Growth and nutritional status, and their association with lung function: a study from the international Primary Ciliary Dyskinesia Cohort

Chronic respiratory disease can affect growth and nutrition, which can influence lung function. We investigated height, body mass index (BMI), and lung function in patients with primary ciliary dyskinesia (PCD).In this study, based on the international PCD (iPCD) Cohort, we calculated z-scores for height and BMI using World Health Organization (WHO) and national growth references, and assessed associations with age, sex, country, diagnostic certainty, age at diagnosis, organ laterality and lung function in multilevel regression models that accounted for repeated measurements.We analysed 6402 measurements from 1609 iPCD Cohort patients. Height was reduced compared to WHO (z-score −0.12, 95% CI −0.17 to −0.06) and national references (z-score −0.27, 95% CI −0.33 to −0.21) in male and female patients in all age groups, with variation between countries. Height and BMI were higher in patients diagnosed earlier in life (p=0.026 and p<0.001, respectively) and closely associated with forced expiratory volume in 1 s and forced vital capacity z-scores (p<0.001).Our study indicates that both growth and nutrition are affected adversely in PCD patients from early life and are both strongly associated with lung function. If supported by longitudinal studies, these findings suggest that early diagnosis with multidisciplinary management and nutritional advice could improve growth and delay disease progression and lung function impairment in PCD.

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Prevalence and course of disease after lung resection in primary ciliary dyskinesia: a cohort & nested case-control study

Respiratory Research ◽

10.1186/s12931-019-1183-y ◽

2019 ◽

Vol 20 (1) ◽

Cited By ~ 5

Author(s):

Panayiotis Kouis ◽

◽

Myrofora Goutaki ◽

Florian S. Halbeisen ◽

Ifigeneia Gioti ◽

...

Keyword(s):

Lung Function ◽

Primary Ciliary Dyskinesia ◽

Statistical Significance ◽

Lung Resection ◽

Delayed Diagnosis ◽

Therapeutic Modality ◽

Z Score ◽

Situs Solitus ◽

Z Scores ◽

Ciliary Dyskinesia

Abstract Background Lung resection is a controversial and understudied therapeutic modality in Primary Ciliary Dyskinesia (PCD). We assessed the prevalence of lung resection in PCD across countries and compared disease course in lobectomised and non-lobectomised patients. Methods In the international iPCD cohort, we identified lobectomised and non-lobectomised age and sex-matched PCD patients and compared their characteristics, lung function and BMI cross-sectionally and longitudinally. Results Among 2896 patients in the iPCD cohort, 163 from 20 centers (15 countries) underwent lung resection (5.6%). Among adult patients, prevalence of lung resection was 8.9%, demonstrating wide variation among countries. Compared to the rest of the iPCD cohort, lobectomised patients were more often females, older at diagnosis, and more often had situs solitus. In about half of the cases (45.6%) lung resection was performed before presentation to specialized PCD centers for diagnostic work-up. Compared to controls (n = 197), lobectomised patients had lower FVC z-scores (− 2.41 vs − 1.35, p = 0.0001) and FEV1 z-scores (− 2.79 vs − 1.99, p = 0.003) at their first post-lung resection assessment. After surgery, lung function continued to decline at a faster rate in lobectomised patients compared to controls (FVC z-score slope: − 0.037/year Vs − 0.009/year, p = 0.047 and FEV1 z-score slope: − 0.052/year Vs − 0.033/year, p = 0.235), although difference did not reach statistical significance for FEV1. Within cases, females and patients with multiple lobe resections had lower lung function. Conclusions Prevalence of lung resection in PCD varies widely between countries, is often performed before PCD diagnosis and overall is more frequent in patients with delayed diagnosis. After lung resection, compared to controls most lobectomised patients have poorer and continuing decline of lung function despite lung resection. Further studies benefiting from prospective data collection are needed to confirm these findings.

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Lung function from school age to adulthood in primary ciliary dyskinesia

10.1101/2021.07.08.21260172 ◽

2021 ◽

Author(s):

Florian S Halbeisen ◽

Myrofora Goutaki ◽

Eva Sophie L Pedersen ◽

Ben D Spycher ◽

Israel Amirav ◽

...

