scholarly journals Study protocol: the ear–nose–throat (ENT) prospective international cohort of patients with primary ciliary dyskinesia (EPIC-PCD)

BMJ Open ◽  
2021 ◽  
Vol 11 (10) ◽  
pp. e051433
Author(s):  
Myrofora Goutaki ◽  
Yin Ting Lam ◽  
Mihaela Alexandru ◽  
Andreas Anagiotos ◽  
Miguel Armengot ◽  
...  
Keyword(s):  
Lung Disease ◽  
Study Protocol ◽  
Primary Ciliary Dyskinesia ◽  
Clinical Symptoms ◽  
Ethics Committees ◽  
Human Research Ethics ◽  
Patient Organisations ◽  
Patient Reported ◽  
Reported Data ◽  
Ciliary Dyskinesia

IntroductionPrimary ciliary dyskinesia (PCD) is a rare, genetic, multiorgan disease with an estimated prevalence of 1 in 10 000. It affects mainly the upper and lower airways due to impaired mucociliary clearance. Almost all patients have sinonasal or otologic (ear–nose–throat, ENT) problems, although the ENT clinical phenotype may present great variability. Despite that, data on PCD ENT manifestations are scarce and based on small single-centre studies. To date, we know little about the spectrum and severity of PCD ENT disease, its association with lung disease, its course over life and its determinants of prognosis.This study protocol describes the aims and methods of the first prospective, observational, multinational cohort study focusing on ENT disease in patients with PCD.Methods and analysisThe ENT prospective international cohort of patients with PCD (EPIC-PCD) is a prospective standardised observational clinical cohort set up as a multinational multicentre study, embedded into routine patient care. It aims to longitudinally characterise ENT disease in patients with PCD and its association with lung disease, and to identify determinants of its prognosis. Patients of all ages, diagnosed with PCD who undergo an ENT clinical assessment at least once a year at one of the participating centres will be invited to participate. Collected data include diagnostic test results, results of ENT examinations, lung function measurements, information on management of ENT disease and patient-reported data on clinical symptoms and health-related quality of life (QoL). Data are collected using the standardised PCD-specific FOLLOW-PCD form and the validated QoL-PCD questionnaire.Ethics and disseminationThe study has been reviewed and approved by the Human Research Ethics Committees at all participating centres, based on local legislation. The results of the study will be published in scientific journals, presented at scientific conferences and disseminated to participants and national patient organisations.Trial registrationNCT04611516.

scholarly journals Automated computed tomographic scoring of lung disease in adults with primary ciliary dyskinesia

2018 ◽  
Vol 18 (1) ◽  
Author(s):  
Trieu-Nghi Hoang-Thi ◽  
Marie-Pierre Revel ◽  
Pierre-Régis Burgel ◽  
Laurence Bassinet ◽  
Isabelle Honoré ◽  
...  
Keyword(s):  
Lung Disease ◽  
Primary Ciliary Dyskinesia ◽  
Computed Tomographic ◽  
Ciliary Dyskinesia

scholarly journals Clinical manifestations in primary ciliary dyskinesia: systematic review and meta-analysis

2016 ◽  
Vol 48 (4) ◽  
pp. 1081-1095 ◽  
Author(s):  
Myrofora Goutaki ◽  
Anna Bettina Meier ◽  
Florian S. Halbeisen ◽  
Jane S. Lucas ◽  
Sharon D. Dell ◽  
...  
Keyword(s):  
Systematic Review ◽  
Primary Ciliary Dyskinesia ◽  
Clinical Symptoms ◽  
Meta Analysis ◽  
Age Groups ◽  
Clinical Manifestations ◽  
Explanatory Factors ◽  
Symptom Prevalence ◽  
Meta Analyses ◽  
Ciliary Dyskinesia

Few original studies have described the prevalence and severity of clinical symptoms of primary ciliary dyskinesia (PCD). This systematic review and meta-analysis aimed to identify all published studies on clinical manifestations of PCD patients, and to describe their prevalence and severity stratified by age and sex.We searched PubMed, Embase and Scopus for studies describing clinical symptoms of ≥10 patients with PCD. We performed meta-analyses and meta-regression to explain heterogeneity.We included 52 studies describing a total of 1970 patients (range 10–168 per study). We found a prevalence of 5% for congenital heart disease. For the rest of reported characteristics, we found considerable heterogeneity (I2 range 68–93.8%) when calculating the weighted mean prevalence. Even after taking into account the explanatory factors, the largest part of the between-studies variance in symptom prevalence remained unexplained for all symptoms. Sensitivity analysis including only studies with test-proven diagnosis showed similar results in prevalence and heterogeneity.Large differences in study design, selection of study populations and definition of symptoms could explain the heterogeneity in symptom prevalence. To better characterise the disease, we need larger, multicentre, multidisciplinary, prospective studies that include all age groups, use uniform diagnostics and report on all symptoms.

scholarly journals Primary Ciliary Dyskinesia: Longitudinal Study of Lung Disease by Ultrastructure Defect and Genotype

