Michele Arigliani

Rationale: Primary ciliary dyskinesia (PCD) is a heterogeneous genetic disorder characterized by structural and functional abnormalities of motile cilia, leading to chronic oto‐sino‐pulmonary symptoms and progressive lung damage. Markers of early lung disease in PCD may help to identify individuals who may benefit from closer monitoring or earlier, more aggressive interventions. Multiple Breath Washout (MBW) offers a noninvasive assessment of ventilation distribution inhomogeneity. Whether MBW could serve as a marker of early lung disease in PCD or could be used as an efficacy endpoint in clinical trials in PCD remains to be established. Methods: This narrative review evaluates current literature on the role of MBW in early detection and tracking of PCD‐related lung disease progression, focusing on its sensitivity compared to spirometry and to the results obtained in different PCD genotypes and phenotypes. Results: Current evidence suggests that LCI outperforms spirometry in detecting early lung abnormalities, but it may also be overly sensitive in this population. The role of LCI in long‐term monitoring remains uncertain, requiring more longitudinal data. Alternative MBW indices, such as S _cond and S _acin , might offer additional insights into the source of ventilation heterogeneity but need further validation. Correlation of MBW with imaging is inconsistent, underscoring the need for integrated approaches. Conclusion: MBW, particularly LCI, shows promise as a noninvasive sensitive marker of early lung disease in PCD. However, its long‐term utility in tracking PCD lung disease remain unclear. Further genotype‐stratified, longitudinal studies are needed to confirm its clinical value and optimize its application in PCD management

Primary ciliary dyskinesia (PCD) is a heterogeneous genetic disorder characterized by structural and functional abnormalities of motile cilia, leading to chronic oto-sino-pulmonary symptoms and progressive lung damage. Markers of early lung disease in PCD may help to identify individuals who may benefit from closer monitoring or earlier, more aggressive interventions. Multiple Breath Washout (MBW) offers a noninvasive assessment of ventilation distribution inhomogeneity. Whether MBW could serve as a marker of early lung disease in PCD or could be used as an efficacy endpoint in clinical trials in PCD remains to be established. This narrative review evaluates current literature on the role of MBW in early detection and tracking of PCD-related lung disease progression, focusing on its sensitivity compared to spirometry and to the results obtained in different PCD genotypes and phenotypes. Current evidence suggests that LCI outperforms spirometry in detecting early lung abnormalities, but it may also be overly sensitive in this population. The role of LCI in long-term disease monitoring remains uncertain, requiring more robust longitudinal data. Alternative MBW indices, such as S _cond and S _acin , might offer additional insights into the source of ventilation heterogeneity along the respiratory tract but need further validation. The correlation of MBW with imaging modalities, though inconsistent, underscores the potential value of LCI as a non-invasive marker for tracking PCD lung disease, supporting further research to confirm its clinical utility in PCD management.

Background: Previous research showed that lung function abnormalities are common in infants with cystic fibrosis (IwCF) but real‐world data are missing. Methods: This single‐center retrospective study analyzed infant lung function results from IwCF born in 2012–2018. The tests were conducted at Great Ormond Street Hospital, London, as part of routine care at 3 months, 1 year, and 2 years of age. Z‐scores for SF ₆ Lung Clearance Index (zLCI), plethysmographic FRC (zFRC _pleth ) and FEV _0.5 were derived. Microbiology and antibiotics prescription from 3 months before lung function assessments, up to the closest medical review following the lung function encounter, were analyzed, along with changes in management advised by the physician. Results: A total of 126 lung function encounters ( n = 43 at 3 months, 46 at 1 year, 37 at 2 years) from 60 IwCF were included. LCI was abnormal (zLCI > 1.96) in 31% (12/39) of 3‐month‐olds (mean± zLCI 1.21 ± 1.08), 28% (12/43) of 1‐year‐olds and 19% (7/36) of 2‐year‐olds (mean± zLCI 1.13 ± 1.10). Among 74 cases with recent positive microbiology or abnormal chest findings at medical review, 100% (31/31) of those with abnormal lung function and 86% (37/43) of those with normal lung function ( p = 0.04) had a recent antibiotic prescription or a change in clinical management. Conversely, in encounters with abnormal lung function but normal clinical findings, management changes occurred in only 12% (2/16) of cases. Conclusion: In this real‐word cohort of IwCF, clinical management was mainly influenced by clinical findings and only marginally by abnormal lung function (elevated FRC or LCI).

Primary ciliary dyskinesia (PCD) is characterised by impaired airway clearance causing oto-sino-pulmonary disease including chronic rhinosinusitis and nasal polyposis [1, 2], which may result in increased upper airways resistance and an increased risk of obstructive sleep apnoea (OSA) [3]. Advanced chronic suppurative lung disease is often associated with sleep disordered breathing (SDB) and nocturnal hypoxemia [4].

