Karolina Raczkowska-Łabuda, *Lidia Zawadzka-Głos
Primary ciliary dyskinesia: how to diagnose, how to treat
Department of Pediatric Otolaryngology, Medical University of Warsaw, Poland
Head of Department: Lidia Zawadzka-Głos, MD, PhD
Characteristics of the syndrome. Underlining the diagnostic and therapeutic difficulties. PCD symptoms include ARDS at the age of early – infancy, recurrent lower respiratory tract infections, chronic rhinosinusitis and otitis media, or impaired fertility. PCD requires differentiation with atypical asthma, bronchiectasis and cystic fibrosis. Diagnostic algorithm consist of cascade of tests (brush cytology/bronchoscopic samples, cilia motility evaluation, function and structure assesment with electron microscopy, immunochemical testing, genetic testing) preceded by screening tests (saccharin, measurement nNO). 1. The primary ciliary dyskinesia is rarely taking under consideration in the differential diagnosis of chronic/recurrent upper respiratory tract infections. 2. Available screening tests do not include target group of patients (< 12 y.o.). 3. No recommendations for the type and methods of obtaining material for testing and methods of its transportation. 4. The basic diagnostic limitation is high cost of a conclusive tests. 5. There is necessity to differentiate primary and secondary ciliary dyskinesia. 6. No general algorithm running patients diagnosed with PCD – the mandatory introduction of standard therapy.
Primary ciliary dyskinesia (PCD), also known as immotile cilia syndrome is a rare, genetically determined disease (predominantly inherited as an autosomal recessive) mostly interfering with upper and lower respiratory tract. It is associated in 40-50% with visceral situs inversus and other forms of heterotaxy (1). Symptoms of the disease directly result from impaired ciliary clearance.
Unfortunately disorders due to dysmotile cilia have been poorly studied in children. Therapeutic strategies are taken from the algorithms developed for the treatment of cystic fibrosis (CF). Lower requirement for more PCD research is the consequence.
CD is determined by a number of different genetic ciliary defects (tab. 1) that result in ineffective mucociliary clearance.
Table 1. Genes involved in primary ciliary dyskinesia (PCD). Based on (8).
|NAH5||5p15||ODA||PCD + KS|
|DNAI1||9p21- p13||ODA||PCD + KS|
|DNAH11||7p15.3- 21||Normal||PCD + KS|
|DNAI2||17q25.1||ODA||PCD + KS|
|KTU||14q21.3||ODA+IDA||PCD + KS|
|RPGR||Xp21.1||Variable||PCD with retinitis pigmentosa|
|OFD1||Xp22||Not known||PCD with mental retardation|
ODA – outer dynein arm, IDA – inner dynein arm, CP – central pair, KS – Kartagener’s syndrome
Most patients with PCD have symptoms since their birth or early infancy (2), but the diagnosis is usually postponed (3). Significant number of patients are never diagnosed (4). It seems likely (but stays unproven) that early diagnosis of PCD is important as deterioration in lung function can largely be prevented by specialist respiratory care (5).
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