows ongoing kidney damage and might lead to improved kidney function over time.
- Genetic FSGS: This is a are form of FSGS caused by genetic changes. It is also called familial FSGS. It’s suspected when several members of a family show signs of FSGS. Familial FSGS can also occur when neither parent has the disease but each one carries a copy of an altered gene that can be passed on to the next generation.
- Unknown FSGS: In some cases, the underlying cause of FSGS cannot be determined despite the evaluation of clinical symptoms and extensive testing.
Causes of FSGS
Focal segmental glomerulosclerosis can be caused by a variety of conditions, such as diabetes, sickle cell disease, other kidney diseases and obesity. It can also be caused by an infection and drug toxicity. A rare form of FSGS is caused by inherited abnormal genes. Sometimes there’s no identifiable cause.
Several factors that could cause secondary FSGS can include the following:
- Diseases including sickle cell anemia
- Medications, such as interferons or bisphosphonates
- Drugs such as heroin or anabolic steroids (substances used to enhance muscle growth)
- Infection, including viruses such as HIV
- Obesity
Signs and Symptoms of FSGS
Early stages may not cause any symptoms. focal segmental glomerulosclerosis (FSGS) does not always cause symptoms you might notice on your own. Doctors often find signs or symptoms during a regular medical check or when testing for other issues.
Signs and symptoms of focal segmental glomerulosclerosis (FSGS) include the following:
- Swelling in body parts like your legs, ankles and around your eyes (called edema)
- Weight gain due to extra fluid building in your body
- Foamy urine caused by high protein levels in the urine (proteinuria)
- High fat levels in the blood (high cholesterol)
- Low levels of protein in the blood
FSGS can also cause nephrotic syndrome.
- Nephrotic Syndrome: A set of symptoms that happen together and affect your kidneys. These include the following:
- Swelling in body parts like your legs, ankles, or around your eyes (edema)
- Large amounts of protein in your urine (proteinuria)
- Loss of protein in your blood
- High levels of fat lipids in your blood (high cholesterol)
- High blood pressure (hypertension)
If the condition is advanced, the symptoms may be like those of kidney failure. Patients may report fatigue, a poor appetite, headache, itchy skin, shortness of breath and nausea.
Diagnosis of FSGS
Several diagnostic tests may be performed to identify and diagnose focal segmental glomerulosclerosis (FSGS). These diagnostic tests can include the following:
- Blood test: Taking a blood sample to test and measure levels of protein and fat in the patient’s blood.
- Glomerular filtration rate (GFR): Checking a blood sample to measure how well your kidneys work.
- Urine test: Measuring the levels of blood and protein in the patient’s urine.
However, a definitive diagnosis of FSGS can only be made with a kidney biopsy.
- Kidney biopsy: Using a needle to take a small sample of tissue from the kidney for a lab to study for signs of FSGS under a microscope.
Sometimes, doctors use genetic testing to confirm diagnosis of genetic FSGS. But because genetic tests can be expensive, and there are no known treatments for many forms of genetic FSGS, genetic testing is not common.
Treatment of FSGS
Treatment for focal segmental glomerulosclerosis (FSGS) depends on the type and cause, the patient’s age, and whether they have other health conditions. Doctors aim to control and manage symptoms to help the patients maintain a good quality of life and slow or prevent progressive scarring so that it does not lead to kidney failure.
In some patients with secondary FSGS, treating the underlying condition may stop kidney damage from progressing. Doctors cannot repair glomeruli, but over time, kidney function may improve in these patients.
Following are some of the other treatments for FSGS:
- Angiotensin-converting enzyme (ACE) inhibitors: Drugs that treat high blood pressure (hypertension).
- Antibiotics: Medicines to treat infections.
- Diuretics: Medications that lower blood pressure and ridding the body of excess fluids.
- Immunosuppressive drugs: Drugs that manage the immune system response, such as cyclosporine and tacrolimus.
- Plasmapheresis: A procedure that decreases the number of antibodies by removing plasma (liquid) from the blood.
- Prednisone: A drug that lowers levels of protein in the urine.
Complications of FSGS
Focal segmental glomerulosclerosis (FSGS) can lead to high blood pressure (hypertension) and high cholesterol, and in some cases, FSGS can lead to kidney failure. This condition can be life-threatening and requires emergency medical treatment.
Patients should seek immediate care if they have FSGS and experience any of these symptoms of kidney failure:
- Uncontrolled high blood pressure (hypertension).
- Nausea, vomiting or loss of appetite.
- Swelling in the arms, legs or face.
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