Background
Tracheobronchomalacia (TBM) is characterized by excessive dynamic airway collapse. Severe TBM can be associated with substantial morbidity. Children with secondary TBM associated with ...esophageal atresia/tracheoesophageal fistula (EA/TEF) and vascular‐related airway compression (VRAC) demonstrate clinical improvement following airway pexy surgery. It is unclear if children with severe primary TBM, without secondary etiologies (EA/TEF, vascular ring, intrinsic pulmonary pathology, or complex cardiac disease) demonstrate clinical improvement following airway pexy surgery.
Materials and Methods
The study cohort consisted of 73 children with severe primary TBM who underwent airway pexy surgery between 2013 and 2020 at Boston Children's Hospital. Pre‐ and postoperative symptoms as well as bronchoscopic findings were compared with Fisher exact test for categorical data and Student's t‐test for continuous data.
Results
Statistically significant improvements in clinical symptoms were observed, including cough, noisy breathing, prolonged respiratory infections, pneumonias, exercise intolerance, cyanotic spells, brief resolved unexplained events (BRUE), and noninvasive positive pressure ventilation (NIPPV) dependence. No significant differences were seen regarding oxygen dependence, ventilator dependence, or respiratory distress requiring NIPPV. Comparison of pre‐ and postoperative dynamic bronchoscopy findings revealed statistically significant improvement in the percent of airway collapse in all anatomic locations except at the level of the upper trachea (usually not malacic). Despite some initial improvements, 21 (29%) patients remained symptomatic and underwent additional airway pexies with improvement in symptoms.
Conclusion
Airway pexy surgery resulted in significant improvement in clinical symptoms and bronchoscopic findings for children with severe primary TBM; however, future prospective and long‐term studies are needed to confirm this benefit.
Purpose
To investigate the characteristic thoracic multidetector computed tomography (MDCT) findings of pathologically proven combined congenital lung lesion consisting of bronchial atresia (BA) and ...congenital pulmonary airway malformation (CPAM) in children.
Materials and Methods
All pediatric patients (age ≤ 18 years) with a known pathological diagnosis of a combined BA‐CPAM congenital lung lesion, who underwent thoracic MDCT studies from January 2011 to January 2021 were included. Two pediatric radiologists independently evaluated thoracic MDCT studies for the presence of abnormalities in the lung, including nodule, mass, cyst, ground‐glass opacity, and consolidation. When a lung abnormality was present, the number, size, composition (solid, cystic, or combination of both), borders (well‐circumscribed vs. ill‐defined), contrast enhancement pattern (nonenhancement vs. enhancement), and location (laterality, and lobar distribution) were also evaluated. Interobserver agreement between two independent reviewers was evaluated with κ statistics.
Results
Eighteen contrast‐enhanced thoracic MDCT studies from 18 individual pediatric patients (8 males (44%) and 10 females (56%); mean age: 4.9 months; SD: 2.6; range: 1–10 months) with a pathological diagnosis of combined BA‐CPAM congenital lung lesion comprised the final study population. The most frequent MDCT finding of combined BA‐CPAM congenital lung lesion in children was a solitary (18/18; 100%), well‐circumscribed (18/18; 100%), both solid and cystic (17/18; 94%) lesion with nonenhancing (17/17; 100%) nodule, reflecting the underlying BA component, adjacent to a well‐circumscribed multicystic mass (18/18; 100%), representing the underlying CPAM component. This combined congenital lung lesion occurred in all lobes with similar frequency. There was almost perfect interobserver κ agreement between the two independent reviewers for detecting abnormalities on thoracic MDCT studies (k = 0.98).
Conclusion
The characteristic thoracic MDCT findings of a combined BA‐CPAM congenital lung lesion are a solitary, well‐circumscribed solid and multicystic mass, with a nonenhancing nodule, reflecting the BA component, adjacent to a cystic mass, representing the CPAM component. Accurate recognition of these characteristic MDCT findings of combined BA‐CPAM congenital lung lesion has great potential to help differentiate this combined congenital lung lesion from other thoracic pathology in children.
