Spirometric indices in primary ciliary dyskinesia: systematic review and meta-analysis

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Abstract

Primary ciliary dyskinesia (PCD) is a genetic, heterogeneous disease caused by dysfunction of cilia. Evidence is sparse and reports of lung function in PCD patients range from normal to severe impairment. This systematic review and meta-analysis of studies of lung function in PCD patients examines the spirometric indices of PCD patients and differences by age group and sex.

We searched PubMed, Embase and Scopus for studies that described lung function in 10 or more patients with PCD. We performed meta-analyses and meta-regression to explain heterogeneity. We included 24 studies, ranging from 13 to 158 patients per study.

The most commonly reported spirometric indices were forced expiratory volume in 1 s (FEV ₁) and forced vital capacity presented as mean and standard deviation of percent predicted values. We found considerable heterogeneity for both parameters ( I ²=94–96%). The heterogeneity remained when we stratified the analysis by age; however, FEV ₁ in adult patients was lower. Even after taking into account explanatory factors, the largest part of the between-studies variance remained unexplained.

Heterogeneity could be explained by genetic differences between study populations, methodological factors related to the variability of study inclusion criteria or details on the performance and evaluation of lung function measurements that we could not account for. Prospective studies therefore need to use standardised protocols and international reference values. These results underline the possibility of distinct PCD phenotypes as in other chronic respiratory diseases. Detailed characterisation of these phenotypes and related genotypes is needed in order to better understand the natural history of PCD.

Abstract

Spirometric indices of PCD patients vary between published studies, which suggests not only the possibility of methodological differences between centres but also real differences in disease expression based on genotype–phenotype associations http://ow.ly/wopw30nYaJo

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Most cited references 38

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Differences in disease expression between primary ciliary dyskinesia and cystic fibrosis with and without pancreatic insufficiency.

Malena Cohen-Cymberknoh, Natalia Simanovsky, Nurith Hiller … (2014)

Impaired mucociliary clearance causes pulmonary disease in primary ciliary dyskinesia (PCD) and contributes to cystic fibrosis (CF) lung disease. Although the sinopulmonary disease is similar, morbidity and mortality are different. Both patients with PCD and patients with CF with pancreatic sufficiency (CF-PS) show no nutrient malabsorption and are diagnosed at a later age compared with patients with CF with pancreatic insufficiency (CF-PI).

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Structural and functional lung disease in primary ciliary dyskinesia.

Marco Maglione, Silvia Montella, Francesca Santamaria … (2008)

High-resolution CT (HRCT) scan data on primary ciliary dyskinesia (PCD) related lung disease are scarce. We evaluated the lung disease in children and adults with PCD by a modified Brody composite HRCT scan score to assess the prevalence of the structural abnormalities; to evaluate the correlation among HRCT scan scores, spirometry findings, and clinical data; and to compare the PCD scores with those of age-matched and sex-matched cystic fibrosis (CF) patients. Twenty PCD patients (age range, 4.6 to 27.5 years) underwent HRCT scanning, spirometry, and deep throat or sputum culture. A modified Brody score was used to assess bronchiectasis, mucous plugging, peribronchial thickening, parenchyma abnormalities, and mosaic perfusion. The total HRCT scan score was 6% of the maximal score (range, 0.5 to 25.5). Subscores were as follows: bronchiectasis, 5.6%; mucous plugging, 5.6%; peribronchial thickening, 8.3%; parenchyma, 3%; and mosaic perfusion, 0%. The prevalence of lung changes were as follows: bronchiectasis, 80%; peribronchial thickening, 80%; mucous plugging, 75%; parenchyma, 65%; and mosaic perfusion, 45%. Sixteen of 19 PCD patients had positive culture findings, and the most common pathogen found was Haemophilus influenzae (84%). The total HRCT scan score was significantly related to age (p = 0.006), FEV(1) (p = 0.02), and FVC (p = 0.02). The bronchiectasis subscore was significantly related to FEV(1) (p = 0.04) and FVC (p = 0.03). In CF patients, the total HRCT scan score was significantly higher than that in PCD patients (p = 0.02). PCD patients show significantly lower pulmonary HRCT scan scores than CF patients. The PCD total and bronchiectasis scores correlate with spirometry findings. The PCD HRCT scan score might be used for longitudinal assessment and/or represent an outcome surrogate in future studies.

