Re-testing for primary ciliary dyskinesia (PCD) is only indicated for inner dynein arm defects

Background: PCD is an autosomal recessive condition that remains difficult to diagnose. Previously we showed that inner dynein arm phenotypic variants of PCD can in some cases revert to normal on re-testing [1]. Here we present 5-years of data on re-testing positively diagnosed PCD patientsacross a broad range of phenotypic variants. Aims: To test the hypothesis that re-testing for PCD does not change the initial testing results. Methods: Nasal brush biopsies were taken and ciliary beat frequency and pattern measured using high speed video microscopy. Biopsies were fixed and sectioned prior toultra-structural analysis using transmission electron microscopy. Results: 162 PCD cases were identified over a 5 year period (13% of cases referred). View this table: PCD re-tests Conclusion: Re-testing for PCD should be considered in patient's whose initial biopsy suggested an absence of inner dynein arms or a radial spoke defect. Reference: [1] O'Callaghan C, Rutman A, Williams GM, Hirst RA. Inner dynein arm defects causing primary ciliary dyskinesia: repeat testing required . European Respiratory Journal 03/2011; 38(3):603-7.