Evaluation of otorhinolaryngological manifestations in patients with
primary ciliary dyskinesia
Background: Primary ciliary dyskinesia (PCD) is a genetic
disease characterized by recurrent respiratory tract infections.
Although the pulmonary manifestations of the disease are well defined,
data on otorhinolaryngological complications are insufficient. This
study aimed to reveal the prevalence, clinical course and related
factors of ear-nose-throat (ENT) manifestations in PCD patients.
Methods: PCD patients followed in the ENT department of our
center for the last 21 years were included in this retrospective
observational study. The frequency of sinonasal and otological diseases,
the relationships between clinical and demographic data, and possible
risk factors for otorhinolaryngological findings were investigated.
Results: Of the 121 patients recruited, 53% were male and the
median age at diagnosis was 7 (1 month - 20 years) years. The most
common ENT manifestation was otitis media with effusion (OME) (66.1%),
followed by acute otitis media (43.8%), acute rhinosinusitis (ARS)
(28.9%), chronic rhinosinusitis (CRS) (27.3%), and chronic otitis
media (10.7%). The mean age of patients with ARS (18 vs. 16 years,
p=0.045) and CRS (19 vs. 16 years, p=0.028) was higher than those
without. The annual number of ARS was positively correlated with age (r=
0.170, p=0.06). A total of 45 patients had audiograms and the most
common finding was conductive hearing loss (53.3%). OME significantly
increased this risk of tympanic membrane injury (OR: 8.6, 95% CI:
3.6-20.3, p<0.001). Although not statistically significant,
hearing loss was more common in patients who had OME compared to those
who did not (76.5% vs. 45.5%, OR: 3.9, 95% CI: 0.94-16.2, p=0.062).
Conclusions: Otorhinolaryngologic diseases are common in PCD
patients and the awareness of ENT physicians should be expanded. Our
study showed that with increasing age, patients may present with ARS and
CRS more. Presence of OME is the most important risk factor for tympanic
membrane damage and the most common type of hearing loss is conductive