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Nephronophthisis 12

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Description: Nephronophthisis_12 is a rare genetic disorder characterized by progressive kidney dysfunction leading to end-stage renal disease, typically during adolescence.
Type: Nephronophthisis 12 is a genetic disorder characterized by kidney dysfunction. It is inherited in an autosomal recessive pattern.
Signs And Symptoms: Signs and symptoms of nephronophthisis-12 (NPHP12) can include:

1. **Polyuria and Polydipsia**: Increased urine output and excessive thirst due to decreased kidney concentrating ability.
2. **Growth Retardation**: Poor growth in children due to chronic kidney disease.
3. **Anemia**: Due to reduced erythropoietin production by the failing kidneys.
4. **Hypertension**: High blood pressure may develop as kidney function declines.
5. **Renal Cysts**: Small cysts primarily in the corticomedullary junction of the kidneys.
6. **End-stage Renal Disease (ESRD)**: Progressive kidney failure typically leading to ESRD in adolescence or early adulthood.

Other symptoms can vary, including potential extrarenal manifestations such as retinal degeneration, liver fibrosis, and skeletal anomalies, depending on the specific genetic mutation involved.
Prognosis: Nephronophthisis 12 (NPHP12) is a genetic disorder primarily affecting kidney function. The prognosis for individuals with NPHP12 generally involves a progressive decline in kidney function, leading to end-stage renal disease (ESRD) typically in adolescence or early adulthood. Management often includes supportive care and, eventually, renal replacement therapy such as dialysis or kidney transplantation. The progression can vary based on the specific genetic mutation and other individual factors.
Onset: Nephronophthisis 12 typically has an onset in childhood or adolescence. The term "nan" is not applicable in this context for providing relevant information about the disease.
Prevalence: The prevalence of NPHP12 (nephronophthisis type 12) is extremely rare and not well-defined due to its rarity. Nephronophthisis itself has an estimated prevalence of 1 in 50,000 to 100,000 individuals. However, specific data for NPHP12 is not readily available due to the limited number of reported cases.
Epidemiology: Nephronophthisis-12 (NPHP12) is a rare genetic disorder that primarily impacts kidney function, leading to end-stage renal disease. The specific epidemiology for NPHP12 is not well-defined due to its rarity, but nephronophthisis in general is considered a leading genetic cause of kidney failure in children and adolescents. It is inherited in an autosomal recessive manner, meaning both copies of the responsible gene must be altered for the disease to manifest.
Intractability: Nephronophthisis-12 (NPHP12) is considered intractable, meaning it is a chronic condition that is difficult to manage and treat effectively. This genetic disorder primarily affects the kidneys, leading to progressive renal failure. There is currently no cure, and treatment mainly focuses on managing symptoms and complications, including eventual kidney transplantation for end-stage renal disease.
Disease Severity: Nephronophthisis type 12 (NPHP12) is a severe autosomal recessive kidney disorder. It often leads to end-stage renal disease (ESRD) in childhood or adolescence. The disease is characterized by corticomedullary cysts, tubular basement membrane disruption, and progressive renal failure.
Healthcare Professionals: Disease Ontology ID - DOID:0111119
Pathophysiology: Nephronophthisis_12 (NPHP12) is a genetic disorder characterized by a particular form of chronic kidney disease, typically manifesting in childhood or adolescence. The pathophysiology of NPHP12 involves mutations in the TTC21B gene, which encodes the protein IFT139, a component of the intraflagellar transport (IFT) complex.

The IFT complex is crucial for the proper functioning and maintenance of cilia, which are hair-like structures on the surface of cells, including kidney epithelial cells. In NPHP12, defective cilia lead to impaired cell signaling and dysregulated cellular processes, ultimately resulting in kidney tubular basement membrane disruption and kidney fibrosis. The progressive degeneration of the kidney tubules culminates in end-stage renal disease (ESRD).

In summary, the pathophysiology of NPHP12 involves TTC21B gene mutations affecting IFT139 function, leading to ciliary dysfunction, tubular basement membrane disruption, kidney fibrosis, and progression to ESRD.
Carrier Status: Carrier status for Nephronophthisis 12 refers to individuals who have inherited one copy of a mutated gene associated with the condition but do not exhibit symptoms of the disease themselves. They can, however, pass the mutation to their offspring.
Mechanism: Nephronophthisis 12 (NPHP12) is a rare genetic disorder primarily affecting the kidneys, leading to chronic kidney disease.

**Mechanism:**
NPHP12 involves the progressive loss of kidney function due to the formation of cysts at the cortico-medullary junction, interstitial fibrosis, and tubular basement membrane disruption. The disease typically manifests in childhood or adolescence.

**Molecular Mechanisms:**
NPHP12 is caused by mutations in the TTC21B gene, which encodes the protein IFT139. This protein is part of the intraflagellar transport (IFT) complex, crucial for cilia function and structure. Defective IFT139 leads to dysfunctional ciliary transport, impairing cilia's sensory and signaling roles. As a result, signaling pathways critical for kidney development and maintenance, including the Hedgehog, Wnt, and PDGF pathways, are disrupted, contributing to the nephron degeneration and cyst formation characteristic of the disease.
Treatment: Nephronophthisis type 12 (NPHP12) is a rare genetic disorder that primarily affects the kidneys, leading to chronic kidney disease. As of now, there is no cure for nephronophthisis, and treatment focuses on managing symptoms and slowing disease progression.

