No abstract

Primary ciliary dyskinesia is an inherited disorder in which respiratory cilia are stationary, or beat in a slow or dyskinetic manner, leading to impaired mucociliary clearance and significant sinopulmonary disease. One diagnostic test is ciliary functional analysis using digital high‐speed video microscopy (DHSV), which allows real‐time analysis of complete ciliary function, comprising ciliary beat frequency (CBF) and ciliary beat pattern (CBP). However, DHSV lacks standardization. In this paper, the current knowledge of DHSV ciliary functional analysis is presented, and recommendations given for a standardized protocol for ciliary sample collection and processing. A proposal is presented for a quantitative and qualitative CBP evaluation system, to be used to develop international consensus agreement, and future DHSV research areas are identified.

Cilia are widely distributed throughout the human body, and have numerous roles in physiology, development, and disease. Ciliary ultrastructure is complex, consisting of nine parallel microtubules doublets, with or without motor dynein arms and a central pair of microtubules. Classification of cilia has evolved over time, and currently, four main classes are described: motile and non-motile cilia with a "9 + 2" structure, and motile and non-motile cilia with a "9 + 0" structure, which depend on the presence or absence of dynein arms and a central pair. Ciliopathies are inherited multisystem disorders of cilia, and may present with a varied spectrum of genotypes and phenotypes. Motor and sensory ciliopathies were historically considered as distinct dysfunctions of motile and non-motile cilia, but recent data indicate that the classical features of motor and sensory cilia may overlap.

BackgroundSinonasal symptoms are a common feature of primary ciliary dyskinesia (PCD), however, literature about their severity and frequency, particularly during the life course is scarce. Using baseline data from the Ear, nose, and throat (ENT) Prospective International Cohort of PCD patients, we describe sinonasal disease in PCD.MethodsWe included participants who had a routine sinonasal examination during which they completed a symptoms questionnaire. We compared frequency of reported symptoms, and examination findings among children and adults and identified characteristics potentially associated with higher risk of sinonasal disease using ordinal regression.Results12 centres contributed 384 participants; median age was 16 years (IQR 9–22), and 54% were male. Chronic nasal problems were the most common feature, reported by 341 (89%). More adults (33; 24%) than children (10; 4%) described hyposmia. Quality of life was moderately affected by rhinosinusitis among 136 participants with completed SNOT-22 questionnaires (median score 31; IQR 23–45). Examinations revealed nasal polyps among 51 of 345 participants (14%) and hypertrophic inferior nasal turbinates among 127 of 341 participants (34%). Facial pain was detected among 50 of 342 participants (13%). Nasal polyps, hypertrophic turbinates, deviated septum, and facial pain were found more commonly in adults than children. The only characteristic associated with higher risk of sinonasal disease was age 10 years and older.ConclusionsBased on our findings, regular sinonasal examinations are relevant for patients with PCD of all ages. There is a need for improved management of sinonasal disease supported by evidence-based guidelines.