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primary ciliary dyskinesia 4
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Description
Primary Ciliary Dyskinesia (PCD) Description
Primary ciliary dyskinesia, also known as PCD, is a rare inherited disorder caused by defects in the structure and/or function of cilia. Cilia are tiny hair-like structures that help your body clear mucus from the respiratory system.
- Caused by defects in cilia: The condition is characterized by defects in the structure and/or function of cilia, which leads to impaired clearance of mucus from the respiratory system.
- Rare inherited disorder: PCD is a rare genetic condition that affects the body's ability to remove mucus, making it prone to chronic respiratory tract infections.
Key Points:
- Cilia are tiny hair-like structures that help clear mucus from the respiratory system.
- Defects in cilia lead to impaired clearance of mucus, causing chronic respiratory tract infections.
- PCD is a rare inherited disorder caused by genetic mutations affecting cilia structure and function.
[Citations] 1. [4] Primary ciliary dyskinesia (PCD) is a rare inherited disorder caused by defects in the structure and/or function of cilia. Cilia are tiny hair-like structures, ... 2. [4] ...caused by defects in the structure and/or function of cilia. 3. [1] PCD, or Primary ciliary dyskinesia, is a rare genetic condition that affects the body's ability to remove mucus. 4. [9] A rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease. Approximately half of the ...
Additional Characteristics
- or function of cilia.
- Cilia are tiny hair-like structures that help your body clear mucus from the respiratory system.
- PCD is a rare genetic condition that affects the body's ability to remove mucus, making it prone to chronic respiratory tract infections.
- Defects in cilia lead to impaired clearance of mucus, causing chronic respiratory tract infections.
- or function of cilia. Cilia are tiny hair-like structures, ...
- or function of cilia.
- PCD, or Primary ciliary dyskinesia, is a rare genetic condition that affects the body's ability to remove mucus.
- A rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease. Approximately half of the...
Signs and Symptoms
Symptoms of Primary Ciliary Dyskinesia
Primary ciliary dyskinesia (PCD) is a rare genetic disorder that affects the respiratory system and can cause various symptoms. The signs and symptoms of PCD are caused by abnormal cilia and flagella, which are microscopic, finger-like projections that stick out from the surface of cells.
Common Symptoms:
- Chronic coughing: A persistent and recurring cough is a common symptom of PCD [1].
- Chronic congestion of the nose and sinuses: People with PCD often experience long-term nasal congestion and sinusitis [2].
- A history of breathing problems in the first month of life: Infants with PCD may have difficulty breathing or show signs of respiratory distress shortly after birth [3].
- Situs inversus (abnormal rotation of organs): In some cases, people with PCD may experience an abnormal rotation of their internal organs, including the heart and lungs [4].
Other Possible Symptoms:
- Frequent sinus, ear, and lung infections
- Abnormal organ positioning
- Infertility
It's essential to note that these symptoms can vary in severity and may not be present in every individual with PCD. If you or a loved one is experiencing any of these symptoms, it's crucial to consult a healthcare professional for proper diagnosis and treatment.
References: [1] - #1: Chronic wet cough producing sputum, from infancy, that lasts for four weeks or longer [2] - #2: Primary ciliary dyskinesia, or PCD, causes symptoms in the sinuses, ears, and lungs. [3] - #5: A history of breathing problems in the first month of life ยท Situs inversus (abnormal rotation of ... [4] - #4: Apr 1, 2014 โ The signs and symptoms of this condition are caused by abnormal cilia and flagella . Cilia are microscopic, finger-like projections that stick ...
Additional Symptoms
- Chronic coughing
- Abnormal organ positioning
- Chronic congestion of the nose and sinuses
- Situs inversus (abnormal rotation of organs)
- Frequent sinus, ear, and lung infections
- infertility
- breathing problems
Diagnostic Tests
Diagnostic Tests for Primary Ciliary Dyskinesia
Primary ciliary dyskinesia (PCD) is a rare genetic condition that affects the body's ability to remove mucus. Diagnostic tests are essential to confirm a PCD diagnosis, as there is no single test that can definitively diagnose the condition.