Keyword(s):

Lung Function ◽

Primary Ciliary Dyskinesia ◽

Forced Expiratory Volume ◽

Linear Regression Models ◽

Adult Age ◽

Diagnostic Certainty ◽

Z Scores ◽

Low Bmi ◽

Ciliary Dyskinesia ◽

Over Time

Abstract Primary ciliary dyskinesia (PCD) presents with symptoms early in life and the disease course may be progressive, but longitudinal data on lung function are scarce. This multinational cohort study describes lung function trajectories in children, adolescents, and young adults with PCD. We analysed data from 486 patients with repeated lung function measurements obtained between the age of 6 and 24 years from the international PCD Cohort (iPCD) and calculated z-scores for forced expiratory volume in the first second (FEV1) and forced vital capacity (FVC) using the Global Lung Function Initiative 2012 references. We described baseline lung function and change of lung function over time and described their associations with possible determinants in mixed-effects linear regression models. Overall, FEV1 and FVC z-scores declined over time (average crude annual FEV1 decline was -0.07 z-scores) but not at the same rate for all patients. FEV1 z-scores improved over time in 21% of patients, remained stable in 40% and declined in 39%. Low BMI was associated with poor baseline lung function and with further decline. Results differed by country and ultrastructural defect, but we found no evidence of differences by sex, calendar year of diagnosis, age at diagnosis, diagnostic certainty, or laterality defect. Our study shows that on average lung function in PCD declines throughout the entire period of lung growth, from childhood to young adult age, even among patients treated in specialized centres. It is essential to develop strategies to reverse this tendency and improve prognosis.

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Faculty Opinions recommendation of Lung function in patients with primary ciliary dyskinesia: a cross-sectional and 3-decade longitudinal study.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.725182309.793504017 ◽

2015 ◽

Author(s):

Nicholas Katsanis

Keyword(s):

Longitudinal Study ◽

Lung Function ◽

Primary Ciliary Dyskinesia ◽

Cross Sectional ◽

Ciliary Dyskinesia

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Clinical features and management of children with primary ciliary dyskinesia in England

Archives of Disease in Childhood ◽

10.1136/archdischild-2019-317687 ◽

2020 ◽

Vol 105 (8) ◽

pp. 724-729 ◽

Cited By ~ 3

Author(s):

Bruna Rubbo ◽

Sunayna Best ◽

Robert Anthony Hirst ◽

Amelia Shoemark ◽

Patricia Goggin ◽

...

Keyword(s):

Lung Function ◽

Hearing Impairment ◽

Hearing Aids ◽

Primary Ciliary Dyskinesia ◽

Service Evaluation ◽

Forced Expiratory Volume ◽

Management Service ◽

National Data ◽

Randomised Controlled ◽

Ciliary Dyskinesia

ObjectiveIn England, the National Health Service commissioned a National Management Service for children with primary ciliary dyskinesia (PCD). The aims of this study were to describe the health of children seen in this Service and compare lung function to children with cystic fibrosis (CF).DesignMulti-centre service evaluation of the English National Management PCD Service.SettingFour nationally commissioned PCD centres in England.Patients333 children with PCD reviewed in the Service in 2015; lung function data were also compared with 2970 children with CF.ResultsMedian age at diagnosis for PCD was 2.6 years, significantly lower in children with situs inversus (1.0 vs 6.0 years, p<0.001). Compared with national data from the CF Registry, mean (SD) %predicted forced expiratory volume in one second (FEV1) was 76.8% in PCD (n=240) and 85.0% in CF, and FEV1 was lower in children with PCD up to the age of 15 years. Approximately half of children had some hearing impairment, with 26% requiring hearing aids. Children with a lower body mass index (BMI) had lower FEV1 (p<0.001). One-third of children had positive respiratory cultures at review, 54% of these grew Haemophilus influenzae.ConclusionsWe provide evidence that children with PCD in England have worse lung function than those with CF. Nutritional status should be considered in PCD management, as those with a lower BMI have significantly lower FEV1. Hearing impairment is common but seems to improve with age. Well-designed and powered randomised controlled trials on management of PCD are needed to inform best clinical practice.

