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

Multidisciplinary Respiratory Medicine
Martina ContariniJames D Chalmers

Abstract

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 ...Continue Reading

References

Jul 23, 1976·Science·B A Afzelius
Aug 1, 1995·American Journal of Respiratory and Critical Care Medicine·S A KharitonovP J Barnes
Oct 1, 1996·Archives of Disease in Childhood·I M Balfour-LynnR Dinwiddie
Jul 14, 2000·Acta Oto-laryngologica·J PalmJ Lundberg
Oct 13, 2000·American Journal of Respiratory and Critical Care Medicine·M C PasteurM T Keogan
Dec 9, 2000·American Journal of Respiratory and Critical Care Medicine·H NakanoJ Iwamoto
May 8, 2002·Clinical and Experimental Allergy : Journal of the British Society for Allergy and Clinical Immunology·D ColantonioG K Scadding
Dec 6, 2003·American Journal of Respiratory and Critical Care Medicine·Peadar G NooneMichael R Knowles
May 3, 2006·Respiratory Medicine·Paul T KingPeter W Holmes
Jan 16, 2007·Respiratory Medicine·A ShoemarkR Wilson
Mar 22, 2007·Respiratory Medicine·Zeynep Pinar OnenGülseren Karabiyikoglu
Apr 24, 2007·AJR. American Journal of Roentgenology·Marcus P KennedyPaul L Molina
Dec 19, 2007·Respiratory Medicine·Daniel P SteinfortLloyd Einsiedel
Apr 10, 2009·The European Respiratory Journal·M R LoebingerR Wilson
Jan 1, 2009·Methods in Cell Biology·Heymut Omran, Niki T Loges
Jul 22, 2010·Thorax·M C PasteurUNKNOWN British Thoracic Society Bronchiectasis non-CF Guideline Group
Jul 24, 2010·The European Respiratory Journal·M PifferiA L Boner
May 25, 2011·AJR. American Journal of Roentgenology·Anand DevarajDavid M Hansell
Jul 16, 2011·Annals of Thoracic Medicine·Mehmet Ali HabesogluFusun Oner Eyuboglu
Mar 13, 2012·The European Respiratory Journal·Woolf T WalkerJane S Lucas
Sep 13, 2013·Annals of the American Thoracic Society·Margaret W LeighMichael R Knowles
Nov 16, 2013·The European Respiratory Journal·Miguel Á Martínez-GarcíaCasilda Olveira
Feb 27, 2014·American Journal of Respiratory and Critical Care Medicine·Michael R KnowlesMaimoona A Zariwala
Mar 4, 2015·Pediatric Pulmonology·Nicole BeydonMuriel Le Bourgeois
Mar 20, 2015·American Journal of Respiratory Cell and Molecular Biology·Adrien FrommerHeymut Omran
Mar 31, 2015·Respirology : Official Journal of the Asian Pacific Society of Respirology·Wei-Jie GuanNan-Shan Zhong
May 1, 2015·Respiration; International Review of Thoracic Diseases·Luis MáizMiguel Ángel Martínez-García
Jun 23, 2015·Respirology : Official Journal of the Asian Pacific Society of Respirology·Qian QiYu Li
Jul 4, 2015·G3 : Genes - Genomes - Genetics·Christian R MarshallRaymond H Kim
Aug 22, 2015·The European Respiratory Journal·Felix C RingshausenJessica Rademacher
Sep 30, 2015·Pediatric Pulmonology·Adam J ShapiroUNKNOWN Genetic Disorders of Mucociliary Clearance Consortium
Oct 3, 2015·Annals of the American Thoracic Society·Sara LonniStefano Aliberti

❮ Previous
Next ❯

Citations

Mar 20, 2020·Journal of Clinical Medicine·Miguel Armengot-CarcellerCarmen Carda-Batalla
Jan 31, 2020·European Respiratory Review : an Official Journal of the European Respiratory Society·Michal ShteinbergJames D Chalmers
Aug 29, 2018·Multidisciplinary Respiratory Medicine·Stefano Aliberti, James D Chalmers
Jun 20, 2019·Scientific Reports·Mary Anne Kowal OlmThais Mauad
Jun 17, 2021·Pediatric Pulmonology·Pelin AsfurogluAyse Tana Aslan
Jul 3, 2021·International Journal of Molecular Sciences·Martina OrianoStefano Aliberti
Jul 15, 2021·Seminars in Respiratory and Critical Care Medicine·Francesco AmatiStefano Aliberti
Jul 15, 2021·Seminars in Respiratory and Critical Care Medicine·Amelia Shoemark, Katharine Harman
Sep 25, 2021·BMC Medical Genomics·Gabrielle WhewayJane S Lucas

❮ Previous
Next ❯

Methods Mentioned

BETA
lavage
light microscopy
Light

Clinical Trials Mentioned

NCT02871778

Software Mentioned

PICADAR

Related Concepts

Related Feeds

Apoptosis

Apoptosis is a specific process that leads to programmed cell death through the activation of an evolutionary conserved intracellular pathway leading to pathognomic cellular changes distinct from cellular necrosis

Allergy and Asthma

Allergy and asthma are inflammatory disorders that are triggered by the activation of an allergen-specific regulatory t cell. These t cells become activated when allergens are recognized by allergen-presenting cells. Here is the latest research on allergy and asthma.

Related Papers

La Pediatria medica e chirurgica : Medical and surgical pediatrics
E D'AuriaE Riva
Auris, Nasus, Larynx
Kazuhiko TakeuchiTakao Fujisawa
Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery
Yong-Xiang WeiDe-Min Han
Bratislavské lekárske listy
A KapellerovaI Klacansky
© 2022 Meta ULC. All rights reserved