- Physical Exam: A physical exam by a healthcare provider may be conducted to determine whether medical history and symptoms are consistent with primary ciliary dyskinesia.
- Biopsy of Tissue Containing Cilia: A tissue sample from the nose or lungs is taken and examined under a microscope to assess ciliary function. This test can help identify defects in cilia structure and/or function.
According to search result [4], diagnostic testing for patients suspected of primary ciliary dyskinesia often requires multiple lab tests to definitively diagnose PCD.
Genetic Tests: Genetic tests, such as those analyzing 40 genes for disease-causing variants (search result [6]), can also aid in the diagnosis of PCD. These tests provide information to help healthcare providers confirm a PCD diagnosis.
Diagnostic Testing Guidelines: The American Thoracic Society clinical practice guidelines for the diagnosis of primary ciliary dyskinesia (PCD) were published in 2018 (search result [11]). These guidelines aim to empower clinicians to interpret diagnostic recommendations and make informed decisions about testing.
Key Points
- Multiple lab tests are often required to definitively diagnose PCD.
- Genetic tests can be an important way to diagnose PCD, especially with the increasing affordability of genetic testing.
- A physical exam and biopsy of tissue containing cilia can help identify defects in ciliary function.
- The American Thoracic Society clinical practice guidelines provide evidence-based recommendations for diagnostic testing.
References:
[4] Diagnostic testing of patients suspected of primary ciliary dyskinesia. [6] Analyzes 40 genes for disease-causing variants. [11] Diagnosis of Primary Ciliary Dyskinesia: An Official American Thoracic Society Clinical Practice Guideline.
Additional Diagnostic Tests
- Physical Exam
- Genetic Tests
- Biopsy of Tissue Containing Cilia
Treatment
Treatment Options for Primary Ciliary Dyskinesia (PCD)
Primary Ciliary Dyskinesia (PCD) is a rare genetic disorder that affects the respiratory system, and there is no specific treatment to help the cilia work properly. However, various treatments can be used to improve lung function and limit disease progression.
Current Treatments
- Antibiotics: Antibiotics can be used to address lung or sinus infections, which are common complications of PCD.
- Chest Physical Therapy (CPT)
Recommended Medications
- Antibiotics
- Chest Physical Therapy (CPT)
๐ Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.
Differential Diagnosis
Differential Diagnosis of Primary Ciliary Dyskinesia
Primary ciliary dyskinesia (PCD) can be challenging to diagnose due to its overlapping symptoms with other diseases. Here are some key conditions that should be considered in the differential diagnosis of PCD:
- Cystic Fibrosis (CF): CF is a genetic disorder that affects the respiratory, digestive, and reproductive systems. Like PCD, CF can cause chronic respiratory infections and lung damage.
- Immune disorders: Certain immune disorders, such as primary immunodeficiency diseases, can also present with similar symptoms to PCD.
- Aspiration pneumonia: Aspiration pneumonia is a type of pneumonia caused by the inhalation of foreign material into the lungs. This condition can mimic some of the respiratory symptoms seen in PCD.
Key clinical symptoms in children:
- Year-round, wet cough starting <6 months old
- Year-round nasal congestion starting <6 months old
- Unexplained neonatal respiratory distress, >24 hours
These symptoms are often mistaken for common respiratory infections and can lead to delayed diagnosis of PCD.
References:
- [14] - Delayed diagnosis due to overlapping symptoms with other diseases.
- [4] - Key clinical symptoms in children that should be considered in the differential diagnosis of PCD.
Additional Differential Diagnoses
- Immune disorders
- aspiration pneumonia
- primary ciliary dyskinesia 1
- cystic fibrosis
Additional Information
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- A primary ciliary dyskinesia that is characterized by partial absence of the inner dynein arms with variable occurrence of situs inversus and has_material_basis_in variation in the chromosome region 15q13.1-q15.1.
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