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Sinus surgery can improve quality of life, lung infections, and lung function in patients with primary ciliary dyskinesia

International Forum of Allergy & Rhinology ◽

10.1002/alr.21873 ◽

2016 ◽

Vol 7 (3) ◽

pp. 240-247 ◽

Cited By ~ 22

Author(s):

Mikkel Christian Alanin ◽

Kasper Aanaes ◽

Niels Høiby ◽

Tania Pressler ◽

Marianne Skov ◽

...

Keyword(s):

Quality Of Life ◽

Lung Function ◽

Primary Ciliary Dyskinesia ◽

Sinus Surgery ◽

Improve Quality ◽

Lung Infections ◽

Ciliary Dyskinesia

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Predicted Values for Spirometry may Underestimate Long-Standing Asthma Severity

The Open Respiratory Medicine Journal ◽

10.2174/1874306401610010070 ◽

2016 ◽

Vol 10 (1) ◽

pp. 70-78 ◽

Cited By ~ 1

Author(s):

Bruno Sposato

Keyword(s):

Lung Function ◽

Reference Point ◽

Asthma Severity ◽

Normal Lung ◽

Bronchial Obstruction ◽

Z Score ◽

Lung Function Decline ◽

Normal Lung Function ◽

Z Scores ◽

Predicted Values

Background: Asthma may show an accelerated lung function decline. Asthmatics, although having FEV1 and FEV1/VC (and z-scores) higher than the lower limit of normality, may show a significant FEV1 decline when compared to previous measurements. We assessed how many asymptomatic long-standing asthmatics (LSA) with normal lung function showed a significant FEV1 decline when an older FEV1 was taken as reference point. Methods: 46 well-controlled LSA (age: 48.8±12.1; 23 females) with normal FEV1 and FEV1/VC according to GLI2012 references (FEV1: 94.8±10.1%, z-score:-0.38±0.79; FEV1/VC: 79.3±5.2, z-score:-0.15±0.77) were selected. We considered FEV1 decline, calculated by comparing the latest value to one at least five years older or to the highest predicted value measured at 21 years for females and 23 for males. A FEV1 decline >15% or 30 ml/years was regarded as pathological. Results: When comparing the latest FEV1 to an at least 5-year-older one (mean 8.1±1.4 years between 2 measurements), 14 subjects (30.4%) showed a FEV1 decline <5% (mean: -2.2±2.6%), 19 (41.3%) had a FEV1 5-15% change (mean: -9.2±2.5%) and 13 (28.3%) a FEV1 decrease>15% (mean: -18.3±2.4). Subjects with a FEV1 decline>30 ml/year were 28 (60.8%). When using the highest predicted FEV1 as reference point and declines were corrected by subtracting the physiological decrease, 6 (13%) patients showed a FEV1 decline higher than 15%, whereas asthmatics with a FEV1 loss>30 ml/year were 17 (37%). Conclusion: FEV1 decline calculation may show how severe asthma actually is, avoiding a bronchial obstruction underestimation and a possible under-treatment in lots of apparent “well-controlled” LSA with GLI2012-normal-range lung function values.

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Longitudinal study of lung function in a cohort of primary ciliary dyskinesia

CrossRef Listing of Deleted DOIs ◽

10.1183/09031936.97.10102376 ◽

1997 ◽

Vol 10 (10) ◽

pp. 2376-2379 ◽

Cited By ~ 179

Author(s):

A. Ellerman ◽

H. Bisgaard

Keyword(s):

Longitudinal Study ◽

Lung Function ◽

Primary Ciliary Dyskinesia ◽

Ciliary Dyskinesia

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Metabolic Outcomes in Southern Italian Preadolescents Residing Near an Industrial Complex: The Role of Residential Location and Socioeconomic Status

International Journal of Environmental Research and Public Health ◽

10.3390/ijerph16112036 ◽

2019 ◽

Vol 16 (11) ◽

pp. 2036

Author(s):

Esha Bansal ◽

Donatella Placidi ◽

Shaye Carver ◽

Stefano Renzetti ◽

Augusto Giorgino ◽

...

