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Focal Segmental Glomerulosclerosis 7

Disease Details

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Description: Focal segmental glomerulosclerosis 7 is a form of kidney disease characterized by scarring (sclerosis) in some of the glomeruli, which are the filtering units of the kidney.
Type: Focal segmental glomerulosclerosis 7 (FSGS7) is primarily a kidney disorder characterized by scarring (sclerosis) in parts of some glomeruli, which are the filtering units of the kidney. The type of genetic transmission for FSGS7 is autosomal recessive.
Signs And Symptoms: Focal Segmental Glomerulosclerosis 7 (FSGS 7) typically manifests with the following signs and symptoms:

1. **Proteinuria**: High levels of protein in the urine.
2. **Edema**: Swelling, especially in the legs, ankles, and feet due to fluid retention.
3. **Hypertension**: High blood pressure.
4. **Renal dysfunction**: Decreased kidney function which can lead to chronic kidney disease.
5. **Hematuria**: Blood in the urine.
6. **Hypoalbuminemia**: Low levels of albumin in the blood.
7. **Hyperlipidemia**: High levels of lipids in the blood.

These symptoms can vary in severity and may lead to progressive kidney damage if left untreated.
Prognosis: Focal Segmental Glomerulosclerosis (FSGS) is a type of kidney disease characterized by scarring (sclerosis) in the kidneys. Prognosis can vary, but FSGS is often associated with progressive kidney damage. Over time, it can lead to chronic kidney disease and potentially end-stage renal disease, requiring dialysis or a kidney transplant. The specific subtype "FSGS 7" might refer to a genetic variant, but in general, the prognosis depends on the underlying cause, the patient's response to treatment, and other individual health factors.
Onset: Focal Segmental Glomerulosclerosis 7 (FSGS7) typically presents during childhood or early adulthood. It is a subtype of FSGS characterized by scarring in the kidneys, leading to proteinuria, edema, and sometimes reduced kidney function over time. The onset can vary, but early detection and management are crucial for slowing disease progression.
Prevalence: The prevalence of Focal Segmental Glomerulosclerosis (FSGS), including its subtype FSGS type 7, varies geographically but is generally rare. Estimates suggest FSGS occurs in about 7 per million people globally each year. However, specific statistics for subtype 7 are not well-documented, as it is a rare genetic variant among a heterogeneous disease group.
Epidemiology: Focal segmental glomerulosclerosis (FSGS) is a rare disease characterized by scarring (sclerosis) in parts of some glomeruli (the filtering units of the kidney). It can lead to nephrotic syndrome and chronic kidney disease.

The epidemiology of FSGS varies geographically and demographically. In the United States, it is a common cause of idiopathic nephrotic syndrome, especially in adults. The incidence of FSGS is higher among African American individuals compared to other racial groups. It also affects both genders but is slightly more common in males. Studies suggest that the incidence of FSGS has been increasing over recent decades.

FSGS can occur at any age, though it is typically diagnosed in young adults and middle-aged individuals. Genetic forms of FSGS, such as FSGS7, may present earlier in life. The exact prevalence is not well-documented due to its rarity and variation between populations.
Intractability: Focal segmental glomerulosclerosis (FSGS) is often considered intractable, particularly when it becomes resistant to standard treatments. Many patients do not respond well to therapies like steroids and immunosuppressive drugs, leading to challenges in managing the disease effectively. In some cases, progression to end-stage renal disease may be unavoidable despite aggressive treatment.
Disease Severity: Focal segmental glomerulosclerosis 7 (FSGS7) severity can vary widely among individuals. In general, it is a progressive kidney disease that can lead to significant scarring in the kidneys, proteinuria, and potentially to end-stage renal disease (ESRD) requiring dialysis or transplantation. As a genetic disorder, the specific mutation and individual response to treatment can influence the severity and progression of the disease. Prompt diagnosis and management are crucial to slow disease progression.
Healthcare Professionals: Disease Ontology ID - DOID:0111132
Pathophysiology: Focal Segmental Glomerulosclerosis (FSGS) is a disease characterized by scarring (sclerosis) in the kidney's filtering units (glomeruli). Specifically, FSGS-7 indicates a genetic form associated with mutations in the INF2 gene.

Pathophysiology:
1. **Genetic Mutation**: The INF2 gene, which codes for a protein involved in actin cytoskeleton organization, is mutated. This disrupts podocyte function (cells critical to the kidney's filtering mechanism).
2. **Podocyte Damage**: The dysfunctional protein impairs the structural integrity and signaling pathways of podocytes, leading to their injury and depletion.
3. **Glomerular Sclerosis**: As podocytes are essential for maintaining the glomerular filtration barrier, their loss or damage causes segmental scarring in the glomeruli.
4. **Proteinuria**: The compromised filtration barrier allows protein to leak into the urine, a hallmark sign of FSGS.
5. **Kidney Function Decline**: Over time, the ongoing podocyte damage and glomerular sclerosis can lead to a progressive decline in kidney function, potentially resulting in chronic kidney disease and end-stage renal disease.

