Nephrotic Syndrome Type 12
Disease Details
Family Health Simplified
- Description
- Nephrotic syndrome type 12 is a genetic disorder characterized by excessive protein loss in the urine, leading to swelling and kidney dysfunction.
- Type
- Nephrotic syndrome type 12 is transmitted in an autosomal recessive manner.
- Signs And Symptoms
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Nephrotic syndrome type 12, a genetic disorder often associated with mutations in the genes coding for nephrin or podocin, primarily affects kidney function. The signs and symptoms typically include:
1. **Proteinuria**: High levels of protein in the urine.
2. **Hypoalbuminemia**: Low levels of albumin in the blood.
3. **Edema**: Swelling, often noticed in the legs, ankles, or around the eyes.
4. **Hyperlipidemia**: Elevated levels of lipids in the blood.
5. **Fatigue**: General feeling of tiredness or weakness.
6. **Foamy urine**: Due to excess protein.
If you require information on something else, please clarify. - Prognosis
- Nephrotic syndrome type 12 (NPHS12) is a genetic disorder caused by mutations in the COQ8B gene. Prognosis for patients with NPHS12 varies. Some individuals may respond well to treatment, while others can progress to end-stage renal disease requiring dialysis or kidney transplantation. Regular monitoring and medical management are essential to manage symptoms and complications.
- Onset
- The onset of nephrotic syndrome type 12 typically occurs in early childhood.
- Prevalence
- Nephrotic syndrome type 12 (NPHS12) is a rare genetic condition. Specific prevalence data is not commonly available in large-scale population studies due to its rarity.
- Epidemiology
- Epidemiology information for nephrotic syndrome type 12 (NPHS12) is not extensively documented. Nephrotic syndrome type 12 is a rare genetic condition caused by mutations in the KANK2 gene. Given its rarity, the exact prevalence and incidence rates are not well established. It typically presents in early childhood and shares common features with other forms of nephrotic syndrome, including proteinuria, hypoalbuminemia, hyperlipidemia, and edema.
- Intractability
- Nephrotic syndrome type 12 is considered a genetic disorder characterized by the presence of proteinuria, hypoalbuminemia, hyperlipidemia, and edema. While some cases of nephrotic syndrome can be managed with treatment, those caused by specific genetic mutations, such as type 12, are often more challenging to treat and may be less responsive to conventional therapies. Therefore, it can be considered intractable in the sense that standard treatment options might not effectively control the disease, necessitating alternative approaches and possibly leading to chronic kidney disease.
- Disease Severity
- Nephrotic syndrome type 12 is a rare, genetic form of nephrotic syndrome characterized by proteinuria, hypoalbuminemia, hyperlipidemia, and edema. The severity of the disease can vary significantly among individuals, ranging from mild to severe kidney dysfunction. Individuals may experience frequent relapses and may progress to end-stage renal disease (ESRD) requiring dialysis or kidney transplantation.
- Healthcare Professionals
- Disease Ontology ID - DOID:0080387
- Pathophysiology
- Nephrotic syndrome type 12 is a genetic form of nephrotic syndrome typically characterized by defects in the filtration barrier of the kidneys, specifically the podocytes. The main features include heavy proteinuria, hypoalbuminemia, hyperlipidemia, and edema. Mutations in the genes encoding proteins critical for podocyte function, such as COQ6, which is involved in the biosynthesis of coenzyme Q10, lead to the disruption of mitochondrial function and cellular energy metabolism, resulting in podocyte injury and subsequent protein leakage into the urine.
- Carrier Status
- Nephrotic syndrome type 12 is a genetic condition typically inherited in an autosomal recessive manner. Carrier status for this condition means that an individual carries only one copy of the mutated gene and usually does not exhibit symptoms of the disease. If both parents are carriers, there is a 25% chance with each pregnancy that the child will inherit two copies of the mutated gene and develop nephrotic syndrome type 12.
