What is primary ciliary dyskinesia?
The airways, sinuses and middle ears are lined with millions of microscopic hair-like structures called cilia. They beat in a coordinated way to sweep mucus, dust and germs out of the airways. In primary ciliary dyskinesia (PCD), an inherited defect means the cilia are absent, immobile or beat abnormally, so mucus builds up and infections recur.
Over time, repeated infection damages the airways and causes bronchiectasis. Cilia also guide the position of organs during development, so about half of people with PCD have their organs reversed left to right (situs inversus). The combination of situs inversus, chronic sinusitis and bronchiectasis is known as Kartagener syndrome.
PCD is rare and is often diagnosed late, after years of being labelled as recurrent colds, asthma or chronic bronchitis. Because symptoms begin in infancy, children are managed jointly with paediatric pulmonology and ENT, with care continuing into adult services.
Symptoms of PCD
Symptoms typically begin soon after birth and persist throughout life:
- Breathing difficulty in a full-term newborn that needs oxygen or admission, without an obvious cause
- Daily wet cough from infancy that never fully clears between colds
- Year-round blocked or runny nose from early infancy, and chronic sinusitis
- Recurrent ear infections and glue ear, sometimes with hearing loss
- Repeated chest infections and later bronchiectasis
- Reduced fertility in adulthood, especially in men
An unexplained wet cough every day from infancy, with a permanently runny nose, is a strong clue and should prompt testing.
Causes and inheritance
PCD is caused by variants in one of more than 50 genes that build or control the cilia. It is usually inherited in an autosomal recessive pattern: both parents are healthy carriers, and each child has a one-in-four chance of being affected. The condition is more common in families where parents are related by blood, which is relevant in some communities in India.
How PCD is diagnosed
No single test detects every form of PCD, so the ERS guideline recommends a combination of tests, ideally performed in a centre with experience.
| Test | What it shows |
|---|---|
| Nasal nitric oxide | Very low levels in most patients. A quick, painless screening test from about age five |
| High-speed video microscopy | How cilia from a nasal brushing beat: their pattern and frequency |
| Transmission electron microscopy | Structural defects in the cilia |
| Genetic testing | Disease-causing variants in PCD genes. Also guides family counselling |
| CT chest | Bronchiectasis, typically in the middle and lower lobes |
| Sputum culture and spirometry | Bacteria present and baseline lung function |
Other causes of chronic wet cough and bronchiectasis, particularly cystic fibrosis and immune deficiency, are excluded in parallel. In adults with bronchiectasis of unknown cause, PCD testing is considered where the history fits.
PCD treatment
There is currently no treatment that restores normal ciliary function, so care focuses on keeping the airways clear and treating infection early.
Airway clearance
Daily physiotherapy techniques, taught by a respiratory physiotherapist, are the foundation of treatment. Regular physical activity and sport help loosen mucus. Inhaled hypertonic saline may be added for thick secretions.
Treating infection
Chest infections are treated promptly with antibiotics guided by regular sputum cultures. Long-term azithromycin reduces exacerbations in patients with frequent infections, and Pseudomonas infection may be treated with eradication courses or inhaled antibiotics.
Ear, nose and sinus care
Nasal saline rinses, management of glue ear and hearing support, and sinus surgery in selected cases are coordinated with ENT surgeons. Ventilation tubes in the ear drum are used cautiously in PCD.
Other care
Vaccinations, avoidance of tobacco smoke, and fertility counselling for adults complete the plan. Rarely, patients with very advanced lung disease are referred for transplant assessment.
Outlook and living with PCD
Most people with PCD lead active lives, study, work and have families. Lung function tends to decline slowly, and early diagnosis with consistent airway clearance and prompt treatment of infections helps protect the lungs. Regular review every three to six months, with sputum culture, spirometry and hearing checks in children, is recommended. Siblings of an affected child should be assessed.
When to seek urgent care
Seek urgent medical attention for breathlessness at rest, high fever with a marked increase in cough and sputum, coughing up blood, chest pain, blue lips, or drowsiness. In infants, fast breathing, poor feeding or pauses in breathing need same-day assessment.
Frequently asked questions
Is primary ciliary dyskinesia the same as cystic fibrosis?
No. Both cause chronic wet cough and bronchiectasis, but they are different genetic conditions with different tests. PCD affects the cilia, whereas cystic fibrosis affects salt and water transport and also involves the pancreas.
What is Kartagener syndrome?
Kartagener syndrome is the combination of PCD with situs inversus, in which the heart and other organs lie on the opposite side of the body. It occurs in about half of people with PCD.
Can adults be diagnosed with PCD?
Yes. Many people are diagnosed only in adulthood after years of chronic cough, sinusitis or bronchiectasis. Testing is worthwhile when symptoms date back to early childhood.
Will my child grow out of PCD?
No. PCD is a lifelong genetic condition, but with daily airway clearance and prompt treatment of infections most children grow up to lead active lives.
Does PCD affect fertility?
Many men with PCD are infertile because sperm tails share the same structure as cilia, and some women have reduced fertility. Assisted reproduction can help, and counselling is offered.
Should brothers and sisters be tested?
Yes. Because PCD is inherited, siblings of an affected child have a one-in-four chance of having it and should be assessed, especially if they have a chronic cough or runny nose.
Related conditions and procedures
Consult Dr. Gogineni Ratnakara Rao
Apollo Hospitals, Financial District: Monday to Saturday, 8:30 AM to 5:00 PM. Anything in Lung Clinic, Chanda Nagar: Monday to Saturday (Thursday closed), 6:00 PM to 9:00 PM.