Summary about Disease
Primary ciliary dyskinesia (PCD) is a rare, inherited disorder that causes defects in the structure and function of cilia. Cilia are tiny, hair-like structures that line the airways, sinuses, ears, and other organs. In PCD, the cilia don't beat properly, leading to impaired mucus clearance, chronic respiratory infections, and other health problems. It's a genetic condition typically manifesting in infancy or early childhood.
Symptoms
Common symptoms of PCD include:
Chronic nasal congestion and runny nose (rhinitis)
Chronic wet cough that starts soon after birth or in early childhood
Recurrent ear infections (otitis media)
Sinus infections (sinusitis)
Bronchiectasis (widening and scarring of the airways)
Infertility (in males and sometimes females)
Situs inversus (organs reversed; present in about 50% of cases)
Neonatal respiratory distress
Causes
PCD is caused by genetic mutations affecting the structure or function of cilia. It is typically inherited in an autosomal recessive pattern, meaning both parents must carry a copy of the mutated gene for their child to be affected. Many different genes can cause PCD.
Medicine Used
There is no cure for PCD, but treatment focuses on managing symptoms and preventing complications. Medications used include:
Antibiotics: To treat respiratory infections.
Mucolytics: To thin mucus and make it easier to clear. Examples include hypertonic saline, dornase alfa (Pulmozyme), and N-acetylcysteine (NAC).
Bronchodilators: To open up airways.
Anti-inflammatory medications: Such as inhaled corticosteroids, may sometimes be prescribed.
Flu vaccines and pneumonia vaccines.
Is Communicable
No, primary ciliary dyskinesia is NOT communicable. It is a genetic disorder, not an infectious disease. It cannot be spread from person to person.
Precautions
Precautions for individuals with PCD focus on managing symptoms and preventing infections:
Regular airway clearance techniques: Chest physiotherapy, high-frequency chest wall oscillation (The Vest), autogenic drainage.
Good hand hygiene: To prevent infections.
Avoiding irritants: Smoke, pollution, and allergens.
Staying hydrated: To thin mucus.
Prompt treatment of respiratory infections.
How long does an outbreak last?
PCD is not an infectious disease that has "outbreaks." It is a chronic, lifelong condition. Individuals with PCD experience ongoing symptoms, with the severity fluctuating depending on factors such as infections or environmental exposures. The duration of respiratory infections experienced by individuals with PCD can vary depending on the specific infection and the effectiveness of treatment.
How is it diagnosed?
Diagnosis of PCD can be complex and often involves several tests:
Nasal nitric oxide (nNO) measurement: PCD patients typically have very low nNO levels.
High-speed video microscopy: To assess ciliary beat frequency and pattern.
Electron microscopy: To examine the ultrastructure of cilia.
Genetic testing: To identify mutations in genes known to cause PCD.
Saccharin test: To assess mucociliary clearance time.
Bronchoscopy with biopsy: Cilia sample from the lungs is tested.
Timeline of Symptoms
While symptom onset varies, a typical timeline looks like this:
Newborn: Nasal congestion, respiratory distress, sometimes requiring oxygen support.
Infancy/Early Childhood: Chronic wet cough, frequent upper and lower respiratory infections, recurrent ear infections.
Childhood/Adolescence: Sinusitis, bronchiectasis may develop, nasal polyps.
Adulthood: Chronic respiratory symptoms, infertility (in some individuals). Symptoms are persistent but can fluctuate in severity over time.
Important Considerations
Early diagnosis and management are crucial to minimize lung damage and improve quality of life.
A multidisciplinary approach is recommended, involving pulmonologists, ENT specialists, infectious disease specialists, and physical therapists.
Genetic counseling is important for families with PCD to understand the inheritance pattern and risks of having another affected child.
Lung transplantation may be considered in severe cases of bronchiectasis that are not responsive to other treatments.