Nephronophthisis 11
Disease Details
Family Health Simplified
- Description
- Nephronophthisis-11 is a rare genetic disorder characterized by progressive kidney failure due to the formation of fibrosis and cysts in the kidneys.
- Type
- Nephronophthisis-11 is an autosomal recessive genetic disorder.
- Signs And Symptoms
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Nephronophthisis-11 (NPH11) is a rare genetic disorder that primarily affects the kidneys. Below are the key signs and symptoms associated with NPH11:
- **Chronic kidney disease (CKD)**: Often leads to kidney failure, typically during adolescence or early adulthood.
- **Polyuria**: Excessive urination due to the inability of the kidneys to concentrate urine.
- **Polydipsia**: Excessive thirst as a result of fluid loss from polyuria.
- **Growth retardation**: Delayed growth and short stature.
- **Anemia**: Lower than normal red blood cell counts.
- **Hypertension**: Elevated blood pressure, especially as kidney function declines.
Other potential, though less common, symptoms can include:
- **Liver fibrosis**
- **Retinal degeneration**: Leading to vision problems.
- **Neurological issues**: Such as developmental delays or intellectual disability.
As this is a genetic condition, patients typically present with symptoms due to mutations in specific genes related to nephronophthisis. - Prognosis
- Nephronophthisis 11 (NPHP11) is a genetic disorder that primarily affects the kidneys, leading to progressive renal failure. The prognosis for individuals with NPHP11 typically involves a gradual deterioration of kidney function, often leading to end-stage renal disease (ESRD) during adolescence or early adulthood. The progression can vary depending on the specific genetic mutations and the presence of other associated symptoms or complications. Regular monitoring and supportive care, including potential kidney transplantation, can help manage the disease and improve quality of life.
- Onset
- Nephronophthisis type 11 (NPHP11) typically has an onset in childhood or adolescence. Symptoms usually begin to appear between the ages of 4 and 15 years.
- Prevalence
- The prevalence of nephronophthisis-11 (NPHP11) is currently not well-defined due to its rarity. Nephronophthisis itself is a rare genetic disorder that affects kidney function, typically leading to end-stage renal disease in childhood or adolescence. Specific prevalence data for NPHP11 is not available.
- Epidemiology
- Nephronophthisis-11 (NPHP11) is a rare, autosomal recessive genetic disorder characterized by progressive kidney failure that typically presents in childhood or adolescence. Its exact prevalence is not well-documented due to its rarity, but it is one form within the broader spectrum of nephronophthisis-related ciliopathies. Epidemiological data specific to NPHP11 is limited.
- Intractability
- Nephronophthisis-11 is a genetic disorder characterized by cystic kidney disease, typically progressing to end-stage renal disease. The term "intractable" refers to conditions that are difficult or impossible to manage with current treatments. While nephronophthisis-11 is currently not curable, management strategies can help alleviate symptoms and slow progression. Therefore, it might be considered intractable in terms of cure but manageable to some extent with appropriate treatment.
- Disease Severity
- Nephronophthisis-11 (NPHP11) is a form of nephronophthisis, a genetic disorder that affects the kidneys. The severity of this disease can vary among individuals but generally leads to chronic kidney disease and can progress to end-stage renal disease (ESRD). The timeframe for progression to ESRD can range from childhood to early adulthood.
- Healthcare Professionals
- Disease Ontology ID - DOID:0111118
- Pathophysiology
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Nephronophthisis-11 (NPHP11) is a rare genetic disorder affecting the kidneys, characterized by the following pathophysiology:
1. **Genetic Mutation**: NPHP11 is caused by mutations in the gene that encodes the protein TRAF3IP1. This gene plays a role in the normal functioning and signaling processes within kidney cells, particularly involving the cilia, which are hair-like structures on the surface of cells.
2. **Ciliary Dysfunction**: The mutations lead to defects in the cilia of renal tubular cells. Cilia are critical for cell signaling pathways and fluid regulation within the kidneys.
3. **Tubulointerstitial Nephritis**: Dysfunctional cilia result in chronic damage and inflammation of the kidney tubules and interstitial tissue, leading to the characteristic pathology of tubulointerstitial nephritis.
