scholarly journals Why, when and how to investigate primary ciliary dyskinesia in adult patients with bronchiectasis

2019 ◽  
Author(s):  
Martina Contarini ◽  
Amelia Shoemark ◽  
Jessica Rademacher ◽  
Simon Finch ◽  
Andrea Gramegna ◽  
...  
Keyword(s):  
Primary Ciliary Dyskinesia ◽  
Legal Aspects ◽  
Adult Patients ◽  
Diagnostic Approach ◽  
Screening Tests ◽  
Team Approach ◽  
Number Of Patients ◽  
Missed Diagnosis ◽  
High Level ◽  
Ciliary Dyskinesia

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.

scholarly journals Etiological Work-Up for Adults with Bronchiectasis: A Predictive Diagnostic Score for Primary Ciliary Dyskinesia and Cystic Fibrosis

2021 ◽  
Vol 10 (16) ◽  
pp. 3478
Author(s):  
Frederic Schlemmer ◽  
Agnes Hamzaoui ◽  
Sonia Zebachi ◽  
Aurelie Le Thuaut ◽  
Gilles Mangiapan ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Primary Ciliary Dyskinesia ◽  
Clinical Score ◽  
Adult Patients ◽  
Operating Characteristics ◽  
Diagnostic Score ◽  
Receiver Operating Characteristics Curve ◽  
Diagnostic Work ◽  
Work Up ◽  
Ciliary Dyskinesia

Background: etiological investigations are not done for all adult patients with bronchiectasis because of the availability and interpretation of tests. The aim of the study was to elaborate a score to identify patients at high risk of having cystic fibrosis or primary ciliary dyskinesia (CF/PCD), which require appropriate management. Methods: diagnostic work-ups were carried out on a French monocenter cohort, and results were subjected to logistic-regression analyses to identify the independent factors associated with CF/PCD diagnosis and, thereby, elaborate a score to validate in a second cohort. Results: among 188 patients, 158 had no obvious diagnosis and were enrolled in the algorithm-construction group. In multivariate analyses, age at symptom onset (8.69 (2.10–35.99); p = 0.003), chronic ENT symptoms or diagnosed sinusitis (10.53 (1.26–87.57); p = 0.03), digestive symptoms or situs inversus (5.10 (1.23–21.14); p = 0.025), and Pseudomonas. aeruginosa and/or Staphylococcus aureus isolated from sputum (11.13 (1.34–92.21); p = 0.02) are associated with CF or PCD. Receiver operating characteristics curve analysis, using a validation group of 167 patients with bronchiectasis, confirmed the score’s performance with AUC 0.92 (95% CI: 0.84–0.98). Conclusions: a clinical score may help identify adult patients with bronchiectasis at higher risk of having CF or PCD.

Primary ciliary dyskinesia diagnosis in adult patients with bronchiectasis in Sao Paulo, Brazil.

2018 ◽  
Author(s):  
Mary Anne Kowal Olm ◽  
Rodrigo Abensur Athanazio ◽  
Samia Rached ◽  
Niki Tomas Loges ◽  
Heymut Omran ◽  
...  
Keyword(s):  
Primary Ciliary Dyskinesia ◽  
Sao Paulo ◽  
Adult Patients ◽  
São Paulo ◽  
Ciliary Dyskinesia

scholarly journals Congenital problems of mucociliary clearance: primary ciliary dyskinesia

2012 ◽  
Vol 50 (4) ◽  
pp. 353-359
Author(s):  
J. Rimmer
Keyword(s):  
Cystic Fibrosis ◽  
Primary Ciliary Dyskinesia ◽  
Mucociliary Clearance ◽  
Diagnostic Approach ◽  
Defence Mechanism ◽  
Congenital Diseases ◽  
Ciliary Dyskinesia

Mucociliary clearance is a primary defence mechanism of the airway that can be altered in congenital diseases such as primary ciliary dyskinesia and cystic fibrosis, as well as acquired conditions. This article focuses on primary ciliary dyskinesia and the diagnostic approach to it, which is still evolving.

scholarly journals PRIMARY CILIARY DYSKINESIA IMMOTILE CILIA SYNDROME

2019 ◽  
Vol 20 (4) ◽  
pp. 237-245
Author(s):  
Yulia A. Tsareva ◽  
N. I. Zryachkin ◽  
M. A. Kuznetsova
Keyword(s):  
Primary Ciliary Dyskinesia ◽  
High Speed ◽  
Hereditary Disease ◽  
Screening Tests ◽  
Cell Culture Study ◽  
Immotile Cilia ◽  
Transmission Electron ◽  
Tract Infections ◽  
Ciliary Dyskinesia

Primary ciliary dyskinesia (PCD) is a genetically heterogeneous hereditary disease characterized by recurrent respiratory tract infections, decreased fertility, and situs inversus in 50% of cases. The core of the syndrome is the disturbance of mucociliary clearance due to the lack or defect of cilia leading to their partial or complete immobility. There are some tests for diagnostic PCD with specific benefits and limitations, but there is still no diagnostic «gold standard» yet. Identification of nitric oxide and nasal clearance of dye or saccharin are widely used as screening tests. Clearance of 99Tc-labeled colloidal albumin, high-speed video microscopy and transmission electron microscopy, the cell culture study and genetic testing are methods for the verification. Late identification of PCD is reported worldwide. There are no methods to control the development of PCD complications. The important role is played by the long-term and constant follow up (including spirometry, evaluation of pulmonary clearance and X-ray scanning).

Vestibular function in adult patients with primary ciliary dyskinesia

2021 ◽  
Author(s):  
Niels Otto Stahl Winthereik ◽  
Mikkel Christian Alanin ◽  
Kim Gjerum Nielsen ◽  
Christian Von Buchwald ◽  
Sune Land Bloch
Keyword(s):  
Primary Ciliary Dyskinesia ◽  
Vestibular Function ◽  
Adult Patients ◽  
Ciliary Dyskinesia

scholarly journals Diagnosis of primary ciliary dyskinesia

2015 ◽  
Vol 41 (3) ◽  
pp. 251-263 ◽  
Author(s):  
Mary Anne Kowal Olm ◽  
Elia Garcia Caldini ◽  
Thais Mauad
Keyword(s):  
Primary Ciliary Dyskinesia ◽  
Bacterial Colonization ◽  
Genetic Disorder ◽  
Signs And Symptoms ◽  
Screening Tests ◽  
Lower Airway ◽  
Airway Infections ◽  
Means Of Transmission ◽  
Respiratory Signs And Symptoms ◽  
Ciliary Dyskinesia

Primary ciliary dyskinesia (PCD) is a genetic disorder of ciliary structure or function. It results in mucus accumulation and bacterial colonization of the respiratory tract which leads to chronic upper and lower airway infections, organ laterality defects, and fertility problems. We review the respiratory signs and symptoms of PCD, as well as the screening tests for and diagnostic investigation of the disease, together with details related to ciliary function, ciliary ultrastructure, and genetic studies. In addition, we describe the difficulties in diagnosing PCD by means of transmission electron microscopy, as well as describing patient follow-up procedures.

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