ATS GUIDELINES Bundle

Primary Ciliary Dyskinesia

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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

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