Summary about Disease
Immotile Cilia Syndrome (ICS), also known as Primary Ciliary Dyskinesia (PCD), is a rare, inherited genetic disorder affecting the cilia lining the respiratory tract, sinuses, ears, and other organs. Cilia are tiny, hair-like structures that beat in a coordinated fashion to clear mucus and debris. In PCD, these cilia are either absent, malformed, or don't beat properly, leading to mucus buildup and recurrent infections.
Symptoms
Chronic or recurrent respiratory infections (bronchitis, pneumonia)
Chronic nasal congestion and runny nose
Chronic sinusitis
Ear infections (otitis media), often leading to hearing loss
Wet cough, producing mucus
Laterality defects (situs inversus - organs reversed or situs ambiguous - organs in abnormal locations) in about 50% of patients.
Infertility (in males due to immotile sperm; in females, reduced fertility)
Neonatal respiratory distress
Causes
PCD is a genetic disorder caused by mutations in genes responsible for the structure and function of cilia. It is typically inherited in an autosomal recessive pattern, meaning that both parents must carry a copy of the mutated gene for their child to inherit the disorder. Several genes are known to be associated with PCD, and mutations in different genes can lead to variations in the severity of the condition.
Medicine Used
Antibiotics: To treat bacterial infections in the lungs, sinuses, and ears.
Mucolytics: To thin and loosen mucus, making it easier to clear. Examples include hypertonic saline and dornase alfa (Pulmozyme).
Bronchodilators: To open up the airways and make breathing easier.
Nasal corticosteroids: To reduce inflammation in the nasal passages and sinuses.
Decongestants: to help with drainage and relieve sinus pressure.
Is Communicable
No, Immotile Cilia Syndrome (PCD) is not communicable. It is a genetic disorder and cannot be spread from person to person.
Precautions
Aggressive airway clearance: Regular chest physiotherapy (e.g., chest percussion, postural drainage, autogenic drainage) to help clear mucus from the lungs.
Nasal hygiene: Frequent nasal saline rinses to clear mucus from the nasal passages.
Avoidance of irritants: Avoiding exposure to tobacco smoke, air pollution, and other respiratory irritants.
Vaccinations: Staying up-to-date on vaccinations, including influenza and pneumococcal vaccines, to prevent respiratory infections.
Prompt treatment of infections: Seeking medical attention promptly at the first sign of infection to prevent complications.
Genetic Counseling: For families with a history of PCD, genetic counseling can help determine the risk of having a child with the disorder.
How long does an outbreak last?
Since PCD is a chronic condition, it does not have "outbreaks" in the traditional sense of an infectious disease. However, individuals with PCD experience recurrent respiratory infections and exacerbations of their symptoms. The duration of these infections varies depending on the severity and the effectiveness of treatment, and can last days, weeks, or in severe cases, longer.
How is it diagnosed?
Nasal Nitric Oxide (nNO) Measurement: People with PCD often have abnormally low levels of nNO.
High-Speed Video Microscopy: To assess ciliary beat frequency and pattern in a nasal or tracheal sample.
Electron Microscopy: To examine the ultrastructure of cilia and identify characteristic defects.
Genetic Testing: To identify mutations in genes known to be associated with PCD.
Saccharin Test: Measures how long it takes for a patient to taste saccharin placed in their nose. Those with PCD will take much longer than healthy people.
Bronchoalveolar lavage (BAL): To collect cells and fluid from the lungs for analysis.
Timeline of Symptoms
Neonatal Period: Respiratory distress, often requiring supplemental oxygen.
Infancy/Childhood: Recurrent respiratory infections (bronchitis, pneumonia), chronic nasal congestion and runny nose, chronic sinusitis, ear infections.
Adolescence/Adulthood: Chronic respiratory symptoms, bronchiectasis (permanent widening of the airways), infertility (in males). Symptoms are generally chronic and lifelong.
Important Considerations
Early diagnosis and management are crucial to minimize lung damage and improve quality of life.
Individuals with PCD require ongoing medical care and monitoring by a team of specialists, including pulmonologists, otolaryngologists, and geneticists.
Adherence to airway clearance therapies and prompt treatment of infections are essential for preventing complications.
Support groups and resources are available for individuals with PCD and their families.
Lung transplantation may be considered in severe cases of bronchiectasis.