Overview
Definition:
Primary ciliary dyskinesia (PCD) is a rare, inherited disorder characterized by impaired function of motile cilia, leading to defective mucus clearance from the airways and other ciliated epithelia.
Epidemiology:
PCD is estimated to affect 1 in 15,000 to 1 in 30,000 live births
It is inherited in an autosomal recessive pattern, with over 30 known genetic loci involved
Prevalence may be higher in populations with a higher rate of consanguinity.
Clinical Significance:
PCD leads to chronic respiratory infections, bronchiectasis, otitis media, sinusitis, and infertility
Early diagnosis and effective airway clearance are crucial for preventing long-term lung damage and improving quality of life, making it a vital topic for pediatricians preparing for DNB and NEET SS exams.
Clinical Presentation
Symptoms:
Persistent wet cough from infancy
Recurrent pneumonia
Chronic otitis media with effusion
Chronic rhinosinusitis
Neonatal respiratory distress
Situs inversus in about 50% of cases (Kartagener syndrome)
Subfertility in adulthood.
Signs:
Crackles and wheezes on lung auscultation
Nasal polyps
Otorrhea
Purulent nasal discharge
Ear infections
Clubbing in severe, chronic cases
Growth retardation in some children.
Diagnostic Criteria:
No single definitive diagnostic criterion exists
Diagnosis is based on a combination of clinical features, family history, exclusion of other causes, and specialized testing
A high index of suspicion is required in infants and children with chronic wet cough and recurrent respiratory infections.
Diagnostic Approach
History Taking:
Detailed birth history (e.g., neonatal respiratory distress)
Onset and frequency of respiratory infections (pneumonia, bronchitis)
History of ear infections (otitis media) and sinusitis
Presence of situs inversus or other congenital anomalies
Family history of similar symptoms or known PCD
Progression of symptoms.
Physical Examination:
Complete respiratory examination for adventitious sounds
Otoscopic examination for signs of otitis media
Nasal examination for polyps and discharge
Assessment for situs inversus by palpating liver and heart apex
Growth assessment.
Investigations:
High-speed video microscopy (HSVM) of nasal nitric oxide measurements
Genetic testing for known PCD mutations
Nasal nitric oxide measurements: typically very low (<77 nL/min) in PCD
HSVM of ciliary beat pattern and frequency from respiratory epithelial cells (bronchial brushing or nasal biopsy): shows abnormal beat patterns or immotility
Nasal nitric oxide levels can be used as a screening test
High-resolution CT scan of the sinuses and chest may show characteristic changes (e.g., sinus opacification, bronchiectasis) but are not diagnostic alone
Pulmonary function tests (PFTs) are useful in older children to assess lung function and disease severity.
Differential Diagnosis:
Cystic fibrosis (CF) is the most important differential
consider CF if NBS is positive or sweat chloride is elevated
Asthma
Allergic rhinitis
Immunodeficiency disorders
Bronchopulmonary dysplasia
Recurrent aspiration
Viral bronchiolitis
Non-PCD primary ciliary dysfunction.
Management
Initial Management:
Confirmation of diagnosis through specialized testing is paramount
Establishing a multidisciplinary care team including pulmonologists, ENTs, geneticists, and respiratory therapists
Patient and family education regarding the chronic nature of the disease and self-management strategies.
Medical Management:
Aggressive treatment of respiratory infections with appropriate antibiotics (oral, inhaled, or intravenous based on culture and sensitivity)
Chest physiotherapy and airway clearance techniques (ACTs) are the cornerstone of management
Mucolytics (e.g., saline nebulization) may be used
Bronchodilators and inhaled corticosteroids are used if significant bronchospasm or inflammation is present.
Surgical Management:
Surgical intervention is reserved for specific complications and is not curative
Tympanostomy tube insertion for recurrent otitis media with effusion
Adenoidectomy or tonsillectomy in select cases of chronic airway obstruction or recurrent tonsillitis
Management of bronchiectasis, if severe and localized, may be considered but is rarely definitive.
Supportive Care:
Nutritional support to maintain adequate growth and weight
Immunizations to prevent common infections
Psychosocial support for patients and families
Regular follow-up with a specialist team
Monitoring for complications like hearing loss or sinusitis.
Airway Clearance Techniques
Goals:
To mobilize and expectorate retained secretions from the lungs and airways, thereby reducing the risk of infection and inflammation.
Techniques:
Active Cycle of Breathing Techniques (ACBT) including breathing control, thoracic expansion exercises, and huff coughing
Autogenic drainage (AD)
Positive expiratory pressure (PEP) devices (e.g., Flutter, Acapella)
High-frequency chest wall oscillation (HFCWO) devices
Manual chest physiotherapy (chest percussions and vibrations)
Nasal saline irrigation for sinonasal clearance.
Selection And Adherence:
Technique selection should be individualized based on age, ability, preference, and effectiveness
Education and ongoing training are crucial for adherence
Start ACTs early in life and integrate them into daily routines
Supervised training is essential for proper technique execution.
Complications
Early Complications:
Severe neonatal respiratory distress
Severe pneumonia
Acute otitis media
Sinusitis.
Late Complications:
Bronchiectasis
Pulmonary hypertension
Cor pulmonale
Hearing loss due to chronic otitis media
Infertility (male and female)
Chronic rhinosinusitis
Nasal polyposis.
Prevention Strategies:
Early and consistent application of airway clearance techniques
Prompt and appropriate antibiotic treatment for infections
Regular medical surveillance and follow-up
Management of otitis media and sinusitis.
Prognosis
Factors Affecting Prognosis:
Severity of lung disease at diagnosis
Age of onset of symptoms and diagnosis
Adherence to airway clearance and medical management
Presence of specific genetic mutations
Development of bronchiectasis
Development of Pseudomonas aeruginosa colonization.
Outcomes:
With consistent and effective management, individuals with PCD can lead relatively normal lives and achieve good lung function for many years
However, chronic respiratory compromise and reduced quality of life are common
Life expectancy has improved significantly with better diagnostic tools and management strategies.
Follow Up:
Lifelong follow-up with a specialized PCD center is recommended
Regular pulmonary function tests, sputum cultures, and imaging (e.g., chest X-rays, HRCT) are essential
Monitoring for complications such as hearing loss, sinus disease, and fertility issues.
Key Points
Exam Focus:
Key diagnostic modalities: low nasal NO, HSVM of cilia, genetic testing
Cornerstones of management: ACTs and aggressive infection control
Differentiate from Cystic Fibrosis
Kartagener syndrome association.
Clinical Pearls:
Suspect PCD in any infant with persistent wet cough and recurrent respiratory infections
Always check for situs inversus
Early intervention with ACTs is critical to prevent irreversible lung damage
Multidisciplinary approach is key
Educate families thoroughly on ACTs.
Common Mistakes:
Delaying diagnosis due to lack of awareness or availability of specialized testing
Underestimating the importance of consistent airway clearance
Inadequate treatment of respiratory infections
Failing to differentiate PCD from CF and other causes of chronic cough.