- Mechanism
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Nephrotic syndrome type 12 is a genetic disorder that affects kidney function and leads to excessive leakage of protein into the urine. The disease is often linked to mutations in the gene encoding phospholipase C epsilon 1 (PLCE1).
Mechanism:
1. Mutation in PLCE1 gene: Mutations in the PLCE1 gene impair the function of the encoded protein, which plays a crucial role in renal glomerular filtration barrier integrity.
2. Disrupted signaling pathways: PLCE1 participates in various intracellular signaling pathways, including those involved in cellular growth and differentiation.
3. Glomerular damage: Impairment in PLCE1 function due to mutations disrupts normal signaling, leading to damage to podocytes (specialized cells in the kidney's glomeruli), and ultimately causing the pathological leakage of protein into the urine.
Molecular Mechanisms:
1. Enzymatic activity reduction: Mutations in PLCE1 typically result in a loss or reduction of its enzymatic activity.
2. Altered cellular interactions: The decreased activity of PLCE1 affects the interaction of podocytes with the glomerular basement membrane.
3. Cytoskeletal organization: Disruption in PLCE1 signaling affects the cytoskeletal organization of podocytes, essential for maintaining the structural integrity of the filtration barrier.
4. Amplified cellular stress: These disruptions contribute to increased cellular stress and apoptosis of podocytes, exacerbating kidney damage and proteinuria.
Overall, the molecular mechanisms revolve around the detrimental impacts on the normal function and signaling pathways of PLCE1, leading to compromised kidney filtration and the clinical manifestations of nephrotic syndrome type 12. - Treatment
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Nephrotic syndrome type 12 treatment focuses on managing symptoms and preventing complications. Standard treatments might include:
1. **Corticosteroids:** Often the first line of treatment to reduce inflammation and proteinuria.
2. **Immunosuppressants:** Medications like cyclosporine or tacrolimus may be used if steroids are ineffective.
3. **ACE Inhibitors/ARBs:** These help reduce protein loss in urine and control blood pressure.
4. **Diuretics:** Used to reduce edema by removing excess fluid from the body.
5. **Dietary Modifications:** A low-sodium, low-protein diet may be recommended to manage symptoms.
6. **Statins:** Used to manage high cholesterol, which is common in nephrotic syndrome.
7. **Anticoagulants:** May be prescribed if there is a risk of blood clots.
Close monitoring and regular follow-ups with a healthcare provider are essential for managing the condition effectively. - Compassionate Use Treatment
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Nephrotic syndrome type 12 (NPHS12) is a genetic disorder characterized by proteinuria and typical features of nephrotic syndrome. For compassionate use or experimental treatments, the options may include:
1. **Sodium-Glucose Cotransporter-2 (SGLT2) Inhibitors**: Originally indicated for diabetes, these drugs are being explored for kidney protection due to their effects on reducing proteinuria and slowing the progression of kidney diseases.
2. **Endothelin Receptor Antagonists (ERAs)**: Drugs like sparsentan, which block endothelin receptors, are under investigation for their potential to reduce proteinuria and provide renoprotection.
3. **Monoclonal Antibodies**: Treatments such as rituximab, which targets CD20 on B cells, are being explored for their potential to induce remission in some forms of nephrotic syndrome.
Participation in clinical trials specific to nephrotic syndrome or genetic research for NPHS12 may also provide access to innovative treatments under investigation. It's important for patients and their healthcare providers to closely monitor any compassionate use or experimental therapies due to the potential for unforeseen side effects or lack of established efficacy. - Lifestyle Recommendations
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### Lifestyle Recommendations for Nephrotic Syndrome Type 12
1. **Dietary Modifications**:
- **Low Salt Intake**: Reducing salt intake can help control edema.
- **Adequate Protein**: Consult with a dietitian to determine the appropriate protein intake, as excessive protein can worsen kidney function.
