Bay Biosciences provides high-quality, fresh frozen biopsy tissue samples, 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 PBMC biofluid specimens are processed from focal segmental glomerulosclerosis (FSGS) patient’s peripheral whole-blood using customized collection and processing protocols.
Fresh frozen tissue and matched biofluid samples are 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 Overview
Focal segmental glomerulosclerosis (FSGS) is a disease in which scar tissue develops on the parts of the kidneys that filter waste from the blood (glomeruli). FSGS can be caused by a variety of conditions.
FSGS is a rare kidney disease characterized by dysfunction in the part of the kidney that filters blood (the glomeruli). Only some glomeruli are affected, but continued damage can lead to kidney failure.
According to national organization of rare disorders (NORD) FSGS is estimated to affect about 7 people per million people in the general population.
Each kidney is made up of approximately one million tiny filters called “glomeruli.” Much like a coffee filter keeps coffee grounds in, glomeruli filter the blood, taking out the water-like part, which becomes urine, and leaving the protein in the blood.
When glomeruli become damaged or scarred (sclerosis), proteins begin leaking into the urine (proteinuria). “Focal” refers to the fact that FSGS only leads to some of the glomeruli filters becoming scarred; “segmental” means that only some sections of those glomeruli become scarred.
FSGS has no cure and is a serious condition, in some cases it can lead to kidney failure, for which the only treatment options are dialysis or kidney transplant. Treatment options for FSGS depend on the type you have.
The prognosis varies depending on the person. For some people, FSGS goes away on its own without treatment. For others, the disease continues for many years but does not get worse.
Some people with FSGS develop kidney failure. These people may need a kidney transplant or dialysis (ongoing treatment where a machine filters the blood instead of the kidneys). But many people with the disease live active, fulfilling lives.
Types of Focal Segmental Glomerulosclerosis
Following are the four common types of focal segmental glomerulosclerosis (FSGS):
- Primary FSGS: This type of FSGS with wide-spread damage to the kidneys’ filters and accompanying nephrotic syndrome, often with a sudden onset.Primary FSGS means that the disease occurred on its own without a known or obvious reason. The exact cause of primary FSGS is unknown and not precisely understood.
- Genetic FSGS: This type of FSGS with a known genetic cause. There are some known genetic causes of FSGS, and new gene variants are continually being discovered. Because of the genetic element, this type of FSGS tends to occur in families.
- APOL1 FSGS is a distinct for of genetic FSGS: It’s caused by genetic variants in the APOL1 gene found only in individuals with recent African or Caribbean ancestry, and could explain why the rates of severe kidney disease are high in individuals of African and Caribbean descent.
- Secondary FSGS: FSGS caused by other diseases or conditions that occurred first, such as diabetes or hypertension. Other causes of secondary FSGS include:
- Kidney defects from birth (dysplasia)
- Urine backing up into kidneys (kidney reflux)
- Obesity
- Obstructive sleep apnea
- Viruses and blood disorders (such as HIV and sickle cell anemia
anemia) - Autoimmune disorders (such as Lupus and HSP)
- FSGS of undetermined cause (FSGS-UC): FSGS with dispersed damage to the kidneys’ filters, no evidence of a secondary cause, and proteinuria without having nephrotic syndrome.
Signs and Symptoms of Focal Segmental Glomerulosclerosis
Patients with focal segmental glomerulosclerosis (FSGS) experience cycles of remission and relapse. Many patients with FSGS experience no symptoms at all. When symptoms are present, the most common include:
- Swelling in parts of the body, most noticeable around the eyes, hands, feet, and abdomen (edema)
- Weight gain due to extra fluid building up in the body
- High blood pressure (Hypertension)
- High fat levels in the blood (high cholesterol)
- Protein in the urine, which can be foamy (proteinuria)
- Low levels of protein in the blood (hypoalbuminemia)
- High levels of creatinine in the blood due to your kidneys not filtering properly
If the condition is advanced, the symptoms may be like those of kidney failure. Patients may report the following symptoms:
- A poor appetite
- Fatigue
- Headache
- Itchy skin
- Shortness of breath
- Nausea
Causes of Focal Segmental Glomerulosclerosis
Focal segmental glomerulosclerosis (FSGS) is not caused by a single disease. It can have many different causes.
The scarring may happen because of an infection, or drug, or a disease that affects the entire body, like diabetes, HIV infection, sickle cell disease or lupus.
FSGS can also be caused by another glomerular disease that you had before you got FSGS. FSGS has different types based on the cause.
Diagnosis of Focal Segmental Glomerulosclerosis
To diagnose focal segmental glomerulosclerosis (FSGS), doctors examine a tiny portion of the kidney tissue in a procedure called a biopsy. However, because FSGS only affects some sections of the glomeruli, biopsies can sometimes be inconclusive.
Other diagnostic tools to confirm focal segmental glomerulosclerosis (FSGS) include the following:
- Urinalysis: determines the amount of protein in the urine
- Blood work: determines levels of creatinine, albumin, cholesterol, and many other factors examined to rule out other causes
- Glomerular filtration rate (GFR): The GFR estimates your kidney function by calculating blood creatinine levels with urine protein levels.
- Ultrasound: This is performed to get a closer look at the kidneys
Treatment of Focal Segmental Glomerulosclerosis
Currently there are no FDA-approved medicines to treat focal segmental glomerulosclerosis (FSGS). The standard first-line (initially prescribed) treatment for FSGS is prednisone, a corticosteroid aimed at decreasing proteinuria.
Short-term goal of treatment is to stop protein spillage completely (known as remission) or lower the amount of protein lost in the urine as much as possible.
The less protein lost in the urine, the better the patient will do. With FSGS, even partial remission is important.
Long-term goals of treatment include preventing relapses of protein in the urine and preventing the deterioration of kidney function.
Following are the treatments used for Your nephrologist may also recommend:
- Medications that suppress your immune system
- Diuretics and a low-salt diet to help control edema
- A medication that blocks a hormone system called the renin angiotensin system (ACE inhibitor or ARB) to control blood pressure or lower urine protein
- Anticoagulants to prevent blood clots
- Statins to lower the cholesterol level
- Maintaining a healthy diet and regulating protein and fluid intake according to your nephrologist’s recommendations.
- A healthy diet consists of low-sodium foods with an emphasis on fruits and vegetables that are low in saturated fat and cholesterol.
- Exercising
- Not smoking
- Taking vitamins
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.
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