Primary Ciliary Dyskinesia 17
Disease Details
Family Health Simplified
- Description
- Primary ciliary dyskinesia 17 (PCD17) is a genetic disorder characterized by defects in the action of cilia lining the respiratory tract, leading to chronic respiratory infections, nasal congestion, and reduced fertility.
- Type
- Primary ciliary dyskinesia 17 (PCD17) is a genetic disorder characterized by defects in the action of cilia lining the respiratory tract, leading to respiratory issues. It follows an **autosomal recessive** pattern of genetic transmission.
- Signs And Symptoms
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Primary ciliary dyskinesia 17 (PCD17) is a type of primary ciliary dyskinesia, a genetic disorder affecting the action of cilia lining the respiratory tract, reproductive organs, and other areas.
**Signs and Symptoms:**
1. **Respiratory Issues:**
- Chronic respiratory infections
- Persistent cough
- Nasal congestion and sinusitis
- Bronchiectasis (permanent airway dilation)
2. **Ear and Hearing Problems:**
- Recurrent ear infections (otitis media)
- Hearing loss due to fluid buildup in the middle ear
3. **Reproductive System Problems:**
- Male infertility due to immotile sperm
- Female infertility or ectopic pregnancy risk due to reduced ciliary movement in fallopian tubes
4. **Additional Symptoms:**
- Situs inversus (organs on the opposite side of the body; occurs in about 50% of cases)
- Neonatal respiratory distress (difficulty breathing after birth)
- Chronic sinus infections
nan - Prognosis
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Primary Ciliary Dyskinesia 17 (PCD17) is a genetic disorder characterized by defects in the action of cilia lining the respiratory tract, leading to chronic respiratory tract infections, abnormal organ positioning, and other complications.
**Prognosis:** The prognosis for individuals with PCD17 can vary widely depending on the severity of symptoms and the effectiveness of management strategies. Regular medical follow-up and treatments such as airway clearance techniques, antibiotics for infections, and sometimes surgical interventions can help manage the condition. While there is no cure, many individuals can lead relatively normal lives with proper care, though chronic issues such as bronchiectasis may develop over time.
**Nan:** If "nan" refers to an unrelated condition or a term not applicable to PCD17, please specify for accurate information. If it's a typographical error, additional context would help provide a relevant response. - Onset
- Onset for primary ciliary dyskinesia 17 typically occurs in infancy or early childhood. Symptoms often become apparent within the first year of life.
- Prevalence
- The prevalence of Primary Ciliary Dyskinesia type 17 (PCD17) is not well-established and specific prevalence data are not available (nan). Generally, primary ciliary dyskinesia as a broader condition has an estimated prevalence of about 1 in 10,000 to 1 in 20,000 individuals worldwide. However, prevalence can vary by region and population.
- Epidemiology
- Primary ciliary dyskinesia (PCD) is a rare genetic disorder, and specific data on the prevalence of PCD type 17 (PCD17) is not widely documented independently. Generally, PCD affects about 1 in 10,000 to 1 in 40,000 people. The incidence might vary by region and population. PCD is characterized by chronic respiratory tract infections, abnormal ciliary function, and situs abnormalities. PCD17 is one of the several genetic variants responsible for the disorder. Most cases are inherited in an autosomal recessive manner, meaning two copies of the faulty gene are required to express the disease.
- Intractability
- Primary ciliary dyskinesia (PCD) is a genetic disorder affecting the cilia, which are tiny hair-like structures responsible for moving mucus and other substances in the respiratory tract, reproductive system, and other parts of the body. The condition is intractable in the sense that there is currently no cure. Management primarily involves symptomatic treatment to reduce infections and improve quality of life. This includes airway clearance techniques, medications to manage respiratory symptoms, and sometimes surgical interventions. Regular monitoring and comprehensive care can help manage complications and improve outcomes for individuals with PCD.
- Disease Severity
- Primary ciliary dyskinesia 17 (PCD17) is a genetic disorder that affects the structure and function of cilia, leading to chronic respiratory tract infections, sinusitis, and otitis media. The severity can vary but often includes recurrent respiratory infections, reduced lung function, and infertility in males. It may lead to serious respiratory issues over time, requiring comprehensive medical management.