- **Healthy Fats**: Focus on healthy fats like those from fish, nuts, and olive oil.
- **Monitor Caloric Intake**: Maintain a balanced diet to manage weight, as obesity can exacerbate symptoms.
2. **Fluid Management**:
- **Regulate Fluid Intake**: Your healthcare provider may recommend adjusting fluid intake based on your condition.
3. **Medication Adherence**:
- **Follow Prescriptions**: Strictly adhere to your prescribed medications, including steroids, immunosuppressants, and blood pressure medications.
4. **Blood Pressure Control**:
- **Monitor Regularly**: Keep a close watch on your blood pressure and manage it through lifestyle changes and medication.
5. **Exercise**:
- **Regular Physical Activity**: Engage in moderate exercise as advised by your healthcare provider to maintain overall health and manage weight.
6. **Avoid Infections**:
- **Hygiene**: Practice good hygiene to lower the risk of infections, which can trigger or worsen relapse.
- **Vaccinations**: Stay updated with vaccinations as recommended by your healthcare provider.
7. **Regular Medical Check-ups**:
- **Frequent Monitoring**: Regularly visit your healthcare provider for check-ups to monitor kidney function and overall health.
8. **Stress Management**:
- **Relaxation Techniques**: Engage in mindfulness, meditation, or other stress-reducing activities to help manage the condition more effectively.
These lifestyle recommendations can help manage symptoms and improve quality of life for those with Nephrotic Syndrome Type 12. Always consult with healthcare professionals for personalized advice and management plans. - Medication
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Nephrotic syndrome type 12 is a genetic form of nephrotic syndrome often associated with mutations in the COQ8B gene. While there's no cure, treatment typically focuses on managing symptoms and may include medications such as:
1. Corticosteroids (e.g., prednisone) to reduce inflammation.
2. Immunosuppressive agents (e.g., cyclophosphamide, cyclosporine) to reduce proteinuria.
3. ACE inhibitors or ARBs to control blood pressure and reduce protein loss in urine.
4. Diuretics to manage swelling.
Importantly, specific treatment plans should be personalized based on the patient's needs and response to therapy. Consult with a healthcare provider for tailored medical advice. - Repurposable Drugs
- Nephrotic syndrome type 12 is a rare genetic condition and there are no specific repurposable drugs known for it. The treatment generally involves management of symptoms and complications using drugs that are standard for nephrotic syndrome, such as corticosteroids, immunosuppressants, angiotensin-converting enzyme (ACE) inhibitors, or angiotensin receptor blockers (ARBs), diuretics, and statins. Emerging therapies and clinical trials could potentially offer new options in the future. Always consult a healthcare provider for personalized medical advice.
- Metabolites
- Metabolites refer to the small molecules involved in metabolism. "Nan" often stands for "not available" or "not applicable," indicating that specific detailed information about metabolites for Nephrotic Syndrome Type 12 may not be available. If you're looking for information on specific metabolites associated with this condition, data might be limited or not well-documented, necessitating further research or consultation with specialized sources.
- Nutraceuticals
- There are no specific nutraceuticals that are universally recommended for Nephrotic Syndrome Type 12. Management of this condition typically involves addressing the underlying causes and symptomatic treatment rather than relying on nutraceuticals. Always consult healthcare professionals for personalized advice and treatment options.
- Peptides
- Nephrotic syndrome type 12 (NPHS12) is a form of genetic nephrotic syndrome caused by mutations in the kidney-expressed genes that affect the glomerular filtration barrier. While there is ongoing research on various treatment modalities for nephrotic syndrome, including the use of peptides, specifics about therapeutic peptides for NPHS12 are still being studied. Nanotechnology, such as nanoparticles, holds promise for targeted drug delivery systems, which could potentially improve treatment outcomes for nephrotic syndrome, including NPHS12, by enabling more precise and efficient delivery of therapeutics directly to the kidneys.