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Focal Segmental Glomerulosclerosis 5

Disease Details

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Description: Focal segmental glomerulosclerosis 5 (FSGS5) is a genetic disorder characterized by scarring (sclerosis) of certain regions (focal) and segments (segmental) within the kidney's filtering units, leading to progressive kidney damage and potential kidney failure.
Type: Focal segmental glomerulosclerosis 5 (FSGS5) is a type of focal segmental glomerulosclerosis, which is a disease that affects the kidney's filtering units, leading to scarring. FSGS5 is inherited in an **autosomal dominant** pattern.
Signs And Symptoms: Focal Segmental Glomerulosclerosis 5 (FSGS 5) is a genetic disorder affecting the kidneys. Signs and symptoms typically include:

1. Proteinuria (excessive protein in the urine)
2. Edema (swelling, particularly in the legs, ankles, and feet)
3. Reduced kidney function
4. Hypertension (high blood pressure)
5. Foamy urine (due to high protein levels)
6. Hypoalbuminemia (low levels of albumin in the blood)
7. Hyperlipidemia (high levels of fats in the blood)

Patients with FSGS 5 may progress to chronic kidney disease or even kidney failure if left untreated. Regular monitoring and medical management are essential to manage symptoms and slow disease progression.
Prognosis: Focal Segmental Glomerulosclerosis 5 (FSGS5) is a genetic form of a kidney disorder that affects the glomeruli, leading to proteinuria and progressive kidney dysfunction. Prognosis for FSGS5 can vary:

1. **Progression Rate**: The disease often progresses to chronic kidney disease and potentially end-stage renal disease (ESRD), necessitating dialysis or kidney transplantation.

2. **Response to Treatment**: Some patients respond to treatments like steroids and immunosuppressive agents, which can slow disease progression. However, response rates vary, and some patients may develop treatment-resistant forms.

3. **Genetic Factors**: The specific genetic mutations associated with FSGS5 can influence disease course and response to treatment.

Overall, the prognosis involves careful management to slow progression and monitor for complications, ultimately aiming to preserve kidney function as long as possible.
Onset: Focal segmental glomerulosclerosis 5 (FSGS5) is a subtype of focal segmental glomerulosclerosis, a kidney disorder. The onset of FSGS5 can occur at any age, including childhood and adulthood, and it is typically characterized by proteinuria, which may lead to nephrotic syndrome.
Prevalence: The prevalence of Focal Segmental Glomerulosclerosis (FSGS) in general is estimated to be around 7 per million in the general population, but it can vary based on different subtypes and genetic factors. Specific prevalence data for FSGS caused by particular genetic mutations, such as those associated with Focal Segmental Glomerulosclerosis 5 (FSGS5), may not be well-documented due to the rarity of these conditions.
Epidemiology: Focal segmental glomerulosclerosis 5 (FSGS5) is a subtype of focal segmental glomerulosclerosis, a disease that affects the kidney's filtering system (glomeruli).

**Epidemiology:**
- FSGS is one of the primary causes of nephrotic syndrome in adults and children.
- It has an estimated annual incidence of 7 per million population in the general population.
- The prevalence is higher in certain ethnic groups, such as African Americans, who are at increased risk of developing FSGS.
- FSGS5 is caused by mutations specifically in the INF2 gene, making it an inherited form with an autosomal dominant pattern, affecting both males and females equally who carry the mutation.

**Nan:**
- The term "nan" does not correspond to any recognized epidemiological data or concept related to focal segmental glomerulosclerosis 5 or any other subtypes of FSGS. If "nan" was typed erroneously, additional context or correction would be needed to provide accurate information.
Intractability: Focal segmental glomerulosclerosis (FSGS) can be challenging to treat and often proves to be intractable. While some patients respond to treatment with corticosteroids or immunosuppressive drugs, others may experience persistent or worsening kidney function, eventually leading to end-stage renal disease requiring dialysis or a kidney transplant. Treatments aim to control symptoms and slow disease progression, but there is no definitive cure.
Disease Severity: Focal Segmental Glomerulosclerosis 5 (FSGS5) is a subtype of a serious kidney disorder that can lead to significant damage to the glomeruli, the filtering units of the kidney. The severity of FSGS5 can vary widely among individuals, ranging from mild symptoms and slow progression to rapid kidney function decline, potentially leading to end-stage renal disease (ESRD). Regular monitoring and appropriate medical interventions are crucial for managing the disease.
Healthcare Professionals: Disease Ontology ID - DOID:0111130
Pathophysiology: Focal Segmental Glomerulosclerosis (FSGS) is a type of kidney disease characterized by scarring (sclerosis) in the glomeruli, which are the tiny filtering units within the kidney. The "focal" part means that some of the glomeruli are affected, while others remain normal. The "segmental" component indicates that only parts of individual glomeruli are scarred.

