Diagnosis of primary ciliary dyskinesia in a Dutch cohort of 63 pediatric patients: An overview

The diagnosis of primary ciliary dyskinesia (PCD) is difficult, as a single gold standard is lacking. The diagnosis is usually based on a combination of clinical symptoms, abnormal movement of cilia on microscopic evaluation of respiratory epithelial biopsies (LM) and/or epithelial cell cultures (CLM), or identification of an ultra structural defect in the cilia by electron microscopy (EM). In order to get more insights into the diagnostic value of each of these tests, we performed a retrospective analysis in a cohort of 63 pediatric PCD patients treated within our center. Patient characteristics were as follows: mean age at diagnosis 3.8 years (range 0-18 years), males 44%, females 56% and situs inversus 39.7%. PCD was diagnosed based on a combination of clinical symptoms and LM in 7,9%, EM 4,8%, CLM 1,6%, LM and CLM 36.5%, LM and EM 20.6%, or LM, EM and CLM in 28,6% of the patients respectively. Abnormal beat frequency, amplitude and coordination observed in epithelial cell cultures from PCD patients, correlated with dyskinetic movement observed in the original biopsies (p