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Published on: January 19, 2022
Nasal nitric oxide measurements to screen children for primary ciliary dyskinesia
Regula Corbelli1, Bettina Bringolf-Isler, Arnold Amacher
1Division of Intensive Care and Pulmonology, University Children's Hospital Basel, Römergasse 8, 4005 Basel, Switzerland. juerg.hammer@unibas.ch.
Insights
Nasal nitric oxide (NO) measurements can help diagnose primary ciliary dyskinesia (PCD) in children. Low nasal NO levels suggest PCD, while high levels effectively rule it out.
Area of Science:
- Pediatric Pulmonology
- Respiratory Medicine
- Diagnostic Biomarkers
Background:
- Primary ciliary dyskinesia (PCD) is a rare genetic disorder affecting cilia function.
- Accurate diagnosis of PCD in children is crucial for timely management.
- Current diagnostic methods can be invasive and complex.
Purpose of the Study:
- To evaluate the utility of exhaled and nasal nitric oxide (NO) measurements in diagnosing PCD in pediatric patients.
- To determine if nasal NO levels can serve as a reliable screening tool for PCD.
Main Methods:
- A cohort of 34 children with suspected PCD underwent diagnostic workup, including ciliary biopsy.
- Nasal and exhaled NO levels were measured in patients with and without biopsy-proven PCD, and in healthy controls.
- Statistical analysis was performed to assess the diagnostic performance of NO measurements.
Main Results:
- Children with PCD exhibited significantly lower nasal NO levels (13.7 ppb) compared to controls (223.7 ppb).
- Nasal NO measurement showed 88% specificity and 89% positive predictive value for PCD below 105 ppb.
- Nasal NO levels above 105 ppb excluded PCD with 100% certainty.
Conclusions:
- Nasal nitric oxide measurement is a valuable, non-invasive tool for screening children for primary ciliary dyskinesia.
- High nasal NO levels can reliably exclude PCD, simplifying the diagnostic pathway.
- Further research may explore exhaled NO, though it did not reach statistical significance in this study.
Study Objective:
To examine the usefulness of exhaled and nasal nitric oxide (NO) measurements to detect primary ciliary dyskinesia (PCD) in children.
Design And Methods:
The study population consisted of 34 children with symptoms suggestive of PCD who were previously referred to our pediatric university respiratory disease clinic for a diagnostic workup including analysis of ciliary structure and function by respiratory mucosal biopsy. PCD was diagnosed in 17 of the 34 children according to the ciliary biopsy results. Measurements of nasal and exhaled NO were performed according to European Respiratory Society and American Thoracic Society guidelines in the patients with and without biopsy-proven PCD, and also in 24 healthy age-matched subjects.
Results:
Nasal NO was significantly lower in those children with proven PCD (geometric mean; 13.7 parts per billion [ppb]), compared to those who had negative biopsy results (132.7 ppb) and healthy control subjects (223.7 ppb). The measurement of nasal NO in our study population showed, below a cut-off level of < 105 ppb, a specificity of 88% for PCD, and positive predictive value of 89%. Nasal NO above a cut-off level of 105 ppb excluded PCD with a 100% certainty. The lower levels of exhaled NO in patients with PCD did not reach statistical significance.
Conclusion:
The measurement of nasal NO appears to be a useful tool to screen children for PCD and to exclude this disease in those with high nasal NO levels.