2019 ◽  
Vol 199 (2) ◽  
pp. 190-198 ◽  
Author(s):  
Stephanie D. Davis ◽  
Margaret Rosenfeld ◽  
Hye-Seung Lee ◽  
Thomas W. Ferkol ◽  
Scott D. Sagel ◽  
...  
Keyword(s):  
Longitudinal Study ◽  
Lung Disease ◽  
Primary Ciliary Dyskinesia ◽  
Ciliary Dyskinesia

scholarly journals Respiratory symptoms of Swiss people with Primary Ciliary Dyskinesia

2021 ◽  
Author(s):  
Myrofora Goutaki ◽  
Leonie Huesler ◽  
Yin Ting Lam ◽  
Helena M Koppe ◽  
Andreas Jung ◽  
...  
Keyword(s):  
Clinical Data ◽  
Primary Ciliary Dyskinesia ◽  
Respiratory Symptoms ◽  
Phenotypic Variability ◽  
Shortness Of Breath ◽  
Runny Nose ◽  
Nasal Symptoms ◽  
Patient Reported ◽  
Almost All ◽  
Ciliary Dyskinesia

Background: Mostly derived from chart reviews, where symptoms are recorded in a nonstandardised manner, clinical data about primary ciliary dyskinesia (PCD) are inconsistent, which leads to missing and unreliable information. We assessed the prevalence and frequency of respiratory symptoms and studied differences by age and sex among an unselected population of Swiss people with PCD. Methods: We sent a questionnaire that included items from the FOLLOW–PCD standardised questionnaire to all Swiss PCD registry participants. Results: We received questionnaires from 74 out of 86 (86%) invited persons or their caregivers (age range: 3–73 years; median age: 23), including 68% adults (≥18 years) and 51% females. Among participants, 70 (94%) reported chronic nasal symptoms, most frequently runny nose (65%), blocked nose (55%), or anosmia (38%). Ear pain and hearing problems were reported by 58% of the participants. Almost all (99%) reported cough and sputum production. The most common chronic cough complications were gastroesophageal reflux (n=11; 15%), vomiting (n=8; 11%), and urinary incontinence (n=6; 8%). Only 9 participants (12%) reported frequent wheeze, which occurred mainly during infection or exercise, while 49 persons (66%) reported shortness of breath; 9% even at rest or during daily activities. Older patients reported more frequent nasal symptoms and shortness of breath. We found no difference by sex or ultrastructural ciliary defect. Conclusion: This is the first study that describes patient–reported PCD symptoms. The consistent collection of standardised clinical data will allow us to better characterise the phenotypic variability of the disease and study disease course and prognosis.

scholarly journals Recent advances in paediatric respiratory medicine

2015 ◽  
Vol 101 (2) ◽  
pp. 193-197 ◽  
Author(s):  
Andrew Turnbull ◽  
Ian M Balfour-Lynn
Keyword(s):  
Cystic Fibrosis ◽  
Interstitial Lung Disease ◽  
Lung Disease ◽  
Bronchopulmonary Dysplasia ◽  
Primary Ciliary Dyskinesia ◽  
Respiratory Medicine ◽  
Recent Advances ◽  
Ciliary Dyskinesia

This review highlights important advances in paediatric respiratory medicine since 2014, excluding cystic fibrosis. It focuses mainly on the more common conditions, bronchopulmonary dysplasia, bronchiolitis and preschool wheezing, asthma, pneumonia and sleep, and highlights some of the rarer conditions such as primary ciliary dyskinesia and interstitial lung disease (ILD).

Progression of lung disease in primary ciliary dyskinesia: Is spirometry less accurate than CT?

2011 ◽  
Vol 47 (5) ◽  
pp. 498-504 ◽  
Author(s):  
Marco Maglione ◽  
Andrew Bush ◽  
Silvia Montella ◽  
Carmine Mollica ◽  
Angelo Manna ◽  
...  
Keyword(s):  
Lung Disease ◽  
Primary Ciliary Dyskinesia ◽  
Ciliary Dyskinesia

scholarly journals DIFFERENTIAL DIAGNOSTICS OF CHRONIC BRONCHITIS IN CHILDREN

InterConf ◽  
2021 ◽  
pp. 283-287
Author(s):  
Furkat Shamsiev ◽  
Nilufar Karimova ◽  
Maftuna Karimova ◽  
Shukhrat Esakhanov
Keyword(s):  
Cystic Fibrosis ◽  
Lung Disease ◽  
Chronic Bronchitis ◽  
Primary Ciliary Dyskinesia ◽  
Differential Diagnostics ◽  
Main Form ◽  
Kartagener's Syndrome ◽  
Bronchopulmonary Diseases ◽  
Ciliary Dyskinesia

Currently, the diagnosis of chronic bronchitis as an independent nosological form in children is being improved. This direction provides for the differentiation of chronic bronchitis from other bronchopulmonary diseases occurring with bronchitis syndrome. It is known that chronic bronchitis is a constant companion of bronchiectasis, primary ciliary dyskinesia and its main form - Kartagener's syndrome, and is also one of the manifestations of cystic fibrosis. The viciousness of the development of the bronchopulmonary system (aplasia, hypoplasia of the lungs, Mounier-Kuhn syndrome, Williams-Campbell syndrome, polycystic lung disease, bronchial branching anomalies), as a rule, predisposes to the formation of chronic bronchitis.

Sign in / Sign up

Export Citation Format

Share Document