Questionnaire to preselect patients with a high probability of primary ciliary dyskinesia

As diagnostic methods for primary ciliary dyskinesia are not generally available, we tested whether clinical criteria allow to preselect patients with a high probability of this disease, who should be further investigated in a specialized centre.

In patients with chronic cough we compared parameters of the case history with the finding of a reduced ciliary beat frequency (CBF). Data sheets of 323 patients (133 females, 190 males) aged 1 week through 40 years (median age 4.5 years) were available for analysis. Of these patients 46 (14%) had a reduced CBF.

In this group the following features were found significantly more frequently compared to patients with normal CBF: neonatal respiratory disorder (odds ratio (OR) 9.0; 95% confidence interval (95% CI) 3.2;25), situs inversus (OR 8.1; 95% CI 2.5;26), retention of airway secretions (OR 6.7; 95% CI 2.4;19), recurrent pneumonia (OR 4.1; 95% CI 1.8;9.5), bronchiectasis (OR 3.5; 95% CI 1.2;11), asthma with poor response to treatment (OR 2.4; 95% CI 1.1;5.3). At least one of these potential indicators was present in 91% of the patients with reduced CBF.

In patients with chronic cough specific parameters of the case history indicate a high probability of a reduced ciliary beat frequency which is an indicator for primary ciliary dyskinesia. If none of these findings is present, a reduced CBF is highly unlikely.