4. **Fibrosis and Cyst Formation**: Over time, this inflammation and damage cause fibrosis (scarring) of the kidney tissue and the development of small cortico-medullary cysts. The progressive loss of functional kidney tissue leads to a decline in kidney function.
5. **End-stage Renal Disease (ESRD)**: The condition eventually progresses to end-stage renal disease, usually during adolescence or early adulthood, necessitating dialysis or kidney transplantation.
The underlying mechanisms involve complex disruptions in cellular signaling and structural integrity due to ciliary dysfunction, emphasizing the importance of intact ciliary function for kidney health. - Carrier Status
- Nephronophthisis type 11 (NPHP11) is an autosomal recessive disorder. This means that a person must inherit two copies of the mutated gene, one from each parent, to manifest the disease. Being a carrier of one mutated gene does not typically result in symptoms.
- Mechanism
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Nephronophthisis-11 (NPHP11) is a form of nephronophthisis, a genetic disorder that primarily affects the kidneys. The disease mechanism and molecular mechanisms include:
### Mechanism
1. **Genetic Mutation**: NPHP11 is caused by mutations in the gene TMEM67, also known as Meckelin.
2. **Ciliary Dysfunction**: TMEM67 encodes a protein that is localized in the primary cilia and basal bodies of renal epithelial cells. Mutations in TMEM67 disrupt its normal function in these structures.
3. **Kidney Damage**: The defective protein affects cilia-dependent signaling pathways, leading to cyst formation, interstitial fibrosis, and progressive loss of kidney function.
### Molecular Mechanisms
1. **Disrupted Signaling Pathways**: TMEM67 mutations impede signaling pathways such as Hedgehog, Wnt, and planar cell polarity (PCP) pathways, which are crucial for kidney development and function.
2. **Ciliary Structure and Function**: TMEM67 is essential for maintaining the structural integrity and function of primary cilia. Mutations lead to defective ciliogenesis.
3. **Cellular Adhesion and Polarity**: The protein influences cellular adhesion and the polarized organization of renal epithelial cells, critical for nephron structure and function. Disruption in these processes contributes to tubular basement membrane thickening and renal cyst formation.
Understanding these mechanisms provides insight into how NPHP11 mutations ultimately result in renal disease, characterized by fibrosis, cysts, and kidney dysfunction. - Treatment
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Nephronophthisis type 11 (NPHP11) is a genetic disorder primarily affecting the kidneys and leading to chronic kidney disease. There is no specific cure for NPHP11, and treatment mainly focuses on managing symptoms and slowing disease progression. This may include:
1. **Supportive Care:** This involves strategies to maintain kidney function for as long as possible, such as blood pressure control and dietary modifications.
2. **Management of Complications:** Addressing complications like anemia, electrolyte imbalances, and growth delays.
3. **Renal Replacement Therapy:** This may become necessary as the disease progresses to end-stage renal disease. Options include dialysis or kidney transplant.
Gene therapy and other targeted treatments are areas of ongoing research but are not yet available for clinical application. Regular follow-ups with nephrologists and other specialists are crucial for monitoring and managing the condition effectively. - Compassionate Use Treatment
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Nephronophthisis 11 (NPHP11) is a rare genetic disorder that affects the kidneys and leads to chronic kidney disease. Because it is a rare condition, there may be ongoing research and experimental approaches to treatment. Here are some key points regarding compassionate use, off-label, or experimental treatments:
1. **Compassionate Use**:
- Compassionate use programs, also known as expanded access programs, allow patients with serious or life-threatening conditions to access investigational treatments outside of clinical trials when no comparable alternative therapies are available.
- For NPHP11, such programs would typically require approval from regulatory authorities and the drug manufacturer. Patients or healthcare providers can inquire about potential compassionate use for investigational therapies targeting genetic or renal protective mechanisms.
2. **Off-label Treatments**:
- Off-label use refers to the prescription of approved drugs for an indication, dosage, or patient population that is not included in the approved labeling by regulatory authorities.
- In the case of nephronophthisis, certain medications that manage symptoms or complications, such as hypertension, electrolyte imbalances, or anemia, might be used off-label to help manage the condition.