The pathophysiology of FSGS involves several mechanisms:

1. **Podocyte Injury**: Podocytes are specialized cells in the glomeruli that play a key role in the filtration barrier. Injury or dysfunction of these cells can lead to proteinuria (protein in the urine).

2. **Scarring**: The injury to podocytes and the subsequent loss of their function can cause segmental areas of the glomeruli to scar. This scarring disrupts the normal filtration process.

3. **Immune System Involvement**: There may be an immune-mediated component, where circulating factors in the blood cause further damage to the glomeruli.

4. **Genetic Factors**: Mutations in certain genes, such as those coding for proteins important for podocyte structure and function, can predispose individuals to developing FSGS.

5. **Hemodynamic Changes**: Increased pressure within the glomerular capillaries can contribute to damage and scarring of the glomeruli.

FSGS can progress to chronic kidney disease and potentially lead to end-stage renal disease, requiring dialysis or a kidney transplant.
Carrier Status: For Focal Segmental Glomerulosclerosis 5 (FSGS5), carrier status indicates whether a person carries a single altered copy of a gene associated with this condition. FSGS5 is often inherited in an autosomal dominant manner, meaning that carrying one altered copy of the relevant gene can lead to the development of the disease. Carrier status is typically determined through genetic testing. "nan" generally means "not a number" and might be an error or placeholder; it doesn't provide relevant information for FSGS5.
Mechanism: Focal segmental glomerulosclerosis 5 (FSGS5) is a genetic form of FSGS characterized by scarring (sclerosis) in some of the glomeruli within the kidney.

### Mechanism
- **Pathophysiology**: FSGS5 leads to damage and scarring of the glomeruli, impairing their filtering function. This can result in proteinuria (excess protein in urine), reduced kidney function, and, ultimately, chronic kidney disease.

### Molecular Mechanisms
- **Genetic Mutations**: FSGS5 is typically associated with mutations in the INF2 gene, which encodes for the protein inverted formin-2 (INF2).
- **Protein Dysfunction**: INF2 plays a critical role in maintaining the structure and function of podocytes, the cells that line the glomeruli. Mutations in INF2 can cause alterations in the actin cytoskeleton of podocytes, leading to their dysfunction and detachment from the glomerular basement membrane.
- **Cytoskeletal Abnormalities**: The actin cytoskeleton is crucial for maintaining podocyte shape and filtration barrier integrity. Mutant INF2 disrupts actin dynamics, leading to podocyte injury and subsequent glomerular scarring.
- **Podocyte Injury**: Dysfunctional podocytes result in increased permeability of the glomerular filtration barrier, causing proteinuria and eventually sclerosis.

Overall, the interplay between genetic mutations in INF2 and the resultant structural and functional abnormalities in podocytes drives the development of FSGS5.
Treatment: Focal Segmental Glomerulosclerosis (FSGS) is treated based on the severity of the disease and the patient's response to initial treatment.

1. **Immunosuppressive Therapy**: Corticosteroids are often the first-line treatment. If unresponsive, other immunosuppressive drugs such as calcineurin inhibitors (cyclosporine, tacrolimus) or mycophenolate mofetil may be prescribed.

2. **ACE Inhibitors or ARBs**: Angiotensin-converting enzyme inhibitors (ACE inhibitors) or angiotensin II receptor blockers (ARBs) are used to control blood pressure and reduce proteinuria.

3. **Diuretics**: Used to manage edema.

4. **Statins**: May be prescribed to manage hyperlipidemia.

5. **Diet and Lifestyle**: Dietary modifications, reducing salt intake, and managing body weight can support treatment.

Progression of the disease can lead to kidney failure, requiring dialysis or a kidney transplant.

Note: "nan" likely stands for "not a number" and is not relevant to the context of treatment for FSGS.
Compassionate Use Treatment: For Focal Segmental Glomerulosclerosis (FSGS) type 5, compassionate use and off-label or experimental treatments may include:

1. **Compassionate Use Treatments**:
- **Eculizumab**: A monoclonal antibody targeting the complement protein C5, used in cases unresponsive to standard treatments.
- **Sparsentan**: Combining angiotensin II receptor blockade and endothelin receptor antagonism, sparsentan is explored in clinical trials for its potential to reduce proteinuria and improve kidney function.

2. **Off-Label or Experimental Treatments**:
- **ACTH Gel (H.P. Acthar Gel)**: Used off-label to reduce proteinuria and inflammation.
- **Rituximab**: An anti-CD20 monoclonal antibody, commonly used in refractory cases, aiming to deplete B-cells thought to be involved in disease progression.
- **Abatacept**: A selective T-cell costimulation blocker, experimentally used to modulate the immune response.
- **Pioglitazone**: A PPAR-γ agonist, sometimes investigated for its potential renoprotective effects.
- **CRF01**: A synthetic peptide aiming to restore glomerular barrier function, currently in experimental stages.

