Primary Ciliary Dyskinesia Medical Slides

Present the ERS 2017 stepwise approach: Step 1 — clinical suspicion (PICADAR score ≥5, neonatal respiratory distress, situs abnormalities, chronic wet cough since infancy). Step 2 — nasal nitric oxide measurement (low nNO <77 nL/min highly suggestive, sensitivity 91-98%). Step 3 — high-speed video microscopy (abnormal beat pattern/frequency). Step 4 — transmission electron microscopy (outer/inner dynein arm defects, but 30% have normal TEM). Step 5 — genetic testing (confirm diagnosis, important for normal-TEM PCD subtypes).

Explain that approximately 50% of PCD patients have situs inversus totalis (mirror-image organ arrangement), known as Kartagener syndrome when combined with bronchiectasis and sinusitis. This occurs because embryonic nodal cilia determine left-right asymmetry — dysfunctional cilia result in random lateralization (50% chance of situs inversus, ~6% heterotaxy with possible congenital heart defects). Situs inversus itself is benign but heterotaxy carries significant cardiovascular morbidity. Situs inversus in a patient with chronic respiratory disease should prompt PCD evaluation.

Present the multidisciplinary management approach extrapolated from CF care (no PCD-specific RCTs exist): twice-daily airway clearance therapy (oscillatory PEP devices, active cycle breathing), prompt antibiotic treatment of exacerbations guided by sputum cultures, chronic macrolide therapy if frequent exacerbations (extrapolated from bronchiectasis evidence), ENT management (nasal saline irrigation, consideration of sinus surgery), hearing monitoring (chronic OME in childhood), and fertility counseling (male infertility in ~50% due to sperm dysmotility, female subfertility from impaired tubal ciliary function).