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.