Respiratory - Primary Ciliary Dyskinesia Flashcards
What is primary cilary dyskinesia also known as?
Kartagner’s syndrome
What is primary ciliary dyskinesia?
Autosomal recessive condition, affecting cilia of various cells
What increases the chance of primary ciliary dyskinesia?
Consanguinity
Increased risk of child having two copies of same recessive genetic mutation
What does PCD cause?
Dysfunction of motile cilia around the body
- Respiratory tract
- Fallopian tubes
- Flagella of sperm
What does dysfunction of cilia lead to in the respiratory tract?
Buildup of mucus in the lungs
Frequent and chronic chest infections
Poor growth
Bronchiectasis
What can dysfunction of cilia in the falopian tubes and sperm lead to?
High risk of ectopic pregnancy
- Egg stays stuck in fallopian tube
- If fertilised can lead to ectopic pregnancy
Dysmotile flagella
- Reduced or absent fertility
What is primary ciliary dyskinesia strongly linked to?
Situs inversus
What is Kartagner’s Triad?
Not all patients will have all 3 features
Paranasal sinusitis
Bronchiectasis
Situs inversus
What is situs inversus?
Condition where all internal organs are mirrored inside
Heart is on the right, stomach on the right and liver on left
What is dextrocardia?
When only the heart is reversed
What is the chance that patients with situs inversus will have PCD?
25% of patients with situs inversus will have PCD
50% of patients with PCD have situs inversus
How is PCD diagnosed?
- Patients have recurrent respiratory tract infections
- Family history of consanguinity in parents
- CXR to diagnose situs inversus
- Semen analysis for male infertility
- Sample of ciliated epithelium of upper airway and examine action of cilia
How are samples of ciliated epithelium obtained?
Nasal brushing
Bronchoscopy
Often need several samples
How is PCD managed?
Daily phsyiotherapy
High calorie diet
Antibiotics
Prophylactic vaccinations
