Primary ciliary dyskinesia (PCD) is an autosomal recessive condition affecting the cilia on the surface of cells. It is more common with consanguinity, where the parents are related (e.g., cousins), which increases the risk of a child having two copies of the same genetic mutation.
PCD causes dysfunction of the motile cilia around the body, most notably in the respiratory tract. It leads to a mucus buildup in the lungs, creating a favourable environment for infection. It has a similar respiratory presentation to cystic fibrosis, with frequent and chronic chest infections, impaired growth and bronchiectasis.
It also affects the cilia in the fallopian tubes of females and the sperm tails (flagella) in males, leading to reduced or absent fertility. There is a higher risk of ectopic pregnancy in affected females.
Kartagener’s Triad
Kartagner’s triad involves three features associated with primary ciliary dyskinesia. Not all patients will have all three features. The features are:
- Paranasal sinusitis
- Bronchiectasis
- Situs inversus
Situs Inversus
Situs inversus is a condition where the organs in the chest and abdomen are reversed. The heart is on the right, the stomach is on the right, and the liver is on the left. Dextrocardia refers to when only the heart is reversed.
Around 20% of patients with situs inversus have primary ciliary dyskinesia. Around 50% of patients with primary ciliary dyskinesia have situs inversus.
Situs inversus alone does not cause problems. There may be associated congenital heart defects, such as transposition of the great arteries.
Presentation
Presenting features include:
- Neonatal respiratory distress
- Chronic wet cough
- Recurrent lower respiratory tract infections
- Chronic sinusitis
- Recurrent otitis media
Diagnosis
Family history and consanguinity in the parents are relevant in the history.
Examination and imaging (e.g., chest x-ray) can diagnose situs inversus.
A ciliated epithelium sample is required to examine the cilia’s action under a microscope and establish the diagnosis. This can be obtained through nasal brushing or bronchoscopy.
Management
Management involves regular chest physiotherapy and antibiotics (e.g., azithromycin).
Last updated February 2025
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