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

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 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.

Primary Ciliary Dyskinesia and Nasal Mucociliary Clearance

Respiration ◽  
1987 ◽  
Vol 52 (1) ◽  
pp. 69-75 ◽  
Author(s):  
S. van der Baan ◽  
A.J.P. Veermarn ◽  
G.A.K. Heidendahl ◽  
W. den Hollander ◽  
L. Feenstra
Keyword(s):  
Primary Ciliary Dyskinesia ◽  
Mucociliary Clearance ◽  
Ciliary Dyskinesia ◽  
Nasal Mucociliary Clearance

Pulmonary Radioaerosol Mucociliary Clearance in Diagnosis of Primary Ciliary Dyskinesia

CHEST Journal ◽  
2007 ◽  
Vol 132 (3) ◽  
pp. 966-976 ◽  
Author(s):  
June Kehlet Marthin ◽  
Jann Mortensen ◽  
Tacjana Pressler ◽  
Kim Gjerum Nielsen
Keyword(s):  
Primary Ciliary Dyskinesia ◽  
Mucociliary Clearance ◽  
Ciliary Dyskinesia

Primary Ciliary Dyskinesia

2021 ◽  
Vol 42 (04) ◽  
pp. 537-548
Author(s):  
Amelia Shoemark ◽  
Katharine Harman
Keyword(s):  
Primary Ciliary Dyskinesia ◽  
Mucociliary Clearance ◽  
Controlled Trial ◽  
Clinical Care ◽  
Clinical Manifestations ◽  
Multidisciplinary Care ◽  
Multiple Roles ◽  
Complex Congenital Heart Disease ◽  
Motile Cilia ◽  
Ciliary Dyskinesia

AbstractPrimary ciliary dyskinesia (PCD) is an inherited cause of bronchiectasis. The estimated PCD prevalence in children with bronchiectasis is up to 26% and in adults with bronchiectasis is 1 to 13%. Due to dysfunction of the multiple motile cilia of the respiratory tract patients suffer from poor mucociliary clearance. Clinical manifestations are heterogeneous; however, a typical patient presents with chronic productive cough and rhinosinusitis from early life. Other symptoms reflect the multiple roles of motile cilia in other organs and can include otitis media and hearing loss, infertility, situs inversus, complex congenital heart disease, and more rarely other syndromic features such as hydrocephalus and retinitis pigmentosa. Awareness, identification, and diagnosis of a patient with PCD are important for multidisciplinary care and genetic counseling. Diagnosis can be pursued through a multitest pathway which includes the measurement of nasal nitric oxide, sampling the nasal epithelium to assess ciliary function and structure, and genotyping. Diagnosis is confirmed by the identification of a hallmark ultrastructural defect or pathogenic mutations in one of > 45 PCD causing genes. When a diagnosis is established management is centered around improving mucociliary clearance through physiotherapy and treatment of infection with antibiotics. The first international randomized controlled trial in PCD has recently been conducted showing azithromycin is effective in reducing exacerbations. It is likely that evidence-based PCD-specific management guidelines and therapies will be developed in the near future. This article examines prevalence, clinical features, diagnosis, and management of PCD highlighting recent advances in basic science and clinical care.

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