3. **Experimental Treatments**:
- Gene therapy or gene editing approaches could potentially offer future treatment options by targeting the specific genetic mutations responsible for NPHP11.
- Clinical trials investigating novel therapeutic agents, such as those aimed at modifying disease progression or targeting specific pathways involved in cystic kidney diseases, may also be relevant.
- Participation in clinical trials is a primary way to access experimental treatments, and patients can search for active trials through databases such as ClinicalTrials.gov or consult with their healthcare providers.
Consulting with a nephrologist or a genetic counselor specializing in rare kidney diseases can provide the most personalized and up-to-date information regarding treatment options for NPHP11. - Lifestyle Recommendations
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Nephronophthisis 11 (NPHP11) is a genetic disorder that affects the kidneys, leading to chronic kidney disease and often end-stage renal disease. For lifestyle recommendations to manage this condition, consider the following general advice:
1. **Regular Monitoring:** Regular follow-up with a nephrologist to monitor kidney function, blood pressure, and overall health is crucial.
2. **Diet and Nutrition:**
- **Fluid Intake:** Tailor fluid intake based on kidney function; consult your doctor for personalized advice.
- **Low Sodium Diet:** Reduce sodium intake to manage blood pressure and minimize fluid retention.
- **Protein Intake:** Moderate protein consumption to reduce kidney workload.
- **Balanced Diet:** Ensure a diet rich in fruits, vegetables, whole grains, and low-fat dairy.
3. **Manage Blood Pressure:** Maintain optimal blood pressure through diet, exercise, and medication if prescribed.
4. **Avoid Nephrotoxic Substances:** Steer clear of over-the-counter painkillers like NSAIDs, and avoid exposure to nephrotoxic substances.
5. **Hydration:** Maintain adequate hydration but avoid overhydration, as recommended by your physician.
6. **Exercise:** Engage in regular physical activity to maintain overall health, but avoid extreme exertion.
7. **Smoking and Alcohol:** Avoid smoking and limit alcohol consumption, as these can affect kidney health.
Always consult with healthcare providers for personalized recommendations and adjustments based on individual health status and progression of the disease. - Medication
- There is currently no specific medication for nephronophthisis-11 (NPHP11). Management typically focuses on alleviating symptoms and managing complications, such as kidney function deterioration. Patients may eventually require interventions like dialysis or a kidney transplant if end-stage renal disease (ESRD) develops. Regular monitoring and supportive treatments, such as blood pressure control and electrolyte management, are also crucial.
- Repurposable Drugs
- As of the current understanding, there are no specific repurposable drugs identified for nephronophthisis 11 (NPHP11). This rare genetic disorder mainly affects the kidneys and is part of a group of diseases called ciliopathies. Management primarily focuses on supportive care and addressing the renal insufficiency through measures like dialysis or kidney transplantation. Research is ongoing to identify potential therapeutic targets and repurposable drugs.
- Metabolites
- Nephronophthisis-11 (NPHP11) is a rare genetic disorder affecting kidney function. It is primarily characterized by the formation of cysts leading to kidney failure. The condition has been linked to mutations in the gene *NEK8*. Since specific metabolite data for NPHP11 is limited and not extensively documented in the literature, the general metabolic abnormalities in nephronophthisis may include electrolyte imbalances, uremic toxins like creatinine and urea, and other markers of impaired kidney function. Further detailed metabolic profiling specific to NPHP11 may require targeted biochemical studies.
- Nutraceuticals
- Currently, there are no specific nutraceuticals identified for the direct treatment or management of Nephronophthisis 11. This rare genetic kidney disease primarily involves supportive care and management of symptoms. For patient-specific guidance, please consult a medical professional.
- Peptides
- Nephronophthisis-11 (NPHP11) is associated with mutations in the gene known as TMEM67 (also called MKS3). Peptides or small proteins related to this gene are not typically used for standard diagnosis or treatment. Instead, molecular genetic testing is employed to identify mutations in TMEM67, confirming the diagnosis. If you need specific details on peptides associated with TMEM67, further research into specialized databases or scientific literature would be required. The term "nan" isn't clear in this context, please provide additional information if you meant something specific.