PCD Flashcards
What is the triad of Kartagener Syndrome?
situs inversus totalis, chronic sinusitis, bronchiectasis
Kartagener Syndrome is characterized by these three conditions, which are related to defects in ciliary function.
What type of inheritance is associated with Primary Ciliary Dyskinesia (PCD)?
autosomal recessive
This genetic pattern indicates that two copies of the mutated gene must be present for the condition to manifest.
What type of epithelium is important for mucociliary clearance?
ciliated, pseudostratified columnar epithelium
This type of epithelium lines the large airways, nasopharynx, paranasal sinuses, and middle ear.
How many cilia do mature respiratory ciliated cells contain?
approximately 200 cilia
These cilia are uniform in size with an average length of 6 μm.
What is the normal beat frequency of human cilia?
ranges between 8 and 14 Hertz
This frequency can vary, being quicker in proximal airways and faster in young children.
What are the two phases of ciliary motion?
effective stroke phase, recovery phase
The effective stroke phase propels mucus forward, while the recovery phase resets the cilia.
What is a distinctive feature of PCD?
daily, year-round productive (wet) cough
This symptom typically begins in infancy and is a key indicator of the condition.
What condition is characterized by low nasal nitric oxide (NO) levels?
Primary Ciliary Dyskinesia (PCD)
Nasal NO levels in most PCD patients are extremely low (5%–15% of normal).
What is the common respiratory symptom in infants with PCD?
neonatal respiratory distress
This symptom typically develops within 12–24 hours after birth.
What are common bacterial cultures found in PCD patients?
- nontypable Haemophilus influenzae
- Staphylococcus aureus
- Streptococcus pneumoniae
- Pseudomonas aeruginosa
These pathogens are often identified in sputum and bronchial washings.
What is the prognosis for individuals with PCD?
Chronic lung disease with bronchiectasis and variable progression
Some individuals may experience a normal life span, while others develop severe lung disease early.
What is a common complication of PCD in males?
male infertility
This is due to impaired sperm motility caused by ciliary dysfunction.
What is required for the definitive diagnosis of PCD?
involvement of specialized centers with expertise in clinical features and tests for ciliary motility
Tests include transition electron microscopy and nasal NO measurement.
What are the common management strategies for PCD?
- enhance clearance of mucus
- prevent respiratory infections
- treat bacterial superinfections
These strategies do not correct ciliary dysfunction but help manage symptoms.
What type of surgical intervention might be indicated for PCD patients?
lobectomy for localized bronchiectasis or atelectasis
This may reduce chronic infection risk in affected areas.
What is the significance of situs inversus totalis in PCD?
occurs in 50% of patients and is due to dysfunction of embryonic nodal cilia
This condition affects the normal rotation of internal organs.
What are common findings on chest X-ray for PCD?
- lung hyperinflation
- bronchial wall thickening
- segmental atelectasis/consolidation
- situs inversus
- bronchiectasis
These findings help differentiate PCD from other chronic lung disorders.
What is the typical pulmonary function test finding in PCD patients?
obstructive airway disease
This typically becomes more severe in adulthood.
What is the average age of onset for chronic and recurrent respiratory infections in PCD?
early in life
Symptoms such as rhinitis and sinusitis typically begin in infancy.