- Healthcare Professionals
- Disease Ontology ID - DOID:0110621
- Pathophysiology
- Primary ciliary dyskinesia 17 (PCD17) is a genetic disorder affecting the structure and function of cilia, which are hair-like structures on the surface of certain cells. The primary issue in PCD17 is the abnormal motility of cilia due to defects in the genes responsible for their structure and function. This defect impairs the movement of cilia, interfering with their ability to clear mucus and debris from the respiratory tract, leading to chronic respiratory infections, sinusitis, and bronchiectasis. Additionally, it can affect cilia in other parts of the body, potentially leading to issues such as infertility, improper organ positioning, and chronic ear infections. The genetic mutation typically involved in PCD17 disrupts the normal composition and operation of the ciliary axoneme, a critical component of their motility function.
- Carrier Status
- Carrier status for primary ciliary dyskinesia 17 (PCD17) typically involves having one copy of a mutated gene linked to the condition. Carriers usually do not exhibit symptoms but can pass the mutated gene to their offspring. The disease follows an autosomal recessive inheritance pattern, meaning two copies of the mutated gene (one from each parent) are required for an individual to express the condition.
- Mechanism
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Primary ciliary dyskinesia 17 (PCD17) is a genetic disorder caused by mutations in the CCDC103 gene. This gene encodes a protein crucial for the proper assembly and function of motile cilia.
**Mechanism:**
PCD17 primarily affects the structure and function of cilia, which are hair-like structures on the surface of cells that beat in coordinated patterns to move fluid and particles across cellular surfaces. In PCD17, defective ciliary function leads to improper mucus clearance from the respiratory tract, recurrent respiratory infections, reduced fertility, and other related symptoms.
**Molecular mechanisms:**
Mutations in the CCDC103 gene result in defective or absent CCDC103 protein, which is essential for the assembly and stability of the dynein arms within cilia. Dynein arms are motor protein complexes that generate the force necessary for ciliary movement. Without functional dynein arms, cilia are either immotile or have severely impaired motility, leading to the clinical manifestations of PCD17. - Treatment
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Primary ciliary dyskinesia (PCD) is a genetic disorder affecting the function of cilia. Here's an overview of the treatment strategies for PCD:
1. **Airway Clearance Therapies**: Techniques such as chest physiotherapy, postural drainage, and the use of mechanical devices like oscillatory positive expiratory pressure (PEP) devices to help clear mucus from the lungs.
2. **Antibiotics**: Regular monitoring and early use of antibiotics for respiratory infections to prevent lung damage.
3. **Bronchodilators**: Inhaled medications that help open the airways, making it easier to breathe.
4. **Anti-Inflammatory Medications**: To reduce inflammation in the airways.
5. **Lung Transplantation**: In severe cases where lung function is significantly impaired.
Management requires multidisciplinary care, involving pulmonologists, respiratory therapists, and ENT specialists. Regular follow-up is critical to monitor lung function and prevent complications. - Compassionate Use Treatment
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For Primary Ciliary Dyskinesia (PCD), including the subtype primary_ciliary_dyskinesia_17, compassionate use and experimental treatments might be considered under specific circumstances. Here are some options that could be explored:
1. **Compassionate Use Treatments:**
- **Inhaled Antibiotics:** While not specifically approved for PCD, inhaled antibiotics like tobramycin or colistin could be used for managing chronic respiratory infections.
- **Ivacaftor:** Though approved for cystic fibrosis with specific mutations, there are investigations into its use for some forms of PCD.
- **Gene Therapy:** Experimental gene therapy approaches are being tested, though they are not yet widely available.
2. **Off-label Treatments:**
- **Azithromycin:** Commonly used off-label as an anti-inflammatory and antimicrobial agent to reduce the frequency and severity of respiratory infections.
- **Hypertonic Saline:** Inhalation therapy to improve mucus clearance, also used off-label to manage respiratory symptoms.
