scholarly journals Current and Future Treatments in Primary Ciliary Dyskinesia

2021 ◽  
Vol 22 (18) ◽  
pp. 9834
Author(s):  
Tamara Paff ◽  
Heymut Omran ◽  
Kim G. Nielsen ◽  
Eric G. Haarman
Keyword(s):  
Primary Ciliary Dyskinesia ◽  
Mucociliary Clearance ◽  
Treatment Guidelines ◽  
Case Reports ◽  
Lung Damage ◽  
Mrna Transcript ◽  
Airway Infections ◽  
Severe Reduction ◽  
Future Treatments ◽  
Ciliary Dyskinesia

Primary ciliary dyskinesia (PCD) is a rare genetic ciliopathy in which mucociliary clearance is disturbed by the abnormal motion of cilia or there is a severe reduction in the generation of multiple motile cilia. Lung damage ensues due to recurrent airway infections, sometimes even resulting in respiratory failure. So far, no causative treatment is available and treatment efforts are primarily aimed at improving mucociliary clearance and early treatment of bacterial airway infections. Treatment guidelines are largely based on cystic fibrosis (CF) guidelines, as few studies have been performed on PCD. In this review, we give a detailed overview of the clinical studies performed investigating PCD to date, including three trials and several case reports. In addition, we explore precision medicine approaches in PCD, including gene therapy, mRNA transcript and read-through therapy.

scholarly journals Evaluation of the pulmonary radioaerosol mucociliary clearance scan as an adjunctive test for the diagnosis of primary ciliary dyskinesia in children

2019 ◽  
Vol 54 (12) ◽  
pp. 2021-2027
Author(s):  
Reza Vali ◽  
Hasan Ghandourah ◽  
Martin Charron ◽  
Kimiya V. Nezhad ◽  
Yusuaf Omarkhail ◽  
...  
Keyword(s):  
Primary Ciliary Dyskinesia ◽  
Mucociliary Clearance ◽  
Ciliary Dyskinesia

scholarly journals Pulmonary radioaerosol mucociliary clearance in primary ciliary dyskinesia

2014 ◽  
Vol 44 (2) ◽  
pp. 533-535 ◽  
Author(s):  
W. T. Walker ◽  
A. Young ◽  
M. Bennett ◽  
M. Guy ◽  
M. Carroll ◽  
...  
Keyword(s):  
Primary Ciliary Dyskinesia ◽  
Mucociliary Clearance ◽  
Ciliary Dyskinesia

Primary ciliary dyskinesia in patients with repeated upper airway infections

1997 ◽  
Vol 117 (2) ◽  
pp. P176-P176
Author(s):  
S MONTEIRO ◽  
A SILVEIRABALBANI ◽  
P NASCIMENTOSALDIVA
Keyword(s):  
Primary Ciliary Dyskinesia ◽  
Upper Airway ◽  
Airway Infections ◽  
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 A retrospective review of Achromobacter species and antibiotic treatments in patients with primary ciliary dyskinesia

2021 ◽  
Vol 18 ◽  
pp. 147997312110616
Author(s):  
Mathias G Holgersen ◽  
June K Marthin ◽  
Helle K Johansen ◽  
Kim G Nielsen
Keyword(s):  
Lung Function ◽  
Primary Ciliary Dyskinesia ◽  
Mucociliary Clearance ◽  
Congenital Disease ◽  
Pulmonary Infections ◽  
Opportunistic Pathogens ◽  
Median Length ◽  
Health Records ◽  
Ciliary Dyskinesia

