Diagnostic approach to primary ciliary dyskinesia: a review

Primary ciliary dyskinesia (PCD) is a heterogeneous disease with impaired m ucociliary transport leading to respiratory disorders, hearing impairment a nd male infertility. PCD can be diagnosed by clinical features together wit h functional and structural analysis of the cilia, To prevent bronchiectasi s with a marked reduction in quality of life, early diagnosis is essential. The rarity of PCD and the costs of ultrastructural analysis of cilia requi re a rational diagnostic concept. We therefore reviewed the literature and compared clinical manifestations as well as functional and structural analy ses of the cilia in 28 patients (23 children, 5 adults) investigated betwee n 1990 and 1998. All were thoroughly examined for other possible diseases b efore biopsy, and ten patients (35.7%; eight children, two adults) were dia gnosed as having PCD. From the literature review and our findings we conclu de that ciliary investigation is indicated (a) in patients who remain suspe cted of having PCD despite thorough clinical examination and exclusion of o ther disorders such as cystic fibrosis, allergy, immunologic disorders and alpha(1)-antitrypsin deficiency; (b) in patients with situs inversus suffer ing from chronic and/or recurrent airway infections; and (c) in patients wi th neonatal respiratory distress syndrome of "unknown" cause (i.e. after ex clusion of hyaline membrane disease, aspiration syndromes, neonatal pneumon ia, and pneumothorax as well as cardiovascular and metabolic diseases). Conclusion The combination of extensive clinical examination with functiona l and ultrastructural analysis of the cilia results in a high degree of acc uracy in diagnosing PCD.