BACKGROUND: The peak expiratory flow rate (PEFR) is a simple & cheap way to assess airflow limitation in asthma but there is no normative data in black-African children. Are PEFR values comparable in healthy African and Caucasian children? METHODS: PEFR (Mini-Wright, Clement-Clark LTD) was cross-sectionally measured in children of Bantu origin (black African) from northern Madagascar, aged 7-19 years. Subjects with chronic lung disease or poor-quality tests were excluded. Z-scores were calculated from published reference equations in Caucasian children (Wille et al, Acta Paediatr. 1989 Jul;78(4):544-8), to allow for comparison. RESULTS: A total of 390 children were enrolled, with 311 included in the final analysis (mean ±SD age 13 ±3, boys n. 125, 40%). Figure 1 shows mean predicted PEFR regression curves in Caucasian vs Malagasy children. Whereas Figure 2 provides mean predicted PEFR values in Malagasy children by sex, age and height. erj;64/suppl_68/PA4935/F1 F1 F1 erj;64/suppl_68/PA4935/F2 F2 F2 CONCLUSION: Normal PEFR values were markedly lower in Malagasy children of Bantu origin compared to their Caucasian peers. We provide mean predicted values that can be used when performing PEFR in black African children in sub-Saharan Africa.

Acute chest syndrome (ACS) is a leading cause of respiratory distress and hospitalisation in children with sickle cell disease (SCD). The aetiology is multifactorial and includes fat embolism, venous thromboembolism, alveolar hypoventilation and respiratory infections, with the latter being particularly common in children. These triggers contribute to a vicious cycle of erythrocyte sickling, adhesion to the endothelium, haemolysis, vaso-occlusion and ventilation–perfusion mismatch in the lungs, resulting in the clinical manifestations of ACS. The clinical presentation includes fever, chest pain, dyspnoea, cough, wheeze and hypoxia, accompanied by a new pulmonary infiltrate on chest radiography. Respiratory symptoms may overlap with those of acute asthma, which may be difficult to distinguish. Patients with ACS may deteriorate rapidly; thus prevention, early recognition and aggressive, multidisciplinary team management is essential. In this narrative review, we highlight the current evidence regarding the epidemiology, pathophysiology, treatment and preventative strategies for ACS, focusing on the aspects of major interest for the paediatric pulmonologist and multidisciplinary team who manage children with SCD.

The impact of socio-economic status on the risk of allergy in African children is not clear.This was a cross sectional study including children aged 6–14 years from urban and rural settings in north-central Nigeria. Participants underwent skin prick tests to house dust mite (HDM) and an interview investigating socio-economic status through the Family Affluence Scale (FAS) based on a score of 0–6.A total of 346 children were enrolled (52.8% boys; mean age ± SD 9.6 ± 2.0 years), including 142 (41% of total) rural and 204 (59% of total) urban pupils. Prevalence of HDM sensitivity was 2.8% (4/142) in the rural setting and 15.6% (32/204) in the urban setting (P < 0.001). Among urban children, frequency of HDM sensitization was 8.6% (7/81) in the lowest socio-economic group (FAS 0–1), 13.1% (8/61) in the intermediate one (FAS 2–3) and 27.4% (17/62) in the highest one (FAS ≥ 4).Urbanization and increasing wealth are associated with a higher frequency of sensitization to HDM in Nigerian children.

We investigated whether a 1-week stay in the mountains may have a positive impact on Exercise-Induced Bronchoconstriction (EIB) and cardiorespiratory endurance in asthmatic children from an urban area. Spirometry was performed before and 10 min after a 20 m shuttle run test (20mSRT) on the first and seventh day of a summer asthma camp in the Italian Alps at 900 m of altitude. Spirometry z-scores were derived from the Global Lung Initiative 2012 prediction equations, and percentiles of the 20mSRT performance were assigned according to De Miguel-Etayo’s and Tomkinson’s predictive equations. A FEV₁ decrease ≥10% after the exercise was defined as EIB. Particulate matter pollution was monitored during the camp and in the urban area of provenience. Twenty-four subjects (age range 7–16 years) were included. Frequency of EIB decreased from 58% (14/24) at day-1 to 33% (8/24) at the end of the camp (p = 0.08). Most subjects with a 20mSRT in the lowest quartile at day 1 had EIB (9/11). The proportion of children with a 20mSRT p = 0.02). Conclusion: One-week climate therapy in the mountains improved both bronchial hyperreactivity and cardiorespiratory endurance in our cohort of asthmatic children.