Objectives: Primary ciliary dyskinesia (PCD) is a rare congenital disease with defective mucociliary clearance causing frequent and often persistent pulmonary infections. Achromobacter species are opportunistic pathogens renowned for the difficulty of effective treatments and deteriorating effects on lung function. We aimed to describe the occurrence, treatment, and rate of successful eradication of Achromobacter species in patients with PCD. Methods: We retrospectively reviewed 18 years of historical microbiological samples and 10 years of electronic health records for PCD patients in Denmark. Results: We included 136 patients. Twenty-six patients had isolates of Achromobacter species. On average, 5% of the cohort had at least one annual isolate. Infections became persistent in 38% with a median length of 6.6 years leading to a significant number of antibiotic treatments. Resistance toward tobramycin and ciprofloxacin was prevalent. Overall, successful eradication was achieved in 62% of patients. We found the course of lung function significantly worse during persistent Achromobacter species infection than during the two preceding years, but not different to the course in unaffected age-matched controls. Conclusion The prevalence of Achromobacter species in patients with PCD is in line with what has been reported in cystic fibrosis and can occur transiently, intermittently, or develop into a serious persistent lung infection associated with long-term antibiotic treatment.

scholarly journals Mice with a Deletion ofRsph1Exhibit a Low Level of Mucociliary Clearance and Develop a Primary Ciliary Dyskinesia Phenotype

2019 ◽  
Vol 61 (3) ◽  
pp. 312-321 ◽  
Author(s):  
Weining Yin ◽  
Alessandra Livraghi-Butrico ◽  
Patrick R. Sears ◽  
Troy D. Rogers ◽  
Kimberlie A. Burns ◽  
...  
Keyword(s):  
Primary Ciliary Dyskinesia ◽  
Mucociliary Clearance ◽  
Low Level ◽  
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.

scholarly journals UA-Zero as a Uranyl Acetate Replacement When Diagnosing Primary Ciliary Dyskinesia by Transmission Electron Microscopy

Diagnostics ◽  
2021 ◽  
Vol 11 (6) ◽  
pp. 1063
Author(s):  
Andreia Lucia Pinto ◽  
Ranjit Kaur Rai ◽  
Amelia Shoemark ◽  
Claire Hogg ◽  
Thomas Burgoyne
Keyword(s):  
Electron Microscopy ◽  
Transmission Electron Microscopy ◽  
Cross Sections ◽  
Primary Ciliary Dyskinesia ◽  
Uranyl Acetate ◽  
Lung Damage ◽  
En Bloc ◽  
Suitable Alternative ◽  
Transmission Electron ◽  
Ciliary Dyskinesia

Primary ciliary dyskinesia (PCD) is a disorder affecting motile cilia. An early accurate diagnosis helps prevent lung damage and preserve lung function. To make a diagnostic assessment, one of the commonly used methods that allows for the examination of ciliary ultrastructure is transmission electron microscopy (TEM). This allows for a quantitative assessment of ciliary components to identify defects associated with PCD. Heavy metal staining is required to provide a contrast when imaging cilia in the TEM. One of the most commonly used stains is uranyl acetate (UA). UA can be applied to cellular material before embedding (en bloc), or to ultrathin sections of embedded samples (grid staining). UA is radioactive and, due to growing safety concerns and restrictions by government bodies, universities and hospitals, it is essential to find a suitable alternative. We show UA-zero (UAZ), when used en bloc, provides a high contrast and is a suitable replacement for UA. PCD diagnostic experts, having reviewed ciliary cross-sections stained with UAZ en bloc, are confident that the staining and PCD defects are readily detectable similar to samples that have been stained with UA.

Mannose-binding lectin 2 gene polymorphism and lung damage in primary ciliary dyskinesia

2014 ◽  
Vol 50 (2) ◽  
pp. 179-186 ◽  
Author(s):  
Massimo Pifferi ◽  
Andrew Bush ◽  
Angela Michelucci ◽  
Maria Di Cicco ◽  
Martina Piras ◽  
...  
Keyword(s):  
Gene Polymorphism ◽  
Primary Ciliary Dyskinesia ◽  
Mannose Binding Lectin ◽  
Lung Damage ◽  
Mannose Binding ◽  
Binding Lectin ◽  
Ciliary Dyskinesia
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