Figure 1 - available via license: Creative Commons Attribution 4.0 International
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Right temporal bone CT scans in axial view showing (white arrowheads) (a) a normal thin tympanic membrane (control patient) and (b) a middle ear inflammation with a tympanic membrane thickening (PCD patient)
Source publication
Primary ciliary dyskinesia (PCD) is a rare genetical disease characterized by an abnormal structure or function of the cilia, causing sinusitis, otitis, and bronchiectasis. Hearing loss affects 60% of PCD patients, but data are lacking concerning hearing and temporal bone imaging in adults. Our aim was to describe clinical and radiological ear dise...
Citations
... Interestingly, mastoid cells were more opacified in children with PCD than in children with CF ( Figure 3 and Table 4). The high prevalence of mastoid cell abnormalities in children with PCD is in line with a previous CT study that showed a higher prevalence of mastoid cell abnormalities in adults with PCD compared with controls with bronchiectasis without PCD (49). Because it is known that patients with PCD often have middle ear problems, it may be assumed that these might be a nidus for mastoiditis (50). ...
Rationale:
Primary ciliary dyskinesia (PCD) and cystic fibrosis (CF) are characterized by inherited impaired mucociliary clearance leading to chronic progressive lung disease as well as chronic rhinosinusitis (CRS). Both diseases share morphological and functional commonalities on magnetic resonance imaging (MRI) of lungs and paranasal sinuses, but comparative MRI studies are lacking.
Objectives:
Does PCD show different associations of pulmonary with paranasal sinus abnormalities on MRI as well as with lung function tests in infants to adolescents in comparison to children with CF?
Methods:
18 children with PCD (median age 9.5 [3.4-12.7]y, range 0-18y) and 36 age-matched, cystic fibrosis transmembrane conductance regulator modulator (CFTRm)-naïve children with CF (median age 9.4 [3.4-13.2]y, range 0-18y) underwent same-session chest and paranasal sinus MRI, as well as spirometry (ppFEV1) and multiple breath washout (lung clearance index [LCI] z-score). Pulmonary and paranasal sinus abnormalities were assessed using previously validated chest MRI and CRS-MRI scoring systems.
Results:
Mean chest MRI global score was similar in children with PCD and CF (15.0 [13.5-20.8] vs. 15.0 [9.0-15.0], P=0.601). Consolidations were more prevalent and severe in children with PCD (56% vs. 25% and 1.0 [0.0-2.8] vs. 0.0 [0.0-0.3], respectively; P<0.05). The chest MRI global score correlated moderately with ppFEV1 in both, children with PCD and with CF (r=-0.523 and -0.687, P<0.01), and with LCI in CF (r=0.650, P<0.001) but not in PCD (r=0.353, P=0.196). CRS-MRI sum score and mucopyocele subscore were lower in children with PCD than with CF (27.5 [26.3-32.0] vs. 37.0 [37.8-40.0] and 2.0 [0.0-2.0] vs. 7.5 [4.8-9.0], respectively; P<0.01). CRS-MRI sum score did not correlate with chest MRI scores in PCD (r=0.075 to 0.157, P=0.557-0.788), while it correlated moderately with MRI morphology score in CF (r=0.437, P<0.01).
Conclusions:
MRI detects differences in lung and paranasal sinus abnormalities between children with PCD and with CF. Lung disease does not correlate with CRS in PCD but in CF.
... The development of the mastoid air cells, which starts during fetal development and is completed before adolescence (4-7), is considered to be impeded by repeated and prolonged episodes of otitis media. From the viewpoint of PCD, two previous studies have investigated PCD by CT imaging of the temporal bone in adult patients (12,16). One study evaluated pneumatization of the mastoid air cells by qualitatively identifying them as condensed (12). ...
... From the viewpoint of PCD, two previous studies have investigated PCD by CT imaging of the temporal bone in adult patients (12,16). One study evaluated pneumatization of the mastoid air cells by qualitatively identifying them as condensed (12). The two cohorts in that study consisted of patients with bronchiectasis with or without PCD; mastoid consolidation was identified in 62% of the patients with PCD and in 24% of the controls without PCD. ...
... In our study, opacification was observed in 47% of mastoid air cells and 63% of the tympanic cavity in patients with PCD. Alexandru et al. (12) reported that findings of mastoid opacification were comparable, at 38 and 65%, respectively, even though the methodologies used were different in some regards. The common finding of both studies is that opacification was more prevalent in the tympanic cavity than in the mastoid air cells. ...
Objective
To evaluate pneumatization and opacification of the temporal bone on computed tomography (CT) images in patients with primary ciliary dyskinesia (PCD).
Study Design
Retrospective case-control study.
Setting
Tertiary referral center.
Patients
Fifteen patients with PCD (30 ears) and 45 age-matched individuals without PCD (90 ears) as controls.
Intervention
Diagnostic only.
Main Outcome Measure(s)
Quantification of mastoid air cells in the PCD and control groups and comparison between them. Degree of middle ear opacification on CT images of the temporal bone in the PCD group.