These treatments should be considered only under the guidance of a nephrologist or a specialist in renal diseases, ideally within the framework of clinical trials or special access programs.
Lifestyle Recommendations: For individuals with focal segmental glomerulosclerosis (FSGS), the following lifestyle recommendations may help manage the condition:

1. **Dietary Changes:**
- **Low-Sodium Diet:** Reducing sodium intake can help control blood pressure and reduce swelling.
- **Protein Management:** Depending on kidney function, physicians may recommend limiting protein intake to reduce the kidneys' workload.
- **Healthy Fats:** Focus on consuming healthy fats, such as those found in fish, nuts, and olive oil, while avoiding trans fats and saturated fats.

2. **Fluid Intake:**
- Monitor and possibly limit fluid intake based on the doctor’s recommendations to avoid fluid retention.

3. **Exercise:**
- Engage in regular physical activity to maintain a healthy weight, reduce blood pressure, and improve overall cardiovascular health. Low-impact activities like walking and swimming are generally recommended.

4. **Blood Pressure Control:**
- Maintain a healthy blood pressure through diet, exercise, and possibly medication, as high blood pressure can worsen kidney function.

5. **Medication Adherence:**
- Take all prescribed medications as directed by a healthcare provider, including those for blood pressure control and any other medications aimed at managing FSGS.

6. **Avoiding NSAIDs and Other Nephrotoxic Substances:**
- Non-steroidal anti-inflammatory drugs (NSAIDs) and other substances that can harm the kidneys should be avoided unless specifically approved by a healthcare provider.

7. **Smoking Cessation:**
- If you smoke, quitting is essential as smoking can worsen kidney damage and overall health.

8. **Regular Monitoring:**
- Keep regular appointments with a healthcare provider to monitor kidney function and adjust treatment as necessary.

9. **Stress Management:**
- Use stress-reduction techniques such as meditation, yoga, or counseling to maintain mental health.

Please consult a healthcare provider for personalized recommendations based on individual health conditions.
Medication: For Focal Segmental Glomerulosclerosis (FSGS), there are several medications used to manage the condition, but there is no one-size-fits-all treatment. Some commonly prescribed medications include:

1. Corticosteroids (e.g., prednisone) - Often used as first-line therapy to reduce inflammation.
2. Calcineurin inhibitors (e.g., cyclosporine, tacrolimus) - Used to suppress the immune system.
3. Angiotensin-converting enzyme (ACE) inhibitors (e.g., lisinopril) or angiotensin II receptor blockers (ARBs) (e.g., losartan) - Help to control blood pressure and reduce proteinuria.
4. Immunosuppressive drugs (e.g., mycophenolate mofetil) - Used for patients who do not respond to steroids.
5. Diuretics - To manage edema.

Always consult a healthcare professional for personalized medical advice and treatment plans.
Repurposable Drugs: Focal Segmental Glomerulosclerosis 5 (FSGS5) is a genetic form of kidney disease. There is ongoing research into repurposable drugs, but current treatment options often focus on medications that manage symptoms and complications. These may include:

- **Corticosteroids**: To reduce inflammation and immune response.
- **Calcineurin inhibitors (e.g., cyclosporine, tacrolimus)**: To suppress the immune system.
- **ACE inhibitors or ARBs**: To control blood pressure and reduce proteinuria.
- **Statins**: To manage high cholesterol levels.
- **Diuretics**: To control swelling and fluid retention.

These treatments aim to slow disease progression and manage symptoms.
Metabolites: For focal segmental glomerulosclerosis (FSGS) type 5, specific metabolites directly associated with this condition are not well-documented. However, metabolic changes in FSGS can affect various biochemical pathways, including those related to lipid metabolism and extracellular matrix production. For precise metabolomic profiling, more detailed research and clinical diagnostics are recommended.
Nutraceuticals: There is limited evidence and research regarding the specific use of nutraceuticals in the management of focal segmental glomerulosclerosis (FSGS), including its subtype focal segmental glomerulosclerosis 5 (FSGS5). Nutraceuticals are foods or food products with potential health benefits, including prevention and treatment of disease. For FSGS, any potential nutraceutical interventions should be considered adjunctive and not primary treatments. Established treatments typically involve medications like corticosteroids or immunosuppressants, dietary modifications, and other medical interventions guided by a healthcare professional. Always consult with a healthcare provider before incorporating nutraceuticals into the management plan for FSGS5.
Peptides: Focal segmental glomerulosclerosis 5 (FSGS5) is a genetic form of kidney disease that affects the glomeruli. In the context of peptides, there isn't specific information directly linking peptide treatments to FSGS5. Treatment typically involves managing symptoms and slowing disease progression through medications like corticosteroids and immunosuppressants. Peptide-based interventions are not a standard approach for FSGS5 at this time. "Nan" or nanotechnology does not have established applications specifically for FSGS5 treatment currently. Research in nanomedicine is ongoing, with potential future applications in targeted drug delivery and diagnostics for various diseases, including kidney disorders.