Diagnosis
Figure 1. Suggested Diagnostic Algorithm for Evaluating the
Patient with Suspected Primary Ciliary Dyskinesia
At least 2 of the 4 key clinical features for PCD:
• Unexplained neonatal respiratory distress in term infant
• Year-round daily cough beginning before 6 months of age
• Year-round daily nasal congestion beginning before
6 months of age
• Organ laterality defect
NO PCD Unlikely
YES
Access to nNO testing (with chemiluminescence device and standardized
protocol) at specialty center AND Cooperative patient ≥5 years old, capable of
performing nNO testing maneuver
YES to both
(preferred pathway)
Nasal nitric oxide measurement
a
Low nNO level Normal nNO level
Diagnosis of PCD,
if CF is excluded.
- Advise repeat nNO to verify
low value
c
Unlikely PCD diagnosis
Pursue genetic testing if
strong clinical features
d
Pursue additional
corroborative PCD testing:
f
- Extended genetic panel testing
(first line)
-TEM of ciliary ultrastructure