Keyword(s):

Socioeconomic Status ◽

Maternal Education ◽

Venous Blood ◽

Fasting Blood Glucose ◽

Residential Location ◽

World Health ◽

Industrial Complex ◽

Z Score ◽

Metabolic Outcomes ◽

Z Scores

Evidence suggests that environmental exposures and socioeconomic factors may interact to produce metabolic changes in children. We assessed the influence of residential location and socioeconomic status (SES) on pediatric body mass index (BMI) Z-score and fasting blood glucose (FBG) concentration. Participants included 214 children aged 6–11 years who live near a large industrial complex in Taranto, Italy. Participants were grouped into residential zones based on the distance between their home address and the complex periphery (Zone 1: 0.000–4.999 km, Zone 2: 5.000–9.999 km, Zone 3: 10.000–15.000 km). BMI Z-scores were calculated via World Health Organization (WHO) pediatric reference curves. FBG was obtained via venous blood sampling. Closer residential location to the industrial complex on the order of 5.000 km was significantly associated with worsened metabolic outcomes, particularly in female children. Zone 1 participants had higher BMI-adjusted FBG than Zone 2 and 3 participants (p < 0.05 versus Zone 2; p < 0.01 versus Zone 3). SES did not significantly influence BMI-adjusted FBG. Moreover, BMI Z-scores indicated high rates of overweight (22.0%) and obesity (22.9%) in the cohort. BMI Z-score was not significantly associated with SES or residential zone but was negatively associated with maternal education level (p < 0.05). These results offer new evidence that residing near industrial activity may predict adverse effects on child metabolic health.

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A Revised Protocol for Culture of Airway Epithelial Cells as a Diagnostic Tool for Primary Ciliary Dyskinesia

Journal of Clinical Medicine ◽

10.3390/jcm9113753 ◽

2020 ◽

Vol 9 (11) ◽

pp. 3753

Author(s):

Janice L. Coles ◽

James Thompson ◽

Katie L. Horton ◽

Robert A. Hirst ◽

Paul Griffin ◽

...

Keyword(s):

Epithelial Cells ◽

Primary Ciliary Dyskinesia ◽

High Speed ◽

Ex Vivo ◽

Cell Damage ◽

Airway Epithelial Cells ◽

University Hospital ◽

Mitigation Measures ◽

Diagnostic Certainty ◽

Ciliary Dyskinesia

Air–liquid interface (ALI) culture of nasal epithelial cells is a valuable tool in the diagnosis and research of primary ciliary dyskinesia (PCD). Ex vivo samples often display secondary dyskinesia from cell damage during sampling, infection or inflammation confounding PCD diagnostic results. ALI culture enables regeneration of healthy cilia facilitating differentiation of primary from secondary ciliary dyskinesia. We describe a revised ALI culture method adopted from April 2018 across three collaborating PCD diagnostic sites, including current University Hospital Southampton COVID-19 risk mitigation measures, and present results. Two hundred and forty nasal epithelial cell samples were seeded for ALI culture and 199 (82.9%) were ciliated. Fifty-four of 83 (63.9%) ex vivo samples which were originally equivocal or insufficient provided diagnostic information following in vitro culture. Surplus basal epithelial cells from 181 nasal brushing samples were frozen in liquid nitrogen; 39 samples were ALI-cultured after cryostorage and all ciliated. The ciliary beat patterns of ex vivo samples (by high-speed video microscopy) were recapitulated, scanning electron microscopy demonstrated excellent ciliation, and cilia could be immuno-fluorescently labelled (anti-alpha-tubulin and anti-RSPH4a) in representative cases that were ALI-cultured after cryostorage. In summary, our ALI culture protocol provides high ciliation rates across three centres, minimising patient recall for repeat brushing biopsies and improving diagnostic certainty. Cryostorage of surplus diagnostic samples was successful, facilitating PCD research.

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