1. **Supportive Care:** This includes maintaining electrolyte balance, controlling blood pressure, and addressing any other complications that arise.
2. **Dietary Management:** A kidney-friendly diet low in sodium, phosphorus, and protein can help manage symptoms and reduce kidney workload.
3. **Dialysis:** As kidney function declines, dialysis may become necessary to perform the filtering functions of the kidneys.
4. **Kidney Transplant:** In advanced stages, a kidney transplant may be considered the most effective treatment option.

Ongoing research is focused on understanding the genetic basis of this disease, which may lead to future targeted therapies.
Compassionate Use Treatment: Nephronophthisis type 12 (NPHP12) is a genetic disorder affecting kidney function. As of now, there are no established compassionate use treatments specifically for NPHP12. The disease is primarily managed through supportive care, which may include interventions like controlling blood pressure, managing electrolyte balance, and eventually preparing for dialysis or kidney transplantation if renal failure occurs.

Regarding off-label or experimental treatments, research is ongoing in the field of genetic and molecular therapies. Potential experimental approaches may involve gene therapy or targeted molecular treatments aimed at addressing the underlying genetic mutations. Participation in clinical trials investigating such treatments might be an option for patients.

It is essential for patients and their caregivers to consult with a nephrologist or a healthcare provider specializing in genetic kidney diseases to explore the most current treatment options and available clinical trials.
Lifestyle Recommendations: Nephronophthisis_12 is a genetic disorder characterized by kidney problems that can lead to renal failure. While there are no specific lifestyle recommendations that can cure or stop the progression of nephronophthisis_12, there are general guidelines that can help manage the condition and support overall kidney health:

1. **Regular Monitoring**: Regular follow-ups with a nephrologist to monitor kidney function and manage any complications.

2. **Hydration**: Adequate fluid intake is essential to maintain kidney function, but fluid restrictions may be required as the disease progresses.

3. **Dietary Management**: A diet low in sodium, potassium, and phosphorus may be recommended. Protein intake might also be limited to reduce the burden on the kidneys.

4. **Avoid Nephrotoxic Substances**: Avoid medications and substances that can cause further damage to the kidneys, like certain pain relievers and alcohol.

5. **Exercise**: Regular physical activity can help maintain overall health, but it should be tailored to the individual's capabilities and medical advice.

6. **Blood Pressure Control**: Manage blood pressure through diet, exercise, and medication if necessary, as hypertension can worsen kidney damage.

7. **Support**: Psychological and social support can help address the emotional challenges of living with a chronic condition.

Always work closely with healthcare providers to tailor these recommendations to the specific needs and progression of the disease.
Medication: For nephronophthisis type 12 (NPHP12), there is currently no specific medication to cure or halt the progression of the disease. Management primarily focuses on supportive care to handle symptoms and slow the progression of kidney failure. This involves:

1. Monitoring and managing electrolyte imbalances.
2. Treating hypertension if present.
3. Ensuring adequate nutritional support.
4. Preparing for eventual renal replacement therapies such as dialysis or kidney transplantation as the disease progresses.

Patients should be managed by a multidisciplinary team including nephrologists, geneticists, and other specialists as needed.
Repurposable Drugs: For nephronophthisis type 12 (NPHP12), there are no well-established repurposable drugs currently identified. Nephronophthisis is a genetic disorder that leads to chronic kidney disease, and NPHP12 is caused by mutations in the gene TMEM218. Management typically focuses on symptomatic treatment and supportive care, including renal replacement therapy for end-stage renal disease. Clinical trials and research may offer new insights in the future.
Metabolites: Nephronophthisis type 12 (NPHP12) is a rare genetic disorder affecting the kidneys, leading to their progressive failure. Specific metabolomic profiles associated with NPHP12 are not well-characterized due to its rarity and complexity. However, general metabolomic disturbances related to nephronophthisis may include abnormalities in electrolytes, urea, creatinine, and other markers of kidney function, as these patients typically experience renal fibrosis and impairments in the kidney's filtering capacity. Further research would be needed for a detailed metabolomic analysis specific to NPHP12.
Nutraceuticals: There are no established nutraceutical treatments specifically for Nephronophthisis type 12 (NPHP12). This rare genetic disorder primarily affects the kidneys, leading to chronic kidney disease. Management typically includes supportive care, such as controlling hypertension and treating anemia, as well as planning for renal replacement therapy. Nutraceuticals or nutritional supplements have not been proven to alter the disease course for NPHP12. Always consult with a healthcare provider for personalized advice.
Peptides: Nephronophthisis type 12 (NPHP12) is a rare genetic disorder affecting the kidneys. It is caused by mutations in the TMEM67 gene. Peptides and nanoparticles are areas of research interest for potential therapeutic applications, but as of now, there is no established treatment involving these modalities specifically for NPHP12. Management primarily focuses on supportive care and addressing kidney dysfunction, with kidney transplantation being a common intervention in end-stage renal disease.