- **DNase (Dornase Alfa):** Although primarily used for cystic fibrosis, it may be considered off-label to help with mucus breakdown in PCD.
3. **Experimental Treatments (Clinical Trials):**
- **Small Molecule Modulators:** Investigational drugs aimed at targeting specific defects in ciliary function.
- **Gene Editing Techniques:** Emerging CRISPR-based approaches looking to correct genetic mutations causing PCD.
Patients interested in these options should consult with a specialist who can provide guidance based on the latest research and their specific medical condition. - Lifestyle Recommendations
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Primary Ciliary Dyskinesia 17 (PCD 17) is a genetic disorder that affects the function of cilia, leading to respiratory and other health issues. Lifestyle recommendations for individuals with PCD 17 include:
1. **Airway Clearance Techniques**: Regular use of techniques such as chest physiotherapy or devices like a positive expiratory pressure (PEP) mask to help clear mucus from the lungs.
2. **Healthy Diet**: Maintaining a balanced diet to support overall health and reduce infections. Staying hydrated is also crucial to keep mucus thinner and easier to expel.
3. **Exercise**: Engaging in regular physical activities to enhance lung function and overall fitness. Activities like swimming or cycling can be particularly beneficial.
4. **Avoid Smoking and Pollutants**: Staying away from cigarette smoke and other air pollutants to prevent aggravation of respiratory symptoms.
5. **Infection Control**: Practicing good hygiene, such as regular hand washing and avoiding close contact with sick individuals to reduce the risk of respiratory infections. Keeping up with vaccinations, including flu and pneumonia vaccines, is also recommended.
6. **Regular Medical Care**: Frequent check-ups with healthcare providers who specialize in PCD to monitor and manage the condition effectively.
These lifestyle adjustments can help manage symptoms and improve quality of life for individuals with PCD 17. - Medication
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Primary Ciliary Dyskinesia (PCD) 17 is a subtype of PCD, a genetic disorder affecting the cilia, leading to respiratory and other systemic issues. Currently, there is no specific medication to cure PCD 17. Treatment generally focuses on managing symptoms and may include:
1. Antibiotics: To treat or prevent respiratory infections.
2. Bronchodilators: To open the airways and ease breathing.
3. Mucolytics: To thin mucus and make it easier to expel.
4. Physiotherapy: To help clear mucus from the lungs.
Nanotechnology does not have a standard application in treating PCD 17 at this time. - Repurposable Drugs
- Currently, there are no specific repurposable drugs identified for primary ciliary dyskinesia 17 (PCD17). This disorder is a genetic condition affecting the structure and function of cilia, leading to chronic respiratory tract infections, abnormal organ positioning, and other complications. Management typically involves symptomatic treatments such as airway clearance therapies, antibiotics for infections, and regular monitoring. The focus remains on symptomatic relief and improving quality of life.
- Metabolites
- Primary Ciliary Dyskinesia 17 (PCD17) affects the function of cilia, impairing mucus clearance and leading to respiratory issues, sinusitis, and potentially affecting other systems. Metabolite information specific to PCD17 is not well-documented with available data showing no distinct metabolic biomarker profiles for the condition. The focus of PCD diagnostics remains primarily on genetic, ultrastructural, and functional studies rather than metabolic profiling.
- Nutraceuticals
- Currently, there are no established nutraceutical therapies specific to primary ciliary dyskinesia (PCD), including PCD17. Management is typically focused on controlling infections, improving airway clearance, and maintaining overall respiratory health through conventional medical approaches rather than nutraceuticals. Always consult a healthcare provider before starting any new treatment.
- Peptides
- Primary ciliary dyskinesia 17 (PCD17) is a genetic disorder affecting the structure and function of cilia. It leads to chronic respiratory tract infections, impaired mucociliary clearance, and other complications due to malfunctioning cilia. PCD17 specifically refers to mutations affecting the DNAH11 gene. Research on therapeutic peptides for this condition is still in early stages, and more work is needed to develop effective treatments. Nanotechnology's role in PCD17 is also an evolving field, with potential applications in targeted delivery of therapeutics or diagnostics but currently remains largely experimental.