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Nasal and lower airway level of nitric oxide in children with primary ciliary dyskinesia.

Alex Bush, Edward N Wilson, B Karadag … (1999)

Exhaled nitric oxide can be detected in exhaled air and is readily measured by chemiluminescence. It is thought to be involved in both the regulation of ciliary motility and host defence. Recently, upper airway NO has been found to be reduced in a small number of children with primary ciliary dyskinesia (PCD) and its measurement has been recommended as a diagnostic test for this condition. The aim of this study was to compare the levels of NO in the upper and lower airways in a larger number of children with proven PCD with those found in healthy children. Exhaled NO was measured in the upper airway by direct nasal sampling during a breath-hold and in the lower airway as the end-tidal plateau level, using a chemiluminescence NO analyser. Upper airway NO levels were significantly lower in PCD (n = 21) than in the healthy children (n = 60) (mean +/-SD, 97+/-193, 664+/-298 parts per billion (ppb), respectively, p<0.0001). In PCD, the lower airway NO levels were also reduced (2.17+/-1.18, 5.94+/-3.49 ppb, respectively, p<0.0001). The levels were not associated with steroid use and did not correlate with lung function. Although there was some overlap between normal children and those with primary ciliary dyskinesia with regard to lower airway NO, nasal NO discriminated between the two groups in all but one child in each group. Measurement of nasal NO therefore may be a useful screening test for primary ciliary dyskinesia.

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Author and article information

Journal

Journal ID (nlm-ta): ERJ Open Res

Journal ID (iso-abbrev): ERJ Open Res

Journal ID (publisher-id): ERJOR

Journal ID (hwp): erjor

Title: ERJ Open Research

Publisher: European Respiratory Society

ISSN (Electronic): 2312-0541

Publication date Collection: April 2019

Publication date (Electronic): 10 May 2019

Volume: 5

Issue: 2

Electronic Location Identifier: 00231-2018

Affiliations

[1 ]Institute of Social and Preventive Medicine, University of Bern, Bern, Switzerland

[2 ]Paediatric Respiratory Medicine, Children's University Hospital of Bern, University of Bern, Bern, Switzerland

[3 ]Dept of Diagnostic, Interventional and Pediatric Radiology, Inselspital, University of Bern, Bern, Switzerland

Author notes

Myrofora Goutaki, Institute of Social and Preventive Medicine, University of Bern, Finkenhubelweg 11, 3012 Bern, Switzerland. E-mail: myrofora.goutaki@ 123456ispm.unibe.ch

Author information

Florian S. Halbeisen https://orcid.org/0000-0003-2755-9501

Philipp Latzin https://orcid.org/0000-0002-5239-1571

Claudia E. Kuehni https://orcid.org/0000-0001-8957-2002

Myrofora Goutaki https://orcid.org/0000-0001-8036-2092

Article

Publisher ID: 00231-2018

DOI: 10.1183/23120541.00231-2018

PMC ID: 6513038

PubMed ID: 31111042

SO-VID: 83bef341-991e-405c-8fa0-604aac631047

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This article is open access and distributed under the terms of the Creative Commons Attribution Non-Commercial Licence 4.0.

History

Date received : 03 December 2018

Date accepted : 28 February 2019

Funding

Funded by: Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung, open-funder-registry 10.13039/501100001711;

Spirometric indices in primary ciliary dyskinesia: systematic review and meta-analysis

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Most cited references 38

Differences in disease expression between primary ciliary dyskinesia and cystic fibrosis with and without pancreatic insufficiency.

Structural and functional lung disease in primary ciliary dyskinesia.

Nasal and lower airway level of nitric oxide in children with primary ciliary dyskinesia.

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