In recent years, a growing number of monogenic disorders have been described that are characterized by immune dysregulation. A subset of these “primary immune regulatory disorders” can cause severe ...interstitial lung disease, often recognized in late childhood or adolescence. Patients presenting to pulmonary clinic may have long and complex medical histories, but lack a unifying genetic diagnosis. It is crucial for pulmonologists to recognize features suggestive of multisystem immune dysregulation and to initiate genetic workup, since targeted therapies based on underlying genetics may halt or even reverse pulmonary disease progression. Through such an approach, our center has been able to diagnose and treat a cohort of patients with interstitial lung disease from gene defects that affect immune regulation. Here we present representative cases related to pathogenic variants in three distinct pathways and summarize disease manifestations and treatment approaches. We conclude with a discussion of our perspective on the outstanding challenges for diagnosing and managing these complex life‐threatening and chronic disorders.
Objective
The primary immunodeficiency syndromes of cytotoxic T lymphocyte‐associated protein 4 (CTLA‐4) haploinsufficiency and lipopolysaccharide‐responsive and beige‐like anchor protein (LRBA) ...deficiency present with multisystem immune dysregulation. The aim of this study was to characterize and compare the pulmonary manifestations of these two diseases.
Methods
We retrospectively analyzed the pulmonary clinical, radiologic, and histopathologic characteristics of six patients with CTLA‐4 haploinsufficiency and four patients with LRBA deficiency with pulmonary involvement followed at a large tertiary care center.
Results
Chronic respiratory symptoms were more frequent in patients with LRBA deficiency versus CTLA‐4 haploinsufficiency (3/4 vs. 1/6). Cough was the most common respiratory symptom. Abnormalities in pulmonary exam and pulmonary function testing were more frequent in LRBA deficiency (4/4, 2/4) compared to CTLA‐4 haploinsufficiency (1/6, 2/6). Chest computed tomography (CT) findings included mediastinal lymphadenopathy (4/4 in LRBA deficiency vs. 1/4 in CTLA‐4 haploinsufficiency), pulmonary nodules (4/4, 3/4), ground‐glass opacification (4/4, 3/4), and bronchiectasis (3/4, 1/4). Lymphocytic inflammation, concentrated bronchovasculocentrically and paraseptally, was the predominant pathologic finding and was observed in all patients who had lung biopsies (N = 3 with LRBA deficiency; N = 3 with CTLA‐4 haploinsufficiency).
Conclusion
Despite phenotypic overlap amongst these diseases, LRBA deficiency demonstrated greater severity of pulmonary disease, indicated by respiratory symptoms, pulmonary exam, and intrathoracic radiologic findings. Chest CT was the most sensitive indicator of pulmonary involvement in both disorders. Lymphocytic inflammation is the key histologic feature of both disorders. Pediatric pulmonologists should consider these disorders of immune dysregulation in the relevant clinical context to provide earlier diagnosis, comprehensive pulmonary evaluation and treatment.
The antiphospholipid syndrome (APS) is characterized by venous and/or arterial thrombosis, or recurrent fetal loss, in the presence of antiphospholipid antibodies (APL). The pathogenesis of APS is ...multifaceted and involves numerous mechanisms including activation of endothelial cells, monocytes, and/or platelets; inhibition of natural anticoagulant pathways such as protein C, tissue factor inhibitor, and annexin A5; activation of the complement system; and impairment of the fibrinolytic system. Fibrinolysis—the process by which fibrin thrombi are remodeled and degraded—involves the conversion of plasminogen to plasmin by tissue plasminogen activator (tPA) or urokinase-type plasminogen activator, and is tightly regulated. Although the role of altered fibrinolysis in patients with APS is relatively understudied, several reports suggest that deficient fibrinolytic activity may contribute to the pathogenesis of disease in these patients. This article discusses the function of the fibrinolytic system and reviews studies that have reported alterations in fibrinolytic pathways that may contribute to thrombosis in patients with APL. Some of these mechanisms include elevations in plasminogen activator inhibitor-1 levels, inhibitory antibodies against tPA or other components of the fibrinolytic system, antibodies against annexin A2, and finally, antibodies to β
2
-glycoprotein-I (β
2
GPI) that block the ability of β
2
GPI to stimulate tPA-mediated plasminogen activation.