Results
The volume of the mastoid air cells was 30% smaller in the PCD group than in the control group ( p < 0.05). The suppression ratio, which is defined to indicate how much the average volume of mastoid air cells in the PCD group is suppressed relative to the control group, was 64% lower in the PCD group ( p < 0.05). Opacification was noted in 47% of the mastoid air cells and 63% of the tympanic cavity on CT images of the temporal bone in the PCD group, which were significantly higher frequencies than in the control group (1.1% and 1.1%, respectively)
Conclusions
Compared with individuals without PCD, those with PCD showed a significantly smaller volume of mastoid air cells and a significantly higher frequency of opacification of mastoid air cells and tympanic cavity on temporal bone CT. Otitis media raises suspicion for PCD, and the otological manifestations of PCD reported here could help to narrow the differential diagnosis and facilitate early treatment.
... 37 Another recent French study showed 71% of 17 adult patients with bronchiectasis and PCD had hearing impairment, 24% conductive. 38 Older populations and how symptoms were recorded in medical charts possibly explains some differences with our findings. Despite history of recurrent and chronic middle ear disease, there was no record of cholesteatoma for any study participant, which is in accordance with previous literature. ...
Importance:
Otologic disease is common among people with primary ciliary dyskinesia (PCD), yet little is known about its spectrum and severity.
Objective:
To characterize otologic disease among participants with PCD using data from the Ear-Nose-Throat Prospective International Cohort.
Design, setting, and participants:
This cross-sectional analysis of baseline cohort data from February 2020 through July 2022 included participants from 12 specialized centers in 10 countries. Children and adults with PCD diagnoses; routine ear, nose, and throat examinations; and completed symptom questionnaires at the same visit or within 2 weeks were prospectively included.
Exposures:
Potential risk factors associated with increased risk of ear disease.
Main outcomes and measures:
The prevalence and characteristics of patient-reported otologic symptoms and findings from otologic examinations, including potential factors associated with increased risk of ear inflammation and hearing impairment.
Results:
A total of 397 individuals were eligible to participate in this study (median [range] age, 15.2 [0.2-72.4] years; 186 (47%) female). Of the included participants, 204 (51%) reported ear pain, 110 (28%) reported ear discharge, and 183 (46%) reported hearing problems. Adults reported ear pain and hearing problems more frequently when compared with children. Otitis media with effusion-usually bilateral-was the most common otoscopic finding among 121 of 384 (32%) participants. Retracted tympanic membrane and tympanic sclerosis were more commonly seen among adults. Tympanometry was performed for 216 participants and showed pathologic type B results for 114 (53%). Audiometry was performed for 273 participants and showed hearing impairment in at least 1 ear, most commonly mild. Season of visit was the strongest risk factor for problems associated with ear inflammation (autumn vs spring: odds ratio, 2.40; 95% CI, 1.51-3.81) and age 30 years and older for hearing impairment (41-50 years vs ≤10 years: odds ratio, 3.33; 95% CI, 1.12-9.91).
Conclusion and relevance:
In this cross-sectional study, many people with PCD experienced ear problems, yet frequency varied, highlighting disease expression differences and possible clinical phenotypes. Understanding differences in otologic disease expression and progression during lifetime may inform clinical decisions about follow-up and medical care. Multidisciplinary PCD management should be recommended, including regular otologic assessments for all ages, even without specific complaints.
Primary ciliary dyskinesia (PCD) is a rare genetic disorder that leads to chronic inflammatory damage to the airways and auditory organs. This article presents current information and a study aimed at investigating parallels between the course of PCD and clinical and genetic variant of the disease, which contributes to a timely diagnosis and enables personalized treatment approach.
The aim of the study was to identify phenotypic characteristics and chronological patterns of PCD course depending on the genotype.
Methods. The study was conducted at the Veltischev Research Clinical Institute of Pediatrics and Pediatric Surgery of the Pirogov Russian National Research Medical University (Pirogov Medical University), Ministry of Health of Russia. The study included children with PCD who underwent next generation sequencing (NGS) of the exome.
Results. Significant differences were found in the course of PCD based on clinical and genetic characteristics. Children with defects in the genes encoding central pair proteins are characterized by an earlier onset of daily productive cough and recurrent respiratory infections. A similar pattern is typical for patients with defects in the genes encoding the cilia assembly proteins. The first episode of respiratory infection occurs later in patients with defects in the genes encoding dynein handle proteins. Patients who do not have defects in PCD-associated genes are characterized by a late onset of persistent difficulty in nasal breathing, productive cough and respiratory diseases.
Conclusion. Identification of clinical and genetic variants of PCD allows prediction of chronological features of the course of the disease.
Background and objectives:
Primary ciliary dyskinesia (PCD, ORPHA:244) is a group of rare genetic disorders characterized by dysfunction of motile cilia. It is phenotypically and genetically heterogeneous, with more than 50 genes involved. Thanks to genetic, clinical, and functional characterization, immense progress has been made in the understanding and diagnosis of PCD. Nevertheless, it is underdiagnosed due to the heterogeneous phenotype and complexity of diagnosis. This review aims to help clinicians navigate this heterogeneous group of diseases. Here, we describe the broad spectrum of phenotypes associated with PCD and address pitfalls and difficult-to-interpret findings to avoid misinterpretation.
Method:
Review of literature CONCLUSION: PCD diagnosis is complex and requires integration of history, clinical picture, imaging, functional and structural analysis of motile cilia and, if available, genetic analysis to make a definitive diagnosis. It is critical that we continue to expand our knowledge of this group of rare disorders to improve the identification of PCD patients and to develop evidence-based therapeutic approaches.
