Function and ultrastructure of cilia in primary ciliary dyskinesia

Primary ciliary dyskinesia (PCD) is a heterogeneous disease with impaired m ucociliary transport leading to upper and lower respiratory disorders, hear ing impairment and male infertility. Primary ciliary dyskinesia can only be diagnosed by clinical features together with functional and structural ana lysis of the cilia. To prevent bronchiectasis with marked reduced quality o f life, early diagnosis is essential. For this purpose we compared our experience over 10 years with the literatu re. Our concept consists of a thorough interdisciplinary examination of the patient to rule out other underlying pathologies such as allergy, cystic f ibrosis, immune deficiencies, and alpha-l-antitrypsin deficiency on the bas is of their clinical features. Thereafter, mucosal biopsies from 27 patient s were investigated. In 10 patients (37%) primary ciliary dyskinesia was di agnosed with the help of functional and ultra-Structural analysis. 9 patien ts displayed no or impaired ciliary motility and a high percentage showed u ltrastructural defects such as dynein arm deficiency, radial spoke defects and translocation of peripheral microtubular doublets with absent central m icrotubules. We suggest that investigation of mucosal biopsies for primary ciliary dyski nesia 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" caus e (i.e. after ruling out the other well known causes) with "situs inversus" .