Dataset Information

Primary Ciliary Dyskinesia in a Portuguese Bronchiectasis Outpatient Clinic.

ABSTRACT: Primary ciliary dyskinesia (PCD) is a rare hereditary condition characterized by decreased mucociliary clearance of the airways and a compromised reproductive system, resulting in male and female infertility. Several mutations with varied clinical and pathological features have been documented, making diagnosis a challenging process. The purpose of this study is to describe the clinical and pathological features of Portuguese patients with PCD and to examine their genetic variants. A retrospective observational analysis was conducted with patients who were being monitored at a bronchiectasis outpatient clinic in 2022 and had a confirmed or high-likelihood diagnosis of PCD. In total, 17 patients were included in the study, with 12 (66.7%) having PCD confirmed and 5 (29.4%) having a high-likelihood diagnosis. Furthermore, 12 patients were subjected to transmission electron microscopy (TEM), with 7 (58.3%) exhibiting one hallmark defect. Genetic test data was obtained for all 17 patients, with 7 of them (41.2%) displaying a pathogenic/likely pathogenic mutation in homozygosity. To summarize, PCD is an uncommon but significant hereditary illness with consequences regarding morbidity and mortality. Despite the lack of a specific treatment, it is critical to confirm the diagnosis with genetic testing in order to effectively manage the disease and its accompanying disorders.

SUBMITTER: Tinoco EM

PROVIDER: S-EPMC10048503 | biostudies-literature | 2023 Feb

REPOSITORIES: biostudies-literature

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Primary Ciliary Dyskinesia in a Portuguese Bronchiectasis Outpatient Clinic.

Tinoco Eduarda Milheiro EM Gigante Ana Rita AR Ferreira Edite E Sanches Inês I Pereira Rute R Sá Rosália R Monteiro Regina R Sousa Mário M Pascoal Ivone I

Genes 20230221 3

Primary ciliary dyskinesia (PCD) is a rare hereditary condition characterized by decreased mucociliary clearance of the airways and a compromised reproductive system, resulting in male and female infertility. Several mutations with varied clinical and pathological features have been documented, making diagnosis a challenging process. The purpose of this study is to describe the clinical and pathological features of Portuguese patients with PCD and to examine their genetic variants. A retrospecti ...[more]

PMID: 36980814

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Project description:BackgroundPrimary ciliary dyskinesia (PCD) is a rare genetic disorder caused by the malfunction of motile cilia and a specific etiology of adult bronchiectasis of unknown prevalence. A better understanding of the clinical phenotype of adults with PCD is needed to identify individuals for referral to diagnostic testing.Research questionWhat is the frequency of PCD among adults with bronchiectasis; how do people with PCD differ from those with other etiologies; and which clinical characteristics are independently associated with PCD?Study design and methodsWe investigated the proportion of PCD among the participants of the Prospective German Non-CF-Bronchiectasis Registry (PROGNOSIS) study; applied multiple imputation to account for missing data in 64 (FEV1), 58 (breathlessness), 26 (pulmonary exacerbations), and two patients (BMI), respectively; and identified predictive variables from baseline data using multivariate logistic regression analysis.ResultsWe consecutively recruited 1,000 patients from 38 centers across all levels of the German health care system. Overall, PCD was the fifth most common etiology of bronchiectasis in 87 patients (9%) after idiopathic, postinfective, COPD, and asthma. People with PCD showed a distinct clinical phenotype. In multivariate regression analysis, the chance of PCD being the etiology of bronchiectasis increased with the presence of upper airway disease (chronic rhinosinusitis and/or nasal polyps; adjusted OR [aOR], 6.3; 95% CI, 3.3-11.9; P < .001), age < 53 years (aOR, 5.3; 95% CI, 2.7-10.4; P < .001), radiologic involvement of any middle and lower lobe (aOR, 3.7; 95% CI, 1.3-10.8; P = .016), duration of bronchiectasis > 15 years (aOR, 3.6; 95% CI, 1.9-6.9; P < .001), and a history of Pseudomonas aeruginosa isolation from respiratory specimen (aOR, 2.4; 95% CI, 1.3-4.5; P = .007).InterpretationWithin our nationally representative cohort, PCD was a common etiology of bronchiectasis. We identified few easy-to-assess phenotypic features, which may promote awareness for PCD among adults with bronchiectasis.Clinical trial registrationClinicalTrials.gov; No.: NCT02574143; URL: www.Clinicaltrialsgov.

