Subjective
Date of visit
Reason for visit (follow-up for PCD, evaluation of new symptoms)
Current symptoms:
Respiratory:
Chronic wet cough (productive or non-productive)
Frequent respiratory infections (sinusitis, bronchitis, pneumonia)
Nasal congestion or rhinitis
Difficulty clearing mucus (sinus congestion, chest tightness)
Shortness of breath (may occur with exertion)
Other (variable depending on PCD presentation):
Ear problems (otitis media, hearing loss)
Male infertility (due to sperm immobility)
Situs inversus (reversed organ positioning) – occurs in about 50% of PCD cases (Kartagener syndrome)
Developmental delays (may be present in severe cases)
Changes in cough pattern, sputum production, or fever (suggestive of infection)
Recent illnesses or hospitalizations
Social history:
Smoking history (can worsen PCD symptoms)
Environmental exposures (irritants, allergens)
Objective
Vital signs (temperature, blood pressure, heart rate, oxygen saturation) – fevers may suggest infection, low oxygen possible with severe lung disease
Physical exam:
General (assessing for signs of respiratory distress)
Chest exam (wheezing, crackles)
Ear exam (otitis media signs)
Sinus tenderness (if present)
Diagnostic Tests (may be performed based on clinical presentation):
Nasal nitric oxide (nNO) level: low nNO is suggestive of PCD, but requires confirmation with other tests in some age groups
Sputum analysis (microscopy and culture) – to identify any pathogens and manage potential infections
Sweat test: elevated electrolytes in sweat can be a diagnostic indicator of PCD, but not specific for PCD
High-resolution chest CT scan: may show characteristic features of PCD (bronchiectasis)
Electron microscopy of nasal cilia (gold standard for diagnosis, but invasive) – may not be readily available in all centers
Assessment
Primary ciliary dyskinesia (confirmed or suspected based on clinical presentation and available diagnostic tests)
Severity of respiratory symptoms and lung function
Presence of situs inversus or other organ involvement
Risk factors for complications (e.g., smoking, recurrent infections)
Plan
Treatment plan based on symptoms and disease severity:
Airway clearance techniques (postural drainage, chest physiotherapy) to help remove mucus
Antibiotics (to treat or prevent respiratory infections)
Nasal saline irrigations (to clear congestion)
Bronchodilators (if wheezing is a prominent symptom)
Smoking cessation counseling (if applicable)
Referral to a PCD specialist for comprehensive management (if needed)
Education
Explain primary ciliary dyskinesia, a chronic condition affecting the function of cilia (tiny hair-like structures).
Discuss the importance of airway clearance techniques and medication adherence.
Prevention strategies for respiratory infections (frequent handwashing, avoiding sick contacts)
Management of specific symptoms (cough, congestion, ear problems)
Importance of regular follow-up to monitor lung function and manage complications.
Provide information about support groups or patient advocacy organizations.
Follow-up
Schedule for follow-up appointments:
Monitor response to treatment (symptoms, lung function tests)
Address any ongoing challenges or concerns
Screen for complications (sinusitis, bronchiectasis)
Vaccinations (ensure patient is up-to-date on recommended immunizations)
Disclaimer: This information is for educational purposes only and should not be interpreted as medical advice. Please consult with a qualified healthcare professional for diagnosis and treatment of primary ciliary dyskinesia