Purpose: To retrospectively compare the pleuropulmonary MDCT findings in children with pulmonary vein stenosis (PVS) and prematurity-related lung disease (PLD). Materials and Methods: All consecutive ...infants and young children (≤18 years old) who underwent thoracic MDCT studies from July 2004 to November 2021 were categorized into two groups—children with PVS (Group 1) and children with PLD without PVS (Group 2). Two pediatric radiologists independently evaluated thoracic MDCT studies for the presence of pleuropulmonary abnormalities as follows—(1) in the lung (ground-glass opacity (GGO), triangular/linear plaque-like opacity (TLO), consolidation, nodule, mass, cyst(s), interlobular septal thickening, and fibrosis); (2) in the airway (bronchial wall thickening and bronchiectasis); and (3) in the pleura (thickening, effusion, and pneumothorax). Interobserver agreement between the two reviewers was evaluated with the Kappa statistic. Results: There were a total of 103 pediatric patients (60 males (58.3%) and 43 females (41.7%); mean age, 1.7 years; range, 2 days−7 years). Among these 103 patients, 49 patients (47.6%) comprised Group 1 and the remaining 54 patients (52.4%) comprised Group 2. In Group 1, the observed pleuropulmonary MDCT abnormalities were—pleural thickening (44/49; 90%), GGO (39/49; 80%), septal thickening (39/49; 80%), consolidation (4/49; 8%), and pleural effusion (1/49; 2%). The pleuropulmonary MDCT abnormalities seen in Group 2 were—GGO (45/54; 83%), TLO (43/54; 80%), bronchial wall thickening (33/54; 61%), bronchiectasis (30/54; 56%), cyst(s) (5/54; 9%), pleural thickening (2/54; 4%), and pleural effusion (2/54; 4%). Septal thickening and pleural thickening were significantly more common in pediatric patients with PVS (Group 1) (p < 0.001). TLO, bronchial wall thickening, and bronchiectasis were significantly more frequent in pediatric patients with PLD without PVS (Group 2) (p < 0.001). There was high interobserver kappa agreement between the two independent reviewers for detecting pleuropulmonary abnormalities on thoracic MDCT angiography studies (k = 0.99). Conclusion: Pleuropulmonary abnormalities seen on thoracic MDCT can be helpful for distinguishing PVS from PLD in children. Specifically, the presence of septal thickening and pleural thickening raises the possibility of PVS, whereas the presence of TLO, bronchial wall thickening and bronchiectasis suggests PLD in the pediatric population.
The American Thoracic Society Pediatric Core Curriculum updates clinicians annually in pediatric pulmonary disease in a 3 to 4 year recurring cycle of topics. The 2019 course was presented in May ...during the Annual International Conference. An American Board of Pediatrics Maintenance of Certification module and a continuing medical education exercise covering the contents of the Core Curriculum can be accessed online at www.thoracic.org.
Lung disease (LD) is an increasingly recognized complication of systemic juvenile idiopathic arthritis (sJIA). As there are no currently available guidelines for pulmonary screening in sJIA, we ...sought to develop such an algorithm at our institution.
A multidisciplinary workgroup was convened, including members representing rheumatology, pulmonary, stem cell transplantation, and patient families. The workgroup leaders drafted an initial algorithm based on published literature and experience at our center. A modified Delphi approach was used to achieve agreement through three rounds of anonymous, asynchronous voting and a consensus meeting. Statements approved by the workgroup were rated as appropriate with moderate or high levels of consensus. These statements were organized into the final approved screening algorithm for LD in sJIA.
The workgroup ultimately rated 20 statements as appropriate with a moderate or high level of consensus. The approved algorithm recommends pulmonary screening for newly diagnosed patients with sJIA with clinical features that the workgroup agreed may confer increased risk for LD. These "red flag features" include baseline characteristics (young age of sJIA onset, human leukocyte antigen type, trisomy 21), high disease activity (macrophage activation syndrome MAS, sJIA-related ICU admission, elevated MAS biomarkers), respiratory symptoms or abnormal pulmonary examination findings, and features of drug hypersensitivity-like reactions (eosinophilia, atypical rash, anaphylaxis). The workgroup achieved consensus on the recommended pulmonary work-up and monitoring guidelines.
We developed a pulmonary screening algorithm for sJIA-LD through a multidisciplinary consensus-building process, which will be revised as our understanding of sJIA-LD continues to evolve.
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