Project description:Bronchiectasis represents the final pathway of several infectious, genetic, immunologic or allergic disorders. Accurate and prompt identification of the underlying cause is a key recommendation of several international guidelines, in order to tailor treatment appropriately. Primary ciliary dyskinesia (PCD) is a genetic cause of bronchiectasis in which failure of motile cilia leads to poor mucociliary clearance. Due to poor ciliary function in other organs, individuals can suffer from chronic rhinosinusitis, otitis media and infertility. This paper explores the current literature describing why, when and how to investigate PCD in adult patients with bronchiectasis. We describe the main PCD diagnostic tests and compare the two international PCD diagnostic guidelines. The expensive multi-test diagnostic approach requiring a high level of expertise and specialist equipment, make the multifaceted PCD diagnostic pathway complex. Therefore, the risk of late or missed diagnosis is high and has clinical and research implications. Defining the number of patients with bronchiectasis due to PCD is complex. To date, few studies outlining the aetiology of adult patients with bronchiectasis conduct screening tests for PCD, but they do differ in their diagnostic approach. Comparison of these studies reveals an estimated PCD prevalence of 1-13% in adults with bronchiectasis and describe patients as younger than their counterparts with moderate impairment of lung function and higher rates of chronic infection with Pseudomonas aeruginosa. Diagnosing PCD has clinical, socioeconomic and psychological implications, which affect patients' life, including the possibility to have a specific and multidisciplinary team approach in a PCD referral centre, as well as a genetic and fertility counselling and special legal aspects in some countries. To date no specific treatments for PCD have been approved, standardized diagnostic protocols for PCD and recent diagnostic guidelines will be helpful to accurately define a population on which planning RCT studies to evaluate efficacy, safety and accuracy of PCD specific treatments.

Project description:ObjectiveThis study compares and contrasts the clinical features of non-cystic fibrosis bronchiectasis with 3 uncommon disorders known to be associated with bronchiectasis but with distinctly different underlying defined pathophysiologic derangements, namely severe alpha-1 antitrypsin deficiency (AATD), common variable immunodeficiency (CVI) and primary ciliary dyskinesia (PCD).MethodsThe Bronchiectasis Research Registry provides a central database for studying patients with non-cystic fibrosis bronchiectasis. This report consists of information from 13 U.S. sites pertaining to the 3 study diagnoses. Patients with AATD (SZ and ZZ phenotypes only), CVI (patients with IgG≤500), PCD (history of physician diagnosed Kartagener's syndrome or PCD), and patients with confirmed absence of the above 3 diagnoses (idiopathic control group) were included in the study. Descriptive statistics were computed for the main demographic and clinical characteristics of the sample stratified by group. Values between the groups were compared using Kruskal-Wallis test, and Chi-squared/ Fisher's exact tests respectively. The significance level was set at 0.05. Software SAS 9.4 was used to perform the statistical analyses.ResultsOf the 2170 participants in the database enrolled as of January 2017, 615 respondents had sufficient data and were included in the analyses. Patients with PCD (n=79, mean age 41.9 years [standard deviation (SD)=14.5]) were significantly younger than patients with AATD (n=58, mean age 66.9 [SD=10.7]), CVI (n=18, mean age 66.7 years [SD=10.5]) or the idiopathic group (n=460, mean age 64.2 [SD=15.9]), p<.0001. Compared to other groups, those with PCD had lower pulmonary function (forced expiratory volume in 1 second [FEV1] forced vital capacity [FVC] and FEV1/FVC ratio) (p<0.01), and a greater proportion of them reported having exacerbations and/or hospitalizations in the past 2 years (p<0.01). Overall, Pseudomonas aeruginosa and Staphylococcus aureus were the organisms most commonly isolated from sputum. Mycobacterial infection was most commonly reported in those with AATD.ConclusionThis report from the U.S. Bronchiectasis Research Registry compares and contrasts differences in the clinical features of patients suffering from 3 rare conditions, with different underlying causes, to those without. The group with PCD had more symptoms, greater morbidity, lower lung function and more commonly were infected by Pseudomonas aeruginosa. A greater percentage of those with AATD reported mycobacterial lung involvement.

Dataset Information

Primary Ciliary Dyskinesia in a Portuguese Bronchiectasis Outpatient Clinic.

Publications

Primary Ciliary Dyskinesia in a Portuguese Bronchiectasis Outpatient Clinic.

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