Understanding the specific genetic basis and podocyte-related mechanisms helps tailor potential therapies and management strategies for FSGS-7.
Carrier Status: Focal Segmental Glomerulosclerosis 7 (FSGS7) is a subtype of FSGS, a disease characterized by scarring (sclerosis) in the kidneys, specifically affecting the glomeruli. The designation "7" typically indicates a specific genetic mutation associated with this subtype.

Carrier status generally refers to individuals who have one copy of a recessive gene mutation but do not exhibit symptoms of the disease. In the context of FSGS7:

- **Inheritance Pattern**: FSGS can have various inheritance patterns, including autosomal dominant and autosomal recessive, depending on the specific gene involved. For FSGS7, if the pattern is autosomal recessive, a carrier would have one mutated copy of the gene and one normal copy.
- **Implications of Carrier Status**: Carriers of an autosomal recessive form typically do not show symptoms but can pass the mutated gene to offspring. If both parents are carriers, their children have a 25% chance of having the disease, a 50% chance of being a carrier, and a 25% chance of having two normal copies of the gene.

When the inheritance pattern is autosomal dominant, a single copy of the mutated gene can cause the disease, and there is no "carrier" state in the traditional sense.

For precise information about carrier status and inheritance for FSGS7, genetic counseling and testing are recommended.
Mechanism: Focal Segmental Glomerulosclerosis (FSGS) type 7, similar to other forms of FSGS, involves scarring (sclerosis) in the kidney's glomeruli, which are the tiny structures involved in blood filtration. The specific subtype FSGS type 7 is typically classified based on genetic mutations.

## Mechanism:
FSGS generally leads to damage and scarring of the glomeruli, resulting in protein leakage into the urine (proteinuria) and subsequent loss of kidney function. Causes of FSGS can be classified as primary (idiopathic) or secondary (due to factors like drugs, viruses, or other kidney diseases).

## Molecular Mechanisms:
1. **Genetic Mutations:** FSGS type 7 is often associated with mutations in specific genes responsible for kidney filtration barrier integrity (such as podocin, encoded by the NPHS2 gene, or alpha-actinin-4, encoded by the ACTN4 gene). Genetic defects disrupt the structure and function of podocytes, which are crucial cells in the glomerular filtration barrier.

2. **Podocyte Injury:** Podocytes support the glomerular filtration barrier. Mutations in genes like NPHS2 and others impair podocyte function and survival, leading to podocyte foot process effacement, detachment from the glomerular basement membrane, and subsequent glomerular scarring.

3. **Proteinuria:** As the glomerular filtration barrier is compromised due to podocyte injury, proteins such as albumin leak into the urine, causing proteinuria, a hallmark of FSGS.

Understanding these mechanisms is critical for developing potential targeted therapies to stabilize podocyte function and protect the glomeruli from progressive damage.
Treatment: Focal Segmental Glomerulosclerosis (FSGS) is a type of kidney disease characterized by scarring in the glomeruli, the tiny filtering units within the kidney. Treatment approaches for FSGS typically aim to reduce proteinuria (excess protein in the urine) and preserve kidney function. Some common treatments include:

1. Corticosteroids or immune-suppressing medications: These can help reduce inflammation and immune responses that may contribute to kidney damage.
2. Angiotensin-converting enzyme (ACE) inhibitors or angiotensin II receptor blockers (ARBs): These medications can help lower blood pressure and reduce proteinuria.
3. Diuretics: To manage swelling (edema) by helping the body eliminate excess salt and water.
4. Dietary changes: Reducing salt intake and lowering protein consumption as recommended by a healthcare provider.
5. Statins: To manage high cholesterol levels, which are often associated with FSGS.
6. Plasma exchange (plasmapheresis): This may be considered in certain cases, especially if the condition is resistant to other treatments.

It is essential to work closely with a healthcare provider to determine the most appropriate treatment plan tailored to an individual’s specific condition and needs.
Compassionate Use Treatment: Focal segmental glomerulosclerosis (FSGS) is a type of glomerular disease that leads to scarring in the kidneys and subsequent kidney dysfunction. The management of FSGS, particularly its subtype FSGS-7, can be challenging, especially when conventional therapies are ineffective.

Compassionate Use Treatment:
Compassionate use, also known as expanded access, allows patients with serious or life-threatening conditions access to investigational drugs when no comparable or satisfactory alternative treatments are available. For FSGS-7, some options that might be considered under compassionate use include investigational drugs or therapies that are in clinical trials but not yet widely approved.

Off-label or Experimental Treatments:
1. **Calcineurin Inhibitors**: Drugs like tacrolimus and cyclosporine are sometimes used off-label to manage FSGS due to their immunosuppressive effects.
2. **Rituximab**: An off-label treatment that has shown promise in some cases. It is a monoclonal antibody that targets B-cells and is primarily used in autoimmune diseases and certain types of cancer.
3. **Plasmapheresis**: An experimental treatment for severe cases of FSGS, this procedure removes antibodies from the blood, which might reduce immune-mediated damage to the kidneys.
4. **ACTH (Adrenocorticotropic Hormone)**: Off-label use of ACTH has been explored for its potential benefits in inducing remission in FSGS patients.

