Function and ultrastructure of cilia in primary ciliary dyskinesia

Primary ciliary dyskinesia (PCD) is a heterogeneous disease with impaired mucociliary transport leading to upper and lower respiratory disorders, hearing impairment and male infertility. Primary ciliary dyskinesia can only be diagnosed by clinical features together with functional and structural analysis of the cilia. To prevent bronchiectasis with marked reduced quality of life, early diagnosis is essential. For this purpose we compared our experience over 10 years with the literature. Our concept consists of a thorough interdisciplinary examination of the patient to rule out other underlying pathologies such as allergy, cystic fibrosis, immune deficiencies, and alpha-1-antitrypsin deficiency on the basis of their clinical features. Thereafter, mucosal biopsies from 27 patients were investigated. In 10 patients (37%) primary ciliary dyskinesia was diagnosed with the help of functional and ultrastructural analysis. 9 patients displayed no or impaired ciliary motility and a high percentage showed ultrastructural defects such as dynein arm deficiency, radial spoke defects and translocation of peripheral microtubular doublets with absent central microtubules. We suggest that investigation of mucosal biopsies for primary ciliary dyskinesia diagnosis without clinical preselection is indicated in patients with "situs inversus" suffering from chronic and/or recurrent airway infections, in patients with neonatal respiratory distress syndrome of "unknown" cause (i.e. after ruling out the other well known causes) with "situs inversus".