Discussion
In this study, we investigated ENT manifestations and examination
findings in PCD patients and revealed the related factors. Our cohort’s
median age at diagnosis was 7 years, still higher than the European
average (5.3 years).14 Early diagnosis enables close
follow-up of patients, early treatment, and prevention of complications.
In a recent study from our country, the mean age at diagnosis was
reported as 8.3 ± 4.6 years.1 Access to diagnostic
tests is an important factor for early diagnosis as well as clinicians’
awareness and experience of the centre. One of the most striking
findings of our study is that ENT physicians suspected the diagnosis of
PCD in only 2 patients. Similar to our study, it has been shown in
previous publications that situs inversus significantly accelerates the
diagnosis.8
The most common PCD manifestation in our patients was LRTI (87.6%),
while the most common ENT involvement was OME (66.1%). Data on the
prevalence of ENT diseases in PCD patients are variable in the
literature. Rhinitis, rhinosinusitis, and nasal congestion have been
reported in the range of 9% to 100%.15 In our study,
nasal secretions of different nature or polyps were observed in 53% of
patients, while the rest were normal. While nasal secretion findings
were prominent in patients with ARS, the frequency of polyps increased
in CRS. Another important finding of our study is that LRTI was common
at earlier ages, while ARS and CRS were seen at later ages. Also, the
higher the age of first ARS in the patients, the lower the annual
frequency. Rhinitis and sinusitis are significant morbidities in PCD
patients, which reduces their quality of life and increases the risk of
opportunistic infections and polyps.8 Another problem
is otitis media, which prevalence is reported to be between 23% and
100%.15 While effusion was the most common finding in
otoscopic examination in our patients, perforation, retraction and
sclerosis were also seen in chronic cases. Consistent with the
literature average, half of our patients required
VTI.12,15 The most important complication of recurrent
or chronic otitis media is permanent vestibulocochlear sequelae. Hearing
loss in PCD patients is essentially conductive.12 In a
study, 66.6% of 42 PCD patients with hearing loss were shown to have
bilateral problems.10 We found mild to severe hearing
loss of different natures in 69% of 45 patients who underwent
audiograms. These were mostly mild-moderate, conductive and bilateral
hearing losses. VTI has a positive effect on hearing functions. However,
prolonged otorrhea after the procedure is a
challenge.16 Although the pathophysiology is unknown,
recent studies report an increased frequency of balance disorders in PCD
patients.11,12 In one study, 20% of children with PCD
expressed complaints of imbalance.12 Another study
revealed abnormal vestibular tests in 76% of 25 children with
PCD.11 This condition may show progression with age.
Vestibular damage may be due to the increased frequency of ototoxic
antibiotics, or may be associated with the primary disease.
In recent years, PCD studies have mostly focused on pulmonary disease
and its complications. There is still insufficient information on the
prevalence and management of ENT manifestations. Although there is an
expert consensus for the identification of pulmonary exacerbations in
PCD patients17, there is no definition for
exacerbation of sinusitis, otitis or pharyngitis specific to PCD
patients.
Prevention and control of infections are also important in PCD patients.
It has been shown that the most commonly grown bacteria in the nasal
swabs were Staphylococcus aureus , Streptococcus pneumoniae,
Haemophilus influenzae, and Moraxella catarrhalis , respectively.
BEAT-PCD network recommends antibiotic therapy if the abovementioned
bacteria grow in respiratory tract samples of symptomatic
patients.18 However, evidence-based data in the
treatment of PCD are still insufficient. Patients are managed based on
cystic fibrosis or bronchiectasis guidelines or expert opinion. Nasal
irrigation, topical steroids or antibiotherapy are used in the treatment
of chronic rhinosinusitis. Studies showing the benefit of functional
endoscopic sinus surgery in PCD patients are
limited.19 Another surgical indication is often nasal
polyps. It is obvious that RCTs are needed in the management of
otorhinolaryngeal diseases in PCD.
It is recommended that pediatric PCD patients consult a pediatric
otolaryngologist at least once or twice a year. In addition, audiology
evaluation at diagnosis is recommended for all PCD patients, and
subsequent evaluations should be coordinated by
otolaryngologists.4 The BEAT-PCD FOLLOW-PCD working
group has developed a form for comprehensive standard clinical
evaluation in initial diagnosis and follow-ups. The form has a modular
structure to allow flexible use based on local practice and research
focus.20 A new prospective international cohort study
called EPIC-PCD focusing on upper respiratory tract diseases in PCD
patients.13 The aim of the study is to determine the
prevalence and character of ENT diseases in PCD patients, and to reveal
the possible factors that determine the clinical course and prognosis.
This study will also contribute to the prevention of unnecessary
antibiotic use and its comorbidity by presenting more reliable data in
the field.
Although the large number of patients in our study is asubstantial
advantage, its retrospective nature brings limitations. The prevalence
of otorhinolaryngeal diseases may be higher than the reality, as only
patients who admitted to ENT are included. Another limitation is that
only 45 patients had an audiogram. Therefore, the factors predicting
hearing loss could not be clearly demonstrated. In addition, the
inability to evaluate vestibular functions, upper respiratory tract
microbiological examination and genetic analysis can be counted as other
limitations.