It's crucial to consult a healthcare professional to discuss these options, as the suitability and effectiveness can vary greatly between individuals.
Lifestyle Recommendations: For Focal Segmental Glomerulosclerosis (FSGS) 7, lifestyle recommendations include:

1. **Dietary Changes**:
- **Low-Sodium Diet**: Reducing salt intake to help control blood pressure and reduce fluid retention.
- **Protein Intake**: Moderating protein consumption to lessen the kidneys' workload.
- **Balanced Diet**: Emphasizing fruits, vegetables, whole grains, and healthy fats.

2. **Fluid Management**:
- Monitor and possibly limit fluid intake based on kidney function and physician advice.

3. **Blood Pressure Control**:
- Regular monitoring and maintaining blood pressure within target ranges, often through diet, exercise, and possibly medications.

4. **Healthy Weight**:
- Maintaining a healthy weight through exercise and diet to reduce stress on the kidneys.

5. **Avoiding Kidney Toxins**:
- Limiting or avoiding substances that can harm the kidneys, such as nonsteroidal anti-inflammatory drugs (NSAIDs) and alcohol.

6. **Regular Exercise**:
- Engaging in regular physical activity to improve overall health and support cardiovascular function.

7. **Smoking Cessation**:
- Quitting smoking to improve overall kidney and cardiovascular health.

8. **Managing Comorbidities**:
- Effectively controlling other conditions like diabetes and hypertension that can exacerbate kidney disease.

9. **Regular Medical Follow-ups**:
- Keeping up with regular appointments with healthcare providers to monitor kidney function and adjust treatment plans as necessary.

Following these lifestyle recommendations can help manage symptoms and potentially slow the progression of FSGS 7.
Medication: Focal Segmental Glomerulosclerosis 7 (FSGS7) is a specific subtype of a kidney disorder that affects the glomeruli, the tiny filtering units within the kidneys. There is no one-size-fits-all medication for FSGS7, but treatment generally focuses on reducing proteinuria (protein in the urine) and slowing disease progression. Commonly used medications include:

1. **Corticosteroids** (e.g., prednisone) - to reduce inflammation.
2. **Immunosuppressive agents** (e.g., cyclosporine, tacrolimus) - to suppress the immune response.
3. **Angiotensin-Converting Enzyme (ACE) inhibitors** (e.g., lisinopril) and **Angiotensin II Receptor Blockers (ARBs)** (e.g., losartan) - to lower blood pressure and reduce proteinuria.
4. **Diuretics** (e.g., furosemide) - to control edema (swelling).
5. **Statins** (e.g., atorvastatin) - to manage high cholesterol.
6. **Antihypertensive medications** - to control high blood pressure.

Nan (not a number) is not relevant in the context of medications for FSGS7.
Repurposable Drugs: As of now, there are no specific repurposable drugs that have been universally validated and approved for the treatment of Focal Segmental Glomerulosclerosis (FSGS) type 7. Therapies for FSGS often involve drugs that reduce proteinuria and control blood pressure, such as ACE inhibitors or angiotensin II receptor blockers (ARBs). Immunosuppressive therapies, like corticosteroids, calcineurin inhibitors, and mycophenolate mofetil, may also be employed. Clinical trials are ongoing to explore new treatment options, including the potential repurposing of existing drugs.
Metabolites: Focal segmental glomerulosclerosis (FSGS) is a renal disorder primarily affecting the kidney's filtering units. As for FSGS Type 7, specific details about metabolites directly linked to this subtype may not be well-defined. However, alterations in common nephrotic syndrome markers may occur, such as elevated serum creatinine and urea levels, decreased albumin levels, and the presence of proteinuria.
Nutraceuticals: For focal segmental glomerulosclerosis (FSGS), there is limited evidence on the efficacy of nutraceuticals specifically for this condition. Nutraceuticals, which are foods or food products that reportedly provide health and medical benefits, including the prevention and treatment of disease, are generally not a primary treatment for FSGS. Management typically involves medications such as corticosteroids, immunosuppressants, and supportive treatments like blood pressure control and dietary modifications.

There's no current standard nanotechnology treatment for FSGS. Research in nanomedicine is an evolving field and may offer future potential in targeted drug delivery systems, but as of now, it is not a conventional or widely accepted approach for treating FSGS.
Peptides: Focal segmental glomerulosclerosis (FSGS) type 7 is a specific subtype of FSGS, a kidney disorder characterized by scarring (sclerosis) in the kidney's filtering units (glomeruli). Currently, there is no information provided or widely known about specific peptides directly associated with this particular subtype. Further research may be needed to identify any relevant